학술논문

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발행년	- (예 : 2010-2015)

KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.

Academic Journal

Cif L; Département de Neurochirurgie, Unité des Pathologies Cérébrales Résistantes, Unité de Recherche sur les Comportements et Mouvements Anormaux, Hôpital Gui de Chauliac, Centre Hospitalier Régional Montpellier, Montpellier, France.; Faculté demédecine, Université de Montpellier, France.; Demailly D; Département de Neurochirurgie, Unité des Pathologies Cérébrales Résistantes, Unité de Recherche sur les Comportements et Mouvements Anormaux, Hôpital Gui de Chauliac, Centre Hospitalier Régional Montpellier, Montpellier, France.; Faculté demédecine, Université de Montpellier, France.; Lin JP; Complex Motor Disorder Service, Children's Neurosciences Department, Evelina London Children's Hospital, Guy's and St Thomas' NHS Foundation Trust, London, UK.; Children's Neuromodulation Group, Women and Children's Health Institute, Faculty of life Sciences and Medicine (FOLSM), King's Health Partners, London, UK.; Barwick KE; Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.; Sa M; Complex Motor Disorder Service, Children's Neurosciences Department, Evelina London Children's Hospital, Guy's and St Thomas' NHS Foundation Trust, London, UK.; Abela L; Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.; Malhotra S; Institute of Structural and Molecular Biology, Department of Biological Sciences, Birkbeck College, University of London, London, UK.; Chong WK; Developmental Imaging and Biophysics, UCL Great Ormond Street Institute of Child Health, London, UK.; Steel D; Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.; Department of Neurology, Great Ormond Street Hospital, London, UK.; Sanchis-Juan A; NIHR BioResource, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.; Department of Haematology, NHS Blood and Transplant Centre, University of Cambridge, Cambridge, UK.; Ngoh A; Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.; Department of Neurology, Great Ormond Street Hospital, London, UK.; Trump N; Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.; Meyer E; Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.; Vasques X; European IBM Systems Center, Montpellier, France.; Rankin J; Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.; Allain MW; Division of Medical Genetics, Department of Pediatrics, Stanford University, Palo Alto, CA, USA.; Applegate CD; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Isfahani SA; Human Motor Control Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.; Baleine J; Unité de Soins Intensifs et Réanimation Pédiatrique et Néonatale, Hôpital Universitaire de Montpellier, Montpellier, France.; Balint B; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, UK.; Department of Neurology, University Hospital Heidelberg, Heidelberg, Germany.; Bassetti JA; Division of Medical Genetics, Department of Pediatrics, Weill Cornell Medical College, New York, NY, USA.; Baple EL; Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.; Institute of Biomedical and Clinical Science RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.; Bhatia KP; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, UK.; Blanchet C; Département d'Oto-Rhino-Laryngologie et Chirurgie Cervico-Faciale, Hôpital Universitaire de Montpellier, Montpellier, France.; Burglen L; Département de génétique médicale, APHP Hôpital Armand Trousseau, Paris, France.; Cambonie G; Unité de Soins Intensifs et Réanimation Pédiatrique et Néonatale, Hôpital Universitaire de Montpellier, Montpellier, France.; Seng EC; Département de Neurochirurgie, Unité des Pathologies Cérébrales Résistantes, Unité de Recherche sur les Comportements et Mouvements Anormaux, Hôpital Gui de Chauliac, Centre Hospitalier Régional Montpellier, Montpellier, France.; Faculté demédecine, Université de Montpellier, France.; Bastaraud SC; Unité Dyspa, Neurochirurgie Pédiatrique, Hôpital Fondation Rothschild, Paris, France.; Cyprien F; Département de Neurochirurgie, Unité des Pathologies Cérébrales Résistantes, Unité de Recherche sur les Comportements et Mouvements Anormaux, Hôpital Gui de Chauliac, Centre Hospitalier Régional Montpellier, Montpellier, France.; Faculté demédecine, Université de Montpellier, France.; Coubes C; Département de Génétique médicale, Maladies rares et médecine personnalisée, CHU Montpellier, Montpellier, France.; d'Hardemare V; Unité Dyspa, Neurochirurgie Pédiatrique, Hôpital Fondation Rothschild, Paris, France.; Doja A; Division of Neurology, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.; Dorison N; Unité Dyspa, Neurochirurgie Pédiatrique, Hôpital Fondation Rothschild, Paris, France.; Doummar D; Neuropédiatrie, Centre de référence neurogénétique mouvement anormaux de l'enfant, Hôpital Armand Trousseau, AP-HP, Sorbonne Université, France.; Dy-Hollins ME; Department of Neurology, Massachusetts General Hospital, Boston, MA, USA.; Department of Neurology, Harvard Medical School, Boston, MA, USA.; Farrelly E; Division of Medical Genetics, Department of Pediatrics, Stanford University, Palo Alto, CA, USA.; Department of Pediatrics, Lucile Packard Children's Hospital at Stanford, CA, USA.; Fitzpatrick DR; Human Genetics Unit, Medical and Developmental Genetics, University of Edinburgh Western General Hospital, Edinburgh, Scotland, UK.; Fearon C; Department of Neurology, The Dublin Neurological Institute at the Mater Misericordiae University Hospital, Dublin, Ireland.; Fieg EL; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.; Fogel BL; Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.; Forman EB; Department of Paediatric Neurology and Clinical Neurophysiology, Children's Health Ireland at Temple Street, Dublin, Ireland.; Fox RG; Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, OR, USA.; Gahl WA; Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Galosi S; Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy.; Gonzalez V; Département de Neurochirurgie, Unité des Pathologies Cérébrales Résistantes, Unité de Recherche sur les Comportements et Mouvements Anormaux, Hôpital Gui de Chauliac, Centre Hospitalier Régional Montpellier, Montpellier, France.; Faculté demédecine, Université de Montpellier, France.; Graves TD; Department of Neurology, Hinchingbrooke Hospital, North West Anglia NHS Foundation Trust, Huntingdon, UK.; Gregory A; Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, OR, USA.; Hallett M; Human Motor Control Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.; Hasegawa H; Complex Motor Disorder Service, Children's Neurosciences Department, Evelina London Children's Hospital, Guy's and St Thomas' NHS Foundation Trust, London, UK.; Children's Neuromodulation Group, Women and Children's Health Institute, Faculty of life Sciences and Medicine (FOLSM), King's Health Partners, London, UK.; Hayflick SJ; Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, OR, USA.; Department of Paediatrics, Oregon Health and Science University, Portland, OR, USA.; Hamosh A; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Hully M; Département de Neurologie, APHP-Necker-Enfants Malades, Paris, France.; Jansen S; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Jeong SY; Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, OR, USA.; Krier JB; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.; Krystal S; Département de Neuroradiologie, Hôpital Fondation Rothschild, Paris.; Kumar KR; Translational Genomics Group, Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, NSW, Australia.; Department of Neurogenetics, Kolling Institute, University of Sydney and Royal North Shore Hospital, St Leonards, NSW, Australia.; Molecular Medicine Laboratory, Concord Hospital, Sydney, NSW, Australia.; Laurencin C; Département de Neurologie, Hôpital Neurologique Pierre Wertheimer, Lyon, France.; Lee H; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.; Lesca G; Département de Génétique, Hôpital Universitaire de Lyon, Lyon, France.; François LL; Département de Pédiatrie, Hôpital Lyon-Sud, Pierre-Bénite, France.; Lynch T; Department of Neurology, The Dublin Neurological Institute at the Mater Misericordiae University Hospital, Dublin, Ireland.; UCD School of Medicine and Medical Science, University College Dublin, Dublin, Ireland.; Mahant N; Movement Disorders Unit, Department of Neurology, Westmead Hospital, Westmead, NSW, Australia.; Martinez-Agosto JA; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.; Division of Medical Genetics, Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.; Milesi C; Unité de Soins Intensifs et Réanimation Pédiatrique et Néonatale, Hôpital Universitaire de Montpellier, Montpellier, France.; Mills KA; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Mondain M; Département d'Oto-Rhino-Laryngologie et Chirurgie Cervico-Faciale, Hôpital Universitaire de Montpellier, Montpellier, France.; Morales-Briceno H; Movement Disorders Unit, Department of Neurology, Westmead Hospital, Westmead, NSW, Australia.; Sydney Medical School, University of Sydney, Sydney, NSW, Australia.; Ostergaard JR; Centre for Rare Diseases, Aarhus University Hospital, Aarhus, Denmark.; Pal S; Institute of Genetics and Genomics, Sir Ganga Ram Hospital, Rajender Nagar, New Delhi, India.; Pallais JC; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.; Pavillard F; Département d'Anesthésie-Réanimation Gui de Chauliac, Centre Hospitalier Universitaire de Montpellier, Montpellier, France.; Perrigault PF; Département d'Anesthésie-Réanimation Gui de Chauliac, Centre Hospitalier Universitaire de Montpellier, Montpellier, France.; Petersen AK; Randall Children's Hospital, Portland, OR, USA.; Polo G; Département de Neurochirurgie Fonctionnelle, Hôpital Neurologique et Neurochirurgical, Pierre Wertheimer, Lyon, France.; Poulen G; Département de Neurochirurgie, Unité des Pathologies Cérébrales Résistantes, Unité de Recherche sur les Comportements et Mouvements Anormaux, Hôpital Gui de Chauliac, Centre Hospitalier Régional Montpellier, Montpellier, France.; Faculté demédecine, Université de Montpellier, France.; Rinne T; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Roujeau T; Département de Neurochirurgie, Unité des Pathologies Cérébrales Résistantes, Unité de Recherche sur les Comportements et Mouvements Anormaux, Hôpital Gui de Chauliac, Centre Hospitalier Régional Montpellier, Montpellier, France.; Rogers C; Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, OR, USA.; Roubertie A; Département de Neuropédiatrie, Hôpital Universitaire de Montpellier, Montpellier, France.; INSERM U1051, Institut des Neurosciences de Montpellier, Montpellier, France.; Sahagian M; Division of Neurology, Rady Children's Hospital San Diego, CA, USA.; Department of Neuroscience, University of California San Diego, CA, USA.; Schaefer E; Medical Genetics, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.; Selim L; Cairo University Children Hospital, Pediatric Neurology and Metabolic division, Cairo, Egypt.; Selway R; Department of Neurosurgery, King's College Hospital, London, UK.; Sharma N; Department of Neurology, Massachusetts General Hospital, Boston, MA, USA.; Department of Neurology, Harvard Medical School, Boston, MA, USA.; Department of Neurology, Brigham and Women's Hospital, Boston, MA, USA.; Signer R; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.; Soldatos AG; Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Stevenson DA; Division of Medical Genetics, Department of Pediatrics, Stanford University, Palo Alto, CA, USA.; Stewart F; Department of Genetic Medicine, Belfast Health and Social Care Trust, Belfast, UK.; Tchan M; Sydney Medical School, University of Sydney, Sydney, NSW, Australia.; Department of Genetics, Westmead Hospital, Westmead, NSW, Australia.; Verma IC; Institute of Genetics and Genomics, Sir Ganga Ram Hospital, Rajender Nagar, New Delhi, India.; de Vries BBA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Wilson JL; Division of Pediatric Neurology, Department of Pediatrics, Oregon Health and Science University, Portland, OR, USA.; Wong DA; Division of Medical Genetics, Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.; Zaitoun R; Department of Paediatrics, Neurology Division, Ain Shams University Hospital, Cairo, Egypt.; Zhen D; Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, OR, USA.; Znaczko A; Department of Genetic Medicine, Belfast Health and Social Care Trust, Belfast, UK.; Dale RC; Department of Paediatric Neurology, The Children's Hospital at Westmead, NSW, Australia.; Faculty of Medicine and Health, Sydney Medical School, University of Sydney, Sydney NSW, Australia.; de Gusmão CM; Department of Neurology, Harvard Medical School, Boston, MA, USA.; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Friedman J; Division of Neurology, Rady Children's Hospital San Diego, CA, USA.; Department of Neuroscience, University of California San Diego, CA, USA.; Departments of Paediatrics, University of California, San Diego, CA, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA.; Fung VSC; Movement Disorders Unit, Department of Neurology, Westmead Hospital, Westmead, NSW, Australia.; Sydney Medical School, University of Sydney, Sydney, NSW, Australia.; King MD; Department of Paediatric Neurology and Clinical Neurophysiology, Children's Health Ireland at Temple Street, Dublin, Ireland.; UCD School of Medicine and Medical Science, University College Dublin, Dublin, Ireland.; Mohammad SS; Department of Paediatric Neurology, The Children's Hospital at Westmead, NSW, Australia.; Faculty of Medicine and Health, Sydney Medical School, University of Sydney, Sydney NSW, Australia.; Rohena L; Division of Medical Genetics, Department of Pediatrics, San Antonio Military Medical Center, San Antonio, TX, USA.; Department of Pediatrics, Long School of Medicine, UT Health, San Antonio, TX, USA.; Waugh JL; Division of Pediatric Neurology, Department of Pediatrics, University of Texas Southwestern, Dallas, TX, USA.; Toro C; Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Raymond FL; NIHR BioResource, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.; Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK.; Topf M; Institute of Structural and Molecular Biology, Department of Biological Sciences, Birkbeck College, University of London, London, UK.; Coubes P; Département de Neurochirurgie, Unité des Pathologies Cérébrales Résistantes, Unité de Recherche sur les Comportements et Mouvements Anormaux, Hôpital Gui de Chauliac, Centre Hospitalier Régional Montpellier, Montpellier, France.; Faculté demédecine, Université de Montpellier, France.; Gorman KM; Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.; Department of Neurology, Great Ormond Street Hospital, London, UK.; Kurian MA; Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.; Department of Neurology, Great Ormond Street Hospital, London, UK.

Country of Publication: United States NLM ID: 101759493 Publication Model: Electronic Cited Medium: Internet ISSN: 2331-8422 (Electronic) Linking ISSN: 23318422 NLM ISO Abbreviation: ArXiv Subsets: PubMed not MEDLINE

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Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder

Academic Journal

Schneeberger, Pauline E.; Kortüm, Fanny; Korenke, Georg Christoph; Alawi, Malik; Santer, René; Woidy, Mathias; Buhas, Daniela; Fox, Stephanie; Juusola, Jane; Alfadhel, Majid; Webb, Bryn D.; Coci, Emanuele G.; Abou Jamra, Rami; Siekmeyer, Manuela; Biskup, Saskia; Heller, Corina; Maier, Esther M.; Javaher-Haghighi, Poupak; Bedeschi, Maria F.; Ajmone, Paola F.; Iascone, Maria; Peeters, Hilde; Ballon, Katleen; Jaeken, Jaak; Rodríguez Alonso, Aroa; Palomares-Bralo, María; Santos-Simarro, Fernando; Meuwissen, Marije; Beysen, Diane; Kooy, Frank; Houlden, Henry; Murphy, David; Doosti, Mohammad; Karimiani, Ehsan G; Mojarrad, Majid; Maroofian, Reza; Noskova, Lenka; Kmoch, Stanislav; Honzik, Tomas; Cope, Heidi; Sanchez-Valle, Amarilis; Acosta, Maria T; Adam, Margaret; Adams, David R; Agrawal, Pankaj B; Alejandro, Mercedes E; Alvey, Justin; Amendola, Laura; Andrews, Ashley; Ashley, Euan A; Azamian, Mahshid S; Bacino, Carlos A; Bademci, Guney; Baker, Eva; Balasubramanyam, Ashok; Baldridge, Dustin; Bale, Jim; Bamshad, Michael; Barbouth, Deborah; Batzli, Gabriel F; Bayrak-Toydemir, Pinar; Beck, Anita; Beggs, Alan H; Behrens, Edward; Bejerano, Gill; Bennet, Jimmy; Berg-Rood, Beverly; Bernier, Raphael; Bernstein, Jonathan A; Berry, Gerard T; Bican, Anna; Bivona, Stephanie; Blue, Elizabeth; Bohnsack, John; Bonnenmann, Carsten; Bonner, Devon; Botto, Lorenzo; Boyd, Brenna; Briere, Lauren C; Brokamp, Elly; Brown, Gabrielle; Burke, Elizabeth A; Burrage, Lindsay C; Butte, Manish J; Byers, Peter; Byrd, William E; Carey, John; Carrasquillo, Olveen; Chang, Ta Chen Peter; Chanprasert, Sirisak; Chao, Hsiao-Tuan; Clark, Gary D; Coakley, Terra R; Cobban, Laurel A; Cogan, Joy D; Cole, F Sessions; Colley, Heather A; Cooper, Cynthia M; Craigen, William J; Crouse, Andrew B; Cunningham, Michael; D’Souza, Precilla; Dai, Hongzheng; Dasari, Surendra; Davids, Mariska; Dayal, Jyoti G; Deardorff, Matthew; Dell’Angelica, Esteban C; Dhar, Shweta U; Dipple, Katrina; Doherty, Daniel; Dorrani, Naghmeh; Douine, Emilie D; Draper, David D; Duncan, Laura; Earl, Dawn; Eckstein, David J; Emrick, Lisa T; Eng, Christine M; Esteves, Cecilia; Estwick, Tyra; Falk, Marni; Fernandez, Liliana; Ferreira, Carlos; Fieg, Elizabeth L; Fisher, Paul G; Fogel, Brent L; Forghani, Irman; Fresard, Laure; Gahl, William A; Glass, Ian; Godfrey, Rena A; Golden-Grant, Katie; Goldman, Alica M; Goldstein, David B; Grajewski, Alana; Groden, Catherine A; Gropman, Andrea L; Gutierrez, Irma; Hahn, Sihoun; Hamid, Rizwan; Hanchard, Neil A; Hassey, Kelly; Hayes, Nichole; High, Frances; Hing, Anne; Hisama, Fuki M; Holm, Ingrid A; Hom, Jason; Horike-Pyne, Martha; Huang, Alden; Huang, Yong; Isasi, Rosario; Jamal, Fariha; Jarvik, Gail P; Jarvik, Jeffrey; Jayadev, Suman; Johnston, Jean M; Karaviti, Lefkothea; Kelley, Emily G; Kennedy, Jennifer; Kiley, Dana; Kohane, Isaac S; Kohler, Jennefer N; Krakow, Deborah; Krasnewich, Donna M; Kravets, Elijah; Korrick, Susan; Koziura, Mary; Krier, Joel B; Lalani, Seema R; Lam, Byron; Lam, Christina; Lanpher, Brendan C; Lanza, Ian R; Christopher Lau, C; LeBlanc, Kimberly; Lee, Brendan H; Lee, Hane; Levitt, Roy; Lewis, Richard A; Lincoln, Sharyn A; Liu, Pengfei; Liu, Xue Zhong; Longo, Nicola; Loo, Sandra K; Loscalzo, Joseph; Maas, Richard L; Macnamara, Ellen F; MacRae, Calum A; Maduro, Valerie V; Majcherska, Marta M; Malicdan, May Christine V; Mamounas, Laura A; Manolio, Teri A; Mao, Rong; Maravilla, Kenneth; Markello, Thomas C; Marom, Ronit; Marth, Gabor; Martin, Beth A; Martin, Martin G; Martínez-Agosto, Julian A; Marwaha, Shruti; McCauley, Jacob; McConkie-Rosell, Allyn; McCormack, Colleen E; McCray, Alexa T; McGee, Elisabeth; Mefford, Heather; Merritt, J Lawrence; Might, Matthew; Mirzaa, Ghayda; Morava-Kozicz, Eva; Moretti, Paolo M; Morimoto, Marie; Mulvihill, John J; Murdock, David R; Nakano-Okuno, Mariko; Nath, Avi; Nelson, Stan F; Newman, John H; Nicholas, Sarah K; Nickerson, Deborah; Novacic, Donna; Oglesbee, Devin; Orengo, James P; Pace, Laura; Pak, Stephen; Carl Pallais, J; Palmer, Christina GS; Papp, Jeanette C; Parker, Neil H; Phillips, John A; Posey, Jennifer E; Potocki, Lorraine; Pusey, Barbara N; Quinlan, Aaron; Raskind, Wendy; Raja, Archana N; Renteria, Genecee; Reuter, Chloe M; Rives, Lynette; Robertson, Amy K; Rodan, Lance H; Rosenfeld, Jill A; Rosenwasser, Natalie; Rowley, Robb K; Ruzhnikov, Maura; Sacco, Ralph; Sampson, Jacinda B; Samson, Susan L; Saporta, Mario; Scott, C Ron; Schaechter, Judy; Schedl, Timothy; Schoch, Kelly; Scott, Daryl A; Sharma, Prashant; Shashi, Vandana; Shin, Jimann; Signer, Rebecca; Sillari, Catherine H; Silverman, Edwin K; Sinsheimer, Janet S; Sisco, Kathy; Smith, Edward C; Smith, Kevin S; Solem, Emily; Solnica-Krezel, Lilianna; Spillmann, Rebecca C; Stoler, Joan M; Stong, Nicholas; Sullivan, Jennifer A; Sullivan, Kathleen; Sun, Angela; Sutton, Shirley; Sweetser, David A; Sybert, Virginia; Tabor, Holly K; Tamburro, Cecelia P; Tan, Queenie K -G; Tekin, Mustafa; Telischi, Fred; Thorson, Willa; Tifft, Cynthia J; Toro, Camilo; Tran, Alyssa A; Tucker, Brianna M; Urv, Tiina K; Vanderver, Adeline; Velinder, Matt; Viskochil, Dave; Vogel, Tiphanie P; Wahl, Colleen E; Wallace, Stephanie; Walley, Nicole M; Walsh, Chris A; Walker, Melissa; Wambach, Jennifer; Wan, Jijun; Wang, Lee-kai; Wangler, Michael F; Ward, Patricia A; Wegner, Daniel; Wener, Mark; Wenger, Tara; Perry, Katherine Wesseling; Westerfield, Monte; Wheeler, Matthew T; Whitlock, Jordan; Wolfe, Lynne A; Woods, Jeremy D; Yamamoto, Shinya; Yang, John; Yu, Guoyun; Zastrow, Diane B; Zhao, Chunli; Zuchner, Stephan; Gelb, Bruce D; Kurth, Ingo; Hempel, Maja; Kutsche, Kerstin; Kortum, Fanny; Santer, Rene; Rodriguez Alonso, Aroa; Palomares-Bralo, Maria; Karimiani, Ehsan; Gelb, Bruce D.

Brain

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Quantifying Downstream Healthcare Utilization in Studies of Genomic Testing

Academic Journal

Mackay, Zoë P; Dukhovny, Dmitry; Phillips, Kathryn A; Beggs, Alan H; Green, Robert C; Parad, Richard B; Christensen, Kurt D; Team, BabySeq Project; Agrawal, Pankaj B; Ceyhan-Birsoy, Ozge; Fayer, Shawn; Frankel, Leslie A; Genetti, Casie A; Gutierrez, Amanda M; Harden, Maegan; Holm, Ingrid A; Krier, Joel B; Lebo, Matthew S; Machini, Kalotina; McGuire, Amy L; Naik, Medha; Nguyen, Tiffany T; Pereira, Stacey; Ramanathan, Vivek; Rehm, Heidi L; Roberts, Amy; Robinson, Jill O; Roumiantsev, Sergei; Schwartz, Talia S; Truong, Tina K; VanNoy, Grace E; Waisbren, Susan E; Yu, Timothy W

Value in Health, vol 23, iss 5

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Clinical Utility of Pharmacogenomic Data Collected by a Health-System Biobank to Predict and Prevent Adverse Drug Events.

Academic Journal

Shah SN; Department of Internal Medicine, Brigham and Women's Hospital, 41 Avenue of Louis Pasteur, Office 103, Boston, MA, 02115, USA. sonamnshah@gmail.com.; Department of Pharmacy Practice, MCPHS University School of Pharmacy, Boston, MA, USA. sonamnshah@gmail.com.; Gammal RS; Department of Pharmacy Practice, MCPHS University School of Pharmacy, Boston, MA, USA.; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, MA, USA.; Amato MG; Department of Internal Medicine, Brigham and Women's Hospital, 41 Avenue of Louis Pasteur, Office 103, Boston, MA, 02115, USA.; Department of Pharmacy Practice, MCPHS University School of Pharmacy, Boston, MA, USA.; Alobaidly M; Department of Pharmacy Practice, MCPHS University School of Pharmacy, Boston, MA, USA.; Reyes DD; Department of Pharmacy Practice, MCPHS University School of Pharmacy, Boston, MA, USA.; Hasan S; Department of Pharmacy Practice, MCPHS University School of Pharmacy, Boston, MA, USA.; Seger DL; Clinical Quality Analysis, Partners Healthcare, Somerville, MA, USA.; Krier JB; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA.; Bates DW; Department of Internal Medicine, Brigham and Women's Hospital, 41 Avenue of Louis Pasteur, Office 103, Boston, MA, 02115, USA.; Clinical Quality Analysis, Partners Healthcare, Somerville, MA, USA.; Harvard Medical School, Boston, MA, USA.

Publisher: Adis, Springer International Country of Publication: New Zealand NLM ID: 9002928 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1179-1942 (Electronic) Linking ISSN: 01145916 NLM ISO Abbreviation: Drug Saf Subsets: MEDLINE

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Processes and outcomes from a clinical genetics e-consultation service managed by a primary care physician champion.

Academic Journal

Kerman BJ; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, MA.; Harvard Medical School, Boston, MA.; Zawatsky CBL; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, MA.; Ariadne Labs, Precision Population Health, Boston, MA.; Broad Institute of Harvard and MIT, Cambridge, MA.; Fieg E; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, MA.; Frank NY; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, MA.; Harvard Medical School, Boston, MA.; VA Boston Healthcare System, Boston, MA.; Donnelly RS; Department of Pharmacy Practice, Massachusetts College of Pharmacy and Health Sciences, Boston, MA.; Green RC; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, MA.; Harvard Medical School, Boston, MA.; Ariadne Labs, Precision Population Health, Boston, MA.; Broad Institute of Harvard and MIT, Cambridge, MA.; Kennedy JC; Harvard Medical School, Boston, MA.; Department of Pediatrics, Boston Children's Hospital, Boston, MA.; Department of Pediatrics, Harvard Medical School, Boston, MA.; Lakdawala N; Harvard Medical School, Boston, MA.; Division of Cardiovascular Medicine, Brigham and Womens Hospital, Boston, MA.; Licurse AM; Harvard Medical School, Boston, MA.; Perez EF; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, MA.; Preys CL; VA Boston Healthcare System, Boston, MA.; Krier JB; Harvard Medical School, Boston, MA.; Atrius Health, Boston, MA.; Rana HQ; Harvard Medical School, Boston, MA.; Dana-Farber Cancer Institute, Boston, MA.; Zettler B; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, MA.; Vassy JL; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, MA.; Harvard Medical School, Boston, MA.; Ariadne Labs, Precision Population Health, Boston, MA.; VA Boston Healthcare System, Boston, MA.

Publisher: Elsevier Inc Country of Publication: United States NLM ID: 9918734281906676 Publication Model: eCollection Cited Medium: Internet ISSN: 2949-7744 (Electronic) Linking ISSN: 29497744 NLM ISO Abbreviation: Genet Med Open Subsets: PubMed not MEDLINE

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High-dimensional immunophenotyping reveals immune cell aberrations in patients with undiagnosed inflammatory and autoimmune diseases.

Academic Journal

Mueller AA; Department of Medicine.; Sasaki T; Department of Medicine.; Keegan JW; Department of Surgery, and.; Nguyen JP; Department of Surgery, and.; Griffith A; Department of Surgery, and.; Horisberger AM; Department of Medicine.; Licata T; Department of Medicine.; Fieg E; Department of Medicine.; Cao Y; Department of Medicine.; Elahee M; Department of Medicine.; Marks KE; Department of Medicine.; Simmons DP; Department of Medicine.; Department of Pathology, Brigham and Women's Hospital, Boston, Massachusetts, USA.; Briere LC; Center for Genomic Medicine.; Cobban LA; Department of Medicine.; Pallais JC; Department of Medicine.; High FA; Department of Pediatrics, and.; Walker MA; Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.; Linnoila JJ; Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.; Sparks JA; Department of Medicine.; Holers VM; Department of Medicine, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA.; Costenbader KH; Department of Medicine.; Sweetser DA; Center for Genomic Medicine.; Department of Pediatrics, and.; Krier JB; Department of Medicine.; Loscalzo J; Department of Medicine.; Lederer JA; Department of Surgery, and.; Rao DA; Department of Medicine.

Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model: Electronic Cited Medium: Internet ISSN: 1558-8238 (Electronic) Linking ISSN: 00219738 NLM ISO Abbreviation: J Clin Invest Subsets: MEDLINE

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KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.

Academic Journal

Cif L; Département de Neurochirurgie, Unité des Pathologies Cérébrales Résistantes, Unité de Recherche sur les Comportements et Mouvements Anormaux, Hôpital Gui de Chauliac, Centre Hospitalier Régional Montpellier, Montpellier, France.; Faculté de médecine, Université de Montpellier, France.; Demailly D; Département de Neurochirurgie, Unité des Pathologies Cérébrales Résistantes, Unité de Recherche sur les Comportements et Mouvements Anormaux, Hôpital Gui de Chauliac, Centre Hospitalier Régional Montpellier, Montpellier, France.; Faculté de médecine, Université de Montpellier, France.; Lin JP; Complex Motor Disorder Service, Children's Neurosciences Department, Evelina London Children's Hospital, Guy's and St Thomas' NHS Foundation Trust, London, UK.; Children's Neuromodulation Group, Women and Children's Health Institute, Faculty of life Sciences and Medicine (FOLSM), King's Health Partners, London, UK.; Barwick KE; Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.; Sa M; Complex Motor Disorder Service, Children's Neurosciences Department, Evelina London Children's Hospital, Guy's and St Thomas' NHS Foundation Trust, London, UK.; Abela L; Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.; Malhotra S; Institute of Structural and Molecular Biology, Department of Biological Sciences, Birkbeck College, University of London, London, UK.; Chong WK; Developmental Imaging and Biophysics, UCL Great Ormond Street Institute of Child Health, London, UK.; Steel D; Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.; Department of Neurology, Great Ormond Street Hospital, London, UK.; Sanchis-Juan A; NIHR BioResource, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.; Department of Haematology, NHS Blood and Transplant Centre, University of Cambridge, Cambridge, UK.; Ngoh A; Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.; Department of Neurology, Great Ormond Street Hospital, London, UK.; Trump N; Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.; Meyer E; Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.; Vasques X; European IBM Systems Center, Montpellier, France.; Rankin J; Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.; Allain MW; Division of Medical Genetics, Department of Pediatrics, Stanford University, Palo Alto, CA, USA.; Applegate CD; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Attaripour Isfahani S; Human Motor Control Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.; Baleine J; Unité de Soins Intensifs et Réanimation Pédiatrique et Néonatale, Hôpital Universitaire de Montpellier, Montpellier, France.; Balint B; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, UK.; Department of Neurology, University Hospital Heidelberg, Heidelberg, Germany.; Bassetti JA; Division of Medical Genetics, Department of Pediatrics, Weill Cornell Medical College, New York, NY, USA.; Baple EL; Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.; Institute of Biomedical and Clinical Science RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.; Bhatia KP; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, UK.; Blanchet C; Département d'Oto-Rhino-Laryngologie et Chirurgie Cervico-Faciale, Hôpital Universitaire de Montpellier, Montpellier, France.; Burglen L; Département de génétique médicale, APHP Hôpital Armand Trousseau, Paris, France.; Cambonie G; Unité de Soins Intensifs et Réanimation Pédiatrique et Néonatale, Hôpital Universitaire de Montpellier, Montpellier, France.; Seng EC; Département de Neurochirurgie, Unité des Pathologies Cérébrales Résistantes, Unité de Recherche sur les Comportements et Mouvements Anormaux, Hôpital Gui de Chauliac, Centre Hospitalier Régional Montpellier, Montpellier, France.; Faculté de médecine, Université de Montpellier, France.; Bastaraud SC; Unité Dyspa, Neurochirurgie Pédiatrique, Hôpital Fondation Rothschild, Paris, France.; Cyprien F; Département de Neurochirurgie, Unité des Pathologies Cérébrales Résistantes, Unité de Recherche sur les Comportements et Mouvements Anormaux, Hôpital Gui de Chauliac, Centre Hospitalier Régional Montpellier, Montpellier, France.; Faculté de médecine, Université de Montpellier, France.; Coubes C; Département de Génétique médicale, Maladies rares et médecine personnalisée, CHU Montpellier, Montpellier, France.; d'Hardemare V; Unité Dyspa, Neurochirurgie Pédiatrique, Hôpital Fondation Rothschild, Paris, France.; Doja A; Division of Neurology, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.; Dorison N; Unité Dyspa, Neurochirurgie Pédiatrique, Hôpital Fondation Rothschild, Paris, France.; Doummar D; Neuropédiatrie, Centre de référence neurogénétique mouvement anormaux de l'enfant, Hôpital Armand Trousseau, AP-HP, Sorbonne Université, France.; Dy-Hollins ME; Department of Neurology, Massachusetts General Hospital, Boston, MA, USA.; Department of Neurology, Harvard Medical School, Boston, MA, USA.; Farrelly E; Division of Medical Genetics, Department of Pediatrics, Stanford University, Palo Alto, CA, USA.; Department of Pediatrics, Lucile Packard Children's Hospital at Stanford, CA, USA.; Fitzpatrick DR; Human Genetics Unit, Medical and Developmental Genetics, University of Edinburgh Western General Hospital, Edinburgh, Scotland, UK.; Fearon C; Department of Neurology, The Dublin Neurological Institute at the Mater Misericordiae University Hospital, Dublin, Ireland.; Fieg EL; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.; Fogel BL; Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.; Forman EB; Department of Paediatric Neurology and Clinical Neurophysiology, Children's Health Ireland at Temple Street, Dublin, Ireland.; Fox RG; Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, OR, USA.; Gahl WA; Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Galosi S; Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy.; Gonzalez V; Département de Neurochirurgie, Unité des Pathologies Cérébrales Résistantes, Unité de Recherche sur les Comportements et Mouvements Anormaux, Hôpital Gui de Chauliac, Centre Hospitalier Régional Montpellier, Montpellier, France.; Faculté de médecine, Université de Montpellier, France.; Graves TD; Department of Neurology, Hinchingbrooke Hospital, North West Anglia NHS Foundation Trust, Huntingdon, UK.; Gregory A; Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, OR, USA.; Hallett M; Human Motor Control Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.; Hasegawa H; Complex Motor Disorder Service, Children's Neurosciences Department, Evelina London Children's Hospital, Guy's and St Thomas' NHS Foundation Trust, London, UK.; Children's Neuromodulation Group, Women and Children's Health Institute, Faculty of life Sciences and Medicine (FOLSM), King's Health Partners, London, UK.; Hayflick SJ; Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, OR, USA.; Department of Paediatrics, Oregon Health and Science University, Portland, OR, USA.; Hamosh A; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Hully M; Département de Neurologie, APHP-Necker-Enfants Malades, Paris, France.; Jansen S; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Jeong SY; Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, OR, USA.; Krier JB; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.; Krystal S; Département de Neuroradiologie, Hôpital Fondation Rothschild, Paris.; Kumar KR; Translational Genomics Group, Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, NSW, Australia.; Department of Neurogenetics, Kolling Institute, University of Sydney and Royal North Shore Hospital, St Leonards, NSW, Australia.; Molecular Medicine Laboratory, Concord Hospital, Sydney, NSW, Australia.; Laurencin C; Département de Neurologie, Hôpital Neurologique Pierre Wertheimer, Lyon, France.; Lee H; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.; Lesca G; Département de Génétique, Hôpital Universitaire de Lyon, Lyon, France.; François LL; Département de Pédiatrie, Hôpital Lyon-Sud, Pierre-Bénite, France.; Lynch T; Department of Neurology, The Dublin Neurological Institute at the Mater Misericordiae University Hospital, Dublin, Ireland.; UCD School of Medicine and Medical Science, University College Dublin, Dublin, Ireland.; Mahant N; Movement Disorders Unit, Department of Neurology, Westmead Hospital, Westmead, NSW, Australia.; Martinez-Agosto JA; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.; Division of Medical Genetics, Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.; Milesi C; Unité de Soins Intensifs et Réanimation Pédiatrique et Néonatale, Hôpital Universitaire de Montpellier, Montpellier, France.; Mills KA; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Mondain M; Département d'Oto-Rhino-Laryngologie et Chirurgie Cervico-Faciale, Hôpital Universitaire de Montpellier, Montpellier, France.; Morales-Briceno H; Movement Disorders Unit, Department of Neurology, Westmead Hospital, Westmead, NSW, Australia.; Sydney Medical School, University of Sydney, Sydney, NSW, Australia.; Ostergaard JR; Centre for Rare Diseases, Aarhus University Hospital, Aarhus, Denmark.; Pal S; Institute of Genetics and Genomics, Sir Ganga Ram Hospital, Rajender Nagar, New Delhi, India.; Pallais JC; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.; Pavillard F; Département d'Anesthésie-Réanimation Gui de Chauliac, Centre Hospitalier Universitaire de Montpellier, Montpellier, France.; Perrigault PF; Département d'Anesthésie-Réanimation Gui de Chauliac, Centre Hospitalier Universitaire de Montpellier, Montpellier, France.; Petersen AK; Randall Children's Hospital, Portland, OR, USA.; Polo G; Département de Neurochirurgie Fonctionnelle, Hôpital Neurologique et Neurochirurgical, Pierre Wertheimer, Lyon, France.; Poulen G; Département de Neurochirurgie, Unité des Pathologies Cérébrales Résistantes, Unité de Recherche sur les Comportements et Mouvements Anormaux, Hôpital Gui de Chauliac, Centre Hospitalier Régional Montpellier, Montpellier, France.; Faculté de médecine, Université de Montpellier, France.; Rinne T; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Roujeau T; Département de Neurochirurgie, Unité des Pathologies Cérébrales Résistantes, Unité de Recherche sur les Comportements et Mouvements Anormaux, Hôpital Gui de Chauliac, Centre Hospitalier Régional Montpellier, Montpellier, France.; Rogers C; Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, OR, USA.; Roubertie A; Département de Neuropédiatrie, Hôpital Universitaire de Montpellier, Montpellier, France.; INSERM U1051, Institut des Neurosciences de Montpellier, Montpellier, France.; Sahagian M; Division of Neurology, Rady Children's Hospital San Diego, CA, USA.; Department of Neuroscience, University of California San Diego, CA, USA.; Schaefer E; Medical Genetics, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.; Selim L; Cairo University Children Hospital, Pediatric Neurology and Metabolic division, Cairo, Egypt.; Selway R; Department of Neurosurgery, King's College Hospital, London, UK.; Sharma N; Department of Neurology, Massachusetts General Hospital, Boston, MA, USA.; Department of Neurology, Harvard Medical School, Boston, MA, USA.; Department of Neurology, Brigham and Women's Hospital, Boston, MA, USA.; Signer R; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.; Soldatos AG; Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Stevenson DA; Division of Medical Genetics, Department of Pediatrics, Stanford University, Palo Alto, CA, USA.; Stewart F; Department of Genetic Medicine, Belfast Health and Social Care Trust, Belfast, UK.; Tchan M; Sydney Medical School, University of Sydney, Sydney, NSW, Australia.; Department of Genetics, Westmead Hospital, Westmead, NSW, Australia.; Verma IC; Institute of Genetics and Genomics, Sir Ganga Ram Hospital, Rajender Nagar, New Delhi, India.; de Vries BBA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Wilson JL; Division of Pediatric Neurology, Department of Pediatrics, Oregon Health and Science University, Portland, OR, USA.; Wong DA; Division of Medical Genetics, Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.; Zaitoun R; Department of Paediatrics, Neurology Division, Ain Shams University Hospital, Cairo, Egypt.; Zhen D; Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, OR, USA.; Znaczko A; Department of Genetic Medicine, Belfast Health and Social Care Trust, Belfast, UK.; Dale RC; Department of Paediatric Neurology, The Children's Hospital at Westmead, NSW, Australia.; Faculty of Medicine and Health, Sydney Medical School, University of Sydney, Sydney NSW, Australia.; de Gusmão CM; Department of Neurology, Harvard Medical School, Boston, MA, USA.; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Friedman J; Division of Neurology, Rady Children's Hospital San Diego, CA, USA.; Department of Neuroscience, University of California San Diego, CA, USA.; Departments of Paediatrics, University of California, San Diego, CA, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA.; Fung VSC; Movement Disorders Unit, Department of Neurology, Westmead Hospital, Westmead, NSW, Australia.; Sydney Medical School, University of Sydney, Sydney, NSW, Australia.; King MD; Department of Paediatric Neurology and Clinical Neurophysiology, Children's Health Ireland at Temple Street, Dublin, Ireland.; UCD School of Medicine and Medical Science, University College Dublin, Dublin, Ireland.; Mohammad SS; Department of Paediatric Neurology, The Children's Hospital at Westmead, NSW, Australia.; Faculty of Medicine and Health, Sydney Medical School, University of Sydney, Sydney NSW, Australia.; Rohena L; Division of Medical Genetics, Department of Pediatrics, San Antonio Military Medical Center, San Antonio, TX, USA.; Department of Pediatrics, Long School of Medicine, UT Health, San Antonio, TX, USA.; Waugh JL; Division of Pediatric Neurology, Department of Pediatrics, University of Texas Southwestern, Dallas, TX, USA.; Toro C; Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Raymond FL; NIHR BioResource, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.; Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK.; Topf M; Institute of Structural and Molecular Biology, Department of Biological Sciences, Birkbeck College, University of London, London, UK.; Coubes P; Département de Neurochirurgie, Unité des Pathologies Cérébrales Résistantes, Unité de Recherche sur les Comportements et Mouvements Anormaux, Hôpital Gui de Chauliac, Centre Hospitalier Régional Montpellier, Montpellier, France.; Faculté de médecine, Université de Montpellier, France.; Gorman KM; Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.; Department of Neurology, Great Ormond Street Hospital, London, UK.; Kurian MA; Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.; Department of Neurology, Great Ormond Street Hospital, London, UK.

Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

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A retrospective study of adult patients with noncirrhotic hyperammonemia.

Academic Journal

Stergachis AB; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Mogensen KM; Department of Nutrition, Brigham and Women's Hospital, Boston, Massachusetts, USA.; Khoury CC; Renal Division, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Lin AP; Department of Radiology, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Peake RW; Department of Laboratory Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Baker JJ; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Barkoudah E; Hospital Medicine Unit, Division of General Internal Medicine, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Sahai I; Division of Medical Genetics and Metabolism, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Sweetser DA; Division of Medical Genetics and Metabolism, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Berry GT; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Krier JB; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, USA.

Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE

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Diagnostic yield and utility of neurovascular ultrasonography in the evaluation of patients with syncope.

Academic Journal

Schnipper JL; Ackerman RH; Krier JB; Honour M; Schnipper, Jeffrey L; Ackerman, Robert H; Krier, Joel B; Honour, Melissa

Mayo Clinic Proceedings. Apr2005, Vol. 80 Issue 4, p480-488. 9p.

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Summarizing polygenic risks for complex diseases in a clinical whole-genome report

Academic Journal

Leshchiner, Ignaty; Krier, Joel; Bates, David W; Carere, Alexis D; Cirino, Allison; Connor, Lauren; Christensen, Kurt D; Duggan, Jake; Green, Robert C; Ho, Carolyn Y; Krier, Joel B; Lane, William J; Lautenbach, Denise M; Lehmann, Lisa; Liu, Christina; MacRae, Calum A; Miller, Rachel; Morton, Cynthia C; Seidman, Christine E; Sunyaev, Shamil; Vassy, Jason L; Aronson, Sandy; Ceyhan-Birsoy, Ozge; Gowrisankar, Siva; Lebo, Matthew S; Leschiner, Ignat; Machini, Kalotina; McLaughlin, Heather M; Metterville, Danielle R; Rehm, Heidi L; Blumenthal-Barby, Jennifer; Feuerman, Lindsay Zausmer; McGuire, Amy L; Panchang, Sarita; Robinson, Jill Oliver; Slashinski, Melody J; Alexander, Stewart C; Davis, Kelly; Ubel, Peter A; Kraft, Peter; Roberts, J Scott; Garber, Judy E; Hambuch, Tina; Murray, Michael F; Kohane, Isaac S; Kong, Sek Won; Lee, In-Hee

Leshchiner, I, Krier, J, Bates, D W, Carere, A D, Cirino, A, Connor, L, Christensen, K D, Duggan, J, Green, R C, Ho, C Y, Krier, J B, Lane, W J, Lautenbach, D M, Lehmann, L, Liu, C, MacRae, C A, Miller, R, Morton, C C, Seidman, C E, Sunyaev, S, Vassy, J L, Aronson, S, Ceyhan-Birsoy, O, Gowrisankar, S, Lebo, M S, Leschiner, I, Machini, K, McLaughlin, H M, Metterville, D R, Rehm, H L, Blumenthal-Barby, J, Feuerman, L Z, McGuire, A L, Panchang, S, Robinson, J O, Slashinski, M J, Alexander, S C, Davis, K, Ubel, P A, Kraft, P, Roberts, J S, Garber, J E, Hambuch, T, Murray, M F, Kohane, I S, Kong, S W & Lee, I-H 2015, 'Summarizing polygenic risks for complex diseases in a clinical whole-genome report.', Genetics in medicine : official journal of the American College of Medical Genetics, vol. 17, no. 7. https://doi.org/10.1038/gim.2014.143

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An integrated clinical program and crowdsourcing strategy for genomic sequencing and Mendelian disease gene discovery.

Academic Journal

Haghighi A; 1Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115 USA.; 2Division of Cardiovascular Medicine, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115 USA.; 3Department of Genetics, Harvard Medical School, Boston, MA 02115 USA.; 4Howard Hughes Medical Institute, Brigham and Womens Hospital, Boston, MA 02115 USA.; 5Broad Institute of Harvard and MIT, Cambridge, MA 02142 USA.; Krier JB; 1Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115 USA.; Toth-Petroczy A; 1Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115 USA.; Cassa CA; 1Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115 USA.; 5Broad Institute of Harvard and MIT, Cambridge, MA 02142 USA.; Frank NY; 1Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115 USA.; 5Broad Institute of Harvard and MIT, Cambridge, MA 02142 USA.; Carmichael N; 1Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115 USA.; Fieg E; 1Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115 USA.; Bjonnes A; 1Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115 USA.; Mohanty A; 1Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115 USA.; Briere LC; 6Division of Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114 USA.; Lincoln S; 7Division of Genetics and Genomics, Department of Medicine, Boston Childrens Hospital, Harvard Medical School, Boston, MA 02115 USA.; Lucia S; 7Division of Genetics and Genomics, Department of Medicine, Boston Childrens Hospital, Harvard Medical School, Boston, MA 02115 USA.; Gupta VA; 1Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115 USA.; Söylemez O; 1Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115 USA.; Sutti S; 1Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115 USA.; Kooshesh K; 1Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115 USA.; Qiu H; 1Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115 USA.; Fay CJ; 1Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115 USA.; Perroni V; 1Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115 USA.; Valerius J; 1Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115 USA.; Hanna M; 1Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115 USA.; Frank A; 1Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115 USA.; Ouahed J; 8Division of Gastroenterology, Hepatology and Nutrition, Department of Medicine, Boston Childrens Hospital, Harvard Medical School, Boston, MA 02115 USA.; Snapper SB; 8Division of Gastroenterology, Hepatology and Nutrition, Department of Medicine, Boston Childrens Hospital, Harvard Medical School, Boston, MA 02115 USA.; 9Division of Gastroenterology, Hepatology and Endoscopy, Department of Medicine, Brigham and Womens Hospital, Harvard Medical School, Boston, MA 02115 USA.; Pantazi A; 1Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115 USA.; Chopra SS; 10Dana-Farber Cancer Institute, Boston, MA 02115 USA.; Leshchiner I; 5Broad Institute of Harvard and MIT, Cambridge, MA 02142 USA.; Stitziel NO; 11Cardiovascular Division, Department of Medicine; Department of Genetics; McDonnell Genome Institute, Washington University School of Medicine, St Louis, MO 63110 USA.; Feldweg A; 12Department of Medicine, Brigham and Womens Hospital, Harvard Medical School, Boston, MA 02215 USA.; Mannstadt M; 13Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Harvard Medical School, Boston, MA 02114 USA.; Loscalzo J; 12Department of Medicine, Brigham and Womens Hospital, Harvard Medical School, Boston, MA 02215 USA.; Sweetser DA; 6Division of Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114 USA.; Liao E; 14Division of Plastic and Reconstructive Surgery, Department of Surgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114 USA.; Stoler JM; 7Division of Genetics and Genomics, Department of Medicine, Boston Childrens Hospital, Harvard Medical School, Boston, MA 02115 USA.; Nowak CB; 7Division of Genetics and Genomics, Department of Medicine, Boston Childrens Hospital, Harvard Medical School, Boston, MA 02115 USA.; 15Feingold Center for Children, Childrens Hospital Boston at Waltham, Waltham, MA 02453 USA.; Sanchez-Lara PA; 16Department of Pediatrics, Cedars-Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, CA 90048 USA.; Klein OD; 17Department of Orofacial Sciences, University of California San Francisco, San Francisco, CA 94143 USA.; Perry H; 17Department of Orofacial Sciences, University of California San Francisco, San Francisco, CA 94143 USA.; Patsopoulos NA; 1Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115 USA.; 5Broad Institute of Harvard and MIT, Cambridge, MA 02142 USA.; 18Department of Neurology, Brigham and Womens Hospital, Harvard Medical School, Boston, MA 02115 USA.; Raychaudhuri S; 1Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115 USA.; 5Broad Institute of Harvard and MIT, Cambridge, MA 02142 USA.; 19Division of Rheumatology, Allergy and Immunology, Department of Medicine, Brigham and Womens Hospital and Harvard Medical School, Boston, MA 02115 USA.; 20Institute of Inflammation and Repair, University of Manchester, Manchester, UK.; Goessling W; 1Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115 USA.; 5Broad Institute of Harvard and MIT, Cambridge, MA 02142 USA.; 9Division of Gastroenterology, Hepatology and Endoscopy, Department of Medicine, Brigham and Womens Hospital, Harvard Medical School, Boston, MA 02115 USA.; 10Dana-Farber Cancer Institute, Boston, MA 02115 USA.; Green RC; 1Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115 USA.; 5Broad Institute of Harvard and MIT, Cambridge, MA 02142 USA.; Seidman CE; 2Division of Cardiovascular Medicine, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115 USA.; 3Department of Genetics, Harvard Medical School, Boston, MA 02115 USA.; 4Howard Hughes Medical Institute, Brigham and Womens Hospital, Boston, MA 02115 USA.; 5Broad Institute of Harvard and MIT, Cambridge, MA 02142 USA.; MacRae CA; 1Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115 USA.; 2Division of Cardiovascular Medicine, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115 USA.; 5Broad Institute of Harvard and MIT, Cambridge, MA 02142 USA.; Sunyaev SR; 1Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115 USA.; 5Broad Institute of Harvard and MIT, Cambridge, MA 02142 USA.; Maas RL; 1Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115 USA.; Vuzman D; 1Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115 USA.; 2Division of Cardiovascular Medicine, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115 USA.; 5Broad Institute of Harvard and MIT, Cambridge, MA 02142 USA.

Publisher: Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University Country of Publication: England NLM ID: 101685193 Publication Model: eCollection Cited Medium: Internet ISSN: 2056-7944 (Electronic) Linking ISSN: 20567944 NLM ISO Abbreviation: NPJ Genom Med Subsets: PubMed not MEDLINE

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The BabySeq project: implementing genomic sequencing in newborns.

Academic Journal

Holm IA; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA. ingrid.holm@childrens.harvard.edu.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA. ingrid.holm@childrens.harvard.edu.; Agrawal PB; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Division of Newborn Medicine, Boston Children's Hospital, Boston, MA, USA.; Ceyhan-Birsoy O; Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, MA, USA.; Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.; Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Christensen KD; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA.; Fayer S; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, MA, USA.; Frankel LA; Center for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, TX, USA.; Department of Psychological, Health and Learning Sciences, University of Houston College of Education, Houston, TX, USA.; Genetti CA; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.; Krier JB; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA.; LaMay RC; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, MA, USA.; Levy HL; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; McGuire AL; Center for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, TX, USA.; Parad RB; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Division of Newborn Medicine, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatric Newborn Medicine, Brigham and Women's Hospital, Boston, MA, USA.; Park PJ; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, MA, USA.; Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA.; Pereira S; Center for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, TX, USA.; Rehm HL; Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, MA, USA.; Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.; The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Schwartz TS; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.; Waisbren SE; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Yu TW; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Green RC; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA.; The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Beggs AH; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA. Beggs@enders.tch.harvard.edu.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA. Beggs@enders.tch.harvard.edu.

Publisher: BioMed Central Country of Publication: England NLM ID: 100967804 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2431 (Electronic) Linking ISSN: 14712431 NLM ISO Abbreviation: BMC Pediatr Subsets: MEDLINE

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The Impact of Whole-Genome Sequencing on the Primary Care and Outcomes of Healthy Adult Patients: A Pilot Randomized Trial.

Academic Journal

Vassy JL; From VA Boston Healthcare System, Brigham and Women's Hospital, Harvard Medical School, and Partners HealthCare Personalized Medicine, Boston, Massachusetts; Baylor College of Medicine and UTHealth School of Public Health, Houston, Texas; Oregon Health & Science University, Portland, Oregon; Broad Institute of MIT and Harvard, Cambridge, Massachusetts; and Geisinger Health System, Danville, Pennsylvania.; Christensen KD; From VA Boston Healthcare System, Brigham and Women's Hospital, Harvard Medical School, and Partners HealthCare Personalized Medicine, Boston, Massachusetts; Baylor College of Medicine and UTHealth School of Public Health, Houston, Texas; Oregon Health & Science University, Portland, Oregon; Broad Institute of MIT and Harvard, Cambridge, Massachusetts; and Geisinger Health System, Danville, Pennsylvania.; Schonman EF; From VA Boston Healthcare System, Brigham and Women's Hospital, Harvard Medical School, and Partners HealthCare Personalized Medicine, Boston, Massachusetts; Baylor College of Medicine and UTHealth School of Public Health, Houston, Texas; Oregon Health & Science University, Portland, Oregon; Broad Institute of MIT and Harvard, Cambridge, Massachusetts; and Geisinger Health System, Danville, Pennsylvania.; Blout CL; From VA Boston Healthcare System, Brigham and Women's Hospital, Harvard Medical School, and Partners HealthCare Personalized Medicine, Boston, Massachusetts; Baylor College of Medicine and UTHealth School of Public Health, Houston, Texas; Oregon Health & Science University, Portland, Oregon; Broad Institute of MIT and Harvard, Cambridge, Massachusetts; and Geisinger Health System, Danville, Pennsylvania.; Robinson JO; From VA Boston Healthcare System, Brigham and Women's Hospital, Harvard Medical School, and Partners HealthCare Personalized Medicine, Boston, Massachusetts; Baylor College of Medicine and UTHealth School of Public Health, Houston, Texas; Oregon Health & Science University, Portland, Oregon; Broad Institute of MIT and Harvard, Cambridge, Massachusetts; and Geisinger Health System, Danville, Pennsylvania.; Krier JB; From VA Boston Healthcare System, Brigham and Women's Hospital, Harvard Medical School, and Partners HealthCare Personalized Medicine, Boston, Massachusetts; Baylor College of Medicine and UTHealth School of Public Health, Houston, Texas; Oregon Health & Science University, Portland, Oregon; Broad Institute of MIT and Harvard, Cambridge, Massachusetts; and Geisinger Health System, Danville, Pennsylvania.; Diamond PM; From VA Boston Healthcare System, Brigham and Women's Hospital, Harvard Medical School, and Partners HealthCare Personalized Medicine, Boston, Massachusetts; Baylor College of Medicine and UTHealth School of Public Health, Houston, Texas; Oregon Health & Science University, Portland, Oregon; Broad Institute of MIT and Harvard, Cambridge, Massachusetts; and Geisinger Health System, Danville, Pennsylvania.; Lebo M; From VA Boston Healthcare System, Brigham and Women's Hospital, Harvard Medical School, and Partners HealthCare Personalized Medicine, Boston, Massachusetts; Baylor College of Medicine and UTHealth School of Public Health, Houston, Texas; Oregon Health & Science University, Portland, Oregon; Broad Institute of MIT and Harvard, Cambridge, Massachusetts; and Geisinger Health System, Danville, Pennsylvania.; Machini K; From VA Boston Healthcare System, Brigham and Women's Hospital, Harvard Medical School, and Partners HealthCare Personalized Medicine, Boston, Massachusetts; Baylor College of Medicine and UTHealth School of Public Health, Houston, Texas; Oregon Health & Science University, Portland, Oregon; Broad Institute of MIT and Harvard, Cambridge, Massachusetts; and Geisinger Health System, Danville, Pennsylvania.; Azzariti DR; From VA Boston Healthcare System, Brigham and Women's Hospital, Harvard Medical School, and Partners HealthCare Personalized Medicine, Boston, Massachusetts; Baylor College of Medicine and UTHealth School of Public Health, Houston, Texas; Oregon Health & Science University, Portland, Oregon; Broad Institute of MIT and Harvard, Cambridge, Massachusetts; and Geisinger Health System, Danville, Pennsylvania.; Dukhovny D; From VA Boston Healthcare System, Brigham and Women's Hospital, Harvard Medical School, and Partners HealthCare Personalized Medicine, Boston, Massachusetts; Baylor College of Medicine and UTHealth School of Public Health, Houston, Texas; Oregon Health & Science University, Portland, Oregon; Broad Institute of MIT and Harvard, Cambridge, Massachusetts; and Geisinger Health System, Danville, Pennsylvania.; Bates DW; From VA Boston Healthcare System, Brigham and Women's Hospital, Harvard Medical School, and Partners HealthCare Personalized Medicine, Boston, Massachusetts; Baylor College of Medicine and UTHealth School of Public Health, Houston, Texas; Oregon Health & Science University, Portland, Oregon; Broad Institute of MIT and Harvard, Cambridge, Massachusetts; and Geisinger Health System, Danville, Pennsylvania.; MacRae CA; From VA Boston Healthcare System, Brigham and Women's Hospital, Harvard Medical School, and Partners HealthCare Personalized Medicine, Boston, Massachusetts; Baylor College of Medicine and UTHealth School of Public Health, Houston, Texas; Oregon Health & Science University, Portland, Oregon; Broad Institute of MIT and Harvard, Cambridge, Massachusetts; and Geisinger Health System, Danville, Pennsylvania.; Murray MF; From VA Boston Healthcare System, Brigham and Women's Hospital, Harvard Medical School, and Partners HealthCare Personalized Medicine, Boston, Massachusetts; Baylor College of Medicine and UTHealth School of Public Health, Houston, Texas; Oregon Health & Science University, Portland, Oregon; Broad Institute of MIT and Harvard, Cambridge, Massachusetts; and Geisinger Health System, Danville, Pennsylvania.; Rehm HL; From VA Boston Healthcare System, Brigham and Women's Hospital, Harvard Medical School, and Partners HealthCare Personalized Medicine, Boston, Massachusetts; Baylor College of Medicine and UTHealth School of Public Health, Houston, Texas; Oregon Health & Science University, Portland, Oregon; Broad Institute of MIT and Harvard, Cambridge, Massachusetts; and Geisinger Health System, Danville, Pennsylvania.; McGuire AL; From VA Boston Healthcare System, Brigham and Women's Hospital, Harvard Medical School, and Partners HealthCare Personalized Medicine, Boston, Massachusetts; Baylor College of Medicine and UTHealth School of Public Health, Houston, Texas; Oregon Health & Science University, Portland, Oregon; Broad Institute of MIT and Harvard, Cambridge, Massachusetts; and Geisinger Health System, Danville, Pennsylvania.; Green RC; From VA Boston Healthcare System, Brigham and Women's Hospital, Harvard Medical School, and Partners HealthCare Personalized Medicine, Boston, Massachusetts; Baylor College of Medicine and UTHealth School of Public Health, Houston, Texas; Oregon Health & Science University, Portland, Oregon; Broad Institute of MIT and Harvard, Cambridge, Massachusetts; and Geisinger Health System, Danville, Pennsylvania.

Publisher: American College of Physicians--American Society of Internal Medicine Country of Publication: United States NLM ID: 0372351 Publication Model: Electronic-Print Cited Medium: Internet ISSN: 1539-3704 (Electronic) Linking ISSN: 00034819 NLM ISO Abbreviation: Ann Intern Med Subsets: MEDLINE

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A novel variant in the GNAS complex locus causes Albright hereditary osteodystrophy with pseudopseudohypoparathyroidism.

Academic Journal

Smith JS; Department of Dermatology, Brigham and Women's Hospital, Boston, Massachusetts.; Department of Dermatology, Massachusetts General Hospital, Boston, Massachusetts.; Department of Dermatology, Beth Israel Deaconess Medical Center, Boston, Massachusetts.; Dermatology Program, Boston Children's Hospital, Boston, Massachusetts.; Harvard Medical School, Boston, Massachusetts.; Aldeeri AA; Department of Dermatology, Brigham and Women's Hospital, Boston, Massachusetts.; Harvard Medical School, Boston, Massachusetts.; Department of Genetics, Brigham and Women's Hospital, Boston, Massachusetts.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts.; Department of Internal Medicine, King Saud University Medical City, Riyadh, Saudi Arabia.; Elman SA; Department of Dermatology, Brigham and Women's Hospital, Boston, Massachusetts.; Department of Dermatology, Massachusetts General Hospital, Boston, Massachusetts.; Department of Dermatology, Beth Israel Deaconess Medical Center, Boston, Massachusetts.; Dermatology Program, Boston Children's Hospital, Boston, Massachusetts.; Harvard Medical School, Boston, Massachusetts.; Krier JB; Department of Dermatology, Brigham and Women's Hospital, Boston, Massachusetts.; Department of Genetics, Brigham and Women's Hospital, Boston, Massachusetts.; Merola JF; Department of Dermatology, Brigham and Women's Hospital, Boston, Massachusetts.; Harvard Medical School, Boston, Massachusetts.

Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101665210 Publication Model: eCollection Cited Medium: Print ISSN: 2352-5126 (Print) Linking ISSN: 23525126 NLM ISO Abbreviation: JAAD Case Rep Subsets: PubMed not MEDLINE

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Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases.

Academic Journal

Kobren SN; Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA.; Baldridge D; Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA.; Velinder M; Center for Genomic Discovery, University of Utah, Salt Lake City, UT, USA.; Krier JB; Division of Genetics, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.; LeBlanc K; Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA.; Esteves C; Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA.; Pusey BN; National Human Genome Research Institute (NHGRI) at the National Institutes of Health (NIH), Bethesda, MD, USA.; Züchner S; Department of Human Genetics and Hussman Institute for Human Genomics, University of Miami Health System, Miami, FL, USA.; Blue E; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA, USA.; Lee H; Department of Human Genetics, David Geffen School of Medicine at the University of California, Los Angeles, CA, USA.; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at the University of California, Los Angeles, CA, USA.; Huang A; Department of Human Genetics, David Geffen School of Medicine at the University of California, Los Angeles, CA, USA.; Bastarache L; Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN, USA.; Bican A; Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN, USA.; Cogan J; Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN, USA.; Marwaha S; Stanford Center for Undiagnosed Diseases, Stanford, CA, USA.; Alkelai A; Institute for Genomic Medicine, Columbia University Medical Center, New York City, NY, USA.; Murdock DR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Liu P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Baylor Genetics, Houston, TX, USA.; Wegner DJ; Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA.; Paul AJ; McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, USA.; Sunyaev SR; Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA.; Division of Genetics, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.; Kohane IS; Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA. isaac_kohane@hms.harvard.edu.

Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

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A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay

Academic Journal

Schoch, Kelly; Meng, Linyan; Szelinger, Szabolcs; Bearden, David R; Stray-Pedersen, Asbjorg; Busk, Oyvind L; Stong, Nicholas; Liston, Eriskay; Cohn, Ronald D; Scaglia, Fernando; Rosenfeld, Jill A; Tarpinian, Jennifer; Skraban, Cara M; Deardorff, Matthew A; Friedman, Jeremy N; Akdemir, Zeynep Coban; Walley, Nicole; Mikati, Mohamad A; Kranz, Peter G; Jasien, Joan; McConkie-Rosell, Allyn; McDonald, Marie; Wechsler, Stephanie Burns; Freemark, Michael; Kansagra, Sujay; Freedman, Sharon; Bali, Deeksha; Millan, Francisca; Bale, Sherri; Nelson, Stanley F; Lee, Hane; Dorrani, Naghmeh; Goldstein, David B; Xiao, Rui; Yang, Yaping; Posey, Jennifer E; Martinez-Agosto, Julian A; Lupski, James R; Wangler, Michael F; Shashi, Vandana; Grody, Wayne W; Strom, Samuel P; Vilain, Eric; Deignan, Joshua; Quintero-Rivera, Fabiola; Kantarci, Sibel; Mullegama, Sureni; Kang, Sung-Hae; Alejandro, Mercedes E; Bacino, Carlos A; Balasubramanyam, Ashok; Burrage, Lindsay C; Clark, Gary D; Craigen, William J; Dhar, Shweta U; Emrick, Lisa T; Graham, Brett H; Hanchard, Neil A; Jain, Mahim; Lalani, Seema R; Lee, Brendan H; Lewis, Richard A; Mashid, Azamian S; Moretti, Paolo M; Nicholas, Sarah K; Orange, Jordan S; Potocki, Lorraine; Scott, Daryl A; Tran, Alyssa A; Bellen, Hugo J; Yamamoto, Shinya; Eng, Christine M; Muzny, Donna M; Ward, Patricia A; Gropman, Andrea L; Jiang, Yong-hui; Pena, Loren DM; Spillmann, Rebecca C; Sullivan, Jennifer A; Walley, Nicole M; Beggs, Alan H; Briere, Lauren C; Cooper, Cynthia M; Donnell-Fink, Laurel A; Krieg, Elizabeth L; Krier, Joel B; Lincoln, Sharyn A

American Journal of Human Genetics, vol 100, iss 2

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The Matchmaker Exchange: a platform for rare disease gene discovery.

Academic Journal

Philippakis AA; The Broad Institute of Harvard and MIT, Cambridge, Massachusetts.; Department of Cardiology, Brigham & Women's Hospital, Boston, Massachusetts.; Harvard Medical School, Boston, Massachusetts.; Azzariti DR; Laboratory for Molecular Medicine, Partners Personalized Medicine, Boston, Massachusetts.; Beltran S; Centro Nacional de Análisis Genómico, Barcelona, Spain.; Brookes AJ; Department of Genetics, University of Leicester, Leicester, UK.; Brownstein CA; Harvard Medical School, Boston, Massachusetts.; Division of Genetics and Genomics and the Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts.; Brudno M; Department of Computer Science, University of Toronto, Toronto, Canada.; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, Canada.; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Canada.; Brunner HG; Radboud University Medical Center, Department of Human Genetics, Nijmegen 6500 HB, The Netherlands.; Maastricht University Medical Center, Department of Clinical Genetics, Maastricht 6202AZ, The Netherlands.; Buske OJ; Department of Computer Science, University of Toronto, Toronto, Canada.; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, Canada.; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Canada.; Carey K; Gene Cloud, California.; Doll C; Google Inc, Mountain View, California.; Dumitriu S; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Canada.; Dyke SO; Centre of Genomics and Policy, Faculty of Medicine, McGill University, Quebec, Canada.; den Dunnen JT; Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Firth HV; East Anglian Medical Genetics Service, Box 134, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK.; Gibbs RA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, 77030.; Girdea M; Department of Computer Science, University of Toronto, Toronto, Canada.; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Canada.; Gonzalez M; The Genesis Project Inc, Miami, Florida.; Haendel MA; Department of Medical Informatics and Clinical Epidemiology, Oregon Health & Science University, Portland, Oregon.; Hamosh A; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland.; Holm IA; Harvard Medical School, Boston, Massachusetts.; Division of Genetics and Genomics and the Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts.; Huang L; The Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada.; Hurles ME; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, CB10 1SA, UK.; Hutton B; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, CB10 1SA, UK.; Krier JB; Harvard Medical School, Boston, Massachusetts.; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts, 02115.; Misyura A; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Canada.; Mungall CJ; Genomics Division, Lawrence Berkeley National Laboratory, Berkeley, California.; Paschall J; European Molecular Biology Laboratory European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire, CB10 1SD, UK.; Paten B; UC Santa Cruz Genomics Institute, Santa Cruz, California.; Robinson PN; Institute for Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Berlin 13353, Germany.; Max Planck Institute for Molecular Genetics, Berlin 14195, Germany.; Institute for Bioinformatics, Department of Mathematics and Computer Science, Freie Universität Berlin, Berlin 14195, Germany.; Berlin Brandenburg Center for Regenerative Therapies, Berlin 13353, Germany.; Schiettecatte F; FS Consulting LLC, Salem, Massachusetts, 01970.; Sobreira NL; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland.; Swaminathan GJ; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, CB10 1SA, UK.; Taschner PE; Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Generade Center of Expertise Genomics, University of Applied Sciences Leiden, Leiden, The Netherlands.; Terry SF; Genetic Alliance, Washington, District of Columbia.; Washington NL; Department of Cardiology, Brigham & Women's Hospital, Boston, Massachusetts.; Züchner S; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida.; Boycott KM; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.; Rehm HL; The Broad Institute of Harvard and MIT, Cambridge, Massachusetts.; Harvard Medical School, Boston, Massachusetts.; Laboratory for Molecular Medicine, Partners Personalized Medicine, Boston, Massachusetts.; Department of Pathology, Brigham & Women's Hospital, Boston, Massachusetts.

Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

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Clinical utility of brain MRS imaging of patients with adult-onset non-cirrhotic hyperammonemia.

Academic Journal

Stergachis AB; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA, USA.; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA.; Krier JB; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, MA, USA.; Merugumala SK; Department of Radiology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.; Berry GT; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Lin AP; Department of Radiology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.

Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101624422 Publication Model: eCollection Cited Medium: Print ISSN: 2214-4269 (Print) Linking ISSN: 22144269 NLM ISO Abbreviation: Mol Genet Metab Rep Subsets: PubMed not MEDLINE

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A one-page summary report of genome sequencing for the healthy adult.

Academic Journal

Vassy JL; Division of General Internal Medicine and Primary Care, Boston, Mass., USA.; McLaughlin HM; MacRae CA; Seidman CE; Lautenbach D; Krier JB; Lane WJ; Kohane IS; Murray MF; McGuire AL; Rehm HL; Green RC

Publisher: S. Karger Country of Publication: Switzerland NLM ID: 101474167 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1662-8063 (Electronic) Linking ISSN: 16624246 NLM ISO Abbreviation: Public Health Genomics Subsets: MEDLINE

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A systematic approach to the reporting of medically relevant findings from whole genome sequencing

Academic Journal

Krier, Joel; Lautenbach, Denise; Azzariti, Danielle R; Bates, David W; Carere, Alexis D; Cirino, Allison; Connor, Lauren; Christensen, Kurt D; Duggan, Jake; Green, Robert C; Ho, Carolyn Y; Krier, Joel B; Lane, William J; Lautenbach, Denise M; Lehmann, Lisa; Liu, Christina; MacRae, Calum A; Miller, Rachel; Morton, Cynthia C; Seidman, Christine E; Sunyaev, Shamil; Vassy, Jason L; Aronson, Sandy; Ceyhan-Birsoy, Ozge; Gowrisankar, Siva; Lebo, Matthew S; Leschiner, Ignat; Machini, Kalotina; McLaughlin, Heather M; Metterville, Danielle R; Rehm, Heidi L; Blumenthal-Barby, Jennifer; Feuerman, Lindsay Zausmer; McGuire, Amy L; Panchang, Sarita; Robinson, Jill Oliver; Slashinski, Melody J; Alexander, Stewart C; Davis, Kelly; Ubel, Peter A; Kraft, Peter; Scott Roberts, J; Garber, Judy E; Hambuch, Tina; Murray, Michael F; Kohane, Isaac; Kong, Sek Won

BMC Med Genet
Krier, J, Lautenbach, D, Azzariti, D R, Bates, D W, Carere, A D, Cirino, A, Connor, L, Christensen, K D, Duggan, J, Green, R C, Ho, C Y, Krier, J B, Lane, W J, Lautenbach, D M, Lehmann, L, Liu, C, MacRae, C A, Miller, R, Morton, C C, Seidman, C E, Sunyaev, S, Vassy, J L, Aronson, S, Ceyhan-Birsoy, O, Gowrisankar, S, Lebo, M S, Leschiner, I, Machini, K, McLaughlin, H M, Metterville, D R, Rehm, H L, Blumenthal-Barby, J, Feuerman, L Z, McGuire, A L, Panchang, S, Robinson, J O, Slashinski, M J, Alexander, S C, Davis, K, Ubel, P A, Kraft, P, Scott Roberts, J, Garber, J E, Hambuch, T, Murray, M F, Kohane, I & Kong, S W 2014, 'A systematic approach to the reporting of medically relevant findings from whole genome sequencing.', BMC Medical Genetics, vol. 15. https://doi.org/10.1186/s12881-014-0134-1

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