부산대학교 도서관

Cooperstein, Isabelle B.; Marwaha, Shruti; Ward, Alistair; Kobren, Shilpa N.; Carter, Jennefer N.; Quinlan, Aaron; Elkadri, Abdul; Vanderver, Adeline; Rebelo, Adriana; Beggs, Alan H; La Spada, Albert R; Huang, Alden; Paul, Alex; Miller, Alexander; Bale, Allen; McConkie-Rosell, Allyn; Krokosky, Alyson; Tran, Alyssa A; Gropman, Andrea; Vargas, Andres; Crouse, Andrew B; Stergachis, Andrew; Hurst, Anna; Raper, Anna; Slavotinek, Anne; Nouraee, Arian; Tarakad, Arjun; Andrews, Ashley; McMinn, Ashley; Balasubramanyam, Ashok; Iverson, Ayuko; Pusey Swerdzewski, Barbara N; Anguiano, Beatriz; Afzali, Ben; Solomon, Ben; Martin, Beth A; Russell, Bianca E; Wilk, Brandon M; Mitchell, Breanna; Lanpher, Brendan C; Lee, Brendan H; Fogel, Brent L; Bordini, Brett; Graham, Brett H; Tucker, Brianna; Gelb, Bruce; Korf, Bruce; MacRae, Calum A; Toro, Camilo; Skraban, Cara; Bacino, Carlos A; Pardo-Villamizar, Carlos A; Prada, Carlos; Oladele, Carol; Hendry, Caroline; Smith, Carson A; Shyr, Cathy; Esteves, Cecilia; Xiao, Changrui; Cunningham-Rundles, Charlotte; Reuter, Chloe M; Eng, Christine M; Mayhew, Christopher; Chan, Chun-Hung; Wahl, Colleen E; Welt, Corrine K; Tifft, Cynthia J; Kiley, Dana; Sayer, Dana; Rader, Daniel J; Wegner, Daniel; Miller, Danny E; Scott, Daryl A; Viskochil, Dave; Sweetser, David A; Adams, David R; Barbouth, Deborah; Rao, Deepak A; Oglesbee, Devin; Bonner, Devon; Basel, Donald; Novacic, Donna; velasq, Francisco Bustos; Baldridge, Dustin; Behrens, Edward; Silverman, Edwin K; Seto, Elaine; Kravets, Elijah; Rosenthal, Elisabeth; Worthey, Elizabeth A; Burke, Elizabeth A; Blue, Elizabeth; Chao, Elizabeth C; Fieg, Elizabeth L; Wohler, Elizabeth; Macnamara, Ellen F; Balton, Elsa; Glanton, Emily; Shelkowitz, Emily; Wang, Emily; Mendonca, Eneida; Allenspach, Eric; Gamazon, Eric; Gayle, Eric; Klee, Eric; Vilain, Eric; Davis, Erica; Conboy, Erin; Baldwin, Erin E; McRoy, Erin; Dell'Angelica, Esteban C; Ashley, Euan A; Cole, F Sessions; Vairo, Filippo Pinto E; High, Frances; Vetrini, Francesco; Rossignol, Francis; Hisama, Fuki M; Marth, Gabor; Jarvik, Gail P; Clark, Gary D; Carvalho, George; Berry, Gerard T; Mirzaa, Ghayda; Sirugo, Giorgio; Kilich, Gonench; Bademci, Guney; Mendez, Hector Rodrigo; Wood, Heidi; Taylor, Herman; Tabor, Holly K; Dai, Hongzheng; Chao, Hsiao-Tuan; Xu, Hua; Bellen, Hugo J; Zhang, Hui; Glass, Ian; Lanza, Ian R; Holm, Ingrid A; Kohane, Isaac S; Ward, Isum; Chinn, Ivan; Pallais, J Carl; Sampson, Jacinda B; Orengo, James P; Verbsky, James; Sninsky, Jared; Hom, Jason; Schend, Jason; Kohler, Jennefer N; Morgan, Jennifer; Schymick, Jennifer; Tousseau, Jennifer; Wambach, Jennifer; Douglas, Jessica; Fu, Jiayu; Rosenfeld, Jill A; Shin, Jimann; Stoler, Joan M; Jen, Joanna; Gonzalez, Joanna M; Phillips, John A; Carey, John; Gorzynski, John E; Mulvihill, John J; Davis, Joie; Bernstein, Jonathan A; Whitlock, Jordan; Abdenur, Jose; Loscalzo, Joseph; Cogan, Joy D; Martínez-Agosto, Julian A; Hoover-Fong, Julie; McCarrier, Julie; Alvey, Justin; Darr, Kahlen; Yap, Kai Lee; Callaway, Kaitlin; Leppig, Kathleen A; Page, Kathleen; Sullivan, Kathleen; Sisco, Kathy; Dipple, Katrina; Treat, Kayla M; Hassey, Kelly; Regan-Fendt, Kelly; Schoch, Kelly; Smith, Kevin S; Liaqat, Khurram; Worley, Kim; Ezell, Kimberly; LeBlanc, Kimberly; Blanco, Kirsten; Latchman, Kumarie; Perera, Lakshitha; Rodan, Lance H; Keehan, Laura; Cobban, Laurel A; Blieden, Lauren; Briere, Lauren C; Jeffries, Lauren; Wiel, Laurens; Abi Farraj, Layal F; Petcharet, Leoyklang; Peart, LéShon; Mantcheva, Lili; Solnica-Krezel, Lilianna; Burrage, Lindsay C; Mulvihill, Lindsay; Bastarache, Lisa; Schimmenti, Lisa; Emrick, Lisa T; Botto, Lorenzo; Potocki, Lorraine; Bier, Louise; Rives, Lynette; Wolfe, Lynne A; Barbosa, Mafalda; Steenari, Maija-Rikka; Butte, Manish J; Balwani, Manisha; Delgado, Margaret; Romero, María José Ortuño; Silva, María Paula; Acosta, Maria T; Morimoto, Marie; Nakano-Okuno, Mariko; Shadrina, Mariya; Gerstein, Mark; Wener, Mark; Sabaii, Marla; Horike-Pyne, Martha; Martin, Martin G; Rodriguez, Martin; Koziura, Mary; Velinder, Matt; Coggins, Matthew; Might, Matthew; Robinson, Matthew; Wheeler, Matthew T; Malicdan, MayChristine V; Bell, Megan; Halley, Meghan C; Walker, Melissa; Levanto, Mia; Bamshad, Michael; Wangler, Michael F; Muriello, Michael; Zimmermann, Michael T; Spencer-Manzon, Michele; Leitheiser, Miranda; Mikati, Mohamad; Saifeddine, Mohamad; Hubshman, Monika Weisz; Lek, Monkol; Westerfield, Monte; Tekin, Mustafa; Derar, Nada; Dorrani, Naghmeh; Sobreira, Nara; Parker, Neil H; Hanchard, Neil; Borja, Nicholas; Longo, Nicola; Walley, Nicole M; Dargie, Nitsuh K; Kaufman, Odelya; Kanca, Oguz; Jean-Marie, Orpa; Goddard, Page C; Moretti, Paolo; Ward, Patricia A; Dickson, Patricia; McMullen, Patrick; Auwaerter, Paul; Berger, Paul; Fisher, Paul G; Liu, Pengfei; Byers, Peter; Witmer, Philip Dane; Bayrak-Toydemir, Pinar; Lertwilaiwittaya, Pongtawat; D'Souza, Precilla; Tan, Queenie; Ungar, Rachel A; Evard, Rachel; Li, Rachel; Quarells, Rakale C; Rajagopalan, Ramakrishnan; Alvarez, Raquel L; Blackburn, Reaford; Spillmann, Rebecca C; Ganetzky, Rebecca; Overbury, Rebecca; Barrick, Rebekah; Lewis, Richard A; Chang, Richard; Maas, Richard L; Hamid, Rizwan; Mao, Rong; Marom, Ronit; Corona, Rosario I; Kumar, Runjun; Butterfield, Russell; Attaripour, Sanaz; Nagamani, Sandesh; Emami, Sara; Shuman, Saskia; Lalani, Seema R; Perlman, Seth; Ketkar, Shamika; Sunyaev, Shamil R; Kobren, Shilpa N; Yamamoto, Shinya; Mane, Shrikant; Chanprasert, Sirisak; Nelson, Stanley F; Zuchner, Stephan; Bivona, Stephanie; Ware, Stephanie M; Montgomery, Stephen B; Pak, Stephen C; Boyden, Steven; Bachir, Suha; Dasari, Surendra; Korrick, Susan; Shin, Susan; Sandmeyer, Suzanne; Mozaffar, Tahseen; Skelton, Tammi; Jensen, Tanner D; Mamidi, Tarun KK; Beagle, Taylor; Maurer, Taylor; Washington, Teneasha; Serrano, Teodoro Jerves; Coakley, Terra R; Cassini, Thomas; Nicholas, Thomas J; Schedl, Timothy; Vogel, Tiphanie P; Jobanputra, Vaidehi; Maduro, Valerie V; Shashi, Vandana; Vasiliou, Vasilis; Sybert, Virginia; Cuddapah, Vishnu; Introne, Wendy; Raskind, Wendy; Thorson, Willa; Gahl, William A; Byrd, William E; Craigen, William J; Halstead, Winston; Timp, Winston; Huang, Yan; Karasozen, Yigit; Jiang, Yong-Hui; Manabe, Yuka; Berger, Zackary Dov; Guo, Ziyuan

Genome Medicine. October 21, 2025, Vol. 17 Issue 1

Gold JI; Division of Clinical Genetics, Department of Pediatrics, Cohen Children's Medical Center, Northwell Health, Great Neck, NY 11021, USA; Institute of Health System Science, Feinstein Institutes for Medical Research, Northwell Health, Manhasset, NY 11030, USA.; Elkaim Y; Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA.; Gold NB; Division of Medical Genetics & Metabolism, Massachusetts General Hospital for Children, Boston, MA 02114, USA.; Asher S; Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA.; Raper A; Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA.; Condit C; Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA; Kaiser Permanente, Tysons Corners Medical Center, McLean, VA 22102, USA.; Bogus Z; Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA.; Elysee I; Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA.; Hennessy L; Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA.; Kennedy E; Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA.; Briere LC; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.; Sweetser DA; Division of Medical Genetics & Metabolism, Massachusetts General Hospital for Children, Boston, MA 02114, USA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.; Kripke C; Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA.; Verma A; Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA.; Salmasian H; Division of General Internal Medicine, Brigham and Women's Hospital, Boston, MA 02115, USA.; Landry L; Department of Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA.; Nathanson KL; Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA; Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA.; Kallish S; Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA.; Drivas TG; Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA; Department of Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA. Electronic address: theodore.drivas@pennmedicine.upenn.edu.

Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

McConkie‐Rosell, Allyn; Schoch, Kelly; Sullivan, Jennifer; Spillmann, Rebecca C; Cope, Heidi; Tan, Queenie K‐G; Palmer, Christina GS; Hooper, Stephen R; Shashi, Vandana; 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; Bayrak‐Toydemir, Pinar; Beck, Anita; Beggs, Alan H; Behrens, Edward; Bejerano, Gill; Bennet, Jimmy; Berg‐Rood, Beverly; 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; Coggins, Matthew; Sessions Cole, F; 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; Findley, Laurie C; Fisher, Paul G; Fogel, Brent L; Forghani, Irman; Fresard, Laure; Gahl, William A; Glass, Ian; Godfrey, Rena A

Journal of Genetic Counseling, vol 31, iss 1

Dutta, Debdeep; Briere, Lauren C; Kanca, Oguz; Marcogliese, Paul C; Walker, Melissa A; High, Frances A; Vanderver, Adeline; Krier, Joel; Carmichael, Nikkola; Callahan, Christine; Taft, Ryan J; Simons, Cas; Helman, Guy; Network, Undiagnosed Diseases; Wangler, Michael F; Yamamoto, Shinya; Sweetser, David A; Bellen, Hugo J

Human Molecular Genetics; 5/1/2020, Vol. 29 Issue 9, p1568-1579, 12p

Jangam SV; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.; Briere LC; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.; Jay KL; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.; Andrews JC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.; Walker MA; Department of Neurology, Division of Neurogenetics, Child Neurology, Massachusetts General Hospital, Boston, MA 02114, USA.; Rodan LH; Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA.; High FA; Division of Medical Genetics and Metabolism, Massachusetts General Hospital for Children, Boston, MA 02114, USA.; Yamamoto S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.; Department of Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA.; Sweetser DA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.; Division of Medical Genetics and Metabolism, Massachusetts General Hospital for Children, Boston, MA 02114, USA.; Wangler MF; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.

Publisher: Oxford University Press Country of Publication: United States NLM ID: 0374636 Publication Model: Print Cited Medium: Internet ISSN: 1943-2631 (Electronic) Linking ISSN: 00166731 NLM ISO Abbreviation: Genetics Subsets: MEDLINE

Smits DJ; Department of Clinical Genetics, Erasmus University Medical Center, 3015 GD, Rotterdam, The Netherlands. d.smits@erasmusmc.nl.; Schot R; Department of Clinical Genetics, Erasmus University Medical Center, 3015 GD, Rotterdam, The Netherlands.; Discovery Unit, Department of Clinical Genetics, Erasmus University Medical Center, 3015 GD, Rotterdam, The Netherlands.; Popescu CA; Department of Clinical Genetics, Erasmus University Medical Center, 3015 GD, Rotterdam, The Netherlands.; Dias KR; Neuroscience Research Australia (NeuRA), University of New South Wales, Sydney, Australia.; Ades L; Department of Clinical Genetics, The Children's Hospital at Westmead, Westmead, NSW, Australia.; Specialty of Genomic Medicine, Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia.; Briere LC; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Sweetser DA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Kushima I; Medical Genomics Center, Nagoya University Graduate School of Medicine, Nagoya, Japan.; Department of Psychiatry, Graduate School of Medicine, Nagoya University, Nagoya, Japan.; Aleksic B; Department of Psychiatry, Graduate School of Medicine, Nagoya University, Nagoya, Japan.; Khan S; CENTOGENE GmbH, 18055, Rostock, Germany.; Karageorgou V; CENTOGENE GmbH, 18055, Rostock, Germany.; Ordonez N; CENTOGENE GmbH, 18055, Rostock, Germany.; Sleutels FJGT; Department of Clinical Genetics, Erasmus University Medical Center, 3015 GD, Rotterdam, The Netherlands.; van der Kaay DCM; Department of Pediatrics, Subdivision of Endocrinology, Erasmus University Medical Center, Rotterdam, The Netherlands.; Van Mol C; Department of Pediatrics, GZ Antwerp, Antwerp, Belgium.; Van Esch H; Center for Human Genetics, University Hospitals Leuven, 3000, Leuven, Belgium.; Bertoli-Avella AM; CENTOGENE GmbH, 18055, Rostock, Germany.; Roscioli T; Neuroscience Research Australia (NeuRA), University of New South Wales, Sydney, Australia.; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, Australia.; Mancini GMS; Department of Clinical Genetics, Erasmus University Medical Center, 3015 GD, Rotterdam, The Netherlands.

Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE

Sabeh P; Department of Genetics, CHU Sainte-Justine, Montréal, QC, Canada.; Dumas SA; Department of Anatomy, Physiology, and Genetics, Uniformed Services University of the Health Sciences, F. Edward Herbert School of Medicine, Bethesda, MD 20814, USA.; Maios C; Department of Neuroscience, Université de Montréal, CRCHUM, Montréal, QC, Canada.; Daghar H; Department of Neuroscience, Université de Montréal, CRCHUM, Montréal, QC, Canada.; Korzeniowski M; Department of Anatomy, Physiology, and Genetics, Uniformed Services University of the Health Sciences, F. Edward Herbert School of Medicine, Bethesda, MD 20814, USA.; Rousseau J; Department of Genetics, CHU Sainte-Justine, Montréal, QC, Canada.; Lines M; Department of Clinical and Metabolic Genetics, Alberta Children's Hospital, Calgary, AB, Canada.; Guerin A; Division of Medical Genetics, Department of Pediatrics, Queen's University, Kingston, ON, Canada.; Millichap JJ; Department of Neurology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA.; Landsverk M; Sanford Research, Pediatrics and Rare Diseases Group, University of South Dakota Sanford School of Medicine, Sioux Falls, SD, USA.; Grebe T; Department of Genetics and Metabolism, Phoenix Children Hospital, Phoenix, AZ, USA.; Lindstrom K; BioMarin Pharmaceutical, Inc., 105 Digital Dr., Novato, CA 94949, USA.; Strober J; Department of Child Neurology, University of California, San Francisco, San Francisco, CA, USA.; Ait Mouhoub T; Department of Genetic, University Hospital Center of Reims, Reims, France.; Zweier C; Department of Human Genetics, Inselspital Bern, University of Bern, Bern, Switzerland.; Steinraths M; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.; Hebebrand M; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Callewaert B; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Abou Jamra R; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Kautza-Lucht M; Institute of Human Genetics, University Hospital of Schleswig-Holstein, Kiel, Germany.; Wegler M; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Kruszka P; GeneDx, Gaithersburg, MD, USA.; Kumps C; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Banne E; The Genetic Institute, Wolfson Medical Center, Holon, Israel.; Waberski MB; Pediatric Specialists of Virginia, Fairfax, VA, USA.; Dieux A; Service de génétique clinique du CHU de Lille, Lille, France.; Raible S; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Krantz I; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Medne L; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Pechter K; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Villard L; Aix Marseille University, INSERM, Marseille Medical Genetics Center, MMG, Marseille, France; University of Florence, Florence, Italy.; Guerrini R; Neuroscience and Human Genetics Department, Meyer Children's Hospital IRCCS, Florence, Italy; University of Florence, Florence, Italy.; Bianchini C; Neuroscience and Human Genetics Department, Meyer Children's Hospital IRCCS, Florence, Italy; University of Florence, Florence, Italy.; Barba C; Neuroscience and Human Genetics Department, Meyer Children's Hospital IRCCS, Florence, Italy; University of Florence, Florence, Italy.; Mei D; Neuroscience and Human Genetics Department, Meyer Children's Hospital IRCCS, Florence, Italy.; Blanc X; Medigenome, Swiss Institute of Genomic Medicine, Geneva, Switzerland.; Kallay C; Réseau Hospitalier Neuchâtelois, Neuchâtel, Switzerland.; Ranza E; Medigenome, Swiss Institute of Genomic Medicine, Geneva, Switzerland.; Yang XR; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.; O'Heir E; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Donald KA; Department of Paediatrics and Child Health, Red Cross War Memorial Children's Hospital, University of Cape Town, Rondebosch, South Africa.; Murugasen S; Department of Paediatrics and Child Health, Red Cross War Memorial Children's Hospital, University of Cape Town, Rondebosch, South Africa.; Bruwer Z; Department of Paediatrics and Child Health, Red Cross War Memorial Children's Hospital, University of Cape Town, Rondebosch, South Africa.; Calikoglu M; University of North Carolina, Department of Pediatrics, Division of Genetics and Metabolism, Chapel Hill, NC, USA.; Mathews JM; University of North Carolina, Department of Pediatrics, Division of Genetics and Metabolism, Chapel Hill, NC, USA.; Lesieur-Sebellin M; Service de médecine génomique des maladies rares, Necker Hospital, Paris, France.; Baujat G; University of North Carolina, Department of Pediatrics, Division of Genetics and Metabolism, Chapel Hill, NC, USA.; Derive N; Laboratoire de Biologie Médicale Multi-Sites SeqOIA, Paris, France.; Pierson TM; Departments of Pediatrics and of Neurology, Guerin Children's Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA; Board of Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA.; Murrell JR; Department of Pathology and Laboratory Medicine, Children's Hospital of the University of Pennsylvania, Philadelphia, PA, USA.; Shillington A; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.; Ormieres C; Service de médecine génomique des maladies rares, Necker Hospital, Paris, France.; Rondeau S; Service de médecine génomique des maladies rares, Necker Hospital, Paris, France.; Reis A; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Fernandez-Jaen A; Department of Pediatric Neurology, Hospital Universitario Quirónsalud, Madrid, Spain.; Au PYB; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.; Sweetser DA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Briere LC; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Couque N; Département de Génétique - UF de Génétique Moléculaire Hôpital Robert Debré, Paris, France.; Perrin L; Département de Génétique - UF de Génétique Moléculaire Hôpital Robert Debré, Paris, France.; Schymick J; Santa Clara Valley Medical Center, San Jose, CA, USA.; Gueguen P; Laboratoire de Biologie Médicale Multi-Sites SeqOIA, Paris, France.; Lefebvre M; UF de génétique clinique, Centre Hospitalier Régional d'Orléans, Orléans, France.; Van Andel M; Santa Clara Valley Medical Center, San Jose, CA, USA.; Juusola J; GeneDx, Gaithersburg, MD, USA.; Antonarakis SE; Medigenome, Swiss Institute of Genomic Medicine, Geneva, Switzerland.; Parker JA; Department of Neuroscience, Université de Montréal, CRCHUM, Montréal, QC, Canada.; Burnett BG; Department of Anatomy, Physiology, and Genetics, Uniformed Services University of the Health Sciences, F. Edward Herbert School of Medicine, Bethesda, MD 20814, USA. Electronic address: barrington.burnett@usuhs.edu.; Campeau PM; Department of Genetics, CHU Sainte-Justine, Montréal, QC, Canada. Electronic address: p.campeau@umontreal.ca.

Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

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

Sacoto, Maria J Guillen; Tchasovnikarova, Iva A; Torti, Erin; Forster, Cara; Andrew, E Hallie; Anselm, Irina; Baranano, Kristin W; Briere, Lauren C; Cohen, Julie S; Craigen, William J; Cytrynbaum, Cheryl; Ekhilevitch, Nina; Elrick, Matthew J; Fatemi, Ali; Fraser, Jamie L; Gallagher, Renata C; Guerin, Andrea; Haynes, Devon; High, Frances A; Inglese, Cara N; Kiss, Courtney; Koenig, Mary Kay; Krier, Joel; Lindstrom, Kristin; Marble, Michael; Meddaugh, Hannah; Moran, Ellen S; Morel, Chantal F; Mu, Weiyi; Muller, Eric A; Nance, Jessica; Natowicz, Marvin R; Numis, Adam L; Ostrem, Bridget; Pappas, John; Stafstrom, Carl E; Streff, Haley; Sweetser, David A; Szybowska, Marta; Network, Undiagnosed Diseases; Walker, Melissa A; Wang, Wei; Weiss, Karin; Weksberg, Rosanna; Wheeler, Patricia G; Yoon, Grace; Kingston, Robert E; Juusola, Jane

American Journal of Human Genetics, vol 107, iss 2

Jangam, Sharayu V; Briere, Lauren C; Jay, Kristy L; Andrews, Jonathan C; Walker, Melissa A; Rodan, Lance H; High, Frances A; Undiagnosed Diseases Network; Yamamoto, Shinya; Sweetser, David A; Wangler, Michael F

medRxiv

Ganapathi M; Department of Pathology & Cell Biology, Columbia University Irving Medical Center, New York, New York, USA.; Friocourt G; Univ Brest, Inserm, EFS, UMR1078, France.; Gueguen N; MitoLab, UMR CNRS 6015 - INSERM U1083, MitoVasc Institute, Angers University Hospital, Angers, France.; Friederich MW; Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado, Aurora, Colorado, USA.; Department of Pathology and Laboratory Medicine, Children's Hospital Colorado, Aurora, Colorado, USA.; Le Gac G; Univ Brest, Inserm, EFS, UMR1078, France.; CHRU de Brest, Service de Génétique Médicale et Biologie de la Reproduction, Laboratoire de Génétique Moléculaire et Histocompatibilité, France.; Okur V; Department of Pediatrics, Columbia University Irving Medical Center, New York, New York, USA.; Loaëc N; Univ Brest, Inserm, EFS, UMR1078, France.; Ludwig T; Univ Brest, Inserm, EFS, UMR1078, France.; CHRU de Brest, Service de Génétique Médicale et Biologie de la Reproduction, Laboratoire de Génétique Moléculaire et Histocompatibilité, France.; Ka C; Univ Brest, Inserm, EFS, UMR1078, France.; CHRU de Brest, Service de Génétique Médicale et Biologie de la Reproduction, Laboratoire de Génétique Moléculaire et Histocompatibilité, France.; Tanji K; Department of Pathology & Cell Biology, Columbia University Irving Medical Center, New York, New York, USA.; Marcorelles P; CHRU de Brest, Service d'anatomie cytologie pathologie, CHU et centre de référence des maladies neuromusculaires, Brest, France.; Theodorou E; Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA.; Division of Medical Genetics & Metabolism, Department of Pediatrics, Massachusetts General Hospital, Boston, Massachusetts, USA.; Lignelli-Dipple A; Department of Radiology, Columbia University Irving Medical Center, New York, New York, USA.; Voisset C; Univ Brest, Inserm, EFS, UMR1078, France.; Walker MA; Division of Neurogenetics, Child Neurology, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.; Briere LC; Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA.; Bourhis A; CHRU de Brest, Service d'anatomie cytologie pathologie, CHU et centre de référence des maladies neuromusculaires, Brest, France.; Blondel M; Univ Brest, Inserm, EFS, UMR1078, France.; LeDuc C; Department of Pediatrics, Columbia University Irving Medical Center, New York, New York, USA.; Hagen J; Department of Biomedical Sciences, Columbia University Irving Medical Center, New York, New York, USA.; Cooper C; Department of Radiology, Columbia University Irving Medical Center, New York, New York, USA.; Muraresku C; Department of Pediatrics, Perelman School of Medicine, Philadelphia, Pennsylvania, USA.; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Ferec C; Univ Brest, Inserm, EFS, UMR1078, France.; Garenne A; CHRU de Brest, Service de Pédiatrie, France.; Lelez-Soquet S; CHRU de Brest, Service de Radiologie, France.; Rogers CA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA.; Shen Y; Department of Biomedical Sciences, Columbia University Irving Medical Center, New York, New York, USA.; Strode DK; Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado, Aurora, Colorado, USA.; Bizargity P; Division of Medical Genetics, Cohen Children's Medical Center, New York, New York, USA.; Donald and Barbara Zucker School of Medicine at Hofstra/Northwell, New York, New York, USA.; Iglesias A; Department of Pediatrics, Columbia University Irving Medical Center, New York, New York, USA.; Goldstein A; Department of Pediatrics, Perelman School of Medicine, Philadelphia, Pennsylvania, USA.; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; High FA; Division of Medical Genetics & Metabolism, Department of Pediatrics, Massachusetts General Hospital, Boston, Massachusetts, USA.; Network UD; A complete list of the Undiagnosed Diseases Network members appears in the Supplemental Materials.; Sweetser DA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA.; Division of Medical Genetics & Metabolism, Department of Pediatrics, Massachusetts General Hospital, Boston, Massachusetts, USA.; Ganetzky R; Department of Pediatrics, Perelman School of Medicine, Philadelphia, Pennsylvania, USA.; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Van Hove JLK; Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado, Aurora, Colorado, USA.; Department of Pathology and Laboratory Medicine, Children's Hospital Colorado, Aurora, Colorado, USA.; Procaccio V; MitoLab, UMR CNRS 6015 - INSERM U1083, MitoVasc Institute, Angers University Hospital, Angers, France.; Le Marechal C; Univ Brest, Inserm, EFS, UMR1078, France.; CHRU de Brest, Service de Génétique Médicale et Biologie de la Reproduction, Laboratoire de Génétique Moléculaire et Histocompatibilité, France.; Chung WK; Department of Pediatrics, Columbia University Irving Medical Center, New York, New York, USA.; Department of Medicine, Columbia University Irving Medical Center, New York, New York, 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

Pucel J; MGH Institute of Health Professions, Boston, MA. Electronic address: jennapucel@gmail.com.; Briere LC; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA.; Reuter C; Stanford Center for Undiagnosed Diseases, Cardiovascular Medicine, Stanford University, Palo Alto, CA.; Gochyyev P; MGH Institute of Health Professions, Boston, MA.; LeBlanc K; Department of Biomedical Informatics, Harvard Medical School, Boston, MA.

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

Briere LC; Department of Pediatrics, Division of Medical Genetics and Metabolism, and Center for Genomic Medicine, Massachusetts 02114, USA.; Walker MA; Department of Neurology, Division of Neurogenetics, Child Neurology, Massachusetts 02114, USA.; High FA; Department of Pediatrics, Division of Medical Genetics and Metabolism, Massachusetts 02114, USA.; Cooper C; Department of Internal Medicine, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.; Rogers CA; Department of Pediatrics, Division of Medical Genetics and Metabolism, and Center for Genomic Medicine, Massachusetts 02114, USA.; Callahan CJ; Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts 02115, USA.; Ishimura R; Department of Biochemistry, Niigata University School of Medical and Dental Sciences, Chuo-ku, Niigata 951-8510, Japan.; Ichimura Y; Department of Biochemistry, Niigata University School of Medical and Dental Sciences, Chuo-ku, Niigata 951-8510, Japan.; Caruso PA; Department of Radiology, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.; Sharma N; Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.; Brokamp E; Division of Medical Genetics and Genomic Medicine, Vanderbilt University School of Medicine, Nashville, Tennessee 37232, USA.; Koziura ME; Division of Medical Genetics and Genomic Medicine, Vanderbilt University School of Medicine, Nashville, Tennessee 37232, USA.; Mohammad SS; Kids Neuroscience Center & Children's Hospital at Westmead Clinical School, The University of Sydney, Sydney, New South Wales 2006, Australia.; Dale RC; Kids Neuroscience Center & Children's Hospital at Westmead Clinical School, The University of Sydney, Sydney, New South Wales 2006, Australia.; Riley LG; Rare Diseases Functional Genomics, Kids Research, The Children's Hospital at Westmead and Children's Medical Research Institute, Westmead, New South Wales 2145, Australia.; Discipline of Child & Adolescent Health, University of Sydney, Sydney, New South Wales 2006, Australia.; Phillips JA; Division of Medical Genetics and Genomic Medicine, Vanderbilt University School of Medicine, Nashville, Tennessee 37232, USA.; Komatsu M; Department of Biochemistry, Niigata University School of Medical and Dental Sciences, Chuo-ku, Niigata 951-8510, Japan.; Department of Physiology, Juntendo University School of Medicine, Tokyo 113-8421, Japan.; Sweetser DA; Department of Pediatrics, Division of Medical Genetics and Metabolism, and Center for Genomic Medicine, Massachusetts 02114, USA.

Publisher: Cold Spring Harbor Laboratory Press Country of Publication: United States NLM ID: 101660017 Publication Model: Electronic-Print Cited Medium: Internet ISSN: 2373-2873 (Electronic) Linking ISSN: 23732873 NLM ISO Abbreviation: Cold Spring Harb Mol Case Stud Subsets: MEDLINE

Palmer, Christina GS; McConkie-Rosell, Allyn; Holm, Ingrid A; LeBlanc, Kimberly; Sinsheimer, Janet S; Briere, Lauren C; Dorrani, Naghmeh; Herzog, Matthew R; Lincoln, Sharyn; Schoch, Kelly; Spillmann, Rebecca C; Brokamp, Elly; Undiagnosed Diseases Network

J Genet Couns
Journal of genetic counseling, vol 27, iss 5

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

Pan X; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, United States.; Jan & Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, United States.; Alvarez AN; Department of Molecular Microbiology & Immunology, Oregon Health & Science University, Portland, United States.; Ma M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, United States.; Jan & Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, United States.; Lu S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, United States.; Jan & Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, United States.; Crawford MW; Department of Molecular Microbiology & Immunology, Oregon Health & Science University, Portland, United States.; Briere LC; Center for Genomic Medicine, Massachusetts General Hospital, Boston, United States.; Kanca O; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, United States.; Jan & Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, United States.; Yamamoto S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, United States.; Jan & Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, United States.; Department of Neuroscience, Baylor College of Medicine, Houston, United States.; Sweetser DA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, United States.; Division of Medical Genetics & Metabolism, Massachusetts General Hospital for Children, Boston, United States.; Wilson JL; Division of Pediatric Neurology, Department of Pediatrics, Oregon Health & Science University, Portland, United States.; Napier RJ; Department of Molecular Microbiology & Immunology, Oregon Health & Science University, Portland, United States.; VA Portland Health Care System, Portland, United States.; Division of Arthritis & Rheumatic Diseases, Oregon Health & Science University, Portland, United States.; Pruneda JN; Department of Molecular Microbiology & Immunology, Oregon Health & Science University, Portland, United States.; Bellen HJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, United States.; Jan & Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, United States.; Department of Neuroscience, Baylor College of Medicine, Houston, United States.

Publisher: eLife Sciences Publications, Ltd Country of Publication: England NLM ID: 101579614 Publication Model: Electronic Cited Medium: Internet ISSN: 2050-084X (Electronic) Linking ISSN: 2050084X NLM ISO Abbreviation: Elife Subsets: MEDLINE

Morleo M; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli,' Naples, Italy. Electronic address: morleo@tigem.it.; Venditti R; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy; Department of Molecular Medicine and Medical Biotechnology, University of Naples 'Federico II,' Medical School, Naples, Italy.; Theodorou E; Center for Genomic Medicine, Divisions of Pediatric Hematology/Oncology and Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.; Briere LC; Center for Genomic Medicine, Divisions of Pediatric Hematology/Oncology and Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.; Rosello M; Sorbonne Université, INSERM U968, CNRS UMR 7210, Institut de la Vision, Paris, France.; Tirozzi A; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli,' Naples, Italy; Department of Epidemiology and Prevention, IRCCS NEUROMED, Pozzilli, Italy.; Tammaro R; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy.; Al-Badri N; Sorbonne Université, INSERM U968, CNRS UMR 7210, Institut de la Vision, Paris, France.; High FA; Division of Medical Genetics & Metabolism, Massachusetts General Hospital for Children, Boston, MA 02114, USA.; Shi J; Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore.; Putti E; Sorbonne Université, INSERM U968, CNRS UMR 7210, Institut de la Vision, Paris, France.; Ferrante L; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy.; Cetrangolo V; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy.; Torella A; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli,' Naples, Italy.; Walker MA; Department of Neurology, Division of Neurogenetics, Child Neurology, Massachusetts General Hospital, Boston, MA, USA.; Tenconi R; Clinical Genetics Unit, Department of Women and Children's Health, University of Padova, Padova, Italy.; Iascone M; Medical Genetics, ASST Papa Giovanni XXIII, 24127 Bergamo, Italy.; Mei D; Meyer Children's Hospital IRCCS, Neuroscience Department, Florence, Italy.; Guerrini R; Meyer Children's Hospital IRCCS, Neuroscience Department, Florence, Italy.; van der Smagt J; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.; Kroes HY; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.; van Gassen KLI; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.; Bilal M; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.; Umair M; Medical Genomics Research Department, King Abdullah International Medical Research Center & King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.; Pingault V; Service de Médecine Génomique des Maladies Rares, et Institut Imagine, Hôpital Necker-Enfants Malades, Paris, France.; Attie-Bitach T; Service de Médecine Génomique des Maladies Rares, et Institut Imagine, Hôpital Necker-Enfants Malades, Paris, France.; Amiel J; Service de Médecine Génomique des Maladies Rares, et Institut Imagine, Hôpital Necker-Enfants Malades, Paris, France.; Ejaz R; Division of Genetics, Department of Pediatrics, McMaster Children's Hospital, Hamilton, ON, Canada.; Rodan L; Department of Neurology, Boston Children's Hospital, Boston, MA, USA; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.; Zollino M; Institute of Medical Genetics, A. Gemelli School of Medicine, Catholic University of the Sacred Heart, Rome, Italy.; Agrawal PB; Divisions of Newborn Medicine, Boston Children's Hospital, Boston, MA, USA; Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Del Bene F; Sorbonne Université, INSERM U968, CNRS UMR 7210, Institut de la Vision, Paris, France.; Nigro V; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli,' Naples, Italy.; Sweetser DA; Center for Genomic Medicine, Divisions of Pediatric Hematology/Oncology and Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA. Electronic address: dsweetser@mgh.harvard.edu.; Franco B; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy; Scuola Superiore Meridionale (SSM, School of Advanced Studies), Genomics and Experimental Medicine Program, Naples, Italy; Medical Genetics, Department of Translational Medicine, University of Naples 'Federico II,' Via Sergio Pansini, 80131 Naples, Italy.

Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

Niggl E; Department of Clinical Genetics, Erasmus MC, 3015 GD Rotterdam, the Netherlands; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC, 3015 GD Rotterdam, the Netherlands.; Bouman A; Department of Clinical Genetics, Erasmus MC, 3015 GD Rotterdam, the Netherlands. Electronic address: a.bouman@erasmusmc.nl.; Briere LC; Center for Genomic Medicine and Department of Pediatrics, Massachusetts General Hospital, Boston, MA 02114, USA.; Hoogenboezem RM; Department of Hematology, Erasmus MC, 3015 GD Rotterdam, the Netherlands.; Wallaard I; Department of Clinical Genetics, Erasmus MC, 3015 GD Rotterdam, the Netherlands; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC, 3015 GD Rotterdam, the Netherlands.; Park J; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany.; Admard J; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany; NGS Competence Center Tübingen, Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Wilke M; Department of Clinical Genetics, Erasmus MC, 3015 GD Rotterdam, the Netherlands.; Harris-Mostert EDRO; Department of Clinical Genetics, Erasmus MC, 3015 GD Rotterdam, the Netherlands; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC, 3015 GD Rotterdam, the Netherlands.; Elgersma M; Department of Clinical Genetics, Erasmus MC, 3015 GD Rotterdam, the Netherlands; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC, 3015 GD Rotterdam, the Netherlands.; Bain J; Department of Neurology Division of Child Neurology, Columbia University Irving Medical Center, New York, NY 10032, USA.; Balasubramanian M; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, S5 7AU Sheffield, UK; Department of Oncology & Metabolism, University of Sheffield, S5 7AU Sheffield, UK.; Banka S; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, M13 9PL Manchester, UK.; Benke PJ; Division of Clinical Genetics, Joe DiMaggio Children's Hospital, Hollywood, FL 33021, USA.; Bertrand M; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany.; Blesson AE; Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD 21205, USA.; Clayton-Smith J; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, M13 9PL Manchester, UK.; Ellingford JM; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, M13 9PL Manchester, UK.; Gillentine MA; Department of Laboratories, Seattle Children's Hospital, Seattle, WA 98105, USA.; Goodloe DH; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35233, USA.; Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany; Center for Rare Diseases, University of Tübingen, 72076 Tübingen, Germany.; Jain M; Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD 21205, USA.; Krantz I; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Luu SM; Waisman Center, University of Wisconsin Hospitals and Clinics, Madison, WI 53704, USA; Department of Medical and Molecular Genetics, Indiana University, Indianapolis, IN 46202, USA.; McPheron M; Department of Medical and Molecular Genetics, Indiana University, Indianapolis, IN 46202, USA.; Muss CL; Nemours / AI DuPont Hospital for Children, Wilmington, DE 19803, USA.; Raible SE; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Robin NH; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35233, USA.; Spiller M; Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.; Starling S; Division of Clinical Genetics, Children's Mercy, Kansas City, MO 64108, USA; School of Medicine, University of Missouri- Kansas City, Kansas City, MO 64108, USA.; Sweetser DA; Center for Genomic Medicine and Department of Pediatrics, Massachusetts General Hospital, Boston, MA 02114, USA.; Thiffault I; Division of Clinical Genetics, Children's Mercy, Kansas City, MO 64108, USA; Genomic Medicine Center, Children's Mercy Research Institute, Kansas City, MO 64108, USA; Department of Pathology and Laboratory Medicine, Children's Mercy Kansas City, Kansas City, MO 64108, USA.; Vetrini F; Department of Medical and Molecular Genetics, Indiana University, Indianapolis, IN 46202, USA; Undiagnosed Rare Disease Clinic (URDC), Indiana University, Indianapolis, IN 46202, USA.; Witt D; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany.; Woods E; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, S5 7AU Sheffield, UK.; Zhou D; Division of Clinical Genetics, Children's Mercy, Kansas City, MO 64108, USA; School of Medicine, University of Missouri- Kansas City, Kansas City, MO 64108, USA.; Elgersma Y; Department of Clinical Genetics, Erasmus MC, 3015 GD Rotterdam, the Netherlands; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC, 3015 GD Rotterdam, the Netherlands. Electronic address: y.elgersma@erasmusmc.nl.; van Esbroeck ACM; Department of Clinical Genetics, Erasmus MC, 3015 GD Rotterdam, the Netherlands; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC, 3015 GD Rotterdam, the Netherlands.

Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

Newman, John H; Shaver, Aaron; Sheehan, Jonathan H; Mallal, Simon; Stone, John H; Pillai, Shiv; Bastarache, Lisa; Riebau, Derek; Allard‐Chamard, Hugues; Stone, William M; Perugino, Cory; Pilkinton, Mark; Smith, Scott A; McDonnell, Wyatt J; Capra, John A; Meiler, Jens; Cogan, Joy; Xing, Kelly; Mahajan, Vinay S; Mattoo, Hamid; Hamid, Rizwan; Phillips, John A; Adams, David R; Aday, Aaron; Alejandro, Mercedes E; Allard, Patrick; Ashley, Euan A; Azamian, Mahshid S; Bacino, Carlos A; Balasubramanyam, Ashok; Barseghyan, Hayk; Batzli, Gabriel F; Beggs, Alan H; Behnam, Babak; Bellen, Hugo J; Bernstein, Jonathan A; Bican, Anna; Bick, David P; Birch, Camille L; Bonner, Devon; Boone, Braden E; Bostwick, Bret L; Briere, Lauren C; Brown, Donna M; Brush, Matthew; Burke, Elizabeth A; Burrage, Lindsay C; Butte, Manish J; Chen, Shan; Clark, Gary D; Coakley, Terra R; Cooper, Cynthia M; Cope, Heidi; Craigen, William J; D'Souza, Precilla; Davids, Mariska; Davidson, Jean M; Dayal, Jyoti G; Dell'Angelica, Esteban C; Dhar, Shweta U; Dipple, Katrina M; Donnell‐Fink, Laurel A; Dorrani, Naghmeh; Dorset, Daniel C; Douine, Emilie D; Draper, David D; Dries, Annika M; Eckstein, David J; Emrick, Lisa T; Eng, Christine M; Enns, Gregory M; Eskin, Ascia; Esteves, Cecilia; Estwick, Tyra; Fernandez, Liliana; Ferreira, Carlos; Fisher, Paul G; Fogel, Brent L; Friedman, Noah D; Gahl, William A; Glanton, Emily; Godfrey, Rena A; Goldman, Alica M; Goldstein, David B; Gould, Sarah E; Gourdine, Jean‐Philippe F; Groden, Catherine A; Gropman, Andrea L; Haendel, Melissa; Hanchard, Neil A; Handley, Lori H; Herzog, Matthew R; High, Francis; Holm, Ingrid A; Hom, Jason; Howerton, Ellen M; Huang, Yong; Jamal, Fariha; Jiang, Yong‐hui; Johnston, Jean M

Mol Genet Genomic Med
Molecular Genetics & Genomic Medicine, Vol 7, Iss 6, Pp n/a-n/a (2019)
Molecular Genetics & Genomic Medicine, vol 7, iss 6

Lino Cardenas CL; Cardiovascular Research Center, Massachusetts General Hospital, Boston, Massachusetts, USA.; Harvard Medical School, Boston, Massachusetts, USA.; Briere LC; Division of Genetics.; Undiagnosed Disease Network.; Center for Genomic Medicine.; Sweetser DA; Harvard Medical School, Boston, Massachusetts, USA.; Division of Genetics.; Undiagnosed Disease Network.; Lindsay ME; Cardiovascular Research Center, Massachusetts General Hospital, Boston, Massachusetts, USA.; Harvard Medical School, Boston, Massachusetts, USA.; Cardiovascular Genetics Program, and.; Musolino PL; Harvard Medical School, Boston, Massachusetts, USA.; Center for Genomic Medicine.; Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.

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