부산대학교 도서관

Guan, Qiaoning ; Balciuniene, Jorune ; Cao, Kajia ; Fan, Zhiqian ; Biswas, Sawona ; Wilkens, Alisha ; Gallo, Daniel J ; Bedoukian, Emma ; Tarpinian, Jennifer ; Jayaraman, Pushkala ; Sarmady, Mahdi ; Dulik, Matthew ; Santani, Avni ; Spinner, Nancy ; Abou Tayoun, Ahmad N ; Krantz, Ian D ; Conlin, Laura K ; Luo, Minjie

In Genetics in Medicine December 2018 20(12):1600-1608

Conlin, Laura K; Landrum, Melissa J; Freimuth, Robert R; Funke, Birgit

Clinical Chemistry; Jan2025, Vol. 71 Issue 1, p45-53, 9p

Luo, Minjie; Wong, Derek; Zelley, Kristin; Wu, Jinhua; Schubert, Jeffery; Denenberg, Elizabeth H; Fanning, Elizabeth A; Chen, Jiani; Gallo, Daniel; Golenberg, Netta; Patel, Maha; Conlin, Laura K; Maxwell, Kara N; Wertheim, Gerald B; Surrey, Lea F; Zhong, Yiming; Brodeur, Garrett M; MacFarland, Suzanne P; Li, Marilyn M

JNCI: Journal of the National Cancer Institute. Aug2024, Vol. 116 Issue 8, p1356-1365. 10p.

Hayeck, Tristan J; Li, Yang; Mosbruger, Timothy L; Bradfield, Jonathan P; Gleason, Adam G; Damianos, George; Shaw, Grace Tzun-Wen; Duke, Jamie L; Conlin, Laura K; Turner, Tychele N; Fernández-Viña, Marcelo A; Sarmady, Mahdi; Monos, Dimitri S

Genome Biology & Evolution. Feb2024, Vol. 16 Issue 2, p1-21. 21p.

Erkut E; Somerville C; Schwartz MLB; McDonald L; Ding Q; Moran OM; Chen X; Manshaei R; Riedijk AS; Schnürer MT; Koboldt DC; Antonarakis SE; Bedoukian EC; Blanc X; Conlin LK; Cox H; Diderich KEM; Dingmann B; Dubourg C; Elmslie F; Escobar LF; Gosselin R; Guillen Sacoto MJ; Haag CD; Herzig L; Jeeneea R; Kenia P; Kolokotronis K; Kopps AM; Kupper C; Lees H; Leonard J; Levy J; Littlejohn R; Mayer D; McBride KL; McLean SD; Pattani N; Perrin L; Pingault V; Quelin C; Ranza E; Rauch A; Reichert SL; Rosmaninho-Salgado J; Skraban C; Sousa S; Stuebben M; Zanoni P; Kim RH; Scott IC; Jobling RK

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

Dharmadhikari AV; Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, CA, 90027, USA.; Keck School of Medicine, University of Southern California, Los Angeles, CA, 90033, USA.; Abad MA; Institute of Cell Biology, University of Edinburgh, Edinburgh, United Kingdom.; Khan S; Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, 60611, USA.; Departments of Pediatrics and Cell and Developmental Biology, Feinberg School of Medicine, Northwestern University, Chicago, IL, 60611, USA.; Human Molecular Genetics Lab, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE-C), Faisalabad, Pakistan.; Pakistan Institute of Engineering and Applied Sciences (PIEAS), Islamabad, Pakistan.; Maroofian R; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, WC1N 3BG, London, UK.; Sands TT; Department of Neurology, Vagelos College of Physicians and Surgeons, Columbia University, New York, NY, 10032, USA.; Ullah F; Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, 60611, USA.; Departments of Pediatrics and Cell and Developmental Biology, Feinberg School of Medicine, Northwestern University, Chicago, IL, 60611, USA.; Samejima I; Institute of Cell Biology, University of Edinburgh, Edinburgh, United Kingdom.; Shen Y; Translational Research Center for the Nervous System, Brain Cognition and Brain Disease Institute (BCBDI), Shenzhen Institute of Advanced Technology, Chinese Academy of Sciences, 518055, Shenzhen, Guangdong, China.; Faculty of Life and Health sciences, Shenzhen University of Advanced Technology, 518055, Shenzhen, Guangdong, China.; Department of Pediatrics, Chinese PLA General Hospital, Medical School of Chinese People's Liberation Army, 100853, Beijing, China.; Department of Pediatrics, Fujian Medical University Union Hospital, 350001, Fuzhou, China.; Wear MA; Edinburgh Protein Production Facility (EPPF), University of Edinburgh, King's Buildings, Max Born Crescent, Edinburgh, EH9 3BF, UK.; Moore KE; Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, 60611, USA.; Departments of Pediatrics and Cell and Developmental Biology, Feinberg School of Medicine, Northwestern University, Chicago, IL, 60611, USA.; Kondakova E; Institute of Neuroscience, Laboratory of Genetics of Brain Development, National Research Lobachevsky State University of Nizhny Novgorod, 603022, 23 Gagarin avenue, Nizhny, Novgorod, Russia.; Mitina N; Institute of Neuroscience, Laboratory of Genetics of Brain Development, National Research Lobachevsky State University of Nizhny Novgorod, 603022, 23 Gagarin avenue, Nizhny, Novgorod, Russia.; Schaub T; Institute of Cell and Neurobiology, Charité Universitätsmedizin Berlin, 10117, Berlin, Charitéplatz 1, Germany.; Lee GK; Personalized Care (PCARE) Program, Department of Pathology and Laboratory Medicine; The Saban Research Institute, Children's Hospital Los Angeles, Los Angeles, CA, 90027, USA.; Umandap CH; Medical Genetics, DMG Children's Rehabilitative Services, Phoenix, AZ, 85013, USA.; Division of Clinical Genetics, Department of Pediatrics, Columbia University, Vagelos College of Physicians and Surgeons, New York, NY, USA.; Berger SM; Division of Clinical Genetics, Department of Pediatrics, Columbia University, Vagelos College of Physicians and Surgeons, New York, NY, USA.; Iglesias AD; Division of Clinical Genetics, Department of Pediatrics, Columbia University, Vagelos College of Physicians and Surgeons, New York, NY, USA.; Popp B; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Abou Jamra R; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Gabriel H; Praxisfür Humangenetik Tübingen, Tübingen, Germany.; Rentas S; Department of Pathology, Duke University School of Medicine, Durham, NC, USA.; Rippert AL; Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Gray C; Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Izumi K; Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Conlin LK; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Koboldt DC; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA.; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA.; Mosher TM; Ambry Genetics, Aliso Viejo, CA, USA.; Hickey SE; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA.; Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, OH 43205, OH, USA.; Albert DVF; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA.; Division of Neurology, Nationwide Children's Hospital, Columbus, OH 43205, OH, USA.; Norwood H; GeneDx, LLC., Gaithersburg, MD, USA.; Lewanda AF; Rare Disease Institute, Children's National Hospital, Washington, DC, USA.; Dai H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Baylor Genetics, Houston, TX, USA.; Liu P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Baylor Genetics, Houston, TX, USA.; Mitani T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Marafi D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Department of Pediatrics, Faculty of Medicine, Kuwait University, Safat, Kuwait.; Eker HK; Department of Medical Genetics, Konya City Hospital, Konya, Turkey.; Pehlivan D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Lippa NC; Department of Medicine, Columbia University Irving Medical Center, New York, NY, 10032, USA.; Vena N; Department of Medicine, Columbia University Irving Medical Center, New York, NY, 10032, USA.; Heinzen EL; Division of Pharmacotherapy and Experimental Therapeutics, Eshelman School of Pharmacy, University of North Carolina, Chapel Hill, NC, USA.; Department of Genetics, School of Medicine, University of North Carolina, Chapel Hill, NC, USA.; Goldstein DB; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, 10032, USA.; Mignot C; Département de Génétique, APHP Sorbonne Université, 75013, Paris, France.; de Sainte Agathe JM; Department of Medical Genetics, Groupe Hospitalo-Universitaire Pitié-Salpêtrière, AP-HP.Sorbonne Université, Paris, France.; Al-Sannaa NA; Pediatric Services, John Hopkins Aramco Health Care, Dhahran, Saudi Arabia.; Zamani M; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran.; Sadeghian S; Department of Pediatric Neurology, Golestan Medical, Educational, and Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.; Azizimalamiri R; Department of Pediatric Neurology, Golestan Medical, Educational, and Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.; Seifia T; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran.; Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, 12622, Cairo, Egypt.; Abdel-Salam GMH; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, 12622, Cairo, Egypt.; Abdel-Hamid MS; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, 12622, Cairo, Egypt.; Alabdi L; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Dawoud H; Pediatrics Department, Faculty of Medicine, Tanta University, El-Geesh Street, Tanta, 31527, Egypt.; Lofty A; Pediatrics Department, Faculty of Medicine, Tanta University, El-Geesh Street, Tanta, 31527, Egypt.; Bauer P; CENTOGENE GmbH, Am Strande 7, 18055, Rostock, Germany.; Zifarelli G; CENTOGENE GmbH, Am Strande 7, 18055, Rostock, Germany.; Afzal E; Department of Development Pediatrics, The Children's Hospital and The Institute of Child Health, Multan, Pakistan.; Zafar F; Department of Development Pediatrics, The Children's Hospital and The Institute of Child Health, Multan, Pakistan.; Efthymiou S; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, WC1N 3BG, London, UK.; Gossett D; Texas Child Neurology, Plano, TX, 75024, USA.; Neurology Consultants of Dallas, Dallas, TX, 75243, USA.; Towne MC; Ambry Genetics, Aliso Viejo, CA, USA.; Yeneabat R; Departments of Pathology and Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, 21205, USA.; Perez-Duenas B; Department of Paediatric Neurology, Hospital Vall d'Hebron, Barcelona, Spain.; Vall d'Hebron Research Institute, Barcelona, Spain.; Department of Paediatrics, Universitat Autònoma de Barcelona, Barcelona, Spain.; Cazurro-Gutierrez A; Vall d'Hebron Research Institute, Barcelona, Spain.; Department of Paediatrics, Universitat Autònoma de Barcelona, Barcelona, Spain.; Verdura E; Vall d'Hebron Research Institute, Barcelona, Spain.; Molecular Biology CORE, Biomedical Diagnostic Center (CDB), Hospital, l Clínic de Barcelona, Barcelona, Spain.; Cantarin-Extremera V; Department of Paediatric Neurology, Hospital Infantil Niño Jesús, Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER (GCV23/ER/3)), ISCIII, Madrid, Spain.; Marques ADV; Gene Center, Department of Biochemistry, Ludwig-Maximilians Universität, Munich, Germany.; Helwak A; Institute of Cell Biology, University of Edinburgh, Edinburgh, United Kingdom.; Tollervey D; Institute of Cell Biology, University of Edinburgh, Edinburgh, United Kingdom.; Wontakal SN; Departments of Pathology and Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, 21205, USA.; Aggarwal VS; Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, NY, 10032, USA.; Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Tarabykin V; Institute of Neuroscience, Laboratory of Genetics of Brain Development, National Research Lobachevsky State University of Nizhny Novgorod, 603022, 23 Gagarin avenue, Nizhny, Novgorod, Russia.; Institute of Cell and Neurobiology, Charité Universitätsmedizin Berlin, 10117, Berlin, Charitéplatz 1, Germany.; Ohta S; Institute for Genetic Medicine Pathophysiology, Hokkaido University, Sapporo, Japan.; Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Houlden H; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, WC1N 3BG, London, UK.; Earnshaw WC; Institute of Cell Biology, University of Edinburgh, Edinburgh, United Kingdom.; Davis EE; Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, 60611, USA. eridavis@luriechildrens.org.; Departments of Pediatrics and Cell and Developmental Biology, Feinberg School of Medicine, Northwestern University, Chicago, IL, 60611, USA. eridavis@luriechildrens.org.; Jeyaprakash AA; Institute of Cell Biology, University of Edinburgh, Edinburgh, United Kingdom. jeyaprakash.arulanandam@ed.ac.uk.; Molecular Biology CORE, Biomedical Diagnostic Center (CDB), Hospital, l Clínic de Barcelona, Barcelona, Spain. jeyaprakash.arulanandam@ed.ac.uk.; Liao J; Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, NY, 10032, USA. jl5098@cumc.columbia.edu.

Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

Iwata-Otsubo A; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Rippert AL; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Balciuniene J; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Fiordaliso SK; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Chen R; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Markose P; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Skraban CM; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Roberts Individualized Medical Genetics Center, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.; Gray C; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Roberts Individualized Medical Genetics Center, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Zackai EH; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.; Dubbs HA; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Deardorff MA; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Roberts Individualized Medical Genetics Center, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.; Conlin LK; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.; Izumi K; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Roberts Individualized Medical Genetics Center, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.

Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

Wild KT; Division of Neonatology, Department of Pediatrics, Children's Hospital of Philadelphia, Perelman School of Medicine at University of Pennsylvania, Philadelphia, PA.; Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Perelman School of Medicine at University of Pennsylvania, Philadelphia, PA.; Reichert SL; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Department of Pathology and Laboratory Medicine, Perelman School of Medicine at University of Pennsylvania, Philadelphia, PA.; Dulik MC; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Department of Pathology and Laboratory Medicine, Perelman School of Medicine at University of Pennsylvania, Philadelphia, PA.; Heck A; Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Perelman School of Medicine at University of Pennsylvania, Philadelphia, PA.; Bedoukian EC; Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Perelman School of Medicine at University of Pennsylvania, Philadelphia, PA.; Wood KH; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Department of Pathology and Laboratory Medicine, Perelman School of Medicine at University of Pennsylvania, Philadelphia, PA.; Callahan KP; Division of Neonatology, Department of Pediatrics, Children's Hospital of Philadelphia, Perelman School of Medicine at University of Pennsylvania, Philadelphia, PA.; Department of Medical Ethics and Health Policy, The Perelman School of Medicine at the University of Pennsylvania; Philadelphia, PA.; Hershey JA; Division of Neonatology, Department of Pediatrics, Children's Hospital of Philadelphia, Perelman School of Medicine at University of Pennsylvania, Philadelphia, PA.; Center for Healthcare Quality and Analytics, Children's Hospital of Philadelphia, Philadelphia, PA.; Munson DA; Division of Neonatology, Department of Pediatrics, Children's Hospital of Philadelphia, Perelman School of Medicine at University of Pennsylvania, Philadelphia, PA.; Pechter KB; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Department of Pathology and Laboratory Medicine, Perelman School of Medicine at University of Pennsylvania, Philadelphia, PA.; Regan-Fendt K; Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Perelman School of Medicine at University of Pennsylvania, Philadelphia, PA.; Gacita AM; Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Perelman School of Medicine at University of Pennsylvania, Philadelphia, PA.; Reynoso Santos FJ; Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Perelman School of Medicine at University of Pennsylvania, Philadelphia, PA.; McManus ML; Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Perelman School of Medicine at University of Pennsylvania, Philadelphia, PA.; Burrill N; Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Perelman School of Medicine at University of Pennsylvania, Philadelphia, PA.; Diaz-Miranda MA; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Department of Pathology and Laboratory Medicine, Perelman School of Medicine at University of Pennsylvania, Philadelphia, PA.; Gilbert MA; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Department of Pathology and Laboratory Medicine, Perelman School of Medicine at University of Pennsylvania, Philadelphia, PA.; Krantz ID; Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Perelman School of Medicine at University of Pennsylvania, Philadelphia, PA.; Division of Medical Genetics and Genomics, Cohen Children's Medical Center (CCMC), Northwell Health, Department of Pediatrics, Zucker School of Medicine, Hofstra University, Hempstead, NY.; Rajagopalan R; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Department of Pathology and Laboratory Medicine, Perelman School of Medicine at University of Pennsylvania, Philadelphia, PA.; Conlin LK; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Department of Pathology and Laboratory Medicine, Perelman School of Medicine at University of Pennsylvania, Philadelphia, PA.; Spinner NB; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Department of Pathology and Laboratory Medicine, Perelman School of Medicine at University of Pennsylvania, Philadelphia, PA.

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

Erkut E; Program in Developmental, Stem Cell & Cancer Biology, The Hospital for Sick Children, Toronto, ON, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.; Somerville C; Ted Rogers Centre for Heart Research, Cardiac Genome Clinic, The Hospital for Sick Children, Toronto, ON, Canada.; Schwartz MLB; Ted Rogers Centre for Heart Research, Cardiac Genome Clinic, The Hospital for Sick Children, Toronto, ON, Canada; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, Toronto, ON, Canada.; McDonald L; Program in Developmental, Stem Cell & Cancer Biology, The Hospital for Sick Children, Toronto, ON, Canada.; Ding Q; Ted Rogers Centre for Heart Research, Cardiac Genome Clinic, The Hospital for Sick Children, Toronto, ON, Canada.; Moran OM; Ted Rogers Centre for Heart Research, Cardiac Genome Clinic, The Hospital for Sick Children, Toronto, ON, Canada; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, Toronto, ON, Canada.; Chen X; Ted Rogers Centre for Heart Research, Cardiac Genome Clinic, The Hospital for Sick Children, Toronto, ON, Canada.; Manshaei R; Ted Rogers Centre for Heart Research, Cardiac Genome Clinic, The Hospital for Sick Children, Toronto, ON, Canada.; Riedijk AS; Program in Developmental, Stem Cell & Cancer Biology, The Hospital for Sick Children, Toronto, ON, Canada.; Schnürer MT; Program in Developmental, Stem Cell & Cancer Biology, The Hospital for Sick Children, Toronto, ON, Canada.; Koboldt DC; The Steve and Cindy Rasmussen Institute for Genomic Medicine at Nationwide Children's Hospital, Columbus, OH, USA.; Antonarakis SE; Medigenome, Swiss Institute of Genomic Medicine, Geneva, Switzerland.; Bedoukian EC; Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Blanc X; Medigenome, Swiss Institute of Genomic Medicine, Geneva, Switzerland.; Conlin LK; Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Cox H; Birmingham Women's and Children's Hospital, Birmingham, UK.; Diderich KEM; Department of Clinical Genetics, Erasmus MC, Rotterdam, the Netherlands.; Dingmann B; Seattle Children's Hospital, University of Washington, Seattle, WA, USA.; Dubourg C; Service de Génétique Moléculaire et Génomique, CHU Pontchaillou, Rennes, France.; Elmslie F; St George's University Hospitals NHS Foundation Trust, London, UK.; Escobar LF; Medical Genetics, Peyton Manning Children's Hospital, Ascension Health, Indianapolis, IN, USA.; Gosselin R; Division of Genetic and Genomic Medicine at Nationwide Children's Hospital, Columbus, OH, USA.; Guillen Sacoto MJ; GeneDx LLC, Gaithersburg, MD, USA.; Haag CD; Medical Genetics, Ascension St. Vincent, Indianapolis, IN, USA.; Herzig L; Seattle Children's Hospital, University of Washington, Seattle, WA, USA.; Jeeneea R; Birmingham Women's and Children's Hospital, Birmingham, UK.; Kenia P; Birmingham Women's and Children's NHS Trust, Birmingham, UK.; Kolokotronis K; Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.; Kopps AM; Genetica AG, Zurich, Switzerland.; Kupper C; Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.; Lees H; Exeter Genomics Laboratory, Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK.; Leonard J; Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Levy J; Genetics Department, AP-HP, Robert Debré University Hospital, Paris, France.; Littlejohn R; Baylor College of Medicine, Houston, TX, USA.; Mayer D; Genetica AG, Zurich, Switzerland.; McLean SD; Baylor College of Medicine, Houston, TX, USA.; Pattani N; St George's University Hospitals NHS Foundation Trust, London, UK.; Perrin L; Genetics Department, AP-HP, Robert Debré University Hospital, Paris, France.; Pingault V; Service de Médecine Génomique des Maladies Rares, AP-HP, Hôpital Necker, Université Paris Cité, Paris, France.; Quelin C; Service de Génétique Clinique, CLAD Ouest, CHU Rennes, Rennes, France.; Ranza E; Medigenome, Swiss Institute of Genomic Medicine, Geneva, Switzerland.; Rauch A; Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.; Reichert SL; Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Rosmaninho-Salgado J; Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.; Skraban C; Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Sousa S; Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.; Stuebben M; Baylor College of Medicine, Houston, TX, USA.; Zanoni P; Genetica AG, Zurich, Switzerland; Luzerner Kantonsspital, Lucerne, Switzerland.; Kim RH; Ted Rogers Centre for Heart Research, Cardiac Genome Clinic, The Hospital for Sick Children, Toronto, ON, Canada; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, Toronto, ON, Canada; Fred A. Litwin Family Centre in Genetic Medicine, University Health Network, Department of Medicine, University Health Network, Toronto, ON, Canada.; Scott IC; Program in Developmental, Stem Cell & Cancer Biology, The Hospital for Sick Children, Toronto, ON, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada. Electronic address: ian.scott@sickkids.ca.; Jobling RK; Ted Rogers Centre for Heart Research, Cardiac Genome Clinic, The Hospital for Sick Children, Toronto, ON, Canada; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, Toronto, ON, Canada; Genome Diagnostics, Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON, Canada. Electronic address: rebekah.jobling@sickkids.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

Ghaleb, Yousra El; Schneeberger, Pauline E; Fernández-Quintero, Monica L; Geisler, Stefanie M; Pelizzari, Simone; Polstra, Abeltje M; Hagen, Johanna M van; Denecke, Jonas; Campiglio, Marta; Liedl, Klaus R; Stevens, Cathy A; Person, Richard E; Rentas, Stefan; Marsh, Eric D; Conlin, Laura K; Tuluc, Petronel; Kutsche, Kerstin; Flucher, Bernhard E; El Ghaleb, Yousra; van Hagen, Johanna M

Brain: A Journal of Neurology. Jul2021, Vol. 144 Issue 7, p2092-2106. 15p.

Romasko, Edward J ; Biswas, Sawona ; Devkota, Batsal ; Vijayakumar, Jayaraman ; Jairam, Sowmyra ; Thom, Christopher S ; Dulik, Matthew C ; Conlin, Laura K ; Spinner, Nancy B. ; Krantz, Ian D ; Lambert, Michele P.

In Blood 2 December 2016 128(22):3726-3726

Izumi K; Divisions of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Departments of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Ganetzky RD; Divisions of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Departments of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Departments of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Wertheim GBW; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Departments of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Skraban CM; Divisions of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Departments of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Bedoukian EC; Divisions of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Wilkens A; Divisions of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Fincher C; Divisions of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Thomas NH; Department of Child and Adolescent Psychiatry and Behavioral Sciences, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Departments of Psychiatry, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Ginsberg JP; Departments of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Divisions of Oncology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Rheingold SR; Departments of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Divisions of Oncology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Conlin LK; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Departments of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Deardorff MA; Divisions of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Departments of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.

Publisher: S. Karger Country of Publication: Switzerland NLM ID: 101525192 Publication Model: Print-Electronic Cited Medium: Print ISSN: 1661-8769 (Print) Linking ISSN: 16618769 NLM ISO Abbreviation: Mol Syndromol Subsets: PubMed not MEDLINE

Luo M; Department of Pathology and Laboratory Medicine, Division of Genomic Diagnostics, Children's Hospital of Philadelphia, United States.; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, United States.; Conlin LK; Department of Pathology and Laboratory Medicine, Division of Genomic Diagnostics, Children's Hospital of Philadelphia, United States.; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, United States.; Rajagopalan R; Department of Pathology and Laboratory Medicine, Division of Genomic Diagnostics, Children's Hospital of Philadelphia, United States.; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, United States.

Publisher: Oxford University Press Country of Publication: England NLM ID: 9421549 Publication Model: Print Cited Medium: Internet ISSN: 1530-8561 (Electronic) Linking ISSN: 00099147 NLM ISO Abbreviation: Clin Chem Subsets: MEDLINE; PubMed not MEDLINE

Chen R; Department of Pathology and Laboratory Medicine, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Diaz-Miranda MA; Division of Genomic Diagnostics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Aref-Eshghi E; Division of Genomic Diagnostics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Hartman TR; Division of Genetics, Roberts Individualized Medical Genetics Center, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Griffith C; Department of Pediatrics, University of South Florida, Tampa, Florida, USA.; Morrison JL; Division of Genetics, Arnold Palmer Hospital, Orlando, Florida, USA.; Wheeler PG; Division of Genetics, Arnold Palmer Hospital, Orlando, Florida, USA.; Torti E; GeneDx, Gaithersburg, Maryland, USA.; Richard G; GeneDx, Gaithersburg, Maryland, USA.; Kenna M; Department of Otolaryngology and Communication Enhancement, Boston Children's Hospital, Boston, Massachusetts, USA.; Department of Otolaryngology-Head and Neck Surgery, Harvard Medical School, Boston, Massachusetts, USA.; Dechene ET; Division of Genomic Diagnostics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Spinner NB; Department of Pathology and Laboratory Medicine, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Division of Genomic Diagnostics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Bai R; GeneDx, Gaithersburg, Maryland, USA.; Conlin LK; Department of Pathology and Laboratory Medicine, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Division of Genomic Diagnostics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Krantz ID; Division of Genetics, Roberts Individualized Medical Genetics Center, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Amr SS; Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, Cambridge, Massachusetts, USA.; Department of Pathology, Harvard Medical School, Boston, Massachusetts, USA.; Luo M; Department of Pathology and Laboratory Medicine, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Division of Genomic Diagnostics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

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

Conlin LK; Department of Pathology and Laboratory Medicine, Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Aref-Eshghi E; Department of Pathology and Laboratory Medicine, Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; McEldrew DA; Department of Pathology and Laboratory Medicine, Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Luo M; Department of Pathology and Laboratory Medicine, Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Rajagopalan R; Department of Pathology and Laboratory Medicine, Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.

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

Xu F; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.; Aref-Eshghi E; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.; Wu J; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.; Schubert J; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.; Wertheim G; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA.; Bhatti T; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA.; Pogoriler J; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA.; Patel M; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.; Cao K; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.; Long A; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.; Fan Z; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.; Denenberg EH; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.; Fanning EA; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.; Wilmoth DM; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.; Luo M; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA.; Conlin LK; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA.; Dain AS; Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.; Zelley K; Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.; Baldino S; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.; Balamuth N; Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.; MacFarland S; Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA.; Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.; Li MM; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA.; Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.; Zhong Y; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, 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

Schmidt RJ; Children's Hospital Los Angeles, Keck School of Medicine of USC, Los Angeles, CA. Electronic address: rschmidt@chla.usc.edu.; Steeves M; Color Health, Burlingame, CA.; Bayrak-Toydemir P; Department of Pathology, University of Utah Molecular Genetics and Genomics, ARUP Laboratories, Salt Lake City, UT.; Benson KA; School of Pharmacy and Biomolecular Sciences, Royal College of Surgeons in Ireland, Ireland.; Coe BP; Department of Pathology & Lab Medicine, BC Children's & BC Women's Hospitals, Vancouver, Canada.; Conlin LK; Department of Pathology and Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA.; Ganapathi M; Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, NY.; Garcia J; Invitae, San Francisco, CA.; Gollob MH; Inherited Arrhythmia and Cardiomyopathy Program, Division of Cardiology, Toronto General Hospital and Department of Physiology, University of Toronto, Toronto, Ontario, Canada.; Jobanputra V; New York Genome Center, New York, NY; Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, NY.; Luo M; Department of Pathology and Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA.; Ma D; DNA diagnostic lab, Department of Genetics, School of Medicine, Yale University, New Haven, CT.; Maston G; Quest Diagnostics, Inc., Hillsboro, OR.; McGoldrick K; Ambry Genetics, Aliso Viejo, CA.; Palculict TB; GeneDx, Gaithersburg, MD.; Pesaran T; Ambry Genetics, Aliso Viejo, CA.; Pollin TI; University of Maryland School of Medicine, Baltimore, MD.; Qian E; Department of Genetics, Yale University School of Medicine, New Haven, CT.; Rehm HL; Center for Genomics Medicine, Massachusetts General Hospital, Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA.; Riggs ER; Geisinger Autism & Developmental Medicine Institute, Lewisburg, PA.; Schilit SLP; Mass General Brigham, Brigham and Woman's Hospital, Harvard Medical School, Boston, MA.; Sergouniotis PI; Division of Evolution, Infection and Genomics, University of Manchester, Manchester, United Kingdom.; Tvrdik T; Department of Pathology and Laboratory Medicine, Emory University School of Medicine, Atlanta, GA.; Watkins N; Department of Pathology and Laboratory Medicine, Sinai Health System, Toronto, Ontario, Canada Department of Molecular Genetics, University of Toronto, Toronto, Canada.; Zec L; Natera, Inc., Austin, TX.; Zhang W; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH.; Lebo MS; Mass General Brigham, Brigham and Woman's Hospital, Harvard Medical School, Broad Institute of MIT and Harvard, Cambridge, MA. Electronic address: mlebo@bwh.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

Kalish, Jennifer M; Boodhansingh, Kara E; Bhatti, Tricia R; Ganguly, Arupa; Conlin, Laura K; Becker, Susan A; Givler, Stephanie; Mighion, Lindsey; Palladino, Andrew A; Adzick, N Scott; De León, Diva D; Stanley, Charles A; Deardorff, Matthew A

Journal of Medical Genetics. Jan 01, 2016 53(1):53-61

Dharmadhikari AV; Abad MA; Khan S; Maroofian R; Sands TT; Ullah F; Samejima I; Wear MA; Moore KE; Kondakova E; Mitina N; Schaub T; Lee GK; Umandap CH; Berger SM; Iglesias AD; Popp B; Jamra RA; Gabriel H; Rentas S; Rippert AL; Izumi K; Conlin LK; Koboldt DC; Mosher TM; Hickey SE; Albert DVF; Norwood H; Lewanda AF; Dai H; Liu P; Mitani T; Marafi D; Pehlivan D; Posey JE; Lippa N; Vena N; Heinzen EL; Goldstein DB; Mignot C; de Sainte Agathe JM; Al-Sannaa NA; Zamani M; Sadeghian S; Azizimalamiri R; Seifia T; Zaki MS; Abdel-Salam GMH; Abdel-Hamid M; Alabdi L; Alkuraya FS; Dawoud H; Lofty A; Bauer P; Zifarelli G; Afzal E; Zafar F; Efthymiou S; Gossett D; Towne MC; Yeneabat R; Wontakal SN; Aggarwal VS; Rosenfeld JA; Tarabykin V; Ohta S; Lupski JR; Houlden H; Earnshaw WC; Davis EE; Jeyaprakash AA; Liao J

Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE

Rehm HL; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA; Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA; Pathology, Harvard Medical School, Boston, MA. Electronic address: hrehm@mgh.harvard.edu.; Alaimo JT; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO; Department of Pediatrics, School of Medicine, University of Missouri, Kansas City, MO; Genomic Medicine Center, Children's Mercy Hospital, Kansas City, MO.; Aradhya S; Invitae, San Francisco, CA; Department of Pathology, Stanford University School of Medicine, Palo Alto, CA.; Bayrak-Toydemir P; ARUP Laboratories, Salt Lake City, UT; Department of Pathology, University of Utah School of Medicine, Salt Lake City, UT.; Best H; ARUP Laboratories, Salt Lake City, UT; Department of Pathology, University of Utah School of Medicine, Salt Lake City, UT.; Brandon R; GeneDx, LLC, Gaithersburg, MD.; Buchan JG; Genetics Division, Laboratory Medicine and Pathology, University of Washington, Seattle, WA.; Chao EC; Ambry Genetics, Aliso Viejo, CA.; Chen E; Invitae, San Francisco, CA.; Clifford J; Ambry Genetics, Aliso Viejo, CA.; Cohen ASA; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO; Department of Pediatrics, School of Medicine, University of Missouri, Kansas City, MO; Genomic Medicine Center, Children's Mercy Hospital, Kansas City, MO.; Conlin LK; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA; Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA.; Das S; Human Genetics, University of Chicago, Chicago, IL.; Davis KW; Variantyx, Framingham, MA.; Del Gaudio D; Human Genetics, University of Chicago, Chicago, IL.; Del Viso F; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO.; DiVincenzo C; Quest Diagnostics, Marlborough, MA.; Eisenberg M; Women's Health and Genetics, Labcorp, Research Triangle Park, NC.; Guidugli L; Rady Children's Institute for Genomic Medicine, San Diego, CA.; Hammer MB; Rady Children's Institute for Genomic Medicine, San Diego, CA.; Harrison SM; Ambry Genetics, Aliso Viejo, CA.; Hatchell KE; Invitae, San Francisco, CA.; Dyer LH; GeneDx, LLC, Gaithersburg, MD.; Hoang LU; Ambry Genetics, Aliso Viejo, CA.; Holt JM; HudsonAlpha Clinical Services Lab, LLC, Huntsville, AL.; Jobanputra V; Molecular Diagnostics, New York Genome Center, New York, NY; Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, NY.; Karbassi ID; Quest Diagnostics, Marlborough, MA.; Kearney HM; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.; Kelly MA; HudsonAlpha Clinical Services Lab, LLC, Huntsville, AL.; Kelly JM; HudsonAlpha Clinical Services Lab, LLC, Huntsville, AL.; Kluge ML; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.; Komala T; Ambry Genetics, Aliso Viejo, CA.; Kruszka P; GeneDx, LLC, Gaithersburg, MD.; Lau L; Division of Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON, Canada.; Lebo MS; Pathology, Harvard Medical School, Boston, MA; Laboratory for Molecular Medicine, Mass General Brigham, Cambridge, MA.; Marshall CR; Division of Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON, Canada; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada.; McKnight D; Invitae, San Francisco, CA.; McWalter K; GeneDx, LLC, Gaithersburg, MD.; Meng Y; Fulgent Genetics, Temple City, CA.; Nagan N; Women's Health and Genetics, Labcorp, Westborough, MA.; Neckelmann CS; Fulgent Genetics, Temple City, CA.; Neerman N; Variantyx, Framingham, MA.; Niu Z; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.; Paolillo VK; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO.; Paolucci SA; Genetics Division, Laboratory Medicine and Pathology, University of Washington, Seattle, WA.; Perry D; Illumina, Inc, San Diego, CA.; Pesaran T; Ambry Genetics, Aliso Viejo, CA.; Radtke K; Ambry Genetics, Aliso Viejo, CA.; Rasmussen KJ; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.; Retterer K; GeneDx, LLC, Gaithersburg, MD.; Saunders CJ; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO; Genomic Medicine Center, Children's Mercy Hospital, Kansas City, MO; Department of Pediatrics and Pathology, School of Medicine, University of Missouri, Kansas City, MO.; Spiteri E; Department of Pathology, Stanford Medicine, Palo Alto, CA.; Stanley C; Variantyx, Framingham, MA.; Szuto A; Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.; Taft RJ; Illumina, Inc, San Diego, CA.; Thiffault I; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO; Department of Pediatrics, School of Medicine, University of Missouri, Kansas City, MO; Genomic Medicine Center, Children's Mercy Hospital, Kansas City, MO.; Thomas BC; Illumina, Inc, San Diego, CA.; Thomas-Wilson A; Molecular Diagnostics, New York Genome Center, New York, NY.; Thorpe E; Illumina, Inc, San Diego, CA.; Tidwell TJ; ARUP Laboratories, Salt Lake City, UT.; Towne MC; Ambry Genetics, Aliso Viejo, CA.; Zouk H; Pathology, Harvard Medical School, Boston, MA; Laboratory for Molecular Medicine, Mass General Brigham, Cambridge, 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