부산대학교 도서관

Heydeck, Westley ; Fievet, Lorraine ; Davis, Erica E ; Katsanis, Nicholas

In Current Opinion in Cell Biology December 2018 55:139-149

Sun, Bang; Stamou, Maria I; Stockman, Sara L; Campbell, Mark B; Plummer, Lacey; Salnikov, Kathryn B; Kotan, Leman Damla; Topaloglu, A Kemal; Hisama, Fuki M; Davis, Erica E; Seminara, Stephanie B; Balasubramanian, Ravikumar

Journal of Clinical Endocrinology & Metabolism; Apr2025, Vol. 110 Issue 4, p1044-1052, 9p

Davis, Erica E; Katsanis, Nicholas

In Current Opinion in Genetics & Development June 2012 22(3):290-303

Yang, Shu; Zhang, Li; Khan, Kamal; Travers, Jameson; Huang, Ruili; Jovanovic, Vukasin M; Veeramachaneni, Rithvik; Sakamuru, Srilatha; Tristan, Carlos A; Davis, Erica E; Klumpp-Thomas, Carleen; Witt, Kristine L; Simeonov, Anton; Shaw, Natalie D; Xia, Menghang

Endocrinology; Oct2024, Vol. 165 Issue 10, p1-14, 14p

Delvallée, Clarisse; Nicaise, Samuel; Antin, Manuela; Leuvrey, Anne-Sophie; Nourisson, Elsa; Leitch, Carmen C; Kellaris, Georgios; Stoetzel, Corinne; Geoffroy, Véronique; Scheidecker, Sophie; Keren, Boris; Depienne, Christel; Klar, Joakim, PhD, 1974; Dahl, Niklas; Deleuze, Jean-François; Génin, Emmanuelle; Redon, Richard; Demurger, Florence; Devriendt, Koenraad; Mathieu-Dramard, Michèle; Poitou-Bernert, Christine; Odent, Sylvie; Katsanis, Nicholas; Mandel, Jean-Louis; Davis, Erica E; Dollfus, Hélène; Muller, Jean

Clinical Genetics. 99(2):318-324

Khan TN; Advanced Center for Translational and Genetic Medicine, Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.; Department of Pediatrics and Department of Cell and Developmental Biology, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA.; Department of Biological Sciences, National University of Medical Sciences, Rawalpindi, Pakistan.; Liu C; International Peace Maternity and Child Health Hospital, Shanghai Key Laboratory of Embryo Original Diseases, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.; Yap KL; Department of Pathology & Laboratory Medicine, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.; Department of Pathology, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA.; Satti HS; Department of Biological Sciences, National University of Medical Sciences, Rawalpindi, Pakistan.; Khan A; National Institute for Biotechnology and Genetic Engineering College, Pakistan Institute of Engineering and Applied Sciences (NIBGE-C, PIEAS), Faisalabad, Pakistan.; Safeer M; Department of Biotechnology and Genetic Engineering, Hazara University, Mansehra, Pakistan.; Khan S; Advanced Center for Translational and Genetic Medicine, Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.; Department of Pediatrics and Department of Cell and Developmental Biology, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA.; National Institute for Biotechnology and Genetic Engineering College, Pakistan Institute of Engineering and Applied Sciences (NIBGE-C, PIEAS), Faisalabad, Pakistan.; Malik NA; National Institute for Biotechnology and Genetic Engineering College, Pakistan Institute of Engineering and Applied Sciences (NIBGE-C, PIEAS), Faisalabad, Pakistan.; Zhang F; International Peace Maternity and Child Health Hospital, Shanghai Key Laboratory of Embryo Original Diseases, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.; Tariq M; National Institute for Biotechnology and Genetic Engineering College, Pakistan Institute of Engineering and Applied Sciences (NIBGE-C, PIEAS), Faisalabad, Pakistan.; Davis EE; Advanced Center for Translational and Genetic Medicine, Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.; Department of Pediatrics and Department of Cell and Developmental Biology, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA.

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

Khan K; Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.; Tavares E; Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Canada.; Bishara K; Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.; Ozanturk A; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC, USA.; Qebibo L; Malformations and Cerebellar Congenital Diseases Reference Center, Sorbonne Université, Hôpital Trousseau, Paris, France.; Pediatric Molecular Neurogenetics Laboratory, Genetics Department, AP-HP, Sorbonne Université, Hôpital Trousseau, Paris, France.; Frangakis S; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC, USA.; Calame DG; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Meunier I; Institute for Neurosciences of Montpellier (INM), Univ. Montpellier, INSERM, Montpellier, France.; Bocquet B; Institute for Neurosciences of Montpellier (INM), Univ. Montpellier, INSERM, Montpellier, France.; Ploski R; Department of Medical Genetics, Medical University of Warsaw, Warsaw Poland.; Al Khateeb MA; Women's Wellness Research Center and Neonatal Intensive Care Unit, Hamad Medical Corporation, Weill Cornell Medicine, Doha, Qatar.; Marafi D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Department of Pediatrics, Faculty of Medicine, Kuwait University, Kuwait City, Kuwait.; Mansard L; Molecular Genetics Laboratory, University of Montpellier, Montpellier University Hospital, Montpellier, France.; Auragen Laboratory, Plan France Medecine Genomique 2025, Lyon, France.; Damaj L; Department of Clinical Genetics, Competence Center of Inherited Metabolic Disorders, Rennes Hospital, Rennes, France.; Lewis RA; Texas Children's Hospital, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Department of Ophthalmology, Baylor College of Medicine, Houston, TX, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Ullah F; Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.; Arbogast T; Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.; Ogden JP; Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.; Harion M; Malformations and Cerebellar Congenital Diseases Reference Center, Sorbonne Université, Hôpital Trousseau, Paris, France.; Neuropediatrics Department, AP-HP, Sorbonne Université, Hôpital Trousseau, Paris, France.; Willems M; Institute for Neurosciences of Montpellier (INM), Univ. Montpellier, INSERM, Montpellier, France.; Department of Medical Genetics, University of Montpellier, Montpellier University Hospital, Montpellier, France.; Zaki MS; Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Bartolomaeus T; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Roux AF; Molecular Genetics Laboratory, University of Montpellier, Montpellier University Hospital, Montpellier, France.; Auragen Laboratory, Plan France Medecine Genomique 2025, Lyon, France.; Lupski JR; Texas Children's Hospital, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Rydzanicz M; Department of Medical Genetics, Medical University of Warsaw, Warsaw Poland.; Jamra RA; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Ramond F; Auragen Laboratory, Plan France Medecine Genomique 2025, Lyon, France.; Department of Genetics, Centre Hospitalier Universitaire de Saint-Étienne, Saint-Étienne, France.; Heon E; Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Canada.; Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.; Burglen L; Pediatric Molecular Neurogenetics Laboratory, Genetics Department, AP-HP, Sorbonne Université, Hôpital Trousseau, Paris, France.; Developmental Brain Disorders Laboratory, Imagine Institute, INSERM UMR1163, 75015 Paris, France.; Davis EE; Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.; Department of Pediatrics and Department of Cell and Developmental Biology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA.

Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 101653440 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2375-2548 (Electronic) Linking ISSN: 23752548 NLM ISO Abbreviation: Sci Adv Subsets: MEDLINE

Chapman KA; Children's National Rare Disease Institute and Center for Genetic Medicine Research, Washington, DC, USA.; Ullah F; Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA; Department of Pediatrics and Department of Cell and Developmental Biology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA.; Yahiku ZA; Department of Neuroscience, University of Arizona, Tucson, AZ, USA.; Khan S; Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA; Department of Pediatrics and Department of Cell and Developmental Biology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA.; Kodiparthi SV; AIQure LLC, El Paso, TX, USA.; Kellaris G; Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.; White HG; Department of Neuroscience, University of Arizona, Tucson, AZ, USA.; Powell AT; Department of Neuroscience, University of Arizona, Tucson, AZ, USA.; Correia SP; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Stödberg T; Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden; Department of Pediatric Neurology, Karolinska University Hospital, Stockholm, Sweden.; Sofocleous C; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece.; Marinakis NM; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece; Research University Institute for the Study and Prevention of Genetic and Malignant Disease of Childhood, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece; Laboratory of Genetics, Faculty of Medicine, Democritus University of Thrace, Alexandroupolis, Greece.; Fryssira H; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece.; Tsoutsou E; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece.; Traeger-Synodinos J; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece.; Accogli A; Division of Medical Genetics, Department of Medicine, and Department of Human Genetics, McGill University, Montreal, QC, Canada.; Sciruicchio V; Children Epilepsy and EEG Center, Bari, Italy.; Salpietro V; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK; Department of Biotechnological and Applied Clinical Sciences, University of L'Aquila, 67100 L'Aquila, Italy.; Striano P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy; IRCCS Istituto Giannina Gaslini, full member of ERN-EpiCARE, Genova, Italy.; Muss C; Nemours Children's Hospital, Wilmington, DE, USA.; Keren B; Genetic Department, Pitié-Salpêtrière Hospital, AP-HP. Sorbonne University, Paris, France.; Heron D; Genetic Department, Pitié-Salpêtrière Hospital, AP-HP. Sorbonne University, Paris, France.; Berger SI; Children's National Rare Disease Institute and Center for Genetic Medicine Research, Washington, DC, USA.; Pond KW; Department of Cellular and Molecular Medicine, University of Arizona College of Medicine, Tucson, AZ, USA.; Sirimulla S; AIQure LLC, El Paso, TX, USA; Expert Systems Inc., San Diego, CA, USA.; Davis EE; Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA; Department of Pediatrics and Department of Cell and Developmental Biology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA. Electronic address: eridavis@luriechildrens.org.; Bhattacharya MRC; Department of Neuroscience, University of Arizona, Tucson, AZ, USA. Electronic address: marthab1@arizona.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

Yousaf H; Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA; National Institute for Biotechnology and Genetic Engineering College, Pakistan Institute of Engineering and Applied Sciences, Faisalabad 38000, Pakistan.; de Koning MA; Department of Clinical Genetics, Leiden University Medical Center, 2333 ZA Leiden, the Netherlands.; Khan K; Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA.; Gilmore KL; Department of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine, The University of North Carolina School of Medicine, Chapel Hill, NC 27599, USA.; Hoffer MJV; Department of Clinical Genetics, Leiden University Medical Center, 2333 ZA Leiden, the Netherlands.; Kellaris G; Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA.; Lanone S; University Paris Est Creteil, INSERM, IMRB, 94010 Créteil, France.; Dagouassat M; University Paris Est Creteil, INSERM, IMRB, 94010 Créteil, France.; Ullah F; Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA.; Adama van Scheltema PN; Department of Obstetrics and Fetal Diagnosis, Leiden University Medical Center, 2333 ZA Leiden, the Netherlands.; Heron D; Department of Genetics, Pitié-Salpêtrière Hospital, 75013 Paris, France.; Capri Y; Service de Génétique Clinique, CHU Robert Debré, 75019 Paris Cedex, France.; Kuechler A; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, 45147 Essen, Germany.; Schweiger B; Institute of Diagnostic and Interventional Radiology and Neuroradiology, University Hospital Essen, University Duisburg-Essen, 45147 Essen, Germany.; Haak MC; Department of Obstetrics and Fetal Diagnosis, Leiden University Medical Center, 2333 ZA Leiden, the Netherlands.; Keren B; Department of Genetics, Pitié-Salpêtrière Hospital, 75013 Paris, France.; Tran Mau Them F; INSERM UMR1231 GAD, 21000 Dijon, France; Unité Fonctionnelle Innovation en Diagnostic Génomique des maladies rares, CHU Dijon, 21000 Bourgogne, France.; Peeters-Scholte CMPCD; Department of Neurology, Leiden University Medical Center, 2333 ZA Leiden, the Netherlands.; Kaiser FJ; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, 45147 Essen, Germany.; Koopmann TT; Department of Clinical Genetics, Leiden University Medical Center, 2333 ZA Leiden, the Netherlands.; Mei H; Department of Biomedical Data Sciences, Leiden University Medical Center, 2333 ZA Leiden, the Netherlands.; Yalcin B; INSERM UMR 1231, University of Burgundy, 21000 Dijon, France.; Depienne C; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, 45147 Essen, Germany.; Vora NL; Department of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine, The University of North Carolina School of Medicine, Chapel Hill, NC 27599, USA.; Santen GWE; Department of Clinical Genetics, Leiden University Medical Center, 2333 ZA Leiden, the Netherlands.; Davis EE; Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA; Department of Pediatrics and Department of Cell and Developmental Biology, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA. Electronic address: eridavis@luriechildrens.org.

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

Zhou D; Soong Ching Ling Institute of Maternity and Child Health, International Peace Maternity and Child Health Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200030, China.; Shanghai Key Laboratory of Embryo Original Diseases, Shanghai, 200030, China.; Fatima A; Department of Biological and Biomedical Sciences, The Aga Khan University, Karachi, Pakistan.; Ahmed A; Department of Biotechnology and Genetic Engineering, Hazara University, Mansehra, Khyber Pakhtunkhwa, Pakistan.; Afridi TUK; Department of Biological Sciences, National University of Medical Sciences, Rawalpindi, Pakistan.; Khan HN; Department of Pathology and Laboratory Medicine, The Aga Khan University, Karachi, Pakistan.; Ashraf M; Department of Biological and Biomedical Sciences, The Aga Khan University, Karachi, Pakistan.; Naeem M; Department of Biological Sciences, National University of Medical Sciences, Rawalpindi, Pakistan.; Jamal SB; Department of Biological Sciences, National University of Medical Sciences, Rawalpindi, Pakistan.; Hassan I; Department of Biotechnology and Genetic Engineering, Hazara University, Mansehra, Khyber Pakhtunkhwa, Pakistan.; Davis EE; Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.; Department of Pediatrics, Department of Cell and Developmental Biology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA.; Zhang F; Soong Ching Ling Institute of Maternity and Child Health, International Peace Maternity and Child Health Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200030, China.; Shanghai Key Laboratory of Embryo Original Diseases, Shanghai, 200030, China.; Rehman R; Department of Biological and Biomedical Sciences, The Aga Khan University, Karachi, Pakistan. rehana.rehman@aku.edu.; Liu C; Soong Ching Ling Institute of Maternity and Child Health, International Peace Maternity and Child Health Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200030, China. liuchunyu@shsmu.edu.cn.; Shanghai Key Laboratory of Embryo Original Diseases, Shanghai, 200030, China. liuchunyu@shsmu.edu.cn.; Khan TN; Department of Biological Sciences, National University of Medical Sciences, Rawalpindi, Pakistan. tkhan@luriechildrens.org.; Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA. tkhan@luriechildrens.org.; Department of Pediatrics, Department of Cell and Developmental Biology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA. tkhan@luriechildrens.org.

Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 101093320 Publication Model: Electronic Cited Medium: Internet ISSN: 1617-4623 (Electronic) Linking ISSN: 16174623 NLM ISO Abbreviation: Mol Genet Genomics Subsets: MEDLINE

Roychaudhury A; Department of Biology, Chungnam National University, Daejeon, South Korea.; Lee YR; Department of Biology, Chungnam National University, Daejeon, South Korea.; Choi TI; Department of Biology, Chungnam National University, Daejeon, South Korea.; Thomas MG; The University of Leicester Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behavior, University of Leicester, Leicester, UK.; Khan TN; Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.; Yousaf H; Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.; Skinner C; Greenwood Genetic Center, Greenwood, SC, USA.; Maconachie G; The University of Leicester Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behavior, University of Leicester, Leicester, UK.; Division of Ophthalmology and Orthoptics, Health Science School, University of Sheffield, Sheffield, UK.; Crosier M; Human Developmental Biology Resource, Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; Horak H; Department of Neurology, University of Arizona, Tucson, AZ, USA.; Constantinescu CS; Academic Unit of Mental Health and Clinical Neuroscience, University of Nottingham, Nottingham, UK.; Cooper Neurological Institute and Cooper Medical School of Rowan University, Camden, NJ, USA.; Kim TY; Department of Biology, Chungnam National University, Daejeon, South Korea.; Lee KH; Department of Biology, Chungnam National University, Daejeon, South Korea.; Kyung JJ; Department of Biology, Chungnam National University, Daejeon, South Korea.; Wang T; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA.; Ku B; Disease Target Structure Research Center, Korea Research Institute of Bioscience and Biotechnology, Daejeon, South Korea.; Chodirker BN; Department of Pediatrics and Child Health, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, MB, Canada.; Hammer MF; BIO5 Institute, University of Arizona, Tucson, AZ, USA.; Gottlob I; The University of Leicester Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behavior, University of Leicester, Leicester, UK.; Cooper Neurological Institute and Cooper Medical School of Rowan University, Camden, NJ, USA.; Norton WHJ; Department of Genetics and Genome Biology, University of Leicester, Leicester, UK.; Gerlai R; Department of Psychology, University of Toronto Mississauga, Mississauga, ON, Canada.; Kim HG; Neurological Disorders Research Center, Qatar Biomedical Research Institute, Hamad Bin Khalifa University, Doha, Qatar.; Graziano C; Medical Genetics Unit, AUSL Romagna, Cesena, Italy.; Pippucci T; IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.; Iovino E; IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.; Montanari F; IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.; Severi G; IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.; Toro C; NIH Undiagnosed Diseases Program, NIH Office of Rare Diseases Research and NHGRI, Bethesda, MD, USA.; Boerkoel CF; NIH Undiagnosed Diseases Program, NIH Office of Rare Diseases Research and NHGRI, Bethesda, MD, USA.; Cha HS; Department of Biological Sciences, Sungkyunkwan University, Suwon, South Korea.; Choi CY; Department of Biological Sciences, Sungkyunkwan University, Suwon, South Korea.; Kim S; Department of Microbiology & Molecular Biology, Chungnam National University, Daejeon, South Korea.; Yoon JH; Department of Oncology Science, University of Oklahoma, Oklahoma City, OK, USA.; Gilmore K; Division of Maternal Fetal Medicine, Department of Ob/Gyn, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; Vora NL; Division of Maternal Fetal Medicine, Department of Ob/Gyn, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; Davis EE; Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.; Department of Pediatrics, Cell and Developmental Biology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA.; Chudley AE; Department of Pediatrics and Child Health, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, MB, Canada.; Schwartz CE; Greenwood Genetic Center, Greenwood, SC, USA.; Department of Pediatrics and Human Development, College of Human Medicine, Michigan State University, Grand Rapids, MI, USA.; Kim CH; Department of Biology, Chungnam National University, Daejeon, South Korea.

Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7707449 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8249 (Electronic) Linking ISSN: 03645134 NLM ISO Abbreviation: Ann Neurol Subsets: MEDLINE

Willim J; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Woike D; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Greene D; Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Das S; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Pfeifer K; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Yuan W; Department of Pediatrics, Washington University in St Louis School of Medicine, St Louis, MO, USA.; Lindsey A; Department of Pediatrics, Washington University in St Louis School of Medicine, St Louis, MO, USA.; Itani O; Department of Pediatrics, Washington University in St Louis School of Medicine, St Louis, MO, USA.; Böhme AL; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Tibbe D; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Hönck HH; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Hassani Nia F; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Zech M; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.; Institute for Advanced Study, Technical University of Munich, Garching, Germany.; Brunet T; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.; Faivre L; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, CHU Dijon-Bourgogne, Dijon, France.; INSERM-Université de Bourgogne-UMR1231 GAD, Dijon, France.; Sorlin A; INSERM-Université de Bourgogne-UMR1231 GAD, Dijon, France.; Laboratoire de Génomique médicale, Centre NEOMICS, CHU Dijon Bourgogne, Dijon, France.; Vitobello A; INSERM-Université de Bourgogne-UMR1231 GAD, Dijon, France.; Laboratoire de Génomique médicale, Centre NEOMICS, CHU Dijon Bourgogne, Dijon, France.; Smol T; Univ. Lille, CHU Lille, ULR7364 - RADEME, Lille, France.; Colson C; Univ. Lille, CHU Lille, ULR7364 - RADEME, Lille, France.; Baranano K; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Schatz K; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Bayat A; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Dianalund, Denmark.; Department for Regional Health Research, University of Southern Denmark, Odense, Denmark.; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen, Denmark.; Schoch K; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC, USA.; Spillmann R; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC, USA.; Davis EE; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC, USA.; Stanley Manne Children's Research Institute, Ann & Robert H. 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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

Afridi TUK; Department of Biological Sciences, National University of Medical Sciences, Rawalpindi, 46000, Pakistan.; Fatima A; Department of Biological and Biomedical Sciences, The Aga Khan University, Karachi, 74800, Pakistan.; Satti HS; Department of Biological Sciences, National University of Medical Sciences, Rawalpindi, 46000, Pakistan.; Akram Z; Department of Biological Sciences, National University of Medical Sciences, Rawalpindi, 46000, Pakistan.; Yousafzai IK; Department of Biological Sciences, National University of Medical Sciences, Rawalpindi, 46000, Pakistan.; Naeem WB; Department of Biological Sciences, National University of Medical Sciences, Rawalpindi, 46000, Pakistan.; Fatima N; Department of Biological Sciences, National University of Medical Sciences, Rawalpindi, 46000, Pakistan.; Ali A; Department of Biological and Biomedical Sciences, The Aga Khan University, Karachi, 74800, Pakistan.; Iqbal Z; Department of Neurology, Oslo University Hospital, Oslo, Norway.; Khan A; National Institute for Biotechnology and Genetic Engineering College, Pakistan Institute of Engineering and Applied Sciences (NIBGE-C, PIEAS), Faisalabad, Pakistan.; Shahzad M; Department of Neurosurgery, District Headquarter Hospital, Kohat, Pakistan.; Liu C; International Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, 200030, China.; Toft M; Department of Neurology, Oslo University Hospital, Oslo, Norway.; Institute of Clinical Medicine, University of Oslo, Oslo, Norway.; Zhang F; Institute of Medical Genetics and Genomics, Fudan University, Shanghai, 200438, China.; Tariq M; National Institute for Biotechnology and Genetic Engineering College, Pakistan Institute of Engineering and Applied Sciences (NIBGE-C, PIEAS), Faisalabad, Pakistan.; Davis EE; Advanced Center for Translational and Genetic Medicine, Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA. EriDavis@luriechildrens.org.; Department of Pediatrics and Department of Cell and Developmental Biology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA. EriDavis@luriechildrens.org.; Khan TN; Department of Biological Sciences, National University of Medical Sciences, Rawalpindi, 46000, Pakistan. tkhan@luriechildrens.org.; Advanced Center for Translational and Genetic Medicine, Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA. tkhan@luriechildrens.org.; Department of Pediatrics and Department of Cell and Developmental Biology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA. tkhan@luriechildrens.org.

Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 101093320 Publication Model: Electronic Cited Medium: Internet ISSN: 1617-4623 (Electronic) Linking ISSN: 16174623 NLM ISO Abbreviation: Mol Genet Genomics Subsets: MEDLINE

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Khan S; Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, 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.; Focșa IO; University of Medicine and Pharmacy 'Carol Davila', Bucharest, Romania.; Cytogenomic Medical Laboratory, Bucharest, Romania.; Budișteanu M; Psychiatry Research Laboratory, 'Prof. Dr. Alexandru Obregia' Clinical Hospital of Psychiatry, Bucharest, Romania.; Medical Genetic Laboratory, 'Victor Babeș' National Institute of Pathology, Bucharest, Romania.; Department of Medical Genetics, Faculty of Medicine, 'Titu Maiorescu' University, Bucharest, Romania.; Stoica C; University of Medicine and Pharmacy 'Carol Davila', Bucharest, Romania.; Department of Pediatrics, Clinical Institute Fundeni, Bucharest, Romania.; Nedelea F; University of Medicine and Pharmacy 'Carol Davila', Bucharest, Romania.; Genetics Department, Clinical Hospital Filantropia, Bucharest, Romania.; Bohîlțea L; University of Medicine and Pharmacy 'Carol Davila', Bucharest, Romania.; Caba L; Department of Medical Genetics, 'Grigore T. Popa' University of Medicine and Pharmacy, Iași, Romania.; Butnariu L; Department of Medical Genetics, 'Grigore T. Popa' University of Medicine and Pharmacy, Iași, Romania.; Regional Medical Genetics Centre, 'Sf. Maria' Children's Hospital, Iași, Romania.; Pânzaru M; Department of Medical Genetics, 'Grigore T. Popa' University of Medicine and Pharmacy, Iași, Romania.; Regional Medical Genetics Centre, 'Sf. Maria' Children's Hospital, Iași, Romania.; Rusu C; Department of Medical Genetics, 'Grigore T. Popa' University of Medicine and Pharmacy, Iași, Romania.; Regional Medical Genetics Centre, 'Sf. Maria' Children's Hospital, Iași, Romania.; Jurcă C; Department of Genetics, Faculty of Medicine and Pharmacy, University of Oradea, Oradea, Romania.; Department of Pediatrics, 'Dr. Gavril Curteanu' Municipal Clinical Hospital, Oradea, Romania.; Chirita-Emandi A; Emergency Hospital for Children Louis Turcanu, Regional Center of Medical Genetics Timis, Timisoara, Romania.; Victor Babes University of Medicine and Pharmacy Timisoara, Department of Microscopic Morphology Genetics, Center for Genomic Medicine, Timisoara, Romania.; Bănescu C; 'George Emil Palade' University of Medicine, Pharmacy, Sciences and Technology, Târgu Mureş, Romania.; Abbas W; 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.; Sadeghpour A; Center for Human Disease Modeling, Duke University Medical Center, Durham, North Carolina, USA.; Duke Precision Medicine Program, Department of Medicine, Division of General Internal Medicine, Duke University Medical Center, Durham, NC, USA.; Baig SM; Pakistan Science Foundation (PSF), Islamabad, Pakistan.; Department of Biological and Biomedical Sciences, Agha Khan University Karachi, Karachi, Pakistan.; Bălgrădean M; University of Medicine and Pharmacy 'Carol Davila', Bucharest, Romania.; Department of Pediatrics and Pediatric Nephrology, Emergency Clinical Hospital for Children 'Maria Skłodowska Curie', Bucharest, Romania.; Davis EE; Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.; Department of Pediatrics and Department of Cell and Developmental Biology, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA.

Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Harris SC; Department of Obstetrics and Gynecology, Prisma Health, University of South Carolina Greenville, Greenville, South Carolina, USA.; Chong K; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.; Chitayat D; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.; Gilmore KL; Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, University of North Carolina School of Medicine, Chapel Hill, North Carolina, USA.; Jorge AAL; Unidade de Endocrinologia Genética (LIM25) e Laboratório de Endocrinologia Celular e Molecular, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, Sao Paulo, Brazil.; Freire BL; Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular (LIM42), Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, São Paulo, Brazil.; Lerario A; Department of Internal Medicine, Division of Metabolism, Endocrinology and Diabetes, University of Michigan, Ann Arbor, Michigan, USA.; Shannon P; Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.; Cope H; Center for Human Disease Modeling, Duke University, Durham, North Carolina, USA.; Gallentine WB; Department of Neurology and Pediatrics, Stanford University, Lucile Packard Children's Hospital, Palo Alto, California, USA.; Le Guyader G; Service de génétique clinique, CHU de Poitiers, Poitiers, France.; Bilan F; Service de génétique clinique, CHU de Poitiers, Poitiers, France.; Laboratoire de Neurosciences Expérimentales et Cliniques, INSERM U1084, Université de Poitiers, Poitiers, France.; Létard P; Service de génétique clinique, CHU de Poitiers, Poitiers, France.; Davis EE; Department of Pediatrics, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA.; Department of Cell and Molecular Biology, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA.; Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.; Vora NL; Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, University of North Carolina School of Medicine, Chapel Hill, North Carolina, USA.

Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Anderson, Blair R ; Davis, Erica E ; Telen, Marilyn J. ; Ashley-Koch, Allison E

In Blood 15 November 2013 122(21):2224-2224