부산대학교 도서관

Jones, SA; Parini, R; Harmatz, P; Giugliani, R; Fang, J; Mendelsohn, NJ

MOLECULAR GENETICS AND METABOLISM. 109(1):41-48

Manolio TA; National Human Genome Research Institute National Institutes of Health Bethesda Maryland USA.; Rider R; National Human Genome Research Institute National Institutes of Health Bethesda Maryland USA.; Bult CJ; The Jackson Laboratory for Mammalian Genetics Bar Harbor Maine USA.; Chisholm RL; Center for Genetic Medicine, Feinberg School of Medicine Northwestern University Chicago Illinois USA.; Deverka PA; Deverka Consulting, LLC Durham North Carolina USA.; Center for Translational and Policy Research on Precision Medicine (TRANSPERS), Department of Clinical Pharmacy University of California San Francisco California USA.; Ginsburg GS; All of Us Research Program National Institutes of Health Bethesda Maryland USA.; Green ED; National Human Genome Research Institute National Institutes of Health Bethesda Maryland USA.; Jarvik GP; Department of Medicine (Medical Genetics) and Genome Sciences University of Washington Seattle Washington USA.; Mensah GA; Center for Translation Research and Implementation Science, National Heart, Lung, and Blood Institute National Institutes of Health Bethesda Maryland USA.; Narula J; National Human Genome Research Institute National Institutes of Health Bethesda Maryland USA.; Ramos EM; National Human Genome Research Institute National Institutes of Health Bethesda Maryland USA.; Relling MV; Pharmaceutical Sciences Department St. Jude Children's Research Hospital Memphis Tennessee USA.; Roden DM; Department of Medicine, Pharmacology, and Biomedical Informatics Vanderbilt University Medical Center Nashville Tennessee USA.; Rowley R; National Human Genome Research Institute National Institutes of Health Bethesda Maryland USA.; Abul-Husn NS; Genomic Health 23andMe Sunnyvale California USA.; Division of Genomic Medicine, Department of Medicine, Institute for Genomic Health Icahn School of Medicine at Mount Sinai New York New York USA.; Buchanan AH; Department of Genomic Health Geisinger Danville Pennsylvania USA.; Chute CG; Schools of Medicine, Public Health and Nursing, and Institute for Clinical and Translational Research Johns Hopkins University Baltimore Maryland USA.; Del Fiol G; Department of Biomedical Informatics University of Utah Salt Lake City Utah USA.; Elhanan G; School of Medicine University of Nevada Reno Nevada USA.; Haga SB; Division of General Internal Medicine, Department of Medicine Duke University School of Medicine Durham North Carolina USA.; Hamid R; Department of Pediatrics and Vanderbilt Center for Undiagnosed Diseases Vanderbilt University Medical Center Nashville Tennessee USA.; Horowitz CR; Department of Population Health Science and Policy and Institute for Health Equity Research Icahn School of Medicine at Mount Sinai New York New York USA.; Hulick PJ; Division of Medical Genetics and Neaman Center for Personalized Medicine Endeavor Health Evanston Illinois USA.; Department of Human Genetics University of Chicago Pritzker School of Medicine Chicago Illinois USA.; James CA; Department of Cardiology and Genetic Medicine Johns Hopkins University Baltimore Maryland USA.; Jeff JM; Illumina San Diego California USA.; Korf B; Department of Genetics University of Alabama at Birmingham Birmingham Alabama USA.; Landry L; Department of Genetics, Perelman School of Medicine University of Pennsylvania Philadelphia Pennsylvania USA.; McGraw D; Data Stewardship and Data Sharing Citizen Health San Francisco California USA.; McLeod HL; Center for Precision Medicine and Functional Genomics Utah Tech University St. George Utah USA.; Mendelsohn NJ; NJMendelsohn Consulting Eden Prairie Minnesota USA.; Osterman T; Vanderbilt University Medical Center Nashville Tennessee USA.; Taylor CO; Department of Medicine and Biomedical Engineering and Institute of Computational Medicine Johns Hopkins University Baltimore Maryland USA.; Pritchard D; Personalized Medicine Coalition Washington DC USA.; Rehm HL; Center for Genomic Medicine Harvard Medical School Boston Massachusetts USA.; Center for Genomic Medicine Massachusetts General Hospital Boston Massachusetts USA.; Tsosie KS; School of Life Sciences Arizona State University Tempe Arizona USA.; Vassy JL; Center for Genomic Medicine Harvard Medical School Boston Massachusetts USA.; Division of General Internal Medicine and Primary Care Brigham and Women's Hospital Boston Massachusetts USA.; VA Center for Health Optimization and Implementation Research VA Boston Healthcare System Boston Massachusetts USA.; Watson K; UIC School of Public Health and UI Health Mile Square Health Center Chicago Illinois USA.; Wiley K Jr; Division of Clinical Innovation National Center for Advancing Translational Sciences Rockville Maryland USA.; Williams MS; Department of Genomic Health Geisinger Danville Pennsylvania USA.

Publisher: Wiley, published in collaboration with the University of Michigan Country of Publication: United States NLM ID: 101708071 Publication Model: eCollection Cited Medium: Internet ISSN: 2379-6146 (Electronic) Linking ISSN: 23796146 NLM ISO Abbreviation: Learn Health Syst Subsets: PubMed not MEDLINE

Martino, Jeremiah ; Liu, Qingxue ; Vukojevic, Katarina ; Ke, Juntao ; Lim, Tze Y. ; Khan, Atlas ; Gupta, Yask ; Perez, Alejandra ; Yan, Zonghai ; Milo Rasouly, Hila ; Vena, Natalie ; Lippa, Natalie ; Giordano, Jessica L. ; Saraga, Marijan ; Saraga-Babic, Mirna ; Westland, Rik ; Bodria, Monica ; Piaggio, Giorgio ; Bendapudi, Pavan K. ; Iglesias, Alejandro D. ; Wapner, Ronald J. ; Tasic, Velibor ; Wang, Fan ; Ionita-Laza, Iuliana ; Ghiggeri, Gian Marco ; Kiryluk, Krzysztof ; Sampogna, Rosemary V. ; Mendelsohn, Cathy L. ; D’Agati, Vivette D. ; Gharavi, Ali G. ; Sanna-Cherchi, Simone

In Genetics in Medicine December 2023 25(12)

Cohn, DH; Chung, BHY; Mendelsohn, NJ; Fernandez, B; Zhang, W; Alkuraya, FS; Dobyns, WB; Curry, CJ; Aldinger, KA

Journal of Medical Genetics. 53:427-430

Mendelsohn, NJ; Harmatz, P; Bodamer, O; Burton, BK; Giugliani, R; Jones, SA; Lampe, C; Malm, G; Steiner, RD; Parini, R

GENETICS IN MEDICINE. 12(12):816-822

Cambridge University Press, Enterprise & Society. 7(3):628-630

Hemati, P; Revah-Politi, A; Bassan, H; Petrovski, S; Bilancia, CG; Ramsey, K; Griffin, NG; Bier, L; Cho, MT; Rosello, M; Lynch, SA; Colombo, S; Weber, A; Haug, M; Heinzen, EL; Sands, TT; Narayanan, V; Primiano, M; Aggarwal, VS; Millan, F; Sattler-Holtrop, SG; Caro-Llopis, A; Pillar, N; Baker, J; Freedman, R; Kroes, HY; Sacharow, S; Stong, N; Lapunzina, P; Schneider, MC; Mendelsohn, NJ; Singleton, A; Ramey, VL; Wou, K; Kuzminsky, A; Monfort, S; Weiss, M; Doyle, S; Iglesias, A; Martinez, F; Mckenzie, F; Orellana, C; van Gassen, KLI; Palomares, M; Bazak, L; Lee, A; Bircher, A; Basel-Vanagaite, L; Hafstrom, M; Houge, G; Goldstein, DB; Anyane-Yeboa, K; C4RCD Res Grp; DDD Study

AMERICAN JOURNAL OF MEDICAL GENETICS PART A
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Instituto de Investigación Sanitaria La Fe (IIS La Fe)

The Journal of Politics. 79:1106-1117

British Journal of Psychiatry. 162:432-432

Enterprise & Society. 7:628-630

Journal of the American Chemical Society. 129:13358-13358

Giangiobbe S; Medical Genetics Unit, Mother and Child Health Department, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.; Medical Genetics Unit, San Raffaele Hospital, Milan, Italy.; Caraffi SG; Medical Genetics Unit, Mother and Child Health Department, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.; Ivanovski I; Medical Genetics Unit, Mother and Child Health Department, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.; Maini I; Unità Operativa di Psichiatria e Psicologia dell'Infanzia e dell'Adolescenza, DAI-SMDP, AUSL Parma, Parma, Italy.; Pollazzon M; Medical Genetics Unit, Mother and Child Health Department, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.; Rosato S; Medical Genetics Unit, Mother and Child Health Department, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.; Trimarchi G; Medical Genetics Unit, Mother and Child Health Department, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.; Lauriello A; Medical Genetics Unit, Mother and Child Health Department, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.; Marinelli M; Medical Genetics Unit, Mother and Child Health Department, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.; Nicoli D; Molecular Biology Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.; Baldo C; UOC Laboratorio di Genetica Umana, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Laurie S; Clinical Genomics, Centre Nacional d'Anàlisi Genòmica, Centre de Regulació Genòmica, Barcelona, Spain.; Flores-Daboub J; Division of Pediatric Clinical Genetics, University of Utah School of Medicine, Salt Lake City, UT, USA.; Provenzano A; Medical Genetics Unit, Meyer Children's University Hospital, Florence, Italy.; Andreucci E; Medical Genetics Unit, Meyer Children's University Hospital, Florence, Italy.; Peluso F; Medical Genetics Unit, Meyer Children's University Hospital, Florence, Italy.; Neurobiology and Molecular Medicine, IRCCS Stella Maris, Pisa, Italy.; Rizzo R; Child Neuropsychiatry, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy.; Stewart H; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Lachlan K; Wessex Clinical Genetics Service, Southampton University Hospitals NHS Foundation Trust, Princess Anne Hospital, Southampton, UK.; Human Genetics and Genomic Medicine, University of Southampton, Southampton, UK.; Bayat A; Department of Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark.; Napoli M; Neuroradiology Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.; Carboni G; Radiology Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.; Baker J; Children's Hospitals and Clinics of Minnesota, Minneapolis, MN, USA.; Mendel A; Coordination of Rare Diseases at Sanford (CoRDS), Sanford Research, Sioux Falls, SD, USA.; Piatelli G; UOC Neurochirurgia, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Pantaleoni C; Developmental Neurology Department, Fondazione IRCCS Istituto Neurologico 'C. Besta', Milan, Italy.; Mattina T; Department of Biomedical and Biotechnological Sciences, University of Catania, Catania, Italy.; Prontera P; Medical Genetics Unit, 'Santa Maria della Misericordia' Hospital, Perugia, Italy.; Mendelsohn NJ; Complex Health Solutions, UnitedHealth Group, Minneapolis, MN, USA.; Giglio S; Medical Genetics Unit, Meyer Children's University Hospital, Florence, Italy.; Zuffardi O; Department of Molecular Medicine, University of Pavia, Pavia, Italy.; Garavelli L; Medical Genetics Unit, Mother and Child Health Department, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.

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

Rabin R; Clinical Genetic Services, Department of Pediatrics, NYU School of Medicine, New York, New York, USA.; Radmanesh A; Division of Pediatric Neuroradiology, Department of Radiology, NYU School of Medicine, New York, New York, USA.; Glass IA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA.; Department of Pediatrics, Division of Medical Genetics, University of Washington, Seattle, Washington, USA.; Dobyns WB; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA.; Department of Pediatrics, Division of Medical Genetics, University of Washington, Seattle, Washington, USA.; Department of Neurology, University of Washington, Seattle, Washington, USA.; Aldinger KA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA.; Shieh JT; Institute for Human Genetics, Division of Medical Genetics, Department of Pediatrics, Benioff Children's Hospital, University of California San Francisco, San Francisco, California, USA.; Romoser S; Division of Medical Genetics and Genomics, Stead Family Department of Pediatrics, University of Iowa Hospitals, Iowa City, Iowa, USA.; Bombei H; Division of Medical Genetics and Genomics, Stead Family Department of Pediatrics, University of Iowa Hospitals, Iowa City, Iowa, USA.; Dowsett L; Kapi'olani Medical Specialists and Department of Pediatrics, University of Hawai'i John A. Burns School of Medicine, Honolulu, Hawaii, USA.; Trapane P; Division of Pediatric Genetics, Department of Pediatrics, University of Florida College of Medicine-Jacksonville, Jacksonville, Florida, USA.; Bernat JA; Division of Medical Genetics and Genomics, Stead Family Department of Pediatrics, University of Iowa Hospitals, Iowa City, Iowa, USA.; Baker J; Genomic Medicine, Children's Minnesota, Minneapolis, Minnesota, USA.; Mendelsohn NJ; Genomic Medicine, Children's Minnesota, Minneapolis, Minnesota, USA.; Popp B; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany.; Siekmeyer M; Department of Pediatrics Hospital for Children and Adolescents, University of Leipzig Hospitals and Clinics, Leipzig, Germany.; Sorge I; Department of Pediatric Radiology, University of Leipzig Hospitals and Clinics, Leipzig, Germany.; Sansbury FH; All Wales Medical Genomics Service, Institute of Medical Genetics, Cardiff and Vale University Health Board, University Hospital of Wales, Cardiff, UK.; Watts P; Department of Ophthalmology, Cardiff and Vale University Health Board, University Hospital of Wales, Cardiff, UK.; Foulds NC; Wessex Clinical Genetics Services, Southampton University Hospital NHS Foundation Trust, Southampton, UK.; Burton J; University of Illinois College of Medicine at Peoria, Peoria, Illinois, USA.; Hoganson G; University of Illinois College of Medicine at Peoria, Peoria, Illinois, USA.; Hurst JA; Department of Clinical Genetics, Great Ormond Street Hospital, London, UK.; Menzies L; Department of Clinical Genetics, Great Ormond Street Hospital, London, UK.; Osio D; Department of Clinical Genetics, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.; Kerecuk L; Renal Department, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.; Cobben JM; North West Thames Regional Genetic Services, Northwick Park Hospitals NHS Foundation Trust, London, UK.; Emma Children Hospital, Amsterdam, The Netherlands.; Jizi K; CHU Sainte-Justine Hospital, Montreal, Quebec, Canada.; Jacquemont S; CHU Sainte-Justine Research Centre, Montreal, Quebec, Canada.; Department of Pediatrics, University of Montreal, Montreal, Quebec, Canada.; Bélanger SA; Development Clinic, CHU Sainte-Justine Hospital, Montreal, Quebec, Canada.; Department of Medicine, University of Montreal, Montreal, Quebec, Canada.; Löhner K; Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, The Netherlands.; Veenstra-Knol HE; Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, The Netherlands.; Lemmink HH; Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, The Netherlands.; Keller-Ramey J; GeneDx, Gaithersburg, Maryland, USA.; Wentzensen IM; GeneDx, Gaithersburg, Maryland, USA.; Punj S; GeneDx, Gaithersburg, Maryland, USA.; McWalter K; GeneDx, Gaithersburg, Maryland, USA.; Lenberg J; Rady Children's Hospital Institute for Genomic Medicine, San Diego, California, USA.; Ellsworth KA; Rady Children's Hospital Institute for Genomic Medicine, San Diego, California, USA.; Radtke K; Department of Clinical Diagnostics, Ambry Genetics, Aliso Viejo, California, USA.; Akbarian S; Friedman Brain Institute and Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Pappas J; Clinical Genetic Services, Department of Pediatrics, NYU School of Medicine, New York, New York, USA.; Clinical Genetics, NYU Orthopedic Hospital, New York, New York, 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

Sarah Zanzoul; Pamela Ohman Strickland; Alan L. Mendelsohn; Keanaan Malke; Alicja Bator; Jennifer Hemler; Manuel E. Jimenez

Journal of Developmental & Behavioral Pediatrics. 45:e14-e20

Hemati P; Institute for Genomic Medicine, Columbia University Medical Center, New York, New York.; Revah-Politi A; Institute for Genomic Medicine, Columbia University Medical Center, New York, New York.; Bassan H; Pediatric Neurology & Development Center, Assaf Harofe Medical Center, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Petrovski S; Institute for Genomic Medicine, Columbia University Medical Center, New York, New York.; Department of Medicine, Austin Health and Royal Melbourne Hospital, University of Melbourne, Melbourne, Victoria, Australia.; Bilancia CG; Department of Pathology and Cell Biology, Columbia University Medical Center, New York, New York.; Ramsey K; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, Arizona.; Griffin NG; Institute for Genomic Medicine, Columbia University Medical Center, New York, New York.; Bier L; Institute for Genomic Medicine, Columbia University Medical Center, New York, New York.; Cho MT; GeneDx, Gaithersburg, Maryland.; Rosello M; Unidad de Genetica, Hospital Universitario y Politecnico La Fe, Valencia, Spain.; Lynch SA; Temple Street Children's University Hospital, Dublin, Ireland.; Colombo S; Institute for Genomic Medicine, Columbia University Medical Center, New York, New York.; Weber A; Department of Clinical Genetics, Liverpool Women's Hospital, Liverpool, United Kingdom.; Haug M; Department of Medical Genetics, St. Olav's University Hospital, Trondheim, Norway.; Heinzen EL; Institute for Genomic Medicine, Columbia University Medical Center, New York, New York.; Sands TT; Institute for Genomic Medicine, Columbia University Medical Center, New York, New York.; Narayanan V; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, Arizona.; Primiano M; Department of Pediatrics, Children's Hospital of New York-Presbyterian, New York, New York.; Aggarwal VS; Institute for Genomic Medicine, Columbia University Medical Center, New York, New York.; Department of Pathology and Cell Biology, Columbia University Medical Center, New York, New York.; Millan F; GeneDx, Gaithersburg, Maryland.; Sattler-Holtrop SG; Carle Physician Group, Urbana, Illinois.; Department of Genetics, Le Bonheur Children's Hospital, Memphis, Tennessee.; Caro-Llopis A; Unidad de Genetica, Hospital Universitario y Politecnico La Fe, Valencia, Spain.; Pillar N; Pediatric Neurology & Development Center, Assaf Harofe Medical Center, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Baker J; Genomics Medicine Program, Children's Hospitals and Clinics of Minnesota, Minneapolis, Minnesota.; Freedman R; Genetic Services of Western Australia, Department of Health, Government of Western Australia, Perth, Western Australia, Australia.; School of Paediatrics and Child Health, University of Western Australia, Perth, Western Australia, Australia.; Kroes HY; Department of Genetics, University Medical Center Utrecht, The Netherlands.; Sacharow S; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts.; Stong N; Institute for Genomic Medicine, Columbia University Medical Center, New York, New York.; Lapunzina P; INGEMM, Instituto de Genética Médica y Molecular, IdiPAZ, Hospital Universitario la Paz, Universidad Autónoma de Madrid (UAM), Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras, CIBERER, ISCIII, Madrid, Spain.; Schneider MC; Carle Physician Group, Urbana, Illinois.; Biochemical Genetics, Neurology Division, St Christopher's Hospital for Children, Philadelphia, Pennsylvania.; Mendelsohn NJ; Genomics Medicine Program, Children's Hospitals and Clinics of Minnesota, Minneapolis, Minnesota.; Singleton A; GeneDx, Gaithersburg, Maryland.; Loik Ramey V; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts.; Wou K; Division of Clinical Genetics, Department of Pediatrics, Columbia University Medical Center (CUMC), New York, New York.; Kuzminsky A; Child development Center, Clalit Health Service, Netanya, Israel.; Monfort S; Unidad de Genetica, Hospital Universitario y Politecnico La Fe, Valencia, Spain.; Weiss M; Pediatric Neurology & Development Center, Assaf Harofe Medical Center, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Doyle S; Temple Street Children's University Hospital, Dublin, Ireland.; Iglesias A; Division of Clinical Genetics, Department of Pediatrics, Columbia University Medical Center (CUMC), New York, New York.; Martinez F; Unidad de Genetica, Hospital Universitario y Politecnico La Fe, Valencia, Spain.; Mckenzie F; Genetic Services of Western Australia, Department of Health, Government of Western Australia, Perth, Western Australia, Australia.; School of Paediatrics and Child Health, University of Western Australia, Perth, Western Australia, Australia.; Orellana C; Unidad de Genetica, Hospital Universitario y Politecnico La Fe, Valencia, Spain.; van Gassen KLI; Department of Genetics, University Medical Center Utrecht, The Netherlands.; Palomares M; INGEMM, Instituto de Genética Médica y Molecular, IdiPAZ, Hospital Universitario la Paz, Universidad Autónoma de Madrid (UAM), Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras, CIBERER, ISCIII, Madrid, Spain.; Bazak L; Pediatric Neurology & Development Center, Assaf Harofe Medical Center, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Lee A; Brentwood Children's Clinic, Brentwood, Tennessee.; Bircher A; Inner Vision Women's Ultrasound & Genetics, Nashville, Tennessee.; Basel-Vanagaite L; Raphael Recanati Genetics Institute, Rabin Medical Center, Beilinson Campus, Petah Tikva, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Pediatric Genetics Unit, Schneider Children's Medical Center of Israel, Petah Tikva, Israel.; Felsenstein Medical Research Center, Rabin Medical Center, Petah Tikva, Israel.; Hafström M; Department of Pediatrics, St Olav's Hospital, Trondheim, Norway.; Department of Laboratory Medicine, Children's and Women's Health, Norwegian University of Science and Technology, Trondheim, Norway.; Houge G; Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway.; Goldstein DB; Institute for Genomic Medicine, Columbia University Medical Center, New York, New York.; Anyane-Yeboa K; Division of Clinical Genetics, Department of Pediatrics, Columbia University Medical Center (CUMC), New York, New York.

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

Pierpont EI; Weismer SE; Roberts AE; Tworog-Dube E; Pierpont ME; Mendelsohn NJ; Seidenberg MS

Journal of Speech, Language & Hearing Research (JSLHR J SPEECH LANG HEAR RES), Aug2010; 53(4): 917-932. (16p)

Bianchini JM; Zhang Q; Hanna G; Flach CR; Wang H; Southall MD; Mendelsohn R; Randhawa M

Clinical, Cosmetic and Investigational Dermatology, Vol 12, Pp 229-239 (2019)

Ficicioglu C; Division of Human Genetics and Metabolism, The Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.; Giugliani R; Department of Genetics/UFRGS and INAGEMP, Medical Genetics Service/HCPA, Porto Alegre, Brazil.; Harmatz P; UCSF Benioff Children's Hospital Oakland, Oakland, California.; Mendelsohn NJ; Genomic Medicine Program, Children's Hospitals and Clinics of Minnesota, Minneapolis, Minnesota.; Division of Genetics, Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota.; Jego V; Cytel, Inc., Geneva, Switzerland.; Parini R; Rare Metabolic Disease Unit, Pediatric Department, Fondazione MBBM, San Gerardo Hospital, Monza, Italy.

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

Muenzer J; Department of Pediatrics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; Jones SA; Willink Unit, Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester and Academic Health Sciences Centre, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK.; Tylki-Szymańska A; Department of Pediatric Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, Warsaw, Poland.; Harmatz P; UCSF Benioff Children's Hospital Oakland, Oakland, CA, USA.; Mendelsohn NJ; Genomic Medicine Program, Children's Hospitals and Clinics of Minnesota, Minneapolis, MN, USA.; Department of Pediatrics, Division of Genetics, University of Minnesota, Minneapolis, MN, USA.; Guffon N; Centre de Référence des Maladies Héréditaires du Métabolisme, Hôpital Femme Mère Enfant, Bron, France.; Giugliani R; Department of Genetics/UFRGS and INAGEMP, Medical Genetics Service/HCPA, Porto Alegre, Brazil.; Burton BK; Division of Genetics, Birth Defects and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Northwestern University, Chicago, IL, USA.; Scarpa M; Rare Disease Centre, Helios Dr Horst Schmidt Clinic, Wiesbaden, Germany.; Department of Women's and Children's Health, University of Padova, Padova, Italy.; Beck M; Department of Pediatrics, University Medical Center, Johannes Gutenberg University, Mainz, Germany.; Jangelind Y; Jangelind Consulting AB, Stockholm, Sweden.; Hernberg-Stahl E; Late Phase Solutions Europe AB, Täby, Sweden.; Larsen MP; Shire Human Genetic Therapies, Inc., 300 Shire Way HA100-310, Lexington, MA, 02421, USA.; Present address: Shionogi, Inc., Florham Park, NJ, USA.; Pulles T; Shire, Zug, Switzerland.; Present address: Ultragenyx Pharmaceutical, Inc., Basel, Switzerland.; Whiteman DAH; Shire Human Genetic Therapies, Inc., 300 Shire Way HA100-310, Lexington, MA, 02421, USA. dwhiteman@shire.com.

Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

Pierpont ME; Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota.; Department of Ophthalmology and Visual Neurosciences, University of Minnesota, Minneapolis, Minnesota.; Children's Hospitals and Clinics of Minnesota, Minneapolis, Minnesota.; Richards M; Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota.; Engel WK; Department of Ophthalmology and Visual Neurosciences, University of Minnesota, Minneapolis, Minnesota.; Children's Hospitals and Clinics of Minnesota, Minneapolis, Minnesota.; Mendelsohn NJ; Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota.; Genomic Medicine, Children's Hospitals and Clinics of Minnesota, Minneapolis, Minnesota.; Summers CG; Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota.; Department of Ophthalmology and Visual Neurosciences, University of Minnesota, Minneapolis, Minnesota.

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