부산대학교 도서관

Ullah M; Institute of Molecular and Clinical Ophthalmology Basel, Basel, Switzerland.; Department of Ophthalmology, University of Basel, Basel, Switzerland.; Rehman AU; Department of Zoology, Faculty of Biological and Health Sciences, Hazara University, Mansehra, Pakistan.; Shetty M; Department of Biomedical Sciences, University of North Dakota School of Medicine and Health Sciences, Grand Forks.; Allen MD; Department of Biomedical Sciences, University of North Dakota School of Medicine and Health Sciences, Grand Forks.; Ullah E; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland.; Signorini SG; Developmental Neuro-Ophthalmology Unit, IRCCS Mondino Foundation, Pavia, Italy.; des Roziers CB; Laboratoire SeqOIA, Paris, France.; Service de Médecine Génomique des Maladies de Système et d'Organe, Hôpital Cochin, Paris, France.; Grijalva RM; Department of Biomedical Sciences, University of North Dakota School of Medicine and Health Sciences, Grand Forks.; Rashid A; Department of Ophthalmology, Jules Gonin Eye Hospital-Fondation Asile Des Aveugles and University of Lausanne, Lausanne, Switzerland.; Munir A; Department of Zoology, Faculty of Biological and Health Sciences, Hazara University, Mansehra, Pakistan.; Porretta AP; Service de cardiologie, Département cœur-vaisseaux, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland.; CNMR Maladies Cardiaques Héréditaires Rares, APHP, Hôpital Bichat Claude-Bernard, Paris, France.; Valente EM; Department of Molecular Medicine, University of Pavia, Pavia, Italy.; Neurogenetics Research Center, IRCCS Mondino Foundation, Pavia, Italy.; Agather AR; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland.; Dimopoulos I; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland.; Hufnagel RB; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland.; Malandain E; Department of Ophthalmology, Rouen University Hospital and University of Rouen, Rouen, France.; Coursimault J; Department of Genetics and Reference Center for Developmental Disorders, University of Rouen Normandie, Inserm U1245, CHU Rouen, Rouen, France.; Ansar M; Department of Ophthalmology, Jules Gonin Eye Hospital-Fondation Asile Des Aveugles and University of Lausanne, Lausanne, Switzerland.; Advanced Molecular Genetics and Genomics Disease Research and Treatment Centre, Dow University of Health Sciences, Sindh, Pakistan.; Antonarakis SE; Department of Genetic Medicine and Development, University of Geneva, Geneva, Switzerland.; Superti-Furga A; Division of Genetic Medicine, University of Lausanne, Lausanne, Switzerland.; Jan S; Department of Ophthalmology, Hayatabad Medical Complex, Peshawar, Khyber Pakhtunkhwa, Pakistan.; Pakistan Institute of Community Ophthalmology, Hayatabad Medical Complex, Peshawar, Khyber Pakhtunkhwa, Pakistan.; Brooks BP; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland.; Calzetti G; Institute of Molecular and Clinical Ophthalmology Basel, Basel, Switzerland.; Department of Ophthalmology, University of Basel, Basel, Switzerland.; Vista Vision Eye Clinic, Brescia, Italy.; Guan B; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland.; Quinodoz M; Institute of Molecular and Clinical Ophthalmology Basel, Basel, Switzerland.; Department of Ophthalmology, University of Basel, Basel, Switzerland.; Department of Genetics, Genomics and Cancer Sciences, University of Leicester, Leicester, United Kingdom.; Henry LK; Department of Biomedical Sciences, University of North Dakota School of Medicine and Health Sciences, Grand Forks.; Rivolta C; Institute of Molecular and Clinical Ophthalmology Basel, Basel, Switzerland.; Department of Ophthalmology, University of Basel, Basel, Switzerland.; Department of Genetics, Genomics and Cancer Sciences, University of Leicester, Leicester, United Kingdom.

Publisher: American Medical Association Country of Publication: United States NLM ID: 101589539 Publication Model: Print Cited Medium: Internet ISSN: 2168-6173 (Electronic) Linking ISSN: 21686165 NLM ISO Abbreviation: JAMA Ophthalmol Subsets: MEDLINE

Rapti, Melivoia; Zouaghi, Yassine; Meylan, Jenny; Ranza, Emmanuelle; Antonarakis, Stylianos E; Santoni, Federico A

Briefings in Bioinformatics. Mar2022, Vol. 23 Issue 2, p1-8. 8p.

Gassmann M; Department of Biomedicine, University of Basel, Basel, Switzerland.; Stawarski M; Department of Biomedicine, University of Basel, Basel, Switzerland.; Antonarakis SE; Medigenome, Swiss Institute of Genomic Medicine, Geneva, Switzerland.; Department of Genetic Medicine and Development, University of Geneva, Geneva, Switzerland.; Bettler B; Department of Biomedicine, University of Basel, Basel, Switzerland.

Publisher: Frontiers Media] Country of Publication: Switzerland NLM ID: 101548923 Publication Model: eCollection Cited Medium: Print ISSN: 1663-9812 (Print) Linking ISSN: 16639812 NLM ISO Abbreviation: Front Pharmacol Subsets: PubMed not MEDLINE

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; In Process

Antonarakis SE; Department of Genetic Medicine and Development, Faculty of Medicine, University of Geneva, Geneva, Switzerland. stylianos.antonarakis@unige.ch.; Medigenome, Swiss Institute for Genomic Medicine, Geneva, Switzerland. stylianos.antonarakis@unige.ch.; Academy of Athens, Athens, Greece. stylianos.antonarakis@unige.ch.

Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE

Reymond, Alexandre ; Friedli, Marc ; Henrichsen, Charlotte Neergaard ; Chapot, Fabian ; Deutsch, Samuel ; Ucla, Catherine ; Rossier, Colette ; Lyle, Robert ; Guipponi, Michel ; Antonarakis, Stylianos E

In Genomics November 2001 78(1-2):46-54

In Current Opinion in Genetics & Development 2001 11(3):241-246

Wonkam A; McKusick-Nathans Institute and Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA. awonkam1@jhmi.edu.; Division of Human Genetics, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa. awonkam1@jhmi.edu.; Esoh K; McKusick-Nathans Institute and Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Division of Human Genetics, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.; Levine RM; Department of Hematology, St. Jude Children's Research Hospital, Memphis, TN, USA.; Ngo Bitoungui VJ; Department of Microbiology, Haematology and Immunology, University of Dschang, Dschang, Cameroon.; Mnika K; Division of Human Genetics, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.; Nimmagadda N; Department of Hematology, St. Jude Children's Research Hospital, Memphis, TN, USA.; Dempsey EAD; Department of Hematology, St. Jude Children's Research Hospital, Memphis, TN, USA.; Nkya S; Department of Biochemistry and Molecular Biology, Muhimbili University of Health and Allied Sciences, Dar Es Salaam, Tanzania.; Sangeda RZ; Department of Pharmaceutical Microbiology, Muhimbili University of Health and Allied Sciences, Dar Es Salaam, Tanzania.; Nembaware V; Division of Human Genetics, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.; Morrice J; Division of Human Genetics, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.; Osman F; McKusick-Nathans Institute and Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Beer MA; McKusick-Nathans Institute and Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Department of Biomedical Engineering, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Makani J; Sickle Cell Programme, Department of Haematology and Blood Transfusion, Muhimbili University of Health & Allied Sciences (MUHAS), Dar Es Salaam, Tanzania.; SickleInAfrica Clinical Coordinating Center, Muhimbili University of Health & Allied Sciences (MUHAS), Dar Es Salaam, Tanzania.; Centre for Haematology, Department of Immunology and Inflammation, Imperial College London, London, UK.; Mulder N; Computational Biology Division, Department of Integrative Biomedical Sciences, Institute of Infectious Disease and Molecular Medicine, CIDRI-Africa Wellcome Trust Centre, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.; Lettre G; Montreal Heart Institute, Université de Montréal, Montreal, QC, Canada.; Steinberg MH; Department of Medicine, Boston University Chobanian & Avedisian School of Medicine, Boston, MA, USA.; Latanich R; McKusick-Nathans Institute and Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Casella JF; Department of Pediatrics, Division of Hematology, The Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Drehmer D; Armstrong Oxygen Biology Research Center, Institute for Cell Engineering, and Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Arking DE; McKusick-Nathans Institute and Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Chimusa ER; Department of Applied Sciences, Faculty of Health and Life Sciences, Northumbria University, Newcastle, Tyne and Wear, UK.; Yen JS; Department of Hematology, St. Jude Children's Research Hospital, Memphis, TN, USA.; Newby GA; McKusick-Nathans Institute and Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Department of Biomedical Engineering, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Institute for NanoBioTechnology, Johns Hopkins University, Baltimore, MD, USA.; Antonarakis SE; Department of Genetic Medicine, Faculty of Medicine, University of Geneva, Geneva, Switzerland.

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

Parenti I; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany.; Hesters A; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany.; Gil-Salvador M; Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology and Physiology, School of Medicine, University of Zaragoza, CIBERER and IIS-Aragon, 50009 Zaragoza, Spain.; Duffy L; Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON N6A 5W9, Canada.; Kanber D; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany.; Beygo J; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany.; Kerkhof J; Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON N6A 5W9, Canada.; Steenpaß L; Human and Animal Cell Lines, Leibniz-Institute DSMZ-German Collection of Microorganisms and Cell Cultures GmbH, Inhoffenstraße 7B, 38124, Braunschweig, Germany.; Zoological Institute, Technische Universität Braunschweig, 38106, Braunschweig, Germany.; Leitão E; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany.; Woestefeld J; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany.; Boone PM; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Kao EM; Institutional Centers for Clinical and Translational Research, Boston Children's Hospital, Boston, MA, USA.; Alabdi L; Department of Translational Genomics (Genomic Medicine Centre of Excellence (GMCoE)), King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.; Aldhalaan HM; Autism Department King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.; Alkuraya FS; Department of Translational Genomics (Genomic Medicine Centre of Excellence (GMCoE)), King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.; Lifera Omics, Riyadh 13519, Saudi Arabia.; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.; Alshammari MJ; Department of Pediatrics, King Saud University Medical City, King Saud University, Riyadh, Saudi Arabia.; Antonarakis SE; Medigenome, Swiss Institute of Genomic Medicine, Geneva, Switzerland.; Basel D; Division of Genetics, Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.; Cassinari K; Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, F-76000 Rouen, France.; de Polli Cellin L; Genetic Endocrinology Unit, Endocrinology Division, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo (HC-FMUSP), São Paulo, SP, Brazil.; Clause AR; Illumina Laboratory Services, Illumina Inc., San Diego, CA, USA.; Neurology, Washington University in St. Louis, St. Louis, MO, USA.; de Lima Jorge AA; Genetic Endocrinology Unit, Endocrinology Division, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo (HC-FMUSP), São Paulo, SP, Brazil.; de Castro Leal A; Department of Integrated Health, State University of Para, Santarem 68010-200, Brazil.; Collins SC; Université Bourgogne-Europe, Dijon, France, Inserm U1231, Dijon, France.; Institut NeuroMyoGène, Unité Physiopathologie et Génétique du Neurone et du Muscle, Université Claude Bernard Lyon 1 CNRS UMR 5261, Inserm U1315, Lyon, France.; Durand B; Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace (IGMA), Hôpitaux Universitaires de Strasbourg, Strasbourg, France.; Eckhold J; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany.; Hashem MO; Department of Translational Genomics (Genomic Medicine Centre of Excellence (GMCoE)), King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.; Jayakar P; Division of Genetics & Metabolism, Nicklaus Children's Hospital, Miami, Florida, USA.; Khan AO; Ophthalmology, Integrated Surgical Institute, Cleveland Clinic Abu Dhabi, Abu Dhabi, UAE.; Department of Ophthalmology, Cleveland Clinic Lerner College of Medicine of Case Western Reserve University, Cleveland, Ohio, USA.; Kato K; School of Biochemistry, Faculty of Life Sciences, University of Bristol, Bristol, UK.; Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan.; Department of Genetics, Research Institute of Environmental Medicine, Nagoya University, Nagoya, Japan.; Kubica R; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany.; Lyon GJ; Department of Human Genetics, NYS Institute for Basic Research in Developmental Disabilities, 1050 Forest Hill Road, Staten Island, NY, 10314, USA.; George A. Jervis Clinic, NYS Institute for Basic Research in Developmental Disabilities, 1050 Forest Hill Road, Staten Island, NY 10314, USA.; Biology PhD Program, The Graduate Center, The City University of New York, New York, USA.; Marchi E; Department of Human Genetics, NYS Institute for Basic Research in Developmental Disabilities, 1050 Forest Hill Road, Staten Island, NY, 10314, USA.; George A. Jervis Clinic, NYS Institute for Basic Research in Developmental Disabilities, 1050 Forest Hill Road, Staten Island, NY 10314, USA.; McCarrier J; Division of Genetics, Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.; Kimmig LK; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany.; Mizuno S; Department of Pediatrics, Aichi Developmental Disability Center, Kasugai, Japan.; Nicolas G; Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, F-76000 Rouen, France.; Nishio Y; Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan.; Department of Genetics, Research Institute of Environmental Medicine, Nagoya University, Nagoya, Japan.; Department of Pediatrics, Aichi Developmental Disability Center, Kasugai, Japan.; Medical Genomics Center, Nagoya University Hospital, Nagoya, 466-8550, Japan.; Ogi T; Department of Genetics, Research Institute of Environmental Medicine, Nagoya University, Nagoya, Japan.; Pié J; Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology and Physiology, School of Medicine, University of Zaragoza, CIBERER and IIS-Aragon, 50009 Zaragoza, Spain.; Prell J; Division of Genetics, Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.; Puisac B; Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology and Physiology, School of Medicine, University of Zaragoza, CIBERER and IIS-Aragon, 50009 Zaragoza, Spain.; Ramos FJ; Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology and Physiology, School of Medicine, University of Zaragoza, CIBERER and IIS-Aragon, 50009 Zaragoza, Spain.; Clinical Genetics Unit, Service of Pediatrics, University Hospital 'Lozano Blesa', University of Zaragoza School of Medicine, CIBERER-GV02, Zaragoza, Spain.; Ranza E; Medigenome, Swiss Institute of Genomic Medicine, Geneva, Switzerland.; Redin C; Medigenome, Swiss Institute of Genomic Medicine, Geneva, Switzerland.; Rush E; Division of Clinical Genetics, Children's Mercy Kansas City, University of Missouri Kansas City School of Medicine, Kansas City, MO, USA.; Department of Internal Medicine, University of Kansas School of Medicine, Kansas City, MO, USA.; Saitoh S; Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences and Medical School, Nagoya, Japan.; Shamseldin HE; Department of Translational Genomics (Genomic Medicine Centre of Excellence (GMCoE)), King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.; Starling S; Division of Clinical Genetics, Children's Mercy Kansas City, University of Missouri Kansas City School of Medicine, Kansas City, MO, USA.; Astiazaran-Symonds E; Department of Medicine, College of Medicine-Tucson, University of Arizona, Tucson, AZ, USA.; Taher S; Department of Pediatrics, King Saud University Medical City, King Saud University, Riyadh, Saudi Arabia.; Kuechler A; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany.; Sadikovic B; Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON N6A 5W9, Canada.; Department of Pathology and Laboratory Medicine, Western University, London, ON N5A 3K7, Canada.; Yalcin B; Université Bourgogne-Europe, Dijon, France, Inserm U1231, Dijon, France.; Institut NeuroMyoGène, Unité Physiopathologie et Génétique du Neurone et du Muscle, Université Claude Bernard Lyon 1 CNRS UMR 5261, Inserm U1315, Lyon, France.; Wendt KS; Erasmus Medical Centre, Department of Developmental Biology, Rotterdam, The Netherlands.; Kaiser FJ; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany.; Essener Zentrum für Seltene Erkrankungen (EZSE), Universitätsklinikum Essen, Essen, Germany.

Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv 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

Schnur RE; Cooper Medical School of Rowan University, Camden, New Jersey, USA.; Division of Genetics, Cooper University Healthcare, Camden, New Jersey, USA.; Dvořáček L; Institute of Hematology and Blood Transfusion, Prague, Czech Republic.; Kalsner L; Departments of Neurology and Pediatrics, Genetics Division, University of Connecticut School of Medicine, Connecticut Children's Medical Center, Hartford, Connecticut, USA.; Shapiro FL; Division of Genetics, Cooper University Healthcare, Camden, New Jersey, USA.; Grebeňová D; Institute of Hematology and Blood Transfusion, Prague, Czech Republic.; Yanni D; Division of Neonatology, Cooper University Healthcare, Camden, New Jersey, USA.; Wasserman BN; Division of Neonatology, Cooper University Healthcare, Camden, New Jersey, USA.; Wills Eye Hospital, Sidney Kimmel Medical College at Thomas Jefferson University, Philadelphia, Pennsylvania, USA.; Dyer LM; GeneDx, Gaithersburg, Maryland, USA.; Antonarakis SE; University of Geneva Medical School, Geneva, Switzerland.; Kuželová K; Institute of Hematology and Blood Transfusion, Prague, Czech Republic.

Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

Hiatt, Susan M; Trajkova, Slavica; Sebastiano, Matteo Rossi; Partridge, E Christopher; Abidi, Fatima E; Anderson, Ashlyn; Ansar, Muhammad; Antonarakis, Stylianos E; Azadi, Azadeh; Bachmann-Gagescu, Ruxandra; Bartuli, Andrea; Benech, Caroline; Berkowitz, Jennifer L; Betti, Michael J; Brusco, Alfredo; Cannon, Ashley; Caron, Giulia; Chen, Yanmin; Cochran, Meagan E; Coleman, Tanner F; Crenshaw, Molly M; Cuisset, Laurence; Curry, Cynthia J; Darvish, Hossein; Demirdas, Serwet; Descartes, Maria; Douglas, Jessica; Dyment, David A; Elloumi, Houda Zghal; Ermondi, Giuseppe; Faoucher, Marie; Farrow, Emily G; Felker, Stephanie A; Fisher, Heather; Hurst, Anna C E; Joset, Pascal; Kelly, Melissa A; Kmoch, Stanislav; Leadem, Benjamin R; Lyons, Michael J; Macchiaiolo, Marina; Magner, Martin; Mandrile, Giorgia; Mattioli, Francesca; McEown, Megan; Meadows, Sarah K; Medne, Livija; Meeks, Naomi J L; Montgomery, Sarah; Napier, Melanie P; Natowicz, Marvin; Newberry, Kimberly M; Niceta, Marcello; Noskova, Lenka; Nowak, Catherine B; Noyes, Amanda G; Osmond, Matthew; Prijoles, Eloise J; Pugh, Jada; Pullano, Verdiana; Quélin, Chloé; Rahimi-Aliabadi, Simin; Rauch, Anita; Redon, Sylvia; Reymond, Alexandre; Schwager, Caitlin R; Sellars, Elizabeth A; Scheuerle, Angela E; Shukarova-Angelovska, Elena; Skraban, Cara; Stolerman, Elliot; Sullivan, Bonnie R; Tartaglia, Marco; Thiffault, Isabelle; Uguen, Kevin; Umaña, Luis A; van Bever, Yolande; van der Crabben, Saskia N; van Slegtenhorst, Marjon A; Waisfisz, Quinten; Washington, Camerun; Rodan, Lance H; Myers, Richard M; Cooper, Gregory M

Hiatt, S M, Trajkova, S, Sebastiano, M R, Partridge, E C, Abidi, F E, Anderson, A, Ansar, M, Antonarakis, S E, Azadi, A, Bachmann-Gagescu, R, Bartuli, A, Benech, C, Berkowitz, J L, Betti, M J, Brusco, A, Cannon, A, Caron, G, Chen, Y, Cochran, M E, Coleman, T F, Crenshaw, M M, Cuisset, L, Curry, C J, Darvish, H, Demirdas, S, Descartes, M, Douglas, J, Dyment, D A, Elloumi, H Z, Ermondi, G, Faoucher, M, Farrow, E G, Felker, S A, Fisher, H, Hurst, A C E, Joset, P, Kelly, M A, Kmoch, S, Leadem, B R, Lyons, M J, Macchiaiolo, M, Magner, M, Mandrile, G, Mattioli, F, McEown, M, Meadows, S K, Medne, L, Meeks, N J L, Montgomery, S, Napier, M P, Natowicz, M, Newberry, K M, Niceta, M, Noskova, L, Nowak, C B, Noyes, A G, Osmond, M, Prijoles, E J, Pugh, J, Pullano, V, Quélin, C, Rahimi-Aliabadi, S, Rauch, A, Redon, S, Reymond, A, Schwager, C R, Sellars, E A, Scheuerle, A E, Shukarova-Angelovska, E, Skraban, C, Stolerman, E, Sullivan, B R, Tartaglia, M, Thiffault, I, Uguen, K, Umaña, L A, van Bever, Y, van der Crabben, S N, van Slegtenhorst, M A, Waisfisz, Q, Washington, C, Rodan, L H, Myers, R M & Cooper, G M 2023, 'Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype', American journal of human genetics, vol. 110, no. 2, pp. 215-227. https://doi.org/10.1016/j.ajhg.2022.12.007

Paracha SA; Department of Anatomy, Institute of Medical Sciences (KIMS), Khyber Medical University, Kohat, Pakistan.; Nawaz S; Department of Human Genetics, Sidra Medicine, Doha, Qatar.; Tahir Sarwar M; Department of Molecular Biology and Genetics, Khyber Medical University, Institute of Basic Sciences, Peshawar, Pakistan.; Shaheen A; Department of Biochemistry, Institute of Medical Sciences (KIMS), Khyber Medical University, Kohat, Pakistan.; Zaman G; Department of Computer Science, Abbottabad University of Science and Technology, Havelin, Pakistan.; Ahmed J; Department of Microbiology, Khyber Medical University, Institute of Basic Sciences, Peshawar, Pakistan.; Shah F; Department of Medicine, District Headquarter Hospital, K.D.A, Kohat, Pakistan.; Khwaja S; Department of Biotechnology, University of Azad Jammu and Kashmir, Muzaffarabad, Pakistan.; Jan A; Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology, Kohat, Pakistan.; Khan N; Department of Obstetrics and Gynecology, Hayatabad Medical Complex, Peshawar, Pakistan.; Kamal MA; Department of Pharmaceutics, College of Pharmacy, Prince Sattam Bin Abdulaziz University, Alkharj, Saudi Arabia.; Alam Q; Molecular Genomics and Precision Medicine, Express Med Diagnostics and Research, Manama, Bahrain.; Abbas S; Department of Biological Science, Dartmouth College, Hanover, NH, United States.; Farman S; Faculty of Biosciences, COMSATS University, Islamabad, Pakistan.; Waqas A; Department of Zoology, Emerson University, Multan, Pakistan.; Alkathiri A; Medical Genetics, Laboratory Medicine Department, Faculty of Applied Medical Sciences, Albaha University, Albaha, Saudi Arabia.; Hamadi A; Faculty of Applied Medical Sciences, Department of Medical Laboratory Technology, University of Tabuk, Tabuk, Saudi Arabia.; Santoni F; Service of Endocrinology, Diabetes, and Metabolism, University Hospital of Lausanne, Lausanne, Switzerland.; Faculty of Biology and Medicine, University of Lausanne, Lausanne, Switzerland.; National Research Council (CNR), Rome, Italy.; Ullah N; Institute of Biochemistry, University of Balochistan, Quetta, Pakistan.; Khalid B; Faculty of Biosciences, COMSATS University, Islamabad, Pakistan.; Antonarakis SE; Department of Genetic Medicine and Development, School of Medicine, University of Geneva, Geneva, Switzerland.; Fakhro KA; Department of Human Genetics, Sidra Medicine, Doha, Qatar.; Department of Genetic Medicine, Weill Cornell Medical College, Doha, Qatar.; College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar.; Umair M; King Abdullah International Medical Research Center (KAIMRC), Department of Medical Genomics Research, King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs (MNGH), Riyadh, Saudi Arabia.; Department of Life Sciences, School of Science, University of Management and Technology (UMT), Lahore, Pakistan.; Ansar M; Department of Ophthalmology, University of Lausanne, Jules Gonin Eye Hospital, Fondation Asile Des Aveugles, Lausanne, Switzerland.; Advanced Molecular Genetics and Genomics Disease Research and Treatment Centre, Dow University of Health Sciences, Karachi, Pakistan.

Publisher: Frontiers Media S.A Country of Publication: Switzerland NLM ID: 101648047 Publication Model: eCollection Cited Medium: Print ISSN: 2296-858X (Print) Linking ISSN: 2296858X NLM ISO Abbreviation: Front Med (Lausanne) Subsets: PubMed not MEDLINE

Dore R; Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London, United Kingdom; Department of Clinical Genetics, Guy's Hospital, Guy's and St Thomas' NHS Foundation Trust, London, United Kingdom.; Chang CT; Department of Neuroscience, The Herbert Wertheim UF Scripps Institute for Biomedical Innovation and Technology and Skaggs Graduate School, The Scripps Research Institute, Jupiter, FL.; Declève A; Laboratory for Molecular Biodiscovery, Department of Pharmaceutical and Pharmacological Sciences, KU Leuven, Leuven, Belgium.; Brunori G; Department of Neuroscience, The Herbert Wertheim UF Scripps Institute for Biomedical Innovation and Technology and Skaggs Graduate School, The Scripps Research Institute, Jupiter, FL.; Ludlam WG; Department of Neuroscience, The Herbert Wertheim UF Scripps Institute for Biomedical Innovation and Technology and Skaggs Graduate School, The Scripps Research Institute, Jupiter, FL.; Huang A; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA; Institute for Precision Health, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA.; Movahedinia M; Children Growth Disorder Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.; Damseh NS; Faculty of Medicine, Al-Quds University, Palestinian National Authority, Abu Deis, Palestine.; Anwar I; Department of Ophthalmology, University of Lausanne, Jules Gonin Eye Hospital, Fondation Asile Des Aveugles, Lausanne, Switzerland.; Vahidi Mehrjardi MY; Diabetes Research Center, Non-communicable Diseases Research Institute, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.; Ny A; Laboratory for Molecular Biodiscovery, Department of Pharmaceutical and Pharmacological Sciences, KU Leuven, Leuven, Belgium.; Khorrami M; Department of Genetics and Molecular Biology, Faculty of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.; Kheirollahi M; Department of Genetics and Molecular Biology, Faculty of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.; Frederiksen H; Department of Ophthalmology, University of Lausanne, Jules Gonin Eye Hospital, Fondation Asile Des Aveugles, Lausanne, Switzerland.; Eghbal F; Next Generation Genetic Polyclinic, Mashhad, Iran.; Mirjalili MR; Internal Medicine Department, Medical College, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.; Dehghani M; Abortion Research Centre, Yazd Reproductive Sciences Institute, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.; Karimiani EG; Next Generation Genetic Polyclinic, Mashhad, Iran.; Oreshkov S; Department of Ophthalmology, University of Lausanne, Jules Gonin Eye Hospital, Fondation Asile Des Aveugles, Lausanne, Switzerland.; Alves C; Department of Radiology, Boston Children's Hospital, Boston, MA.; Striano P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, full member of ERN-Epicare, Genoa, Italy.; Suri M; Nottingham Clinical Genetics Service, Nottingham University Hospitals NHS Trust, Nottingham, United Kingdom.; Martinez-Agosto J; Department of Human Genetics, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA.; Ansar M; Department of Biochemistry, Faculty of Biological Sciences, Quaid-I-Azam University, Islamabad, Pakistan.; Zahid M; Department of Biochemistry, Faculty of Biological Sciences, Quaid-I-Azam University, Islamabad, Pakistan.; Akram S; Department of Biochemistry, Faculty of Biological Sciences, Quaid-I-Azam University, Islamabad, Pakistan.; Ansar M; Department of Ophthalmology, University of Lausanne, Jules Gonin Eye Hospital, Fondation Asile Des Aveugles, Lausanne, Switzerland; Advanced Molecular Genetics and Genomics Disease Research and Treatment Centre, Dow University of Health Sciences, Karachi, Pakistan.; Nelson SF; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA; Institute for Precision Health, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA; Department of Human Genetics, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA.; Antonarakis SE; Department of Genetic Medicine and Development, University of Geneva Medical Faculty, Geneva, Switzerland.; Houlden H; Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London, United Kingdom.; Copmans D; Laboratory for Molecular Biodiscovery, Department of Pharmaceutical and Pharmacological Sciences, KU Leuven, Leuven, Belgium. Electronic address: danielle.copmans@kuleuven.be.; Martemyanov KA; Department of Neuroscience, The Herbert Wertheim UF Scripps Institute for Biomedical Innovation and Technology and Skaggs Graduate School, The Scripps Research Institute, Jupiter, FL. Electronic address: kmartemyanov@ufl.edu.; Maroofian R; Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London, United Kingdom. Electronic address: r.maroofian@ucl.ac.uk.

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

Brault, Véronique; Duchon, Arnaud; Romestaing, Caroline; Sahun, Ignasi; Pothion, Stéphanie; Karout, Mona; Borel, Christelle; Dembele, Doulaye; Bizot, Jean-Charles; Messaddeq, Nadia; Sharp, Andrew J.; Roussel, Damien; Antonarakis, Stylianos E; Dierssen, Mara; Hérault, Yann

PLoS Genetics. Mar2015, Vol. 11 Issue 3, p1-25. 25p.

Antonarakis, Stylianos E; Holoubek, Aleš; Rapti, Melivoia; Rademaker, Jesse; Meylan, Jenny; Iwaszkiewicz, Justyna; Zoete, Vincent; Wilson, Callum; Taylor, Juliet; Ansar, Muhammad; Borel, Christelle; Menzel, Olivier; Kuželová, Kateřina; Santoni, Federico A

Human Molecular Genetics; Jan2022, Vol. 31 Issue 1, p1-9, 9p

Steijger, Tamara; Abril, Josep F; Engström, Pär G; Kokocinski, Felix; Akerman, Martin; Alioto, Tyler; Ambrosini, Giovanna; Antonarakis, Stylianos E; Behr, Jonas; Bertone, Paul; Bohnert, Regina; Bucher, Philipp; Cloonan, Nicole; Derrien, Thomas; Djebali, Sarah; Du, Jiang; Dudoit, Sandrine; Gerstein, Mark; Gingeras, Thomas R; Gonzalez, David

Nature Methods. Dec2013, Vol. 10 Issue 12, p1177-1184. 8p.

Esko, Tõnu; Mezzavilla, Massimo; Nelis, Mari; Borel, Christelle; Debniak, Tadeusz; Jakkula, Eveliina; Julia, Antonio; Karachanak, Sena; Khrunin, Andrey; Kisfali, Peter; Krulisova, Veronika; Aušrelé Kučinskiené, Zita; Rehnström, Karola; Traglia, Michela; Nikitina-Zake, Liene; Zimprich, Fritz; Antonarakis, Stylianos E; Estivill, Xavier; Glavač, Damjan; Gut, Ivo

European Journal of Human Genetics. Jun2013, Vol. 21 Issue 6, p659-665. 7p. 1 Diagram, 3 Graphs, 1 Map.

Radhakrishna, Uppala; Ratnamala, Uppala; Deutsch, Samuel; Bartoloni, Lucia; Kuracha, Murali R; Singh, Raminder; Banwait, Jasjit; Bastola, Dhundy K; Johar, Kaid; Nath, Swapan K; Antonarakis, Stylianos E

European Journal of Human Genetics. Oct2012, Vol. 20 Issue 10, p1032-1036. 5p. 1 Diagram, 1 Chart, 1 Graph.

Nikolaev, Sergey I; Rimoldi, Donata; Iseli, Christian; Valsesia, Armand; Robyr, Daniel; Gehrig, Corinne; Harshman, Keith; Guipponi, Michel; Bukach, Olesya; Zoete, Vincent; Michielin, Olivier; Muehlethaler, Katja; Speiser, Daniel; Beckmann, Jacques S; Xenarios, Ioannis; Halazonetis, Thanos D; Jongeneel, C Victor; Stevenson, Brian J; Antonarakis, Stylianos E

Nature Genetics. Feb2012, Vol. 44 Issue 2, p133-139. 7p. 2 Diagrams, 2 Charts, 2 Graphs.