Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Janson J. White"'
Autor:
Elizabeth E. Blue, Janson J. White, Michael K. Dush, William W. Gordon, Brent H. Wyatt, Peter White, Colby T. Marvin, Emmi Helle, Tiina Ojala, James R. Priest, Mary M. Jenkins, Lynn M. Almli, Jennita Reefhuis, Faith Pangilinan, Lawrence C. Brody, Kim L. McBride, Vidu Garg, Gary M. Shaw, Paul A. Romitti, Wendy N. Nembhard, Marilyn L. Browne, Martha M. Werler, Denise M. Kay, Seema Mital, Jessica X. Chong, Nanette M. Nascone-Yoder, Michael J. Bamshad
Publikováno v:
HGG Advances, Vol 4, Iss 4, Pp 100232- (2023)
Summary: Hypoplastic left heart syndrome (HLHS) is a severe congenital heart defect (CHD) characterized by hypoplasia of the left ventricle and aorta along with stenosis or atresia of the aortic and mitral valves. HLHS represents only ∼4%–8% of a
Externí odkaz:
https://doaj.org/article/02c4caf366fb4060935dbf5c314b1e69
Autor:
Maria Nicla Loviglio, Christine R. Beck, Janson J. White, Marion Leleu, Tamar Harel, Nicolas Guex, Anne Niknejad, Weimin Bi, Edward S. Chen, Isaac Crespo, Jiong Yan, Wu-Lin Charng, Shen Gu, Ping Fang, Zeynep Coban-Akdemir, Chad A. Shaw, Shalini N. Jhangiani, Donna M. Muzny, Richard A. Gibbs, Jacques Rougemont, Ioannis Xenarios, James R. Lupski, Alexandre Reymond
Publikováno v:
Genome Medicine, Vol 8, Iss 1, Pp 1-15 (2016)
Abstract Background Smith-Magenis syndrome (SMS) is a developmental disability/multiple congenital anomaly disorder resulting from haploinsufficiency of RAI1. It is characterized by distinctive facial features, brachydactyly, sleep disturbances, and
Externí odkaz:
https://doaj.org/article/b944a7ab8a69489a919bdf59be14b60a
Autor:
Samantha M. Baxter, Jennifer E. Posey, Nicole J. Lake, Nara Sobreira, Jessica X. Chong, Steven Buyske, Elizabeth E. Blue, Lisa H. Chadwick, Zeynep H. Coban-Akdemir, Kimberly F. Doheny, Colleen P. Davis, Monkol Lek, Christopher Wellington, Shalini N. Jhangiani, Mark Gerstein, Richard A. Gibbs, Richard P. Lifton, Daniel G. MacArthur, Tara C. Matise, James R. Lupski, David Valle, Michael J. Bamshad, Ada Hamosh, Shrikant Mane, Deborah A. Nickerson, Heidi L. Rehm, Anne O’Donnell-Luria, Marcia Adams, François Aguet, Gulsen Akay, Peter Anderson, Corina Antonescu, Harindra M. Arachchi, Mehmed M. Atik, Christina A. Austin-Tse, Larry Babb, Tamara J. Bacus, Vahid Bahrambeigi, Suganthi Balasubramanian, Yavuz Bayram, Arthur L. Beaudet, Christine R. Beck, John W. Belmont, Jennifer E. Below, Kaya Bilguvar, Corinne D. Boehm, Eric Boerwinkle, Philip M. Boone, Sara J. Bowne, Harrison Brand, Kati J. Buckingham, Alicia B. Byrne, Daniel Calame, Ian M. Campbell, Xiaolong Cao, Claudia Carvalho, Varuna Chander, Jaime Chang, Katherine R. Chao, Ivan K. Chinn, Declan Clarke, Ryan L. Collins, Beryl Cummings, Zain Dardas, Moez Dawood, Kayla Delano, Stephanie P. DiTroia, Harshavardhan Doddapaneni, Haowei Du, Renqian Du, Ruizhi Duan, Mohammad Eldomery, Christine M. Eng, Eleina England, Emily Evangelista, Selin Everett, Jawid Fatih, Adam Felsenfeld, Laurent C. Francioli, Christian D. Frazar, Jack Fu, Emmanuel Gamarra, Tomasz Gambin, Weiniu Gan, Mira Gandhi, Vijay S. Ganesh, Kiran V. Garimella, Laura D. Gauthier, Danielle Giroux, Claudia Gonzaga-Jauregui, Julia K. Goodrich, William W. Gordon, Sean Griffith, Christopher M. Grochowski, Shen Gu, Sanna Gudmundsson, Stacey J. Hall, Adam Hansen, Tamar Harel, Arif O. Harmanci, Isabella Herman, Kurt Hetrick, Hadia Hijazi, Martha Horike-Pyne, Elvin Hsu, Jianhong Hu, Yongqing Huang, Jameson R. Hurless, Steve Jahl, Gail P. Jarvik, Yunyun Jiang, Eric Johanson, Angad Jolly, Ender Karaca, Michael Khayat, James Knight, J. Thomas Kolar, Sushant Kumar, Seema Lalani, Kristen M. Laricchia, Kathryn E. Larkin, Suzanne M. Leal, Gabrielle Lemire, Richard A. Lewis, He Li, Hua Ling, Rachel B. Lipson, Pengfei Liu, Alysia Kern Lovgren, Francesc López-Giráldez, Melissa P. MacMillan, Brian E. Mangilog, Stacy Mano, Dana Marafi, Beth Marosy, Jamie L. Marshall, Renan Martin, Colby T. Marvin, Michelle Mawhinney, Sean McGee, Daniel J. McGoldrick, Michelle Mehaffey, Betselote Mekonnen, Xiaolu Meng, Tadahiro Mitani, Christina Y. Miyake, David Mohr, Shaine Morris, Thomas E. Mullen, David R. Murdock, Mullai Murugan, Donna M. Muzny, Ben Myers, Juanita Neira, Kevin K. Nguyen, Patrick M. Nielsen, Natalie Nudelman, Emily O’Heir, Melanie C. O’Leary, Chrissie Ongaco, Jordan Orange, Ikeoluwa A. Osei-Owusu, Ingrid S. Paine, Lynn S. Pais, Justin Paschall, Karynne Patterson, Davut Pehlivan, Benjamin Pelle, Samantha Penney, Jorge Perez de Acha Chavez, Emma Pierce-Hoffman, Cecilia M. Poli, Jaya Punetha, Aparna Radhakrishnan, Matthew A. Richardson, Eliete Rodrigues, Gwendolin T. Roote, Jill A. Rosenfeld, Erica L. Ryke, Aniko Sabo, Alice Sanchez, Isabelle Schrauwen, Daryl A. Scott, Fritz Sedlazeck, Jillian Serrano, Chad A. Shaw, Tameka Shelford, Kathryn M. Shively, Moriel Singer-Berk, Joshua D. Smith, Hana Snow, Grace Snyder, Matthew Solomonson, Rachel G. Son, Xiaofei Song, Pawel Stankiewicz, Taylorlyn Stephan, V. Reid Sutton, Abigail Sveden, Diana Cornejo Sánchez, Monica Tackett, Michael Talkowski, Machiko S. Threlkeld, Grace Tiao, Miriam S. Udler, Laura Vail, Zaheer Valivullah, Elise Valkanas, Grace E. VanNoy, Qingbo S. Wang, Gao Wang, Lu Wang, Michael F. Wangler, Nicholas A. Watts, Ben Weisburd, Jeffrey M. Weiss, Marsha M. Wheeler, Janson J. White, Clara E. Williamson, Michael W. Wilson, Wojciech Wiszniewski, Marjorie A. Withers, Dane Witmer, Lauren Witzgall, Elizabeth Wohler, Monica H. Wojcik, Isaac Wong, Jordan C. Wood, Nan Wu, Jinchuan Xing, Yaping Yang, Qian Yi, Bo Yuan, Jordan E. Zeiger, Chaofan Zhang, Peng Zhang, Yan Zhang, Xiaohong Zhang, Yeting Zhang, Shifa Zhang, Huda Zoghbi, Igna van den Veyver
Publikováno v:
Genet Med
PURPOSE: Mendelian disease genomic research has undergone a massive transformation over the past decade. With increasing availability of exome and genome sequencing, the role of Mendelian research has expanded beyond data collection, sequencing, and
Autor:
Ariadne R. Lima, Barbara M. Ferreira, Chaofan Zhang, Angad Jolly, Haowei Du, Janson J. White, Moez Dawood, Tulio C. Lins, Marcela A. Chiabai, Ellen van Beusekom, Mara S. Cordoba, Erica C.C. Caldas Rosa, Hulya Kayserili, Virginia Kimonis, Erica Wu, Cecilia Mellado, Vineet Aggarwal, Antonio Richieri‐Costa, Décio Brunoni, Talyta M. Canó, Alexander A. L. Jorge, Chong A. Kim, Rachel Honjo, Débora R. Bertola, Raissa M. Dandalo‐Girardi, Yavuz Bayram, Alper Gezdirici, Elif Yilmaz‐Gulec, Evren Gumus, Gülay C. Yilmaz, Nobuhiko Okamoto, Hirofumi Ohashi, Zeynep Coban–Akdemir, Tadahiro Mitani, Shalini N. Jhangiani, Donna M. Muzny, Neysa A.P. Regattieri, Robert Pogue, Rinaldo W. Pereira, Paulo A. Otto, Richard A. Gibbs, Bassam R. Ali, Hans van Bokhoven, Han G. Brunner, V. Reid Sutton, James R. Lupski, Angela M. Vianna‐Morgante, Claudia M. B. Carvalho, Juliana F. Mazzeu
Publikováno v:
Human Mutation. 43
Autor:
Ariadne R. Lima, Barbara M. Ferreira, Chaofan Zhang, Angad Jolly, Haowei Du, Janson J. White, Moez Dawood, Tulio C. Lins, Marcela A. Chiabai, Ellen van Beusekom, Mara S. Cordoba, Erica C.C. Caldas Rosa, Hulya Kayserili, Virginia Kimonis, Erica Wu, Cecilia Mellado, Vineet Aggarwal, Antonio Richieri‐Costa, Décio Brunoni, Talyta M. Canó, Alexander A. L. Jorge, Chong A. Kim, Rachel Honjo, Débora R. Bertola, Raissa M. Dandalo‐Girardi, Yavuz Bayram, Alper Gezdirici, Elif Yilmaz‐Gulec, Evren Gumus, Gülay C. Yilmaz, Nobuhiko Okamoto, Hirofumi Ohashi, Zeynep Coban–Akdemir, Tadahiro Mitani, Shalini N. Jhangiani, Donna M. Muzny, Neysa A.P. Regattieri, Robert Pogue, Rinaldo W. Pereira, Paulo A. Otto, Richard A. Gibbs, Bassam R. Ali, Hans van Bokhoven, Han G. Brunner, V. Reid Sutton, James R. Lupski, Angela M. Vianna‐Morgante, Claudia M. B. Carvalho, Juliana F. Mazzeu
Publikováno v:
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Human Mutation, 43, 7, pp. 900-918
Human Mutation, 43, 900-918
Hum Mutat
Universidade de São Paulo (USP)
instacron:USP
Human Mutation, 43, 7, pp. 900-918
Human Mutation, 43, 900-918
Hum Mutat
Contains fulltext : 252015.pdf (Publisher’s version ) (Open Access) Robinow syndrome is characterized by a triad of craniofacial dysmorphisms, disproportionate-limb short stature, and genital hypoplasia. A significant degree of phenotypic variabili
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::89bd78d59d41fce955db143c3c377ec2
Autor:
Zhang C; Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA., Jolly A; Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA.; Medical Scientist Training Program, BCM, Houston, TX 77030, USA., Shayota BJ; Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA.; Texas Children's Hospital, Houston, TX 77030, USA., Mazzeu JF; University of Brasilia, Brasilia 70050, Brazil.; Robinow Syndrome Foundation, Anoka, MN 55303, USA., Du H; Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA., Dawood M; Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA.; Medical Scientist Training Program, BCM, Houston, TX 77030, USA.; Human Genome Sequencing Center, BCM, Houston, TX 77030, USA., Soper PC; GeneDx Inc., Gaithersburg, MD 20878, USA., Ramalho de Lima A; University of Brasilia, Brasilia 70050, Brazil., Ferreira BM; University of Brasilia, Brasilia 70050, Brazil., Coban-Akdemir Z; Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA.; Human Genetics Center, Department of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health, UTHealth, Houston, TX 77030, USA., White J; Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA., Shears D; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 7HE, UK., Thomson FR; Cardiothoracic Surgery, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 7HE, UK., Douglas SL; NHS Lothian, Edinburgh EH1 3EG, UK., Wainwright A; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 7HE, UK., Bailey K; Pediatric Rheumatology, Nuffield Orthopedic Centre, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 7HE, UK., Wordsworth P; Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Sciences, Botnar Research Centre, Oxford OX3 7LD, UK., Oldridge M; Oxford Regional Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 7LE, UK., Lester T; Oxford Regional Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 7LE, UK., Calder AD; Radiology Department, Great Ormond Street Hospital NHS Foundation Trust, London WC1N 3JH, UK., Dumic K; Department of Pediatric Endocrinology and Diabetes, University Clinical Center Zagreb, Zagreb 10000, Croatia., Banka S; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester M13 9WL, UK.; Manchester Center for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester M13 9WL, UK., Donnai D; Manchester Center for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester M13 9WL, UK., Jhangiani SN; Human Genome Sequencing Center, BCM, Houston, TX 77030, USA., Potocki L; Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA.; Texas Children's Hospital, Houston, TX 77030, USA., Chung WK; Department of Pediatrics and Medicine, Columbia University, NY 10032, USA., Mora S; GeneDx Inc., Gaithersburg, MD 20878, USA., Northrup H; Department of Pediatrics, McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth Houston) and Children's Memorial Hermann Hospital, Houston, TX 77030, USA., Ashfaq M; Department of Pediatrics, McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth Houston) and Children's Memorial Hermann Hospital, Houston, TX 77030, USA., Rosenfeld JA; Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA., Mason K; GeneDx Inc., Gaithersburg, MD 20878, USA.; Arnold Palmer Hospital for Children, Orlando, FL 32806, USA., Pollack LC; Arnold Palmer Hospital for Children, Orlando, FL 32806, USA., McConkie-Rosell A; Division of Medical Genetics, Duke University Medical Center, Durham, NC 27708, USA., Kelly W; Division of Medical Genetics, Duke University Medical Center, Durham, NC 27708, USA., McDonald M; Division of Medical Genetics, Duke University Medical Center, Durham, NC 27708, USA., Hauser NS; Medical Genetics, Inova Fairfax Hospital, Falls Church, VA 22042, USA., Leahy P; Cook Children's Hospital, Fort Worth, TX 76104, USA., Powell CM; Division of Pediatric Genetics and Metabolism, University of North Carolina at Chapel Hill School of Medicine, Chapel Hill, NC 27599, USA., Boy R; State University of Rio de Janeiro, Rio de Janeiro 21941, Brazil., Honjo RS; Unidade de Genética, Instituto da Criança - Hospital das Clinicas HCFMUSP, Faculdade de Medicina, University of Sao Paulo, São Paulo 05508, Brasil., Kok F; Mendelics Análise Genômica, São Paulo 04013, Brasil., Martelli LR; Department of Genetics, Ribeirao Preto Medical School, University of Sao Paulo, São Paulo 05508, Brazil., Filho VO; Instituto de Tratamento do Câncer Infantil, São Paulo University Medical School, Hospital Israelita Albert Einstein, São Paulo 05508, Brasil., Genomics England Research Consortium; Genomics England and William Harvey Research Institute, Queen Mary University of London, London EC1M 6BQ, UK., Muzny DM; Human Genome Sequencing Center, BCM, Houston, TX 77030, USA., Gibbs RA; Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA.; Human Genome Sequencing Center, BCM, Houston, TX 77030, USA., Posey JE; Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA., Liu P; Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA.; Baylor Genetics, Houston, TX 77021, USA., Lupski JR; Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA.; Texas Children's Hospital, Houston, TX 77030, USA.; Human Genome Sequencing Center, BCM, Houston, TX 77030, USA.; Department of Pediatrics, BCM, Houston, TX 77030, USA., Sutton VR; Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA.; Texas Children's Hospital, Houston, TX 77030, USA., Carvalho CMB; Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA.; Pacific Northwest Research Institute (PNRI), Seattle, WA 98122, USA.
Publikováno v:
HGG advances [HGG Adv] 2021 Dec 03; Vol. 3 (1), pp. 100074. Date of Electronic Publication: 2021 Dec 03 (Print Publication: 2022).
Autor:
Zhang C; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Mazzeu JF; University of Brasilia, Brasilia, Brazil.; Robinow Syndrome Foundation, Anoka, Minnesota, USA., Eisfeldt J; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Science for Life Laboratory, Karolinska Institutet, Stockholm, Sweden., Grochowski CM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., White J; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Akdemir ZC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA., Muzny DM; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA., Gibbs RA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA., Lindstrand A; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA., Sutton VR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA., Carvalho CMB; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Pacific Northwest Research Institute (PNRI), Seattle, Washington, USA.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2021 Dec; Vol. 185 (12), pp. 3593-3600. Date of Electronic Publication: 2020 Oct 13.
Autor:
Mirzaa GM; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA. ghayda.mirzaa@seattlechildrens.org.; Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA, USA. ghayda.mirzaa@seattlechildrens.org.; Brotman Baty Institute for Precision Medicine, Seattle, Washington, USA. ghayda.mirzaa@seattlechildrens.org., Chong JX; Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA, USA.; Brotman Baty Institute for Precision Medicine, Seattle, Washington, USA., Piton A; Molecular Genetic Unit, Strasbourg University Hospital, Strasbourg, France.; Institute of Genetics and Molecular and Cellular Biology, Université de Strasbourg, Illkirch, France., Popp B; Institute of Human Genetics, University Hospital Elrangen, Friedrich-Alexander-Universität (FAU) Erlangen-Nürnberg, Erlangen, Germany., Foss K; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA., Guo H; Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China., Harripaul R; The Campbell Family Mental Health Research Institute, Centre for Addiction & Mental Health (CAMH), Toronto, ON, Canada.; Institute of Medical Science, University of Toronto, Toronto, ON, Canada., Xia K; Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China., Scheck J; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA., Aldinger KA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA., Sajan SA; Department of Clinical Genomics, Ambry Genetics, Aliso Viejo, CA, USA., Tang S; WuXi NextCODE, Cambridge, MA, USA., Bonneau D; Département de Biochimie et de Génétique, CHU d'Angers, Angers, France.; UMR INSERM 1083 CNRS 6015, Angers, France., Beck A; Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA, USA., White J; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA., Mahida S; Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD, USA., Harris J; Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD, USA., Smith-Hicks C; Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD, USA., Hoyer J; Institute of Human Genetics, University Hospital Elrangen, Friedrich-Alexander-Universität (FAU) Erlangen-Nürnberg, Erlangen, Germany., Zweier C; Institute of Human Genetics, University Hospital Elrangen, Friedrich-Alexander-Universität (FAU) Erlangen-Nürnberg, Erlangen, Germany., Reis A; Institute of Human Genetics, University Hospital Elrangen, Friedrich-Alexander-Universität (FAU) Erlangen-Nürnberg, Erlangen, Germany., Thiel CT; Institute of Human Genetics, University Hospital Elrangen, Friedrich-Alexander-Universität (FAU) Erlangen-Nürnberg, Erlangen, Germany., Jamra RA; Institute of Human Genetics, University Medical Center Leipzig, Leipzig, Germany., Zeid N; Yale New Haven Health, New Haven, CT, USA., Yang A; Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, OR, USA., Farach LS; Department of Pediatrics, McGovern Medical School at the University of Texas Health Sciences Center, Houston, TX, USA., Walsh L; Indiana University Health at Riley Hospital for Children, Indianapolis, IN, USA., Payne K; Indiana University Health at Riley Hospital for Children, Indianapolis, IN, USA., Rohena L; Division of Genetics, Department of Pediatrics, San Antonio Military Medical Center, San Antonio, TX, USA.; Department of Pediatrics, University of Texas Health Science Center at San Antonio, San Antonio, TX, USA., Velinov M; New York State Institute for Basic Research in Developmental Disability, NY, Staten Island, USA., Ziegler A; Département de Biochimie et de Génétique, CHU d'Angers, Angers, France.; Service de Génétique Médicale, Centre hospitalier, Le Mans, France., Schaefer E; Service de Génétique Médicale, Hôpitaux Universitaires de Strasbourg, Institut de Génétique Médicale d'Alsace, Strasbourg, France., Gatinois V; Service de génétique clinique, Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, Strasbourg, France.; Centre de Référence Maladies Rares Anomalies du Développement et Syndromes Malformatifs Sud-Ouest Occitanie Réunion, Hôpital Arnaud de Villeneuve, Montpellier, France.; Université Montpellier, Unité Inserm U1183, Montpellier, France., Geneviève D; Service de génétique clinique, Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, Strasbourg, France.; Centre de Référence Maladies Rares Anomalies du Développement et Syndromes Malformatifs Sud-Ouest Occitanie Réunion, Hôpital Arnaud de Villeneuve, Montpellier, France.; Université Montpellier, Unité Inserm U1183, Montpellier, France., Simon MEH; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Kohler J; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA, USA., Rotenberg J; Memorial Hermann Memorial City Medical Center, Houston, TX, USA., Wheeler P; Arnold Palmer Hospital for Children, Orlando, FL, USA., Larson A; Section of Genetics, Department of Pediatrics, University of Colorado School of Medicine and Children's Hospital Colorado, Aurora, CO, USA., Ernst ME; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA., Akman CI; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA.; Division of Pediatric Neurology, Columbia University Irving Medical Center, New York, NY, USA., Westman R; Division of Genetics, St. Luke's Clinic, Boise, ID, USA., Blanchet P; Centre de Référence Maladies Rares Anomalies du Développement et Syndromes Malformatifs Sud-Ouest Occitanie Réunion, Hôpital Arnaud de Villeneuve, Montpellier, France., Schillaci LA; Department of Genetics and Genome Sciences, Case Western Reserve University, University Hospitals Cleveland Medical Center, Cleveland, OH, USA., Vincent-Delorme C; Service de Génétique Clinique Guy Fontaine Centre de référence maladies rares Anomalies du dévelopement, Hôpital Jeanne de Flandre Lille, Lille, France., Gripp KW; Department of Pediatrics, AI duPont Hospital, DE, Wilmington, USA., Mattioli F; Institut de Genetique et de Biologie Moleculaire et Cellulaire, Illkirch-Graffenstaden, Lille, France., Guyader GL; Service de Génétique Clinique, Centre de compétence Maladies rares Anomalies du dévelopement, CHU de Poitiers, Poitiers, France., Gerard B; Molecular Genetic Unit, Strasbourg University Hospital, Strasbourg, France., Mathieu-Dramard M; Service de Génétique Clinique Centre de référence maladies rares Anomalies du dévelopement, CHU Amiens-Picardie, Amiens, France., Morin G; Children's Medical Center, UMass Memorial Medical Center, Worcester, MA, USA., Sasanfar R; Children's Medical Center, UMass Memorial Medical Center, Worcester, MA, USA., Ayub M; Department of Psychiatry, Queen's University, Kingston, ON, Canada., Vasli N; Division of Clinical & Metabolic Genetics, Hospital for Sick Children, Toronto, ON, Canada., Yang S; GeneDx, Gaithersburg, MD, USA., Person R; GeneDx, Gaithersburg, MD, USA., Monaghan KG; GeneDx, Gaithersburg, MD, USA., Nickerson DA; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA., van Binsbergen E; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Enns GM; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA, USA.; Division of Medical Genetics, Department of Pediatrics, Lucile Packard Children's Hospital, Stanford University, Stanford, CA, USA., Dries AM; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA, USA., Rowe LJ; Section of Genetics, Department of Pediatrics, University of Colorado School of Medicine and Children's Hospital Colorado, Aurora, CO, USA., Tsai ACH; Section of Genetics, Department of Pediatrics, University of Colorado School of Medicine and Children's Hospital Colorado, Aurora, CO, USA., Svihovec S; Section of Genetics, Department of Pediatrics, University of Colorado School of Medicine and Children's Hospital Colorado, Aurora, CO, USA., Friedman J; Departments of Neurosciences and Pediatrics, University of California San Diego and Division of Neurology, Rady Children's Hospital, San Diego, CA, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA., Agha Z; Department of Biosciences, COMSATS University, Islamabad, Pakistan., Qamar R; Department of Biosciences, COMSATS University, Islamabad, Pakistan., Rodan LH; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Martinez-Agosto J; David Geffen School of Medicine at UCLA, Los Angeles, CA, USA., Ockeloen CW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Vincent M; CHU de Nantes, Service de génétique médicale, Nantes, France., Sunderland WJ; University of Washington Foundation Board, University of Washington, Seattle, WA, USA., Bernstein JA; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA, USA.; Division of Medical Genetics, Department of Pediatrics, Lucile Packard Children's Hospital, Stanford University, Stanford, CA, USA., Eichler EE; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Howard Hughes Medical Institute, University of Washington, Seattle, WA, USA., Vincent JB; The Campbell Family Mental Health Research Institute, Centre for Addiction & Mental Health (CAMH), Toronto, ON, Canada.; Institute of Medical Science, University of Toronto, Toronto, ON, Canada., Bamshad MJ; Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA, USA.; Brotman Baty Institute for Precision Medicine, Seattle, Washington, USA.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2020 Mar; Vol. 22 (3), pp. 538-546. Date of Electronic Publication: 2019 Nov 14.
Autor:
Jenkins MM; National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia., Almli LM; National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia.; Carter Consulting Incorporated, Atlanta, Georgia., Pangilinan F; National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland., Chong JX; Department of Pediatrics, University of Washington, Seattle, Washington., Blue EE; Department of Medicine, University of Washington, Seattle, Washington., Shapira SK; National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia., White J; Department of Pediatrics, University of Washington, Seattle, Washington., McGoldrick D; Department of Genome Sciences, University of Washington, Seattle, Washington., Smith JD; Department of Genome Sciences, University of Washington, Seattle, Washington., Mullikin JC; National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland., Bean CJ; National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia., Nembhard WN; Fay W Boozman College of Public Health, University of Arkansas for Medical Sciences, Little Rock, Arkansas., Lou XY; College of Medicine, University of Arkansas for Medical Sciences, Little Rock, Arkansas., Shaw GM; Stanford University School of Medicine, Department of Pediatrics, Stanford, California., Romitti PA; Department of Epidemiology, University of Iowa, Iowa City, Iowa., Keppler-Noreuil K; Children's National Medical Center, George Washington University, Washington, District of Columbia., Yazdy MM; Massachusetts Department of Public Health, Boston, Massachusetts., Kay DM; Division of Genetics, Wadsworth Center, New York State Department of Health, Albany, New York., Carter TC; Marshfield Clinic Research Institute, Marshfield, Wisconsin., Olshan AF; Department of Epidemiology, Gillings School of Global Public Health, University of North Carolina, Chapel Hill, North Carolina., Moore KJ; Department of Epidemiology, Gillings School of Global Public Health, University of North Carolina, Chapel Hill, North Carolina., Nascone-Yoder N; Department of Molecular Biomedical Sciences, College of Veterinary Medicine, North Carolina State University, Raleigh, North Carolina., Finnell RH; Center for Precision Environmental Health, Departments of Molecular & Cellular Biology and Medicine, Baylor College of Medicine, Houston, Texas., Lupo PJ; Department of Pediatrics, Section of Hematology-Oncology, Baylor College of Medicine, Houston, Texas., Feldkamp ML; Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah., Nickerson DA; Department of Genome Sciences, University of Washington, Seattle, Washington., Bamshad MJ; Department of Pediatrics, University of Washington, Seattle, Washington.; Department of Genome Sciences, University of Washington, Seattle, Washington., Brody LC; National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland., Reefhuis J; National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia.
Publikováno v:
Birth defects research [Birth Defects Res] 2019 Dec 01; Vol. 111 (20), pp. 1618-1632. Date of Electronic Publication: 2019 Jul 21.
Autor:
White J; Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, 77030, USA., Beck CR; Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, 77030, USA., Harel T; Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, 77030, USA., Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, 77030, USA., Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA., Tang S; Ambry Genetics, Aliso Viejo, CA, 92656, USA., Farwell KD; Ambry Genetics, Aliso Viejo, CA, 92656, USA., Powis Z; Ambry Genetics, Aliso Viejo, CA, 92656, USA., Mendelsohn NJ; Children's Hospitals and Clinics of Minnesota, Minneapolis, MN, 55102, USA., Baker JA; Children's Hospitals and Clinics of Minnesota, Minneapolis, MN, 55102, USA., Pollack L; Arnold Palmer Medical Center, Division of Genetics, Orlando, FL, 32806, USA., Mason KJ; Arnold Palmer Medical Center, Division of Genetics, Orlando, FL, 32806, USA., Wierenga KJ; University of Oklahoma Health Sciences Center, Oklahoma City, OK, 73104, USA., Arrington DK; University of Oklahoma Health Sciences Center, Oklahoma City, OK, 73104, USA., Hall M; University of Oklahoma Health Sciences Center, Oklahoma City, OK, 73104, USA., Psychogios A; Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN, 37212, USA., Fairbrother L; Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN, 37212, USA., Walkiewicz M; Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, 77030, USA.; Exome Laboratory, Baylor Miraca Genetics Laboratory, Houston, TX, 77030, USA., Person RE; Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, 77030, USA.; Exome Laboratory, Baylor Miraca Genetics Laboratory, Houston, TX, 77030, USA., Niu Z; Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, 77030, USA.; Exome Laboratory, Baylor Miraca Genetics Laboratory, Houston, TX, 77030, USA., Zhang J; Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, 77030, USA.; Exome Laboratory, Baylor Miraca Genetics Laboratory, Houston, TX, 77030, USA., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, 77030, USA.; Exome Laboratory, Baylor Miraca Genetics Laboratory, Houston, TX, 77030, USA., Muzny DM; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA., Eng C; Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, 77030, USA.; Exome Laboratory, Baylor Miraca Genetics Laboratory, Houston, TX, 77030, USA., Beaudet AL; Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, 77030, USA.; Texas Children's Hospital, Houston, TX, 77030, USA., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, 77030, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, 77030, USA.; Texas Children's Hospital, Houston, TX, 77030, USA., Boerwinkle E; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA.; University of Texas Health Science Center, Houston, TX, USA., Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, 77030, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA., Yang Y; Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, 77030, USA., Xia F; Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, 77030, USA.; Exome Laboratory, Baylor Miraca Genetics Laboratory, Houston, TX, 77030, USA., Sutton VR; Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, 77030, USA. vrsutton@texaschildrens.org.
Publikováno v:
Genome medicine [Genome Med] 2016 Jan 06; Vol. 8 (1), pp. 3. Date of Electronic Publication: 2016 Jan 06.