Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signaling.
Autorzy:
Marom R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.; Texas Children's Hospital, Houston, Texas, United States of America. Zhang B; Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri, United States of America. Washington ME; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America. Song IW; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America. BurrageLC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.; Texas Children's Hospital, Houston, Texas, United States of America. Rossi VC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.; Texas Children's Hospital, Houston, Texas, United States of America. Berrier AS; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America. Lindsey A; Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri, United States of America. Lesinski J; Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri, United States of America. Nonet ML; Department of Neuroscience, Washington University School of Medicine, St Louis, Missouri, United States of America. Chen J; Department of Genetics, Washington University School of Medicine, St Louis, Missouri, United States of America. Baldridge D; Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri, United States of America. Silverman GA; Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri, United States of America. Sutton VR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.; Texas Children's Hospital, Houston, Texas, United States of America. Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America. Tran AA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America. Hicks MJ; Texas Children's Hospital, Houston, Texas, United States of America.; Department of Pathology & Immunology, Baylor College of Medicine, Houston, Texas, United States of America. Murdock DR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America. Dai H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America. Weis M; Department of Orthopaedics and Sports Medicine, University of Washington, Seattle, Washington, United States of America. Jhangiani SN; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America. Muzny DM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America. Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America. Caswell R; Exeter Genomics Laboratory, Royal Devon University Healthcare NHS Foundation Trust, Exeter, United Kingdom. Pottinger C; All Wales Medical Genomics Service, Wrexham Maelor Hospital, Wrexham, UK. Cilliers D; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom. Stals K; Exeter Genomics Laboratory, Royal Devon University Healthcare NHS Foundation Trust, Exeter, United Kingdom. Eyre D; Department of Orthopaedics and Sports Medicine, University of Washington, Seattle, Washington, United States of America. Krakow D; Human Genetics, Obstetrics & Gynecology, Orthopedic Surgery, University of California, Los Angeles, California, United States of America. Schedl T; Department of Genetics, Washington University School of Medicine, St Louis, Missouri, United States of America. Pak SC; Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri, United States of America. Lee BH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.; Texas Children's Hospital, Houston, Texas, United States of America.
Clinical diagnosis of metabolic disorders using untargeted metabolomic profiling and disease-specific networks learned from profiling data.
Autorzy:
Thistlethwaite LR; Quantitative and Computational Biosciences Program, Baylor College of Medicine, One Baylor Plaza, 400D, Houston, TX, 77030, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. Li X; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. BurrageLC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA. Riehle K; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. Hacia JG; Department of Biochemistry and Molecular Medicine, Keck School of Medicine of the University of Southern California, Los Angeles, CA, USA. Braverman N; Department of Pediatrics and Human Genetics, McGill University, Montreal, QC, Canada. Wangler MF; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Jan and Dan Duncan Texas Children's Hospital Neurological Research Institute, Houston, TX, USA. Miller MJ; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA. Elsea SH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. Milosavljevic A; Quantitative and Computational Biosciences Program, Baylor College of Medicine, One Baylor Plaza, 400D, Houston, TX, 77030, USA. .; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. .
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Źródło:
Scientific reports [Sci Rep] 2022 Apr 21; Vol. 12 (1), pp. 6556. Date of Electronic Publication: 2022 Apr 21.
De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures.
Autorzy:
Royer-Bertrand B; Division of Genetic Medicine, Lausanne University Hospital (CHUV) and University of Lausanne, Lausanne, Switzerland. . Jequier Gygax M; Division of Autistic Spectrum Disorders, Department of Psychiatry, Lausanne University Hospital (CHUV), Lausanne, Switzerland. Cisarova K; Division of Genetic Medicine, Lausanne University Hospital (CHUV) and University of Lausanne, Lausanne, Switzerland. Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. Bassetti JA; Division of Medical Genetics, Department of Pediatrics, Weill Cornell Medicine, New York, NY, USA. Moldovan O; Serviço de Genética Médica, Departamento de Pediatria, Hospital de Santa Maria, Centro Hospitalar Universitário de Lisboa Norte, Lisbon, Portugal. O'Heir E; Center for Mendelian Genomics and Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA. BurrageLC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. Allen J; The Broad Institute of MIT and Harvard, Cambridge, MA, USA. Emrick LT; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Department of Neurology, Baylor College of Medicine, Houston, TX, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA. Eastman E; Department of Paediatrics and Child Health, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa. Kumps C; Division of Genetic Medicine, Lausanne University Hospital (CHUV) and University of Lausanne, Lausanne, Switzerland. Abbas S; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan. Van Winckel G; Division of Genetic Medicine, Lausanne University Hospital (CHUV) and University of Lausanne, Lausanne, Switzerland. Chabane N; Division of Autistic Spectrum Disorders, Department of Psychiatry, Lausanne University Hospital (CHUV), Lausanne, Switzerland. Zackai EH; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA. Lebon S; Unit of Paediatric Neurology and Pediatric Neurorehabiliation, Woman-Mother-Child Department, Lausanne University Hospital, Lausanne, Switzerland. Keena B; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA. Bhoj EJ; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA. Umair M; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.; Department of Life Sciences, School of Science, University of Management and Technology (UMT), Lahore, Pakistan. Li D; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA. Donald KA; Department of Paediatrics and Child Health, Red Cross War Memorial Children's Hospital, Cape Town, South Africa.; Neuroscience Institute, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa. Superti-Furga A; Division of Genetic Medicine, Lausanne University Hospital (CHUV) and University of Lausanne, Lausanne, Switzerland.
Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network.
Autorzy:
Cope H; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA. Spillmann R; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA. Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. Brokamp E; Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA. Signer R; Department of Human Genetics, University of California, Los Angeles, CA, USA. Schoch K; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA. Kelley EG; Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA. Sullivan JA; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA. Macnamara E; Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, NIH, Bethesda, MD, USA. Lincoln S; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA. Golden-Grant K; Division of Medical Genetics, University of Washington, Seattle, WA, USA. Orengo JP; Department of Neurology, Baylor College of Medicine, Houston, TX, USA. Clark G; Department of Neurology, Baylor College of Medicine, Houston, TX, USA. BurrageLC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. Punetha J; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. Robertson A; Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA. Cogan J; Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA. Phillips JA 3rd; Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA. Martinez-Agosto J; Department of Human Genetics, University of California, Los Angeles, CA, USA. Shashi V; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.
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Corporate Authors:
Undiagnosed Diseases Network; Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, NIH, Bethesda, MD, USA.
Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.
Autorzy:
Vetrini F; Baylor Genetics, Houston, TX, 77021, USA.; Present address: Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, 46202, USA. McKee S; Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast, UK. Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. Suri M; Nottingham Genetics Service, Nottingham City Hospital, Nottingham, UK. Lewis AM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. Nugent KM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX, 78207, USA. Roeder E; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX, 78207, USA. Littlejohn RO; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX, 78207, USA. Holder S; North West Thames Regional Genetics Service, 759 Northwick Park Hospital, London, UK. Zhu W; Baylor Genetics, Houston, TX, 77021, USA. Alaimo JT; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. Graham B; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Present address: Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, 46202, USA. Harris JM; Dell Children's Medical Group, Austin, TX, 78723, USA. Gibson JB; Dell Children's Medical Group, Austin, TX, 78723, USA. Pastore M; Division of Genetic and Genomic Medicine, Nationwide Children's Hospital; and Department of Pediatrics, College of Medicine, Ohio State University, Columbus, OH, 43205, USA. McBride KL; Division of Genetic and Genomic Medicine, Nationwide Children's Hospital; and Department of Pediatrics, College of Medicine, Ohio State University, Columbus, OH, 43205, USA. Komara M; Department of Pediatrics, College of Medicine & Health Sciences, United Arab University, Al Ain, UAE. Al-Gazali L; Department of Pediatrics, College of Medicine & Health Sciences, United Arab University, Al Ain, UAE. Al Shamsi A; Department of Pediatrics, Tawam Hospital, Al-Ain, UAE. Fanning EA; Department of Pediatrics, Section of Genetics, University of Oklahoma Health Sciences Center, Oklahoma City, OK, 73104, USA. Wierenga KJ; Department of Pediatrics, Section of Genetics, University of Oklahoma Health Sciences Center, Oklahoma City, OK, 73104, USA.; Present address: Mayo Clinic Florida, Department of Clinical Genomics, Jacksonville, FL, 32224, USA. Scott DA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX, 77030, USA. Ben-Neriah Z; Department of Human Genetics and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem, Israel. Meiner V; Department of Human Genetics and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem, Israel. Cassuto H; The Hebrew University of Jerusalem, Jerusalem, Israel. Elpeleg O; Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, 91120, Jerusalem, Israel. Lloyd Holder J Jr; Department of Pediatrics, Texas Children's Hospital, Houston, TX, 77030, USA. BurrageLC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. Seaver LH; Department of Pediatrics, University of Hawaii, Honolulu, HI, 96826, USA. Van Maldergem L; Centre de Génétique Humaine, Université de Franche-Comté, Besançon, France. Mahida S; Department of Neurology, Boston Children's Hospital, Boston, MA, 0211, USA. Soul JS; Department of Neurology, Boston Children's Hospital, Boston, MA, 0211, USA. Marlatt M; Department of Neurology, Boston Children's Hospital, Boston, MA, 0211, USA. Matyakhina L; Gene DX, Gaithersburg, MD, 20877, USA. Vogt J; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK. Gold JA; East Anglia Regional Genetics Service, Addenbrooke's Hospital, Cambridge, UK. Park SM; East Anglia Regional Genetics Service, Addenbrooke's Hospital, Cambridge, UK. Varghese V; All-Wales Medical Genetics Service, University Hospital of Wales, Cardiff, UK. Lampe AK; South East of Scotland Clinical Genetic Service, Western General Hospital, Edinburgh, UK. Kumar A; North East Thames Regional Genetics Service, Great Ormond Street Hospital, London, UK. Lees M; North East Thames Regional Genetics Service, Great Ormond Street Hospital, London, UK. Holder-Espinasse M; South East Thames Regional Genetics Service, Guy's Hospital, London, UK. McConnell V; Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast, UK. Bernhard B; North West Thames Regional Genetics Service, 759 Northwick Park Hospital, London, UK. Blair E; Oxford Regional Genetics Service, Oxford University Hospitals, Oxford, UK. Harrison V; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK. Muzny DM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA. Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA. Elsea SH; Baylor Genetics, Houston, TX, 77021, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. Bi W; Baylor Genetics, Houston, TX, 77021, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. Lalani S; Baylor Genetics, Houston, TX, 77021, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Department of Pediatrics, Texas Children's Hospital, Houston, TX, 77030, USA. Xia F; Baylor Genetics, Houston, TX, 77021, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. Yang Y; Baylor Genetics, Houston, TX, 77021, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. Eng CM; Baylor Genetics, Houston, TX, 77021, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. Lupski JR; Baylor Genetics, Houston, TX, 77021, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA.; Department of Pediatrics, Texas Children's Hospital, Houston, TX, 77030, USA. Liu P; Baylor Genetics, Houston, TX, 77021, USA. .; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. .
De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.
Autorzy:
Vetrini F; Baylor Genetics, Houston, TX, 77021, USA.; Present address: Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, 46202, USA. McKee S; Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast, UK. Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. Suri M; Nottingham Genetics Service, Nottingham City Hospital, Nottingham, UK. Lewis AM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. Nugent KM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX, 78207, USA. Roeder E; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX, 78207, USA. Littlejohn RO; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX, 78207, USA. Holder S; North West Thames Regional Genetics Service, 759 Northwick Park Hospital, London, UK. Zhu W; Baylor Genetics, Houston, TX, 77021, USA. Alaimo JT; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. Graham B; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Present address: Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, 46202, USA. Harris JM; Dell Children's Medical Group, Austin, TX, 78723, USA. Gibson JB; Dell Children's Medical Group, Austin, TX, 78723, USA. Pastore M; Division of Genetic and Genomic Medicine, Nationwide Children's Hospital; and Department of Pediatrics, College of Medicine, Ohio State University, Columbus, OH, 43205, USA. McBride KL; Division of Genetic and Genomic Medicine, Nationwide Children's Hospital; and Department of Pediatrics, College of Medicine, Ohio State University, Columbus, OH, 43205, USA. Komara M; Department of Pediatrics, College of Medicine & Health Sciences, United Arab University, Al Ain, UAE. Al-Gazali L; Department of Pediatrics, College of Medicine & Health Sciences, United Arab University, Al Ain, UAE. Al Shamsi A; Department of Pediatrics, Tawam Hospital, Al-Ain, UAE. Fanning EA; Department of Pediatrics, Section of Genetics, University of Oklahoma Health Sciences Center, Oklahoma City, OK, 73104, USA. Wierenga KJ; Department of Pediatrics, Section of Genetics, University of Oklahoma Health Sciences Center, Oklahoma City, OK, 73104, USA.; Present address: Mayo Clinic Florida, Department of Clinical Genomics, Jacksonville, FL, 32224, USA. Scott DA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX, 77030, USA. Ben-Neriah Z; Department of Human Genetics and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem, Israel. Meiner V; Department of Human Genetics and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem, Israel. Cassuto H; The Hebrew University of Jerusalem, Jerusalem, Israel. Elpeleg O; Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, 91120, Jerusalem, Israel. Holder JL Jr; Department of Pediatrics, Texas Children's Hospital, Houston, TX, 77030, USA. BurrageLC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. Seaver LH; Department of Pediatrics, University of Hawaii, Honolulu, HI, 96826, USA. Van Maldergem L; Centre de Génétique Humaine, Université de Franche-Comté, Besançon, France. Mahida S; Department of Neurology, Boston Children's Hospital, Boston, MA, 0211, USA. Soul JS; Department of Neurology, Boston Children's Hospital, Boston, MA, 0211, USA. Marlatt M; Department of Neurology, Boston Children's Hospital, Boston, MA, 0211, USA. Matyakhina L; Gene DX, Gaithersburg, MD, 20877, USA. Vogt J; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners; and Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK. Gold JA; East Anglia Regional Genetics Service, Addenbrooke's Hospital, Cambridge, UK. Park SM; East Anglia Regional Genetics Service, Addenbrooke's Hospital, Cambridge, UK. Varghese V; All-Wales Medical Genetics Service, University Hospital of Wales, Cardiff, UK. Lampe AK; South East of Scotland Clinical Genetic Service, Western General Hospital, Edinburgh, UK. Kumar A; North East Thames Regional Genetics Service, Great Ormond Street Hospital, London, UK. Lees M; North East Thames Regional Genetics Service, Great Ormond Street Hospital, London, UK. Holder-Espinasse M; South East Thames Regional Genetics Service, Guy's Hospital, London, UK. McConnell V; Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast, UK. Bernhard B; North West Thames Regional Genetics Service, 759 Northwick Park Hospital, London, UK. Blair E; Oxford Regional Genetics Service, Oxford University Hospitals, Oxford, UK. Harrison V; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK. Muzny DM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA. Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA. Elsea SH; Baylor Genetics, Houston, TX, 77021, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. Bi W; Baylor Genetics, Houston, TX, 77021, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. Lalani S; Baylor Genetics, Houston, TX, 77021, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Department of Pediatrics, Texas Children's Hospital, Houston, TX, 77030, USA. Xia F; Baylor Genetics, Houston, TX, 77021, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. Yang Y; Baylor Genetics, Houston, TX, 77021, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. Eng CM; Baylor Genetics, Houston, TX, 77021, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. Lupski JR; Baylor Genetics, Houston, TX, 77021, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA.; Department of Pediatrics, Texas Children's Hospital, Houston, TX, 77030, USA. Liu P; Baylor Genetics, Houston, TX, 77021, USA. .; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. .
MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death.
Autorzy:
Eldomery MK; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. Akdemir ZC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. Vögtle FN; Institute of Biochemistry and Molecular Biology, ZBMZ and BIOSS Centre for Biological Signalling Studies and Faculty of Medicine, University of Freiburg, 79104, Freiburg, Germany. Charng WL; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. Mulica P; Institute of Biochemistry and Molecular Biology, ZBMZ and BIOSS Centre for Biological Signalling Studies and Faculty of Medicine, University of Freiburg, 79104, Freiburg, Germany. Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. Gambin T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. Gu S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. BurrageLC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Texas Children's Hospital, Houston, TX, 77030, USA. Al Shamsi A; Department of Pediatrics, Tawam Hospital, Al Ain, 15258, United Arab Emirates. Penney S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA. Zimmerman HH; Department of Pediatrics, University of Mississippi Medical Center, 2500N State St, Jackson, MS, 39216, USA. Muzny DM; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA. Wang X; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Baylor Miraca Genetics Laboratories, Baylor College of Medicine, Houston, TX, 77030, USA. Tang J; Medical Genetics Center, Jiang Men Maternity and Childhealth Care Hospital, Jiang Men, 529000, China. Medikonda R; Huffington Center on Aging, Baylor College of Medicine, Houston, TX, 77030, USA. Ramachandran PV; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Huffington Center on Aging, Baylor College of Medicine, Houston, TX, 77030, USA. Wong LJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Baylor Miraca Genetics Laboratories, Baylor College of Medicine, Houston, TX, 77030, USA. Boerwinkle E; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA.; Human Genetics Center, University of Texas Health Science Center at Houston, Houston, TX, 77030, USA. Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA. Eng CM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Baylor Miraca Genetics Laboratories, Baylor College of Medicine, Houston, TX, 77030, USA. Lalani SR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Texas Children's Hospital, Houston, TX, 77030, USA. Hertecant J; Department of Pediatrics, Tawam Hospital, Al Ain, 15258, United Arab Emirates. Rodenburg RJ; Radboud Center for Mitochondrial Medicine, Department of Pediatrics, RadboudUMC, 6500HB, Nijmegen, Netherlands. Abdul-Rahman OA; Department of Pediatrics, University of Mississippi Medical Center, 2500N State St, Jackson, MS, 39216, USA. Yang Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Baylor Miraca Genetics Laboratories, Baylor College of Medicine, Houston, TX, 77030, USA. Xia F; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Baylor Miraca Genetics Laboratories, Baylor College of Medicine, Houston, TX, 77030, USA. Wang MC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Huffington Center on Aging, Baylor College of Medicine, Houston, TX, 77030, USA. Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; 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. Meisinger C; Institute of Biochemistry and Molecular Biology, ZBMZ and BIOSS Centre for Biological Signalling Studies and Faculty of Medicine, University of Freiburg, 79104, Freiburg, Germany. Sutton VR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. .; Texas Children's Hospital, Houston, TX, 77030, USA. .
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Źródło:
Genome medicine [Genome Med] 2016 Nov 01; Vol. 8 (1), pp. 106. Date of Electronic Publication: 2016 Nov 01.
Typ publikacji:
Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
De novo deletions and duplications of 17q25.3 cause susceptibility to cardiovascular malformations.
Autorzy:
Probst FJ; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, MS BCM225, Houston, TX, USA. James RA; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, MS BCM225, Houston, TX, USA. BurrageLC; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, MS BCM225, Houston, TX, USA. Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, MS BCM225, Houston, TX, USA. Bohan TP; Department of Neurology, Memorial Hermann Texas Medical Center, Houston, TX, USA. Ward Melver CH; Genetic Center, Children's Hospital Medical Center Of Akron, Akron, OH, USA. Magoulas P; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, MS BCM225, Houston, TX, USA. Austin E; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, MS BCM225, Houston, TX, USA. Franklin AI; Department of Developmental Pediatrics, Texas Children's Hospital, Houston, TX, USA. Azamian M; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, MS BCM225, Houston, TX, USA. Xia F; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, MS BCM225, Houston, TX, USA. Patel A; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, MS BCM225, Houston, TX, USA. Bi W; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, MS BCM225, Houston, TX, USA. Bacino C; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, MS BCM225, Houston, TX, USA. Belmont JW; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, MS BCM225, Houston, TX, USA. Ware SM; Departments of Pediatrics and Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA. Shaw C; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, MS BCM225, Houston, TX, USA. Cheung SW; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, MS BCM225, Houston, TX, USA. Lalani SR; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, MS BCM225, Houston, TX, USA. .
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