Personal journeys to and in human genetics and dysmorphology.

Autor: Schwartz CE; Senior Research Scientist Emeritus, Greenwood Genetic Center, Greenwood, South Carolina, USA., Aylsworth AS; Emeritus Professor of Pediatrics and Genetics, The University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA., Allanson J; Professor of Paediatrics, University of Ottawa, Ottawa, Canada.; Clinical Geneticist, Children's Hospital of Eastern Ontario (Retired), Ottawa, Canada., Battaglia A; Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Pisa, Italy., Carey JC; Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah, USA., Curry CJ; Professor of Pediatrics, Emerita, UCSF, Adjunct Professor of Pediatrics, Stanford, Medical Director Genetic Medicine, Community Regional Medical Center, Fresno, California, USA., Davies KE; Department of Physiology, Anatomy and Genetics, MDUK Oxford Neuromuscular Centre, Oxford, UK., Eichler EE; Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, USA.; Howard Hughes Medical Institute, University of Washington, Seattle, Washington, USA., Graham JM Jr; Professor Emeritus, Division of Medical Genetics, Department of Pediatrics, Cedars-Sinai Medical Center, and David Geffen School of Medicine, University of California, Los Angeles (UCLA), Los Angeles, California, USA., Hall B; Emeritus, Department of Pediatrics, University of Kentucky, Lexington, Kentucky, USA., Hall JG; University of British Columbia and Children's and Women's Health Centre of British Columbia, Vancouver, British Columbia, Canada.; Department of Pediatrics and Medical Genetics, British Columbia Children's Hospital, Vancouver, Canada., Holmes LB; Emeritus Chief, Medical Genetics and Metabolism Unit, Mass General for Children; Professor of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA., Hoyme HE; Medical Director, Sanford Children's Genomic Medicine Consortium, Senior Advisor, Sanford Imagenetics, Sanford Health, Emeritus Professor and Past Chair, Department of Pediatrics, University of South Dakota Sanford School of Medicine, Sioux Falls, South Dakota, USA.; Adjunct Professor and Medical Director, Genetic Counseling Graduate Program, Augustana University, Sioux Falls, South Dakota, USA.; Extraordinary Professor of Psychiatry, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa., Hunter A; Emeritus Clinical Geneticist, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada., Innis J; Staff Physician, Pediatric Genetics, Golisano Children's Hospital of Southwest Florida, Fort Myers, Florida, USA.; Professor Emeritus of Human Genetics, Pediatrics and Internal Medicine, University of Michigan, Ann Arbor, Michigan, USA., Johnson J; Emeritus Clinical Geneticist, Department of Medical Genetics, Shodair Hospital, Helena, Montana, USA., Keppler-Noreuil KM; Professor of Pediatrics Division of Genetics & Metabolism, Program Director, Medical Genetics & Genomics Residency Training Program, Co-Director of the UW NORD Center of Excellence for Rare Diseases, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin, USA., Leroy JG; Professor Emeritus, Ghent University School of Medicine, Ghent, Belgium., Moore C; National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control, Atlanta, Georgia, USA., Nelson DL; Department of Molecular and Human Genetics, Jan and Dan Duncan Neurological Research Institute, Baylor College of Medicine, Houston, Texas, USA., Neri G; Institute of Genomic Medicine, Catholic University School of Medicine, Rome, Italy., Opitz JM; Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah, USA., Picketts D; Senior Scientist, Ottawa Hospital Research Institute, Ottawa, Ontario, Canada.; Professor, Departments of Medicine, Cellular and Molecular Medicine, University of Ottawa, Ottawa, Ontario, Canada., Raymond FL; Department of Medical Genetics, University of Cambridge, Cambridge, England., Shalev SA; The Genetics Institute, Emek Medical Center, Afula, Israel.; Rappaport Faculty of Medicine, Technion, Haifa, Israel., Stevenson RE; Equanimitas, Greenwood, South Carolina, USA., Stumpel CTRM; Emeritus Professor of Clinical Genetics, Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, Netherlands., Sutherland G; Emeritus Geneticist, Women's and Children's Hospital, Adelaide, South Australia, Australia.; Emeritus Professor, University of Adelaide, Adelaide, South Australia, Australia., Viskochil DH; Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah, USA., Weaver DD; Professor Emeritus of Medical and Molecular Genetics, Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana, USA., Zackai EH; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Jun; Vol. 194 (6), pp. e63514. Date of Electronic Publication: 2024 Feb 08.

Living history biography: An afterthought.

Autor: Opitz JM; Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, Utah, USA.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2021 May; Vol. 185 (5), pp. 1355-1362. Date of Electronic Publication: 2021 Mar 08.

An evolutionary and developmental biology approach to gastroschisis.

Autor: Opitz JM; Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah.; Department of Pathology, University of Utah School of Medicine, Salt Lake City, Utah.; Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, Utah.; Department of Obstetrics and Gynecology, University of Utah School of Medicine, Salt Lake City, Utah., Feldkamp ML; Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah., Botto LD; Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah.

Publikováno v: Birth defects research [Birth Defects Res] 2019 Apr 01; Vol. 111 (6), pp. 294-311. Date of Electronic Publication: 2019 Feb 28.

Philip D. Pallister of Montana.

Autor: Opitz JM; Departments of Pediatrics (Medical Genetics), Pathology, Human Genetics, Obstetrics-Gynecology, University of Utah School of Medicine, Salt Lake City, Utah., Mullen P; Department of History, Montana State University, Bozeman, Montana., Elias AF; Department of Medical Genetics, Shodair Children's Hospital, Helena, Montana.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2019 Jan; Vol. 179 (1), pp. 9-12. Date of Electronic Publication: 2018 Dec 20.

A De Novo FOXP1 Truncating Mutation in a Patient Originally Diagnosed as C Syndrome.

Autor: Urreizti R; Department of Genetics, Microbiology and Statistics, Faculty of Biology, University of Barcelona, IBUB, IRSJD, CIBERER, Barcelona, Spain. urreizti@ub.edu., Damanti S; Geriatric Unit, Fondazione Ca'Granda, IRCCS Ospedale Maggiore Policlinico, Milan, Italy.; Nutritional Sciences, University of Milan, Milan, Italy., Esteve C; Department of Genetics, Microbiology and Statistics, Faculty of Biology, University of Barcelona, IBUB, IRSJD, CIBERER, Barcelona, Spain., Franco-Valls H; Department of Genetics, Microbiology and Statistics, Faculty of Biology, University of Barcelona, IBUB, IRSJD, CIBERER, Barcelona, Spain., Castilla-Vallmanya L; Department of Genetics, Microbiology and Statistics, Faculty of Biology, University of Barcelona, IBUB, IRSJD, CIBERER, Barcelona, Spain., Tonda R; CNAG-CRG, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.; Universitat Pompeu Fabra (UPF), Barcelona, Spain., Cormand B; Department of Genetics, Microbiology and Statistics, Faculty of Biology, University of Barcelona, IBUB, IRSJD, CIBERER, Barcelona, Spain., Vilageliu L; Department of Genetics, Microbiology and Statistics, Faculty of Biology, University of Barcelona, IBUB, IRSJD, CIBERER, Barcelona, Spain., Opitz JM; Pediatrics Medical Genetics, University of Utah School of Medicine, Salt Lake City, Utah, USA., Neri G; Istituto di Medicina Genomica, Università Cattolica Sacro Cuore, Policlinico A. Gemelli, Rome, Italy., Grinberg D; Department of Genetics, Microbiology and Statistics, Faculty of Biology, University of Barcelona, IBUB, IRSJD, CIBERER, Barcelona, Spain., Balcells S; Department of Genetics, Microbiology and Statistics, Faculty of Biology, University of Barcelona, IBUB, IRSJD, CIBERER, Barcelona, Spain.

Publikováno v: Scientific reports [Sci Rep] 2018 Jan 12; Vol. 8 (1), pp. 694. Date of Electronic Publication: 2018 Jan 12.