Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations.

Autor: Werren EA; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, 48109, USA.; Advanced Precision Medicine Laboratory, The Jackson Laboratory for Genomic Medicine, Farmington, CTt, 06032, USA., Peirent ER; Neuroscience Graduate Program, University of Michigan, Ann Arbor, MI, 48109, USA., Jantti H; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA., Guxholli A; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, 48109, USA.; Department of Pediatrics, University of Michigan Medical School, Ann Arbor, MI, 48109, USA., Srivastava KR; Medicinal and Process Chemistry Division, CSIR-Central Drug Research Institute, Lucknow, 226031, India., Orenstein N; Schneider Children's Medical Center of Israel, Petah Tikva, 4920235, Israel., Narayanan V; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, 85004, USA., Wiszniewski W; Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, OR, 97239, USA., Dawidziuk M; Department of Medical Genetics, Institute of Mother and Child, Warsaw, 01-211, Poland., Gawlinski P; Department of Medical Genetics, Institute of Mother and Child, Warsaw, 01-211, Poland., Umair M; Medical Genomics Research Department, King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs, Riyadh, 11481, Saudi Arabia.; Department of Life Sciences, School of Science, University of Management and Technology, Lahore, Punjab, 54770, Pakistan., Khan A; Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, OR, 97239, USA.; Department of Zoology, University of Lakki Marwat, Lakki Marwat, Khyber Pakhtunkhwa, 28420, Pakistan., Khan SN; Department of Zoology, Kohat University of Science and Technology, Kohat, Pakistan., Geneviève D; Montpellier University, Inserm Unit U1183, Reference Center for Rare Diseases and Developmental Anomalies, CHU, 34000, Montpellier, France., Lehalle D; Sorbonne University, Department of Medical Genetics, Hospital Armand Trousseau, 75012, Paris, France., van Gassen KLI; Department of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht, 3584 EA, The Netherlands., Giltay JC; Department of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht, 3584 EA, The Netherlands., Oegema R; Department of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht, 3584 EA, The Netherlands., van Jaarsveld RH; Department of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht, 3584 EA, The Netherlands., Rafiullah R; Department of Biotechnology, Faculty of Life Sciences, BUITEMS, Quetta, 87300, Pakistan., Rappold GA; Department of Human Molecular Genetics, Institute of Human Genetics, Ruprecht-Karls-University, Heidelberg, 69120, Germany., Rabin R; Department of Pediatrics, NYU Grossman School of Medicine, New York, NY, 10016, USA., Pappas JG; Department of Pediatrics, NYU Grossman School of Medicine, New York, NY, 10016, USA., Wheeler MM; Department of Genome Sciences, University of Washington, Seattle, WA, 98195, USA., Bamshad MJ; Department of Pediatrics, University of Washington, Seattle, WA, 98195, USA.; Brotman Baty Institute, Washington, 98195, USA., Tsan YC; Division of Cardiovascular Medicine, University of Michigan, Ann Arbor, MI, 48109, USA., Johnson MB; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA., Keegan CE; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, 48109, USA.; Department of Pediatrics, University of Michigan Medical School, Ann Arbor, MI, 48109, USA., Srivastava A; Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, 226014, India. asrivastavapgi@gmail.com., Bielas SL; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, 48109, USA. sbielas@umich.edu.; Department of Pediatrics, University of Michigan Medical School, Ann Arbor, MI, 48109, USA. sbielas@umich.edu.

Publikováno v: Cell death & disease [Cell Death Dis] 2024 May 30; Vol. 15 (5), pp. 379. Date of Electronic Publication: 2024 May 30.

TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability Syndrome.

Autor: Werren EA; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, 48109, USA.; Advanced Precision Medicine Laboratory, The Jackson Laboratory for Genomic Medicine, Farmington, CT, 06032, USA., LaForce GR; Department of Genetics and Genome Sciences, Case Western Reserve University School of Medicine, Cleveland, OH, 44106, USA., Srivastava A; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, 48109, USA.; Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, 226014, India., Perillo DR; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, 48109, USA., Li S; Advanced Precision Medicine Laboratory, The Jackson Laboratory for Genomic Medicine, Farmington, CT, 06032, USA., Johnson K; Advanced Precision Medicine Laboratory, The Jackson Laboratory for Genomic Medicine, Farmington, CT, 06032, USA., Baris S; Division of Pediatric Allergy and Immunology, School of Medicine, Marmara University, Istanbul Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, The Isil Berat Barlan Center for Translational Medicine, Istanbul, 34722, Turkey., Berger B; Advanced Precision Medicine Laboratory, The Jackson Laboratory for Genomic Medicine, Farmington, CT, 06032, USA., Regan SL; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, 48109, USA., Pfennig CD; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, 48109, USA., de Munnik S; Department of Human Genetics, Radboud University Medical Centre Nijmegen, Nijmegen, 6524, the Netherlands., Pfundt R; Department of Human Genetics, Radboud University Medical Centre Nijmegen, Nijmegen, 6524, the Netherlands., Hebbar M; Division of Genetic Medicine, Department of Pediatrics, University of Washington, 98195, Seattle, WA, USA., Jimenez-Heredia R; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, 1090, Austria., Karakoc-Aydiner E; Division of Pediatric Allergy and Immunology, School of Medicine, Marmara University, Istanbul Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, The Isil Berat Barlan Center for Translational Medicine, Istanbul, 34722, Turkey., Ozen A; Division of Pediatric Allergy and Immunology, School of Medicine, Marmara University, Istanbul Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, The Isil Berat Barlan Center for Translational Medicine, Istanbul, 34722, Turkey., Dmytrus J; Research Centre for Molecular Medicine of the Austrian Academy of Sciences, Vienna, 1090, Austria., Krolo A; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, 1090, Austria., Corning K; Greenwood Genetic Center, Greenwood, SC, 29646, USA., Prijoles EJ; Greenwood Genetic Center, Greenwood, SC, 29646, USA., Louie RJ; Greenwood Genetic Center, Greenwood, SC, 29646, USA., Lebel RR; Section of Medical Genetics, SUNY Upstate Medical University, Syracuse, NY, 13210, USA., Le TL; Imagine Institute, INSERM U1163, Paris Cité University, Paris, 75015, France., Amiel J; Imagine Institute, INSERM U1163, Paris Cité University, Paris, 75015, France.; Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants Malades, AP-HP, Paris, 75015, France., Gordon CT; Imagine Institute, INSERM U1163, Paris Cité University, Paris, 75015, France., Boztug K; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, 1090, Austria.; Research Centre for Molecular Medicine of the Austrian Academy of Sciences, Vienna, 1090, Austria.; Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, 1090, Austria.; St. Anna Children's Hospital and Children's Cancer Research Institute, Department of Pediatrics, Medical University of Vienna, Vienna, 1090, Austria., Girisha KM; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, 576104, India., Shukla A; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, 576104, India., Bielas SL; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, 48109, USA. sbielas@umich.edu.; Department of Pediatrics, University of Michigan Medical School, Ann Arbor, MI, 48109, USA. sbielas@umich.edu., Schaffer AE; Department of Genetics and Genome Sciences, Case Western Reserve University School of Medicine, Cleveland, OH, 44106, USA. ashleigh.schaffer@case.edu.

Publikováno v: Nature communications [Nat Commun] 2024 Feb 22; Vol. 15 (1), pp. 1640. Date of Electronic Publication: 2024 Feb 22.

De novo variants in GATAD2A in individuals with a neurodevelopmental disorder: GATAD2A-related neurodevelopmental disorder.

Autor: Werren EA; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI 48109, USA., Guxholli A; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI 48109, USA.; Department of Pediatrics, University of Michigan Medical School, Ann Arbor, MI 48109, USA., Jones N; School of Life and Environmental Sciences, University of Sydney, Sydney, NSW 2006, Australia., Wagner M; Institute of Human Genetics, Technical University of Munich, 80333 Munich, Germany., Hannibal I; Institute of Human Genetics, Technical University of Munich, 80333 Munich, Germany., Granadillo JL; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63110, USA., Tyndall AV; Department of Medical Genetics, Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB T2N 4N1, Canada., Moccia A; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI 48109, USA., Kuehl R; Saint Peter's University Hospital, New Brunswick, NJ 08901, USA., Levandoski KM; Saint Peter's University Hospital, New Brunswick, NJ 08901, USA., Day-Salvatore DL; Saint Peter's University Hospital, New Brunswick, NJ 08901, USA., Wheeler M; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA., Chong JX; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.; Brotman Baty Institute, Seattle, WA 98195, USA., Bamshad MJ; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.; Brotman Baty Institute, Seattle, WA 98195, USA., Innes AM; Department of Medical Genetics, Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB T2N 4N1, Canada.; Department of Pediatrics, Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB T2N 4N1, Canada., Pierson TM; Division of Pediatric Neurology, Department of Pediatrics, Guerin Children's, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA.; Department of Neurology, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA.; Center for the Undiagnosed Patient, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA.; Board of Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA., Mackay JP; School of Life and Environmental Sciences, University of Sydney, Sydney, NSW 2006, Australia., Bielas SL; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI 48109, USA.; Department of Pediatrics, University of Michigan Medical School, Ann Arbor, MI 48109, USA., Martin DM; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI 48109, USA.; Department of Pediatrics, University of Michigan Medical School, Ann Arbor, MI 48109, USA.

Publikováno v: HGG advances [HGG Adv] 2023 Apr 20; Vol. 4 (3), pp. 100198. Date of Electronic Publication: 2023 Apr 20 (Print Publication: 2023).

Quantitative assessment of skin, hair, and iris variation in a diverse sample of individuals and associated genetic variation.

Autor: Norton HL; Department of Anthropology, University of Cincinnati, Cincinnati, OH, 45238., Edwards M; Department of Anthropology, University of Toronto Mississauga, Toronto, ON, Canada., Krithika S; Department of Anthropology, University of Toronto Mississauga, Toronto, ON, Canada., Johnson M; Department of Anthropology, University of Toronto Mississauga, Toronto, ON, Canada., Werren EA; Department of Anthropology, University of Cincinnati, Cincinnati, OH, 45238., Parra EJ; Department of Anthropology, University of Toronto Mississauga, Toronto, ON, Canada.

Publikováno v: American journal of physical anthropology [Am J Phys Anthropol] 2016 Aug; Vol. 160 (4), pp. 570-81. Date of Electronic Publication: 2015 Sep 10.