Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities.

Autor: Scala M; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, University of Genoa, Genoa, Italy; Medical Genetics Unit, IRCCS Giannina Gaslini Institute, Genoa, Italy., Khan K; Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL., Beneteau C; CHU Nantes, Department of Medical Genetics, CHU Nantes, 9 quai Moncousu, Nantes, France; CHU Nantes, UF of Fœtopathology and Genetics, Nantes, France; CHU de Bordeaux, Service de Génétique Médicale, Bordeaux, France., Fox RG; Department of Human Genetics, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA., von Hardenberg S; Department of Human Genetics, Hannover Medical School, Hannover, Germany., Khan A; Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL., Joubert M; CHU Nantes, UF of Fœtopathology and Genetics, Nantes, France; CHU Nantes, Department of Anatomical Pathology, Nantes, France., Fievet L; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC., Musquer M; CHU Nantes, UF of Fœtopathology and Genetics, Nantes, France; CHU Nantes, Department of Anatomical Pathology, Nantes, France., Le Vaillant C; CHU Nantes, Department of Obstetrics and Gynecology, Nantes, France., Holsclaw JK; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC., Lim D; Department of Clinical Genetics, Birmingham Women's and Children's NHS Foundation Trust and Birmingham Health Partners, Birmingham, United Kingdom; Department of Medicine, University of Birmingham, Birmingham, United Kingdom., Berking AC; Department of Human Genetics, Hannover Medical School, Hannover, Germany., Accogli A; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy., Giacomini T; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy; Child Neuropsychiatry Unit, IRCCS G. Gaslini Institute, Genoa, Italy., Nobili L; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy; Child Neuropsychiatry Unit, IRCCS G. Gaslini Institute, Genoa, Italy., Striano P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, University of Genoa, Genoa, Italy., Zara F; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy; Medical Genetics Unit, IRCCS Giannina Gaslini Institute, Genoa, Italy., Torella A; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli,' Naples, Italy; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy., Nigro V; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli,' Naples, Italy; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy., Cogné B; CHU Nantes, Department of Medical Genetics, CHU Nantes, 9 quai Moncousu, Nantes, France; Nantes Université, CHU de Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France., Salick MR; Insitro, South San Francisco, CA., Kaykas A; Insitro, South San Francisco, CA., Eggan K; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA., Capra V; Medical Genetics Unit, IRCCS Giannina Gaslini Institute, Genoa, Italy., Bézieau S; CHU Nantes, Department of Medical Genetics, CHU Nantes, 9 quai Moncousu, Nantes, France; Nantes Université, CHU de Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France., Davis EE; Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL; Department of Pediatrics and Department of Cell and Developmental Biology, Feinberg School of Medicine, Northwestern University, Chicago, IL. Electronic address: eridavis@luriechildrens.org., Wells MF; Department of Human Genetics, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA; Molecular Biology Institute, University of California Los Angeles, Los Angeles, CA. Electronic address: mfwells@mednet.ucla.edu.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Apr; Vol. 26 (4), pp. 101057. Date of Electronic Publication: 2023 Dec 27.

Sources and structures of mitotic crossovers that arise when BLM helicase is absent in Drosophila.

Autor: LaFave MC; Curriculum in Genetics and Molecular Biology, University of North Carolina, Chapel Hill, North Carolina 27599., Andersen SL, Stoffregen EP, Holsclaw JK, Kohl KP, Overton LJ, Sekelsky J

Publikováno v: Genetics [Genetics] 2014 Jan; Vol. 196 (1), pp. 107-18. Date of Electronic Publication: 2013 Oct 30.