A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations

Autor: Palmer, Elizabeth E, Kumar, Raman, Gordon, Christopher T, Shaw, Marie, Hubert, Laurence, Carroll, Renee, Rio, Marlène, Murray, Lucinda, Leffler, Melanie, Dudding-Byth, Tracy, Oufadem, Myriam, Lalani, Seema R, Lewis, Andrea M, Xia, Fan, Tam, Allison, Webster, Richard, Brammah, Susan, Filippini, Francesca, Pollard, John, Spies, Judy, Minoche, Andre E, Cowley, Mark J, Risen, Sarah, Powell-Hamilton, Nina N, Tusi, Jessica E, Immken, LaDonna, Nagakura, Honey, Bole-Feysot, Christine, Nitschké, Patrick, Garrigue, Alexandrine, De Saint Basile, Geneviève, Kivuva, Emma, DDD Study, Scott, Richard H, Rendon, Cesar, Munnich, Arnold, Newman, William, Kerr, Bronwyn, Besmond, Claude, Rosenfeld, Jill A, Amiel, Jeanne, Field, Michael, Gecz, Jozef

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::fa77c0f88754e7c068408c5c01d271af

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Diagnostic exome sequencing identifies GLI2 haploinsufficiency and chromosome 20 uniparental disomy in a patient with developmental anomalies.

Autor: Sajan, Samin A., Powis, Zöe, Helbig, Katherine L., Nagakura, Honey, Immken, Ladonna, Tang, Sha, Alcaraz, Wendy A.

Publikováno v: Clinical Case Reports; Jul2018, Vol. 6 Issue 7, p1208-1213, 6p

Microdeletions excluding YWHAEand PAFAH1B1cause a unique leukoencephalopathy: further delineation of the 17p13.3 microdeletion spectrum

Autor: Emrick, Lisa T., Rosenfeld, Jill A., Lalani, Seema R., Jain, Mahim, Desai, Nilesh K., Larson, Austin, Kripps, Kimberly, Vanderver, Adeline, Taft, Ryan J., Bluske, Krista, Perry, Denise, Nagakura, Honey, Immken, LaDonna L., Burrage, Lindsay C., Bacino, Carlos A., Belmont, John W., Lee, Brendan

Publikováno v: Genetics in Medicine; July 2019, Vol. 21 Issue: 7 p1652-1656, 5p

Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features.

Autor: Santiago-Sim T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Miraca Genetics Laboratories, Baylor College of Medicine, Houston, TX 77021, USA., Burrage LC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA., Ebstein F; Charité-Universitätsmedizin Berlin, Institute of Biochemistry, Charité Platz 1/Virchowweg 6, 10117 Berlin, Germany., Tokita MJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Miraca Genetics Laboratories, Baylor College of Medicine, Houston, TX 77021, USA., Miller M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Miraca Genetics Laboratories, Baylor College of Medicine, Houston, TX 77021, USA., Bi W; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Miraca Genetics Laboratories, Baylor College of Medicine, Houston, TX 77021, USA., Braxton AA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Miraca Genetics Laboratories, Baylor College of Medicine, Houston, TX 77021, USA., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Shahrour M; Department of Pediatrics and Genetics, Makassed Hospital and Al-Quds University, Jerusalem 91220, Palestine., Lehmann A; Charité-Universitätsmedizin Berlin, Institute of Biochemistry, Charité Platz 1/Virchowweg 6, 10117 Berlin, Germany., Cogné B; CHU de Nantes, Service de Génétique Médicale, Nantes Cedex 1 44093, France., Küry S; CHU de Nantes, Service de Génétique Médicale, Nantes Cedex 1 44093, France., Besnard T; CHU de Nantes, Service de Génétique Médicale, Nantes Cedex 1 44093, France., Isidor B; CHU de Nantes, Service de Génétique Médicale, Nantes Cedex 1 44093, France; INSERM, UMR-S 957, 1 Rue Gaston Veil, Nantes 44035, France., Bézieau S; CHU de Nantes, Service de Génétique Médicale, Nantes Cedex 1 44093, France., Hazart I; CHU de Nantes, Service de Pédiatrie, Nantes Cedex 1 44093, France., Nagakura H; Specially for Children, Austin, TX 78723, USA., Immken LL; Specially for Children, Austin, TX 78723, USA., Littlejohn RO; 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., Kara B; Department of Pediatrics, Kocaeli University Medical Faculty, Kocaeli 41380, Turkey., Hardies K; Neurogenetics Group, Center of Molecular Neurology, VIB, Antwerp 2610, Belgium; Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp 2610, Belgium., Weckhuysen S; Neurogenetics Group, Center of Molecular Neurology, VIB, Antwerp 2610, Belgium; Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp 2610, Belgium; Division of Neurology, Antwerp University Hospital, Antwerp 2610, Belgium., May P; Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Esch-sur-Alzette 4362, Luxembourg., Lemke JR; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, 04103 Leipzig, Germany., Elpeleg O; Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel., Abu-Libdeh B; Department of Pediatrics and Genetics, Makassed Hospital and Al-Quds University, Jerusalem 91220, Palestine., James KN; Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, Department of Neurosciences, University of California, San Diego, CA 92093, USA., Silhavy JL; Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, Department of Neurosciences, University of California, San Diego, CA 92093, USA., Issa MY; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo 12311, Egypt., Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo 12311, Egypt., Gleeson JG; Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, Department of Neurosciences, University of California, San Diego, CA 92093, USA., Seavitt JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Dickinson ME; 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., Ljungberg MC; The Jan and Dan Duncan Neurological Research Institute, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA., Wells S; Medical Research Council Harwell (Mammalian Genetics Unit and Mary Lyon Centre), Harwell, Oxfordshire OX11 0RD, UK., Johnson SJ; Medical Research Council Harwell (Mammalian Genetics Unit and Mary Lyon Centre), Harwell, Oxfordshire OX11 0RD, UK., Teboul L; Medical Research Council Harwell (Mammalian Genetics Unit and Mary Lyon Centre), Harwell, Oxfordshire OX11 0RD, UK., 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 77021, 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 77021, USA., Kloetzel PM; Charité-Universitätsmedizin Berlin, Institute of Biochemistry, Charité Platz 1/Virchowweg 6, 10117 Berlin, Germany; Berlin Institute of Health, 10117 Berlin, Germany., Heaney JD; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Dan L. Duncan Cancer Center, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address: heaney@bcm.edu., Walkiewicz MA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Miraca Genetics Laboratories, Baylor College of Medicine, Houston, TX 77021, USA. Electronic address: mwalkiew@bcm.edu.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2017 Apr 06; Vol. 100 (4), pp. 676-688. Date of Electronic Publication: 2017 Mar 23.