换一批
换一批Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype.
第一作者：
Susan M,Hiatt
第一单位：
HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA. Electronic address: shiatt@hudsonalpha.org.
作者：
Susan M,Hiatt [1]
;
Slavica,Trajkova [2]
;
Matteo Rossi,Sebastiano [3]
;
E Christopher,Partridge [4]
;
Fatima E,Abidi [5]
;
Ashlyn,Anderson [4]
;
Muhammad,Ansar [6]
;
Stylianos E,Antonarakis [7]
;
Azadeh,Azadi [8]
;
Ruxandra,Bachmann-Gagescu [9]
;
Andrea,Bartuli [10]
;
Caroline,Benech [11]
;
Jennifer L,Berkowitz [12]
;
Michael J,Betti [13]
;
Alfredo,Brusco [2]
;
Ashley,Cannon [14]
;
Giulia,Caron [3]
;
Yanmin,Chen [12]
;
Meagan E,Cochran [4]
;
Tanner F,Coleman [4]
;
Molly M,Crenshaw [15]
;
Laurence,Cuisset [16]
;
Cynthia J,Curry [17]
;
Hossein,Darvish [18]
;
Serwet,Demirdas [19]
;
Maria,Descartes [14]
;
Jessica,Douglas [20]
;
David A,Dyment [21]
;
Houda Zghal,Elloumi [12]
;
Giuseppe,Ermondi [3]
;
Marie,Faoucher [22]
;
Emily G,Farrow [23]
;
Stephanie A,Felker [4]
;
Heather,Fisher [24]
;
Anna C E,Hurst [14]
;
Pascal,Joset [25]
;
Melissa A,Kelly [26]
;
Stanislav,Kmoch [27]
;
Benjamin R,Leadem [12]
;
Michael J,Lyons [5]
;
Marina,Macchiaiolo [10]
;
Martin,Magner [28]
;
Giorgia,Mandrile [29]
;
Francesca,Mattioli [30]
;
Megan,McEown [4]
;
Sarah K,Meadows [4]
;
Livija,Medne [31]
;
Naomi J L,Meeks [32]
;
Sarah,Montgomery [33]
;
Melanie P,Napier [12]
;
Marvin,Natowicz [34]
;
Kimberly M,Newberry [4]
;
Marcello,Niceta [10]
;
Lenka,Noskova [27]
;
Catherine B,Nowak [20]
;
Amanda G,Noyes [12]
;
Matthew,Osmond [21]
;
Eloise J,Prijoles [5]
;
Jada,Pugh [4]
;
Verdiana,Pullano [2]
;
Chloé,Quélin [35]
;
Simin,Rahimi-Aliabadi [36]
;
Anita,Rauch [37]
;
Sylvia,Redon [38]
;
Alexandre,Reymond [30]
;
Caitlin R,Schwager [39]
;
Elizabeth A,Sellars [40]
;
Angela E,Scheuerle [41]
;
Elena,Shukarova-Angelovska [42]
;
Cara,Skraban [31]
;
Elliot,Stolerman [5]
;
Bonnie R,Sullivan [39]
;
Marco,Tartaglia [10]
;
Isabelle,Thiffault [23]
;
Kevin,Uguen [38]
;
Luis A,Umaña [41]
;
Yolande,van Bever [19]
;
Saskia N,van der Crabben [43]
;
Marjon A,van Slegtenhorst [19]
;
Quinten,Waisfisz [44]
;
Camerun,Washington [5]
;
Lance H,Rodan [45]
;
Richard M,Myers [4]
;
Gregory M,Cooper [46]
作者单位：
HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA. Electronic address: shiatt@hudsonalpha.org.
[1]
Department of Medical Sciences, University of Torino, 10126 Torino, Italy.
[2]
Molecular Biotechnology and Health Sciences Department, Università degli Studi di Torino, via Quarello 15, 10135 Torino, Italy.
[3]
HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.
[4]
Greenwood Genetic Center, Greenwood, SC 29646, USA.
[5]
Department of Ophthalmology, University of Lausanne, Jules Gonin Eye Hospital, Fondation Asile des Aveugles, Lausanne, Switzerland; Advanced Molecular Genetics and Genomics Disease Research and Treatment Centre, Dow University of Health Sciences, Karachi, Pakistan.
[6]
Department of Genetic Medicine and Development, University of Geneva, Geneva, Switzerland.
[7]
Obestetrics and Gynecology Department, Golestan University of Medical Sciences, Gorgan, Iran.
[8]
Institute of Medical Genetics, University of Zurich, Schlieren 8952, Switzerland.
[9]
Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
[10]
Univ Brest, Inserm, EFS, UMR 1078, GGB, 29200 Brest, France.
[11]
GeneDx, LLC, Gaithersburg, MD 20877, USA.
[12]
Vanderbilt University Medical Center, Nashville, TN 37232, USA.
[13]
Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA.
[14]
Pediatrics and Medical Genetics, University of Colorado, Aurora CO, USA.
[15]
Service de Médecine Génomique des Maladies de Système et d'Organe, Département Médico-Universitaire BioPhyGen, Hôpital Cochin, APHP, Université Paris Cité, Paris, France.
[16]
Genetic Medicine, UCSF/Fresno, Fresno, CA 93701, USA.
[17]
Neuroscience Research Center, Faculty of Medicine, Golestan University of Medical Sciences, Gorgan, Iran; Nikagene Genetic Diagnostic Laboratory, Gorgan, Golestan, Iran.
[18]
Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands.
[19]
Boston Children's Hospital, Boston, MA, USA.
[20]
Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada.
[21]
Service de Génétique Moléculaire et Génomique, CHU, Rennes 35033, France; Univ Rennes, CNRS, IGDR, UMR 6290, Rennes 35000, France.
[22]
Children's Mercy Kansas City, Center for Pediatric Genomic Medicine, Kansas City, KS, USA.
[23]
Children's Medical Center, Dallas, TX, USA.
[24]
Medical Genetics, Institute of Medical Genetics and Pathology, University Hospital Basel, Basel, Switzerland.
[25]
HudsonAlpha Clinical Services Lab, LLC, Huntsville, AL 35806, USA.
[26]
Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, 1st Faculty of Medicine, Charles University in Prague, Prague, Czech Republic.
[27]
Department of Pediatrics and Inherited Metabolic Disorders, General University Hospital and First faculty of Medicine, Charles University, Prague, Czech Republic.
[28]
Medical Genetics Unit and Thalassemia Center, San Luigi University Hospital, University of Torino, Orbassano, Italy.
[29]
Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland.
[30]
Childrens Hospital of Philadelphia, Philadelphia, PA, USA.
[31]
Section of Genetics & Metabolism, Department of Pediatrics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.
[32]
Division of Genetics and Metabolism, Children's Health, Dallas, TX, USA.
[33]
Pathology & Laboratory Medicine, Genomic Medicine, Neurological and Pediatrics Institutes, Cleveland Clinic, Cleveland, OH, USA.
[34]
Service de Génétique Clinique, Centre de Référence Maladies Rares CLAD-Ouest, CHU Hôpital Sud, Rennes, France.
[35]
Department of Pharmacology and Toxicology, College of Pharmacy, University of Utah, Salt Lake City, UT 84112, USA.
[36]
Institute of Medical Genetics, University of Zurich, Schlieren 8952, Switzerland; University Children's Hospital Zurich, University of Zurich, Zurich 8032, Switzerland.
[37]
Univ Brest, Inserm, EFS, UMR 1078, GGB, 29200 Brest, France; Service de Génétique Médicale et Biologie de la Reproduction, CHU de Brest, Brest, France; Centre de Référence Déficiences Intellectuelles de causes rares, Brest, France.
[38]
Division of Genetics, Children's Mercy Kansas City, Kansas City, MO, USA.
[39]
Genetics and Metabolism, Arkansas Children's Hospital, Little Rock, AR 72202, USA.
[40]
Department of Pediatrics, Division of Genetics and Metabolism, University of Texas Southwestern Medical Center, Dallas, TX, USA.
[41]
Department of Endocrinology and Genetics, University Clinic for Children's Diseases, Medical Faculty, University Sv. Kiril i Metodij, Skopje, Republic of Macedonia.
[42]
Amsterdam University Medical Centers, Department of Clinical Genetics, Amsterdam, the Netherlands.
[43]
Department of Human Genetics, Amsterdam University Medical Centers, VU University Amsterdam, Amsterdam, The Netherlands; Amsterdam Neuroscience, Amsterdam, The Netherlands.
[44]
Boston Children's Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA 02115, USA.
[45]
HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA. Electronic address: gcooper@hudsonalpha.org.
[46]
主题词
人类(Humans);男(雄)性(Male);女(雌)性(Female);表型(Phenotype);基因表达调控(Gene Expression Regulation);面部(Face);神经系统畸形(Nervous System Malformations);核蛋白质类(Nuclear Proteins);组蛋白脱甲基酶类(Histone Demethylases)
DOI
10.1016/j.ajhg.2022.12.007
PMID
36586412
发布时间
2024-07-16
- 浏览4
American journal of human genetics
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