Autor: "Morton, Cynthia C." - OpacWWW

Skocz do pozycji: 1.

Tytuł:: A cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome.
Autorzy:: Ben-Mahmoud A; Neurological Disorders Research Center, Qatar Biomedical Research Institute, Hamad Bin Khalifa University, Doha, Qatar.
Kishikawa S; Gene Engineering Division, RIKEN BioResource Research Center, Tsukuba, Japan.
Gupta V; Neurological Disorders Research Center, Qatar Biomedical Research Institute, Hamad Bin Khalifa University, Doha, Qatar.
Leach NT; Integrated Genetics, Laboratory Corporation of America Holdings, 3400 Computer Drive, Westborough, MA, 01581, USA.
Shen Y; Division of Genetics and Genomics at Boston Children's Hospital, Harvard Medical School, Boston, MA, 02114, USA.
Moldovan O; Medical Genetics Service, Pediatric Department, Hospital Santa Maria, Centro Hospitalar Universitário Lisboa Norte, Lisbon, Portugal.
Goel H; Hunter Genetics, Waratah, NSW, 2298, Australia.; University of Newcastle, Callaghan, NSW, 2308, Australia.
Hopper B; Forster Genetics-Hunter New England Local Health District, Forster, NSW, 2428, Australia.
Ranguin K; Department of Genetics, Reference Center for Rare Diseases of Developmental anomalies and polymalformative syndrome, CHU de Caen Normandie, Caen, France.
Gruchy N; Department of Genetics, Reference Center for Rare Diseases of Developmental anomalies and polymalformative syndrome, CHU de Caen Normandie, Caen, France.
Maas SM; Department of Human Genetics, Amsterdam University Medical Center, Amsterdam, the Netherlands.; Reproduction and Development Research Institute, University of Amsterdam, Amsterdam, the Netherlands.
Lacassie Y; Division of Genetics, Department of Pediatrics, Louisiana State University, New Orleans, LA, 70118, USA.
Kim SH; Molecular and Clinical Sciences Research Institute, St. George's, University of London, London, UK.
Kim WY; Department of Biological Sciences, Kent State University, Kent, OH, 44242, USA.
Quade BJ; Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, 02115, USA.
Morton CC; Departments of Obstetrics and Gynecology and of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, 02115, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA.; Manchester Centre for Audiology and Deafness, School of Health Sciences, University of Manchester, Manchester, UK.
Kim CH; Department of Biology, Chungnam National University, Daejeon, 34134, Korea.
Layman LC; Section of Reproductive Endocrinology, Infertility and Genetics, Department of Obstetrics and Gynecology, Augusta University, Augusta, GA, USA.; Department of Neuroscience and Regenerative Medicine, Augusta University, Augusta, GA, USA.
Kim HG; Neurological Disorders Research Center, Qatar Biomedical Research Institute, Hamad Bin Khalifa University, Doha, Qatar. .; College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar. .; Pokaż więcej
Źródło:: Scientific reports [Sci Rep] 2023 Aug 10; Vol. 13 (1), pp. 12984. Date of Electronic Publication: 2023 Aug 10.
Typ publikacji:: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:: Intellectual Disability*/genetics
Kallmann Syndrome*/genetics
Humans ; Carrier Proteins/genetics ; Comparative Genomic Hybridization ; DNA Copy Number Variations ; Membrane Proteins/genetics ; Tetraspanins/genetics ; Translocation, Genetic

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Skocz do pozycji: 2.

Tytuł:: Experience of Low-Pass Whole-Genome Sequencing-Based Copy Number Variant Analysis: A Survey of Chinese Tertiary Hospitals.
Autorzy:: Zheng Y; Prenatal Genetic Diagnosis Centre, Department of Obstetrics & Gynecology, Prince of Wales Hospital, The Chinese University of Hong Kong, Hong Kong, China.
Zhu B; Department of Genetics Medicine, First People's Hospital of Yunnan Province, Kunming 650021, China.
Tan J; Reproductive Medicine Centre, Shengjing Hospital of China Medical University, Shenyang 110055, China.
Guan Y; Reproductive Medicine Centre, Third Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China.
The Chinese Genomic Structural Variants Consortium
Morton CC; Department of Obstetrics and Gynecology and Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA.; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Manchester Centre for Audiology and Deafness (ManCAD), School of Health Sciences, University of Manchester, Manchester M13 9PL, UK.
Lu G; Genetics Centre, Reproductive & Genetic Hospital of CITIC-Xiangya, Changsha 410008, China.; Pokaż więcej
Źródło:: Diagnostics (Basel, Switzerland) [Diagnostics (Basel)] 2022 Apr 27; Vol. 12 (5). Date of Electronic Publication: 2022 Apr 27.
Typ publikacji:: Journal Article

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Skocz do pozycji: 3.

Tytuł:: Tools for standardized data collection: Speech, Language, and Hearing measurement protocols in the PhenX Toolkit.
Autorzy:: Morton CC; Brigham and Women's Hospital, Harvard Medical School, Broad Institute of MIT and Harvard, University of Manchester, Manchester, UK.
Marazita ML; University of Pittsburgh, Pittsburgh, Pennsylvania, USA.
Peter B; Arizona State University, Phoenix, Arizona, USA.
Rice ML; University of Kansas, Lawrence, Kansas, USA.
Kraft SJ; Wayne State University, Detroit, Michigan, USA.
Barkmeier-Kraemer J; University of Utah, Salt Lake City, Utah, USA.
Balaban C; University of Pittsburgh, Pittsburgh, Pennsylvania, USA.
Phillips M; RTI International, Research Triangle Park, North Carolina, USA.
Schoden J; RTI International, Research Triangle Park, North Carolina, USA.
Maiese D; RTI International, Research Triangle Park, North Carolina, USA.
Hendershot T; RTI International, Research Triangle Park, North Carolina, USA.
Hamilton CM; RTI International, Research Triangle Park, North Carolina, USA.; Pokaż więcej
Źródło:: Annals of human genetics [Ann Hum Genet] 2022 Jan; Vol. 86 (1), pp. 45-51. Date of Electronic Publication: 2021 Sep 28.
Typ publikacji:: Journal Article; Research Support, N.I.H., Extramural; Review
MeSH Terms:: Research Design*
Speech*
Hearing ; Humans ; Phenotype