المؤلفون: Dinulos MBP; Departments of Pediatrics and Pathology, Dartmouth-Hitchcock Medical Center, Lebanon, NH 03576, USA. Electronic address: mbd@hitchcock.org., Vallee SE; Departments of Pediatrics and Pathology, Dartmouth-Hitchcock Medical Center, Lebanon, NH 03576, USA.

المصدر: Clinics in laboratory medicine [Clin Lab Med] 2020 Mar; Vol. 40 (1), pp. 61-67. Date of Electronic Publication: 2020 Jan 07.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Elsevier Health Sciences Division Country of Publication: United States NLM ID: 8100174 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1557-9832 (Electronic) Linking ISSN: 02722712 NLM ISO Abbreviation: Clin Lab Med Subsets: MEDLINE

مواضيع طبية MeSH: Direct-To-Consumer Screening and Testing* , Genetic Testing*, Genetic Counseling ; Genome-Wide Association Study ; Humans ; Physicians ; Polymorphism, Single Nucleotide/genetics

المؤلفون: Jung HS; Dartmouth-Hitchcock Medical Center, Lebanon, NH, USA.; Geisel School of Medicine at Dartmouth, Hanover, NH, USA., Vallee SE; Dartmouth-Hitchcock Medical Center, Lebanon, NH, USA., Dinulos MB; Dartmouth-Hitchcock Medical Center, Lebanon, NH, USA.; Geisel School of Medicine at Dartmouth, Hanover, NH, USA., Tsongalis GJ; Dartmouth-Hitchcock Medical Center, Lebanon, NH, USA.; Geisel School of Medicine at Dartmouth, Hanover, NH, USA.; Norris Cotton Cancer Center, Lebanon, NH, USA., Lefferts JA; Dartmouth-Hitchcock Medical Center, Lebanon, NH, USA. Joel.A.Lefferts@hitchcock.org.; Geisel School of Medicine at Dartmouth, Hanover, NH, USA. Joel.A.Lefferts@hitchcock.org.

المصدر: Journal of human genetics [J Hum Genet] 2018 Dec; Vol. 63 (12), pp. 1231-1239. Date of Electronic Publication: 2018 Sep 19.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1435-232X (Electronic) Linking ISSN: 14345161 NLM ISO Abbreviation: J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Base Sequence* , Sequence Deletion*, Abnormalities, Multiple/*genetics , Chromosomes, Human, Pair 14/*genetics, Abnormalities, Multiple/pathology ; Female ; Humans ; Syndrome

المؤلفون: You J; Predoctoral Training Program in Human Genetics, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA., Sobreira NL; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA., Gable DL; Predoctoral Training Program in Human Genetics, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Medical Scientist Training Program, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Department of Oncology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA., Jurgens J; Predoctoral Training Program in Human Genetics, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA., Grange DK; Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63110, USA., Belnap N; Translational Genomics Research Institute (TGen) Center for Rare Childhood Disorders, Phoenix, AZ 85004, USA; Neurogenomics Division, Translational Genomics Research Institute (TGen), Phoenix, AZ 85004, USA., Siniard A; Translational Genomics Research Institute (TGen) Center for Rare Childhood Disorders, Phoenix, AZ 85004, USA; Neurogenomics Division, Translational Genomics Research Institute (TGen), Phoenix, AZ 85004, USA., Szelinger S; Translational Genomics Research Institute (TGen) Center for Rare Childhood Disorders, Phoenix, AZ 85004, USA; Neurogenomics Division, Translational Genomics Research Institute (TGen), Phoenix, AZ 85004, USA., Schrauwen I; Translational Genomics Research Institute (TGen) Center for Rare Childhood Disorders, Phoenix, AZ 85004, USA; Neurogenomics Division, Translational Genomics Research Institute (TGen), Phoenix, AZ 85004, USA., Richholt RF; Translational Genomics Research Institute (TGen) Center for Rare Childhood Disorders, Phoenix, AZ 85004, USA; Neurogenomics Division, Translational Genomics Research Institute (TGen), Phoenix, AZ 85004, USA., Vallee SE; Dartmouth-Hitchcock Medical Center, 1 Medical Center Dr., Lebanon, NH 03756, USA., Dinulos MBP; Dartmouth-Hitchcock Medical Center, 1 Medical Center Dr., Lebanon, NH 03756, USA; Pediatrics and Pathology Department, Geisel School of Medicine at Dartmouth, 1 Medical Center Dr., Lebanon, NH 03756, USA., Valle D; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA. Electronic address: dvalle@jhmi.edu., Armanios M; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Department of Oncology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA., Hoover-Fong J; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Greenberg Center for Skeletal Dysplasias, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.

المصدر: American journal of human genetics [Am J Hum Genet] 2016 May 05; Vol. 98 (5), pp. 909-918. Date of Electronic Publication: 2016 Apr 28.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Intellectual Disability/*etiology , Molecular Chaperones/*genetics , Protein Serine-Threonine Kinases/*genetics , Telomere-Binding Proteins/*genetics, Adolescent ; Carrier Proteins/genetics ; Child ; Female ; Humans ; Intracellular Signaling Peptides and Proteins ; Male ; Pedigree ; Phosphatidylinositol 3-Kinases/genetics

المؤلفون: Dabell MP; Signature Genomic Laboratories, PerkinElmer, Inc., Spokane, WA, USA., Rosenfeld JA, Bader P, Escobar LF, El-Khechen D, Vallee SE, Dinulos MB, Curry C, Fisher J, Tervo R, Hannibal MC, Siefkas K, Wyatt PR, Hughes L, Smith R, Ellingwood S, Lacassie Y, Stroud T, Farrell SA, Sanchez-Lara PA, Randolph LM, Niyazov D, Stevens CA, Schoonveld C, Skidmore D, MacKay S, Miles JH, Moodley M, Huillet A, Neill NJ, Ellison JW, Ballif BC, Shaffer LG

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2013 Apr; Vol. 161A (4), pp. 717-31. Date of Electronic Publication: 2013 Mar 12.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

مواضيع طبية MeSH: Gene Deletion*, Cell Adhesion Molecules, Neuronal/*genetics , Nerve Tissue Proteins/*genetics, Abnormalities, Multiple/diagnosis ; Abnormalities, Multiple/genetics ; Adolescent ; Adult ; Autistic Disorder/genetics ; Calcium-Binding Proteins ; Child ; Child, Preschool ; Comparative Genomic Hybridization ; Developmental Disabilities/genetics ; Exons ; Facies ; Female ; Gene-Environment Interaction ; Genome-Wide Association Study ; Humans ; Infant ; Intellectual Disability/genetics ; Male ; Middle Aged ; Neural Cell Adhesion Molecules ; Penetrance ; Phenotype ; Schizophrenia/genetics ; Young Adult

المؤلفون: Lamb AN; Signature Genomic Laboratories, PerkinElmer, Inc., Spokane, Washington 99207, USA., Rosenfeld JA, Neill NJ, Talkowski ME, Blumenthal I, Girirajan S, Keelean-Fuller D, Fan Z, Pouncey J, Stevens C, Mackay-Loder L, Terespolsky D, Bader PI, Rosenbaum K, Vallee SE, Moeschler JB, Ladda R, Sell S, Martin J, Ryan S, Jones MC, Moran R, Shealy A, Madan-Khetarpal S, McConnell J, Surti U, Delahaye A, Heron-Longe B, Pipiras E, Benzacken B, Passemard S, Verloes A, Isidor B, Le Caignec C, Glew GM, Opheim KE, Descartes M, Eichler EE, Morton CC, Gusella JF, Schultz RA, Ballif BC, Shaffer LG

المصدر: Human mutation [Hum Mutat] 2012 Apr; Vol. 33 (4), pp. 728-40.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

مواضيع طبية MeSH: Haploinsufficiency*, Body Dysmorphic Disorders/*genetics , Developmental Disabilities/*genetics , Language Development Disorders/*genetics , Mental Disorders/*genetics , SOXD Transcription Factors/*genetics, Adolescent ; Adult ; Case-Control Studies ; Child ; Child, Preschool ; Chromosomes, Human, Pair 12 ; Female ; Humans ; Male

المؤلفون: Stankiewicz P; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA. pawels@bcm.edu, Kulkarni S, Dharmadhikari AV, Sampath S, Bhatt SS, Shaikh TH, Xia Z, Pursley AN, Cooper ML, Shinawi M, Paciorkowski AR, Grange DK, Noetzel MJ, Saunders S, Simons P, Summar M, Lee B, Scaglia F, Fellmann F, Martinet D, Beckmann JS, Asamoah A, Platky K, Sparks S, Martin AS, Madan-Khetarpal S, Hoover J, Medne L, Bonnemann CG, Moeschler JB, Vallee SE, Parikh S, Irwin P, Dalzell VP, Smith WE, Banks VC, Flannery DB, Lovell CM, Bellus GA, Golden-Grant K, Gorski JL, Kussmann JL, McGregor TL, Hamid R, Pfotenhauer J, Ballif BC, Shaw CA, Kang SH, Bacino CA, Patel A, Rosenfeld JA, Cheung SW, Shaffer LG

المصدر: Human mutation [Hum Mutat] 2012 Jan; Vol. 33 (1), pp. 165-79. Date of Electronic Publication: 2011 Nov 02.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

مواضيع طبية MeSH: Chromosome Aberrations* , Sequence Deletion*, Abnormalities, Multiple/*genetics , Nerve Growth Factors/*genetics , Segmental Duplications, Genomic/*genetics , Vesicular Acetylcholine Transport Proteins/*genetics, Child ; Child, Preschool ; Chromosome Mapping ; Chromosomes, Human, Pair 10 ; DNA Copy Number Variations ; Developmental Disabilities/complications ; Developmental Disabilities/genetics ; Female ; Genetic Variation ; Homologous Recombination ; Humans ; In Situ Hybridization, Fluorescence ; Infant ; Intellectual Disability/complications ; Intellectual Disability/genetics ; Male ; Oligonucleotide Array Sequence Analysis ; Penetrance