Search Results - "Everman DB"

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.

Authors: Rots D Jakub TE Keung C et al.

Corporate Authors: Rots D Jakub TE Keung C et al.

Source: American journal of human genetics [Am J Hum Genet] 2025 Nov 06; Vol. 112 (11), pp. 2814. Date of Electronic Publication: 2025 Oct 18.

Publication Type: Published Erratum

Journal Info: 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; In Process

A clinical and genotype-phenotype analysis of MACF1 variants.

Authors: Dekker J Schot R Aldinger KA et al.

Source: American journal of human genetics [Am J Hum Genet] 2025 Oct 02; Vol. 112 (10), pp. 2363-2380. Date of Electronic Publication: 2025 Sep 08.

Publication Type: Journal Article; Research Support, N.I.H., Extramural

Journal Info: 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

Enabling the clinical application of artificial intelligence in genomics: a perspective of the AMIA Genomics and Translational Bioinformatics Workgroup.

Authors: Walton NA Nagarajan R Wang C et al.

Source: Journal of the American Medical Informatics Association : JAMIA [J Am Med Inform Assoc] 2024 Jan 18; Vol. 31 (2), pp. 536-541.

Publication Type: Journal Article; Research Support, N.I.H., Extramural

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 9430800 Publication Model: Print Cited Medium: Internet ISSN: 1527-974X (Electronic) Linking ISSN: 10675027 NLM ISO Abbreviation: J Am Med Inform Assoc Subsets: MEDLINE

Clinical and functional characterization of germline PIK3CA variants in patients with PIK3CA-related overgrowth spectrum disorders.

Authors: Cooley Coleman JA Gass JM Srikanth S et al.

Source: Human molecular genetics [Hum Mol Genet] 2023 Apr 20; Vol. 32 (9), pp. 1457-1465.

Publication Type: Journal Article

Journal Info: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE

Large Chromosome 2p Duplication-Associated Mechanisms and Clinical Presentations.

Authors: Fang X Hilton B Clarkson K et al.

Source: Cytogenetic and genome research [Cytogenet Genome Res] 2023; Vol. 163 (1-2), pp. 14-23. Date of Electronic Publication: 2023 Jul 27.

Publication Type: Journal Article

Journal Info: Publisher: S. Karger Country of Publication: Switzerland NLM ID: 101142708 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1424-859X (Electronic) Linking ISSN: 14248581 NLM ISO Abbreviation: Cytogenet Genome Res Subsets: MEDLINE

Mosaicism of common pathogenic MECP2 variants identified in two males with a clinical diagnosis of Rett syndrome.

Authors: Cooley Coleman JA Fee T Bend R et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2022 Oct; Vol. 188 (10), pp. 2988-2998. Date of Electronic Publication: 2022 Aug 04.

Publication Type: Journal Article

Journal Info: 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

SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance.

Authors: Cordovado A Schaettin M Jeanne M et al.

Source: Human molecular genetics [Hum Mol Genet] 2022 Sep 29; Vol. 31 (19), pp. 3325-3340.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE

BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder.

Authors: Scott TM Guo H Eichler EE et al.

Source: Human mutation [Hum Mutat] 2020 May; Vol. 41 (5), pp. 921-925. Date of Electronic Publication: 2020 Feb 07.

Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: 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

Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size.

Authors: Le Duc D Giulivi C Hiatt SM et al.

Source: Brain : a journal of neurology [Brain] 2019 Sep 01; Vol. 142 (9), pp. 2617-2630.

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

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.

Authors: Rots D Jakub TE Keung C et al.

Corporate Authors: Rots D Jakub TE Keung C et al.

Source: American journal of human genetics [Am J Hum Genet] 2023 Jun 01; Vol. 110 (6), pp. 963-978. Date of Electronic Publication: 2023 May 16.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: 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

DNA methylation episignature for Witteveen-Kolk syndrome due to SIN3A haploinsufficiency.

Authors: Coenen-van der Spek J Relator R Kerkhof J et al.

Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2023 Jan; Vol. 25 (1), pp. 63-75. Date of Electronic Publication: 2022 Nov 18.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

A neurodevelopmental disorder caused by mutations in the VPS51 subunit of the GARP and EARP complexes.

Authors: Gershlick DC Ishida M Jones JR et al.

Source: Human molecular genetics [Hum Mol Genet] 2019 May 01; Vol. 28 (9), pp. 1548-1560.

Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE

RIT1 oncoproteins escape LZTR1-mediated proteolysis.

Authors: Castel P Cheng A Cuevas-Navarro A et al.

Source: Science (New York, N.Y.) [Science] 2019 Mar 15; Vol. 363 (6432), pp. 1226-1230.

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

Journal Info: Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 0404511 Publication Model: Print Cited Medium: Internet ISSN: 1095-9203 (Electronic) Linking ISSN: 00368075 NLM ISO Abbreviation: Science

The intellectual disability-associated CAMK2G p.Arg292Pro mutation acts as a pathogenic gain-of-function.

Authors: Proietti Onori M Koopal B Everman DB et al.

Source: Human mutation [Hum Mutat] 2018 Dec; Vol. 39 (12), pp. 2008-2024. Date of Electronic Publication: 2018 Sep 19.

Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: 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

Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome.

Authors: Zarate YA Smith-Hicks CL Greene C et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2018 Apr; Vol. 176 (4), pp. 925-935. Date of Electronic Publication: 2018 Feb 13.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: 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

Genotype and phenotype in 12 additional individuals with SATB2-associated syndrome.

Authors: Zarate YA Kalsner L Basinger A et al.

Source: Clinical genetics [Clin Genet] 2017 Oct; Vol. 92 (4), pp. 423-429. Date of Electronic Publication: 2017 Mar 07.

Publication Type: Journal Article

Journal Info: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

Structural model of human PORCN illuminates disease-associated variants and drug-binding sites.

Authors: Yu J Liao PJ Xu W et al.

Source: Journal of cell science [J Cell Sci] 2021 Dec 15; Vol. 134 (24). Date of Electronic Publication: 2021 Dec 20.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Company of Biologists Country of Publication: England NLM ID: 0052457 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1477-9137 (Electronic) Linking ISSN: 00219533 NLM ISO Abbreviation: J Cell Sci Subsets: MEDLINE

Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia.

Authors: Zambonin JL Bellomo A Ben-Pazi H et al.

Corporate Authors: Zambonin JL Bellomo A Ben-Pazi H et al.

Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2017 Jun 28; Vol. 12 (1), pp. 121. Date of Electronic Publication: 2017 Jun 28.

Publication Type: Journal Article; Review; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

Whole exome sequencing reveals de novo pathogenic variants in KAT6A as a cause of a neurodevelopmental disorder.

Authors: Millan F Cho MT Retterer K et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2016 Jul; Vol. 170 (7), pp. 1791-8. Date of Electronic Publication: 2016 May 02.

Publication Type: Journal Article

Journal Info: 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

DLG4-related synaptopathy: a new rare brain disorder.

Authors: Rodríguez-Palmero A Boerrigter MM Gómez-Andrés D et al.

Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 May; Vol. 23 (5), pp. 888-899. Date of Electronic Publication: 2021 Feb 17.

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

Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE