Search Results - "Humberson JB"

Role of CAMK2D in neurodevelopment and associated conditions.

Authors: Rigter PMF de Konink C Dunn MJ et al.

Source: American journal of human genetics [Am J Hum Genet] 2025 Sep 04; Vol. 112 (9), pp. 2247. Date of Electronic Publication: 2025 Aug 11.

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

Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.

Authors: McKnight D Morales A Hatchell KE et al.

Corporate Authors: McKnight D Morales A Hatchell KE et al.

Source: JAMA neurology [JAMA Neurol] 2022 Dec 01; Vol. 79 (12), pp. 1267-1276.

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

Journal Info: Publisher: American Medical Association Country of Publication: United States NLM ID: 101589536 Publication Model: Print Cited Medium: Internet ISSN: 2168-6157 (Electronic) Linking ISSN: 21686149 NLM ISO Abbreviation: JAMA Neurol Subsets: MEDLINE

Role of CAMK2D in neurodevelopment and associated conditions.

Authors: Rigter PMF de Konink C Dunn MJ et al.

Source: American journal of human genetics [Am J Hum Genet] 2024 Feb 01; Vol. 111 (2), pp. 364-382. Date of Electronic Publication: 2024 Jan 24.

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

Expanding the molecular spectrum and the neurological phenotype related to CAMTA1 variants.

Authors: Jacobs EZ Brown K Byler MC et al.

Source: Clinical genetics [Clin Genet] 2021 Feb; Vol. 99 (2), pp. 259-268. Date of Electronic Publication: 2020 Nov 23.

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

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

Gain-of-function mutations in SMAD4 cause a distinctive repertoire of cardiovascular phenotypes in patients with Myhre syndrome.

Authors: Lin AE Michot C Cormier-Daire V et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2016 Oct; Vol. 170 (10), pp. 2617-31. Date of Electronic Publication: 2016 Jun 14.

Publication Type: Case Reports; Journal Article; Review

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

De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy.

Authors: Singh S Gupta A Zech M et al.

Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2020 Aug; Vol. 22 (8), pp. 1413-1417. Date of Electronic Publication: 2020 May 05.

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

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.

Authors: Cogné B Ehresmann S Beauregard-Lacroix E et al.

Corporate Authors: Cogné B Ehresmann S Beauregard-Lacroix E et al.

Source: American journal of human genetics [Am J Hum Genet] 2019 Mar 07; Vol. 104 (3), pp. 530-541. Date of Electronic Publication: 2019 Feb 28.

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

Increased homozygosity in the first Hispanic patient with plantar lipomatosis, unusual facies, and developmental delay (Pierpont syndrome): a case report.

Authors: O'Keefe S Wefuan DT Humberson JB et al.

Source: Journal of medical case reports [J Med Case Rep] 2016 Aug 12; Vol. 10 (1), pp. 223. Date of Electronic Publication: 2016 Aug 12.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101293382 Publication Model: Electronic Cited Medium: Internet ISSN: 1752-1947 (Electronic) Linking ISSN: 17521947 NLM ISO Abbreviation: J Med Case Rep Subsets: MEDLINE