Search Results - "Timms AE"

Single suture craniosynostosis: Identification of rare variants in genes associated with syndromic forms. Am J Med Genet A. 2018 Feb;176(2):290‐300.

Authors: Clarke, CM Fok, VT Gustafson, JA et al.

Source: American Journal of Medical Genetics. Part A; Nov2018, Vol. 176 Issue 11, p2522-2522, 1p

Two New Cases Expand the Phenotypic Spectrum of TUBG1 Missense Variants.

Authors: Urreizti R Vissicchio J Idries M et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2025 Sep; Vol. 197 (9), pp. e64095. Date of Electronic Publication: 2025 Apr 29.

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

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

A Sensitized ENU Mutagenesis Screen for Thrombosis Modifiers Identifies Suppressor Variants in Non-mutagenized Parental Generations Due to Antithrombotic Selective Pressures.

Authors: Brake MA Cleuren AC Torres S et al.

Source: BioRxiv : the preprint server for biology [bioRxiv] 2026 Jan 25. Date of Electronic Publication: 2026 Jan 25.

Publication Type: Journal Article; Preprint

Journal Info: Country of Publication: United States NLM ID: 101680187 Publication Model: Electronic Cited Medium: Internet ISSN: 2692-8205 (Electronic) Linking ISSN: 26928205 NLM ISO Abbreviation: bioRxiv Subsets: PubMed not MEDLINE

Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders.

Authors: Di Donato N Guerrini R Billington CJ et al.

Source: Brain : a journal of neurology [Brain] 2022 Sep 14; Vol. 145 (9), pp. 3274-3287.

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

Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care.

Authors: Pirozzi F Berkseth M Shear R et al.

Source: Brain : a journal of neurology [Brain] 2022 Apr 29; Vol. 145 (3), pp. 925-938.

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

Evidence of disrupted rhombic lip development in the pathogenesis of Dandy-Walker malformation.

Authors: Haldipur P Bernardo S Aldinger KA et al.

Source: Acta neuropathologica [Acta Neuropathol] 2021 Oct; Vol. 142 (4), pp. 761-776. Date of Electronic Publication: 2021 Aug 04.

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

Journal Info: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 0412041 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-0533 (Electronic) Linking ISSN: 00016322 NLM ISO Abbreviation: Acta Neuropathol Subsets: MEDLINE

Haploinsufficiency of SF3B2 causes craniofacial microsomia.

Authors: Timberlake AT Griffin C Heike CL et al.

Corporate Authors: Timberlake AT Griffin C Heike CL et al.

Source: Nature communications [Nat Commun] 2021 Aug 03; Vol. 12 (1), pp. 4680. Date of Electronic Publication: 2021 Aug 03.

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

Journal Info: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

Transcriptome data of temporal and cingulate cortex in the Rett syndrome brain.

Authors: Aldinger KA Timms AE MacDonald JW et al.

Source: Scientific data [Sci Data] 2020 Jun 19; Vol. 7 (1), pp. 192. Date of Electronic Publication: 2020 Jun 19.

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

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101640192 Publication Model: Electronic Cited Medium: Internet ISSN: 2052-4463 (Electronic) Linking ISSN: 20524463 NLM ISO Abbreviation: Sci Data Subsets: MEDLINE

Spatiotemporal expansion of primary progenitor zones in the developing human cerebellum.

Authors: Haldipur P Aldinger KA Bernardo S et al.

Source: Science (New York, N.Y.) [Science] 2019 Oct 25; Vol. 366 (6464), pp. 454-460. Date of Electronic Publication: 2019 Oct 17.

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-Electronic Cited Medium: Internet ISSN: 1095-9203 (Electronic) Linking ISSN: 00368075 NLM ISO Abbreviation: Science Subsets: MEDLINE

Transcriptomic Signatures of Single-Suture Craniosynostosis Phenotypes.

Authors: Lapehn S Gustafson JA Timms AE et al.

Source: International journal of molecular sciences [Int J Mol Sci] 2023 Mar 10; Vol. 24 (6). Date of Electronic Publication: 2023 Mar 10.

Publication Type: Journal Article

Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE

Anti-tumor activity of a T-helper 1 multiantigen vaccine in a murine model of prostate cancer.

Authors: Cecil DL Curtis B Gad E et al.

Source: Scientific reports [Sci Rep] 2022 Aug 10; Vol. 12 (1), pp. 13618. Date of Electronic Publication: 2022 Aug 10.

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

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE

Bi-allelic mutations of CCDC88C are a rare cause of severe congenital hydrocephalus.

Authors: Ruggeri G Timms AE Cheng C et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2018 Mar; Vol. 176 (3), pp. 676-681. Date of Electronic Publication: 2018 Jan 17.

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

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

Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly.

Authors: Alcantara D Timms AE Gripp K et al.

Source: Brain : a journal of neurology [Brain] 2017 Oct 01; Vol. 140 (10), pp. 2610-2622.

Publication Type: Journal Article

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

Machine Learning Prediction of Non-Coding Variant Impact in Human Retinal cis-Regulatory Elements.

Authors: VandenBosch LS Luu K Timms AE et al.

Source: Translational vision science & technology [Transl Vis Sci Technol] 2022 Apr 01; Vol. 11 (4), pp. 16.

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

Journal Info: Publisher: Association for Research in Vision and Ophthalmology Country of Publication: United States NLM ID: 101595919 Publication Model: Print Cited Medium: Internet ISSN: 2164-2591 (Electronic) Linking ISSN: 21642591 NLM ISO Abbreviation: Transl Vis Sci Technol Subsets: MEDLINE

Cell-specific cis-regulatory elements and mechanisms of non-coding genetic disease in human retina and retinal organoids.

Authors: Thomas ED Timms AE Giles S et al.

Source: Developmental cell [Dev Cell] 2022 Mar 28; Vol. 57 (6), pp. 820-836.e6. Date of Electronic Publication: 2022 Mar 17.

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

Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 101120028 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-1551 (Electronic) Linking ISSN: 15345807 NLM ISO Abbreviation: Dev Cell Subsets: MEDLINE

Activated interleukin-7 receptor signaling drives B-cell acute lymphoblastic leukemia in mice.

Authors: Thomas KR Allenspach EJ Camp ND et al.

Source: Leukemia [Leukemia] 2022 Jan; Vol. 36 (1), pp. 42-57. Date of Electronic Publication: 2021 Jun 30.

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

Journal Info: Publisher: Nature Publishing Group, Specialist Journals Country of Publication: England NLM ID: 8704895 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5551 (Electronic) Linking ISSN: 08876924 NLM ISO Abbreviation: Leukemia Subsets: MEDLINE

The Autoimmune Risk R262W Variant of the Adaptor SH2B3 Improves Survival in Sepsis.

Authors: Allenspach EJ Shubin NJ Cerosaletti K et al.

Source: Journal of immunology (Baltimore, Md. : 1950) [J Immunol] 2021 Dec 01; Vol. 207 (11), pp. 2710-2719. Date of Electronic Publication: 2021 Nov 05.

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: 2985117R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1550-6606 (Electronic) Linking ISSN: 00221767 NLM ISO Abbreviation: J Immunol Subsets: MEDLINE

Gene regulatory networks controlling temporal patterning, neurogenesis, and cell-fate specification in mammalian retina.

Authors: Lyu P Hoang T Santiago CP et al.

Source: Cell reports [Cell Rep] 2021 Nov 16; Vol. 37 (7), pp. 109994.

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

Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 101573691 Publication Model: Print Cited Medium: Internet ISSN: 2211-1247 (Electronic) NLM ISO Abbreviation: Cell Rep Subsets: MEDLINE

Spiny mice activate unique transcriptional programs after severe kidney injury regenerating organ function without fibrosis.

Authors: Okamura DM Brewer CM Wakenight P et al.

Source: IScience [iScience] 2021 Nov 03; Vol. 24 (11), pp. 103269. Date of Electronic Publication: 2021 Nov 03 (Print Publication: 2021).

Publication Type: Journal Article

Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 101724038 Publication Model: eCollection Cited Medium: Internet ISSN: 2589-0042 (Electronic) Linking ISSN: 25890042 NLM ISO Abbreviation: iScience Subsets: PubMed not MEDLINE

Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome.

Authors: Weerts MJA Lanko K Guzmán-Vega FJ et al.

Corporate Authors: Weerts MJA Lanko K Guzmán-Vega FJ et al.

Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Nov; Vol. 23 (11), pp. 2122-2137. Date of Electronic Publication: 2021 Aug 03.

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