Search Results - "Pipko, Neta"

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  1. 1

    Clinical applications of and molecular insights from RNA sequencing in a rare disease cohort.

    Authors: Stark, Jamie C. Pipko, Neta Liang, Yijing et al.

    Source: Genome Medicine. 7/1/2025, Vol. 17 Issue 1, p1-24. 24p.

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  2. 2

    Genome sequencing reveals novel IKBKG structural variants associated with incontinentia pigmenti.

    Authors: Pipko, Neta Oh, Rachel Youjin Kaplan, Aiyana et al.

    Source: British Journal of Dermatology. May2025, Vol. 192 Issue 5, p933-935. 3p.

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  3. 3

    Multiplatform curation in the development of ACMG/AMP specifications for Von Hippel-Lindau (VHL) disease.

    Authors: Ritter DI Badduke C Doonanco K et al.

    Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2026 May 01; Vol. 28 (8), pp. 102589. Date of Electronic Publication: 2026 May 01.

    Publication Type: Journal Article

    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

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  4. 4

    Diagnostic Yield of Comprehensive Reanalysis After Nondiagnostic Short-Read Genome Sequencing in Infants With Unexplained Epilepsy.

    Authors: Nguyen JNH Lachgar-Ruiz M Higginbotham EJ et al.

    Corporate Authors: Nguyen JNH Lachgar-Ruiz M Higginbotham EJ et al.

    Source: Neurology [Neurology] 2026 Mar 24; Vol. 106 (6), pp. e214645. Date of Electronic Publication: 2026 Feb 13.

    Publication Type: Journal Article

    Journal Info: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 0401060 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1526-632X (Electronic) Linking ISSN: 00283878 NLM ISO Abbreviation: Neurology Subsets: MEDLINE

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  5. 5

    Neuron-specific protein network mapping of autism risk genes identifies shared biological mechanisms and disease-relevant pathologies.

    Authors: Murtaza N Cheng AA Brown CO et al.

    Source: Cell reports [Cell Rep] 2022 Nov 22; Vol. 41 (8), pp. 111678.

    Publication Type: Journal Article; 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

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