Search Results - "NISC Comparative Sequencing Program"

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Revealing Mammalian Evolutionary Relationships by Comparative Analysis of Gene Clusters.

Authors: Song, Giltae Riemer, Cathy Dickins, Benjamin et al.

Source: Genome Biology & Evolution; Sep2012, Vol. 4 Issue 9, p586-601, 16p

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First insight into the somatic mutation burden of neurofibromatosis type 2-associated grade I and grade II meningiomas: a case report comprehensive genomic study of two cranial meningiomas with vastly different clinical presentation.

Authors: Dewan, Ramita Pemov, Alexander Dutra, Amalia S. et al.

Source: BMC Cancer. 2/13/2017, Vol. 17, p1-10. 10p. 1 Color Photograph, 3 Diagrams, 2 Charts, 1 Graph.

Disseminated Mycobacterium marinum in Human Immunodeficiency Virus Unmasked by Immune Reconstitution Inflammatory Syndrome.

Authors: Manion, Maura Chiang, Augusto Dulanto Pei, Luxin et al.

Source: Journal of Infectious Diseases. Aug2021, Vol. 224 Issue 3, p453-457. 5p.

Somatic mutation profiles of clear cell endometrial tumors revealed by whole exome and targeted gene sequencing.

Authors: Le Gallo, Matthieu Rudd, Meghan L. Urick, Mary Ellen et al.

Source: Cancer (0008543X). Sep2017, Vol. 123 Issue 17, p3261-3268. 9p.

Recombination mapping using Boolean logic and high-density SNP genotyping for exome sequence filtering

Authors: Markello, Thomas C. Han, Ted Carlson-Donohoe, Hannah et al.

Source: Molecular Genetics & Metabolism. Mar2012, Vol. 105 Issue 3, p382-389. 8p.

Homozygosity Mapping and Whole-Exome Sequencing to Detect SLC45A2 and G6PC3 Mutations in a Single Patient with Oculocutaneous Albinism and Neutropenia.

Authors: Cullinane, Andrew R Vilboux, Thierry O'Brien, Kevin et al.

Source: Journal of Investigative Dermatology. Oct2011, Vol. 131 Issue 10, p2017-2025. 9p.

Personalized genomic medicine: Lessons from the exome

Authors: Solomon, Benjamin D. Pineda-Alvarez, Daniel E. Hadley, Donald W. et al.

Source: Molecular Genetics & Metabolism. Sep2011, Vol. 104 Issue 1/2, p189-191. 3p.

Mutational analysis of the tyrosine kinome in serous and clear cell endometrial cancer uncovers rare somatic mutations in TNK2 and DDR1.

Authors: Rudd, Meghan L Mohamed, Hassan Price, Jessica C et al.

Source: BMC Cancer. 2014, Vol. 14 Issue 1, p884-884. 1p.

A custom capture sequence approach for oculocutaneous albinism identifies structural variant alleles at the OCA2 locus.

Authors: Loftus SK Lundh L Watkins-Chow DE et al.

Source: Human mutation [Hum Mutat] 2021 Oct; Vol. 42 (10), pp. 1239-1253. Date of Electronic Publication: 2021 Aug 01.

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

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

Developmental pathway for potent V1V2-directed HIV-neutralizing antibodies.

Authors: Doria-Rose NA Schramm CA Gorman J et al.

Corporate Authors: Doria-Rose NA Schramm CA Gorman J et al.

Source: Nature [Nature] 2014 May 01; Vol. 509 (7498), pp. 55-62. Date of Electronic Publication: 2014 Mar 02.

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

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 0410462 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-4687 (Electronic) Linking ISSN: 00280836 NLM ISO Abbreviation: Nature Subsets: MEDLINE

Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases.

Authors: Pierson TM Adams D Bonn F et al.

Source: PLoS genetics [PLoS Genet] 2011 Oct; Vol. 7 (10), pp. e1002325. Date of Electronic Publication: 2011 Oct 13.

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: Public Library of Science Country of Publication: United States NLM ID: 101239074 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1553-7404 (Electronic) Linking ISSN: 15537390 NLM ISO Abbreviation: PLoS Genet Subsets: MEDLINE

Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center.

Authors: Vilboux T Doherty DA Glass IA et al.

Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2017 Aug; Vol. 19 (8), pp. 875-882. Date of Electronic Publication: 2017 Jan 26.

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

Somatic mutations in MAP3K5 attenuate its proapoptotic function in melanoma through increased binding to thioredoxin.

Authors: Prickett TD Zerlanko B Gartner JJ et al.

Source: The Journal of investigative dermatology [J Invest Dermatol] 2014 Feb; Vol. 134 (2), pp. 452-460. Date of Electronic Publication: 2013 Sep 05.

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: Elsevier Country of Publication: United States NLM ID: 0426720 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1523-1747 (Electronic) Linking ISSN: 0022202X NLM ISO Abbreviation: J Invest Dermatol Subsets: MEDLINE

Comparative analysis of the primate X-inactivation center region and reconstruction of the ancestral primate XIST locus.

Authors: Horvath JE Sheedy CB Merrett SL et al.

Source: Genome research [Genome Res] 2011 Jun; Vol. 21 (6), pp. 850-62. Date of Electronic Publication: 2011 Apr 25.

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

Journal Info: Publisher: Cold Spring Harbor Laboratory Press Country of Publication: United States NLM ID: 9518021 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1549-5469 (Electronic) Linking ISSN: 10889051 NLM ISO Abbreviation: Genome Res Subsets: MEDLINE