ZIA HG000215/ImNIH/Intramural NIH HHS/United States[Grants and Funding] - Search Results

Year	Number of Results
2009	3
2010	3
2011	6
2012	13
2013	10
2014	3
2015	1
2016	2
2017	1
2018	2
2019	1
2020	2
2021	1
2022	2
2023	2
2024	2
2025	1

1

DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics.

Simeonov DR, Wang X, Wang C, Sergeev Y, Dolinska M, Bower M, Fischer R, Winer D, Dubrovsky G, Balog JZ, Huizing M, Hart R, Zein WM, Gahl WA, Brooks BP, Adams DR. Simeonov DR, et al. Hum Mutat. 2013 Jun;34(6):827-35. doi: 10.1002/humu.22315. Epub 2013 Apr 30. Hum Mutat. 2013. PMID: 23504663 Free PMC article. Review.

2

Adult-onset neurodegeneration in XMEN disease.

Benavides D, Ebrahim A, Ravell JC, Lenardo M, Gahl WA, Toro C. Benavides D, et al. J Neuroimmunol. 2024 Jan 15;386:578251. doi: 10.1016/j.jneuroim.2023.578251. Epub 2023 Nov 24. J Neuroimmunol. 2024. PMID: 38041964 Free PMC article.

3

Haplotype-based analysis resolves missing heritability in oculocutaneous albinism type 1B.

Loftus SK, Gillis MF, Lundh L, Baxter LL, Wedel JC, Watkins-Chow DE, Donovan FX; NISC Comparative Sequencing Program; Sergeev YV, Oetting WS, Pavan WJ, Adams DR. Loftus SK, et al. Am J Hum Genet. 2023 Jul 6;110(7):1123-1137. doi: 10.1016/j.ajhg.2023.05.012. Epub 2023 Jun 15. Am J Hum Genet. 2023. PMID: 37327787 Free PMC article.

4

The NIH Undiagnosed Diseases Program and Network: Applications to modern medicine.

Gahl WA, Mulvihill JJ, Toro C, Markello TC, Wise AL, Ramoni RB, Adams DR, Tifft CJ; UDN. Gahl WA, et al. Mol Genet Metab. 2016 Apr;117(4):393-400. doi: 10.1016/j.ymgme.2016.01.007. Epub 2016 Jan 22. Mol Genet Metab. 2016. PMID: 26846157 Free PMC article.

5

NT5E mutations and arterial calcifications.

St Hilaire C, Ziegler SG, Markello TC, Brusco A, Groden C, Gill F, Carlson-Donohoe H, Lederman RJ, Chen MY, Yang D, Siegenthaler MP, Arduino C, Mancini C, Freudenthal B, Stanescu HC, Zdebik AA, Chaganti RK, Nussbaum RL, Kleta R, Gahl WA, Boehm M. St Hilaire C, et al. N Engl J Med. 2011 Feb 3;364(5):432-42. doi: 10.1056/NEJMoa0912923. N Engl J Med. 2011. PMID: 21288095 Free PMC article.

6

Evidence for defective Rab GTPase-dependent cargo traffic in immune disorders.

Krzewski K, Cullinane AR. Krzewski K, et al. Exp Cell Res. 2013 Sep 10;319(15):2360-7. doi: 10.1016/j.yexcr.2013.06.012. Epub 2013 Jun 26. Exp Cell Res. 2013. PMID: 23810987 Free PMC article. Review.

7

Coffin-Siris syndrome: phenotypic evolution of a novel SMARCA4 mutation.

Tzeng M, du Souich C, Cheung HW, Boerkoel CF. Tzeng M, et al. Am J Med Genet A. 2014 Jul;164A(7):1808-14. doi: 10.1002/ajmg.a.36533. Epub 2014 Apr 3. Am J Med Genet A. 2014. PMID: 24700502 Free PMC article. Review.

8

Phenotypic evolution of UNC80 loss of function.

Valkanas E, Schaffer K, Dunham C, Maduro V, du Souich C, Rupps R, Adams DR, Baradaran-Heravi A, Flynn E, Malicdan MC, Gahl WA, Toro C, Boerkoel CF. Valkanas E, et al. Am J Med Genet A. 2016 Dec;170(12):3106-3114. doi: 10.1002/ajmg.a.37929. Epub 2016 Aug 11. Am J Med Genet A. 2016. PMID: 27513830 Free PMC article.

9

Genome-scale sequencing to identify genes involved in Mendelian disorders.

Markello TC, Adams DR. Markello TC, et al. Curr Protoc Hum Genet. 2013 Oct 18;79:6.13.1-6.13.19. doi: 10.1002/0471142905.hg0613s79. Curr Protoc Hum Genet. 2013. PMID: 24510651 Free PMC article.

10

Cultural differences define diagnosis and genomic medicine practice: implications for undiagnosed diseases program in China.

Duan X, Markello T, Adams D, Toro C, Tifft C, Gahl WA, Boerkoel CF. Duan X, et al. Front Med. 2013 Sep;7(3):389-94. doi: 10.1007/s11684-013-0281-3. Epub 2013 Jul 15. Front Med. 2013. PMID: 23856975 Free PMC article.

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