R29 DC003594/DC/NIDCD NIH HHS/United States[Grants and Funding] - Search Results

Year	Number of Results
1999	1
2000	3
2001	3
2002	2
2003	7
2004	1
2005	4
2006	1
2007	1
2008	3
2009	1
2010	3
2011	7
2012	3
2013	2
2015	1
2018	1
2019	1
2021	4
2022	2
2024	0

1

Genomic analysis of childhood hearing loss in the Yoruba population of Nigeria.

Adeyemo A, Faridi R, Chattaraj P, Yousaf R, Tona R, Okorie S, Bharadwaj T, Nouel-Saied LM, Acharya A, Schrauwen I, Morell RJ, Leal SM, Friedman TB, Griffith AJ, Roux I. Adeyemo A, et al. Eur J Hum Genet. 2022 Jan;30(1):42-52. doi: 10.1038/s41431-021-00984-w. Epub 2021 Nov 26. Eur J Hum Genet. 2022. PMID: 34837038 Free PMC article.

2

Identification of autosomal recessive nonsyndromic hearing impairment genes through the study of consanguineous and non-consanguineous families: past, present, and future.

Acharya A, Schrauwen I, Leal SM. Acharya A, et al. Hum Genet. 2022 Apr;141(3-4):413-430. doi: 10.1007/s00439-021-02309-9. Epub 2021 Jul 22. Hum Genet. 2022. PMID: 34291353 Free PMC article. Review.

3

Wolfram-like syndrome with bicuspid aortic valve due to a homozygous missense variant in CDK13.

Acharya A, Raza SI, Anwar MZ, Bharadwaj T, Liaqat K, Khokhar MAS, Everard JL, Nasir A; University of Washington Center for Mendelian Genomics; Nickerson DA, Bamshad MJ, Ansar M, Schrauwen I, Ahmad W, Leal SM. Acharya A, et al. J Hum Genet. 2021 Oct;66(10):1009-1018. doi: 10.1038/s10038-021-00922-0. Epub 2021 Apr 21. J Hum Genet. 2021. PMID: 33879837 Free PMC article.

4

A novel variant in DMXL2 gene is associated with autosomal dominant non-syndromic hearing impairment (DFNA71) in a Cameroonian family.

Wonkam-Tingang E, Schrauwen I, Esoh KK, Bharadwaj T, Nouel-Saied LM, Acharya A, Nasir A, Leal SM, Wonkam A. Wonkam-Tingang E, et al. Exp Biol Med (Maywood). 2021 Jul;246(13):1524-1532. doi: 10.1177/1535370221999746. Epub 2021 Mar 9. Exp Biol Med (Maywood). 2021. PMID: 33715530 Free PMC article.

5

A Start Codon Variant in NOG Underlies Symphalangism and Ossicular Chain Malformations Affecting Both the Incus and the Stapes.

Lindquist NR, Appelbaum EN, Acharya A, Vrabec JT, Leal SM, Schrauwen I. Lindquist NR, et al. Case Rep Genet. 2019 Jul 22;2019:2836263. doi: 10.1155/2019/2836263. eCollection 2019. Case Rep Genet. 2019. PMID: 31428484 Free PMC article.

6

Novel missense and 3'-UTR splice site variants in LHFPL5 cause autosomal recessive nonsyndromic hearing impairment.

Liaqat K, Chiu I, Lee K, Chakchouk I, Andrade-Elizondo PB, Santos-Cortez RLP, Hussain S, Nawaz S, Ansar M, Khan MN, Basit S, Schrauwen I, Ahmad W, Leal SM. Liaqat K, et al. J Hum Genet. 2018 Nov;63(11):1099-1107. doi: 10.1038/s10038-018-0502-3. Epub 2018 Sep 3. J Hum Genet. 2018. PMID: 30177809 Free PMC article.

7

Collapsed haplotype pattern method for linkage analysis of next-generation sequence data.

Wang GT, Zhang D, Li B, Dai H, Leal SM. Wang GT, et al. Eur J Hum Genet. 2015 Dec;23(12):1739-43. doi: 10.1038/ejhg.2015.64. Epub 2015 Apr 15. Eur J Hum Genet. 2015. PMID: 25873013 Free PMC article.

8

Mutations in KARS, encoding lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic hearing impairment DFNB89.

Santos-Cortez RL, Lee K, Azeem Z, Antonellis PJ, Pollock LM, Khan S, Irfanullah, Andrade-Elizondo PB, Chiu I, Adams MD, Basit S, Smith JD; University of Washington Center for Mendelian Genomics; Nickerson DA, McDermott BM Jr, Ahmad W, Leal SM. Santos-Cortez RL, et al. Am J Hum Genet. 2013 Jul 11;93(1):132-40. doi: 10.1016/j.ajhg.2013.05.018. Epub 2013 Jun 13. Am J Hum Genet. 2013. PMID: 23768514 Free PMC article.

9

Novel OTOA mutations cause autosomal recessive non-syndromic hearing impairment in Pakistani families.

Lee K, Chiu I, Santos-Cortez RL, Basit S, Khan S, Azeem Z, Andrade PB, Kim SS, Ahmad W, Leal SM. Lee K, et al. Clin Genet. 2013 Sep;84(3):294-6. doi: 10.1111/cge.12047. Epub 2012 Nov 23. Clin Genet. 2013. PMID: 23173898 Free PMC article. No abstract available.

10

Novel CLDN14 mutations in Pakistani families with autosomal recessive non-syndromic hearing loss.

Lee K, Ansar M, Andrade PB, Khan B, Santos-Cortez RL, Ahmad W, Leal SM. Lee K, et al. Am J Med Genet A. 2012 Feb;158A(2):315-21. doi: 10.1002/ajmg.a.34407. Epub 2012 Jan 13. Am J Med Genet A. 2012. PMID: 22246673 Free PMC article.

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