Hu H - Search Results

1

PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects.

Petit F, Longoni M, Wells J, Maser RS, Bogenschutz EL, Dysart MJ, Contreras HTM, Frénois F, Pober BR, Clark RD, Giampietro PF, Ropers HH, Hu H, Loscertales M, Wagner R, Ai X, Brand H, Jourdain AS, Delrue MA, Gilbert-Dussardier B, Devisme L, Keren B, McCulley DJ, Qiao L, Hernan R, Wynn J, Scott TM, Calame DG, Coban-Akdemir Z, Hernandez P, Hernandez-Garcia A, Yonath H, Lupski JR, Shen Y, Chung WK, Scott DA, Bult CJ, Donahoe PK, High FA. Petit F, et al. Among authors: hu h. Am J Hum Genet. 2023 Oct 5;110(10):1787-1803. doi: 10.1016/j.ajhg.2023.09.002. Epub 2023 Sep 25. Am J Hum Genet. 2023. PMID: 37751738 Free PMC article.

2

Integrated sequence analysis pipeline provides one-stop solution for identifying disease-causing mutations.

Hu H, Wienker TF, Musante L, Kalscheuer VM, Kahrizi K, Najmabadi H, Ropers HH. Hu H, et al. Hum Mutat. 2014 Dec;35(12):1427-35. doi: 10.1002/humu.22695. Hum Mutat. 2014. PMID: 25219469

3

ST3GAL3 mutations impair the development of higher cognitive functions.

Hu H, Eggers K, Chen W, Garshasbi M, Motazacker MM, Wrogemann K, Kahrizi K, Tzschach A, Hosseini M, Bahman I, Hucho T, Mühlenhoff M, Gerardy-Schahn R, Najmabadi H, Ropers HH, Kuss AW. Hu H, et al. Am J Hum Genet. 2011 Sep 9;89(3):407-14. doi: 10.1016/j.ajhg.2011.08.008. Am J Hum Genet. 2011. PMID: 21907012 Free PMC article.

4

De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome.

Bainbridge MN, Hu H, Muzny DM, Musante L, Lupski JR, Graham BH, Chen W, Gripp KW, Jenny K, Wienker TF, Yang Y, Sutton VR, Gibbs RA, Ropers HH. Bainbridge MN, et al. Among authors: hu h. Genome Med. 2013 Feb 5;5(2):11. doi: 10.1186/gm415. eCollection 2013. Genome Med. 2013. PMID: 23383720 Free PMC article.

5

THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability.

Kumar R, Corbett MA, van Bon BW, Woenig JA, Weir L, Douglas E, Friend KL, Gardner A, Shaw M, Jolly LA, Tan C, Hunter MF, Hackett A, Field M, Palmer EE, Leffler M, Rogers C, Boyle J, Bienek M, Jensen C, Van Buggenhout G, Van Esch H, Hoffmann K, Raynaud M, Zhao H, Reed R, Hu H, Haas SA, Haan E, Kalscheuer VM, Gecz J. Kumar R, et al. Among authors: hu h. Am J Hum Genet. 2015 Aug 6;97(2):302-10. doi: 10.1016/j.ajhg.2015.05.021. Epub 2015 Jul 9. Am J Hum Genet. 2015. PMID: 26166480 Free PMC article.

6

The Role of a Novel TRMT1 Gene Mutation and Rare GRM1 Gene Defect in Intellectual Disability in Two Azeri Families.

Davarniya B, Hu H, Kahrizi K, Musante L, Fattahi Z, Hosseini M, Maqsoud F, Farajollahi R, Wienker TF, Ropers HH, Najmabadi H. Davarniya B, et al. Among authors: hu h. PLoS One. 2015 Aug 26;10(8):e0129631. doi: 10.1371/journal.pone.0129631. eCollection 2015. PLoS One. 2015. PMID: 26308914 Free PMC article.

7

Biallelic missense variants in ZBTB11 can cause intellectual disability in humans.

Fattahi Z, Sheikh TI, Musante L, Rasheed M, Taskiran II, Harripaul R, Hu H, Kazeminasab S, Alam MR, Hosseini M, Larti F, Ghaderi Z, Celik A, Ayub M, Ansar M, Haddadi M, Wienker TF, Ropers HH, Kahrizi K, Vincent JB, Najmabadi H. Fattahi Z, et al. Among authors: hu h. Hum Mol Genet. 2018 Sep 15;27(18):3177-3188. doi: 10.1093/hmg/ddy220. Hum Mol Genet. 2018. PMID: 29893856

8

A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability.

Huang L, Jolly LA, Willis-Owen S, Gardner A, Kumar R, Douglas E, Shoubridge C, Wieczorek D, Tzschach A, Cohen M, Hackett A, Field M, Froyen G, Hu H, Haas SA, Ropers HH, Kalscheuer VM, Corbett MA, Gecz J. Huang L, et al. Among authors: hu h. Am J Hum Genet. 2012 Oct 5;91(4):694-702. doi: 10.1016/j.ajhg.2012.08.011. Epub 2012 Sep 20. Am J Hum Genet. 2012. PMID: 23000143 Free PMC article.

9

A defect in the CLIP1 gene (CLIP-170) can cause autosomal recessive intellectual disability.

Larti F, Kahrizi K, Musante L, Hu H, Papari E, Fattahi Z, Bazazzadegan N, Liu Z, Banan M, Garshasbi M, Wienker TF, Ropers HH, Galjart N, Najmabadi H. Larti F, et al. Among authors: hu h. Eur J Hum Genet. 2015 Mar;23(3):331-6. doi: 10.1038/ejhg.2014.13. Epub 2014 Feb 26. Eur J Hum Genet. 2015. PMID: 24569606 Free PMC article.

10

Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots.

Kuss AW, Garshasbi M, Kahrizi K, Tzschach A, Behjati F, Darvish H, Abbasi-Moheb L, Puettmann L, Zecha A, Weissmann R, Hu H, Mohseni M, Abedini SS, Rajab A, Hertzberg C, Wieczorek D, Ullmann R, Ghasemi-Firouzabadi S, Banihashemi S, Arzhangi S, Hadavi V, Bahrami-Monajemi G, Kasiri M, Falah M, Nikuei P, Dehghan A, Sobhani M, Jamali P, Ropers HH, Najmabadi H. Kuss AW, et al. Among authors: hu h. Hum Genet. 2011 Feb;129(2):141-8. doi: 10.1007/s00439-010-0907-3. Epub 2010 Nov 10. Hum Genet. 2011. PMID: 21063731

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