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Items: 1 to 20 of 101

1.

Genetic architecture of laterality defects revealed by whole exome sequencing.

Li AH, Hanchard NA, Azamian M, D'Alessandro LCA, Coban-Akdemir Z, Lopez KN, Hall NJ, Dickerson H, Nicosia A, Fernbach S, Boone PM, Gambin T, Karaca E, Gu S, Yuan B, Jhangiani SN, Doddapaneni H, Hu J, Dinh H, Jayaseelan J, Muzny D, Lalani S, Towbin J, Penny D, Fraser C, Martin J, Lupski JR, Gibbs RA, Boerwinkle E, Ware SM, Belmont JW.

Eur J Hum Genet. 2019 Apr;27(4):563-573. doi: 10.1038/s41431-018-0307-z. Epub 2019 Jan 8.

PMID:
30622330
2.

Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns.

Li AH, Hanchard NA, Furthner D, Fernbach S, Azamian M, Nicosia A, Rosenfeld J, Muzny D, D'Alessandro LCA, Morris S, Jhangiani S, Parekh DR, Franklin WJ, Lewin M, Towbin JA, Penny DJ, Fraser CD, Martin JF, Eng C, Lupski JR, Gibbs RA, Boerwinkle E, Belmont JW.

Genome Med. 2017 Oct 31;9(1):95. doi: 10.1186/s13073-017-0482-5.

3.

Rare copy number variants analysis identifies novel candidate genes in heterotaxy syndrome patients with congenital heart defects.

Liu C, Cao R, Xu Y, Li T, Li F, Chen S, Xu R, Sun K.

Genome Med. 2018 May 30;10(1):40. doi: 10.1186/s13073-018-0549-y.

4.

DNAH6 and Its Interactions with PCD Genes in Heterotaxy and Primary Ciliary Dyskinesia.

Li Y, Yagi H, Onuoha EO, Damerla RR, Francis R, Furutani Y, Tariq M, King SM, Hendricks G, Cui C, Saydmohammed M, Lee DM, Zahid M, Sami I, Leatherbury L, Pazour GJ, Ware SM, Nakanishi T, Goldmuntz E, Tsang M, Lo CW.

PLoS Genet. 2016 Feb 26;12(2):e1005821. doi: 10.1371/journal.pgen.1005821. eCollection 2016 Feb.

5.

A human laterality disorder caused by a homozygous deleterious mutation in MMP21.

Perles Z, Moon S, Ta-Shma A, Yaacov B, Francescatto L, Edvardson S, Rein AJ, Elpeleg O, Katsanis N.

J Med Genet. 2015 Dec;52(12):840-7. doi: 10.1136/jmedgenet-2015-103336. Epub 2015 Oct 1.

6.

SHROOM3 is a novel candidate for heterotaxy identified by whole exome sequencing.

Tariq M, Belmont JW, Lalani S, Smolarek T, Ware SM.

Genome Biol. 2011 Sep 21;12(9):R91. doi: 10.1186/gb-2011-12-9-r91.

7.

Copy number variation as a genetic basis for heterotaxy and heterotaxy-spectrum congenital heart defects.

Cowan JR, Tariq M, Shaw C, Rao M, Belmont JW, Lalani SR, Smolarek TA, Ware SM.

Philos Trans R Soc Lond B Biol Sci. 2016 Dec 19;371(1710). pii: 20150406.

8.

Concurrent exome-targeted next-generation sequencing and single nucleotide polymorphism array to identify the causative genetic aberrations of isolated Mayer-Rokitansky-Küster-Hauser syndrome.

Chen MJ, Wei SY, Yang WS, Wu TT, Li HY, Ho HN, Yang YS, Chen PL.

Hum Reprod. 2015 Jul;30(7):1732-42. doi: 10.1093/humrep/dev095. Epub 2015 Apr 29.

PMID:
25924657
9.

NPHP4 variants are associated with pleiotropic heart malformations.

French VM, van de Laar IM, Wessels MW, Rohe C, Roos-Hesselink JW, Wang G, Frohn-Mulder IM, Severijnen LA, de Graaf BM, Schot R, Breedveld G, Mientjes E, van Tienhoven M, Jadot E, Jiang Z, Verkerk A, Swagemakers S, Venselaar H, Rahimi Z, Najmabadi H, Meijers-Heijboer H, de Graaff E, Helbing WA, Willemsen R, Devriendt K, Belmont JW, Oostra BA, Amack JD, Bertoli-Avella AM.

Circ Res. 2012 Jun 8;110(12):1564-74. doi: 10.1161/CIRCRESAHA.112.269795. Epub 2012 May 1.

10.

Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations.

Mohapatra B, Casey B, Li H, Ho-Dawson T, Smith L, Fernbach SD, Molinari L, Niesh SR, Jefferies JL, Craigen WJ, Towbin JA, Belmont JW, Ware SM.

Hum Mol Genet. 2009 Mar 1;18(5):861-71. doi: 10.1093/hmg/ddn411. Epub 2008 Dec 8.

11.

A novel ZIC3 gene mutation identified in patients with heterotaxy and congenital heart disease.

Li S, Liu S, Chen W, Yuan Y, Gu R, Song Y, Li J, Cao Y, Lin Y, Xu J, Wang H, Ma D, Ma X, Sheng W, Huang G.

Sci Rep. 2018 Aug 17;8(1):12386. doi: 10.1038/s41598-018-30204-3.

12.

Reduced NODAL signaling strength via mutation of several pathway members including FOXH1 is linked to human heart defects and holoprosencephaly.

Roessler E, Ouspenskaia MV, Karkera JD, Vélez JI, Kantipong A, Lacbawan F, Bowers P, Belmont JW, Towbin JA, Goldmuntz E, Feldman B, Muenke M.

Am J Hum Genet. 2008 Jul;83(1):18-29. doi: 10.1016/j.ajhg.2008.05.012. Epub 2008 Jun 5.

13.

Mutations of 60 known causative genes in 157 families with retinitis pigmentosa based on exome sequencing.

Xu Y, Guan L, Shen T, Zhang J, Xiao X, Jiang H, Li S, Yang J, Jia X, Yin Y, Guo X, Wang J, Zhang Q.

Hum Genet. 2014 Oct;133(10):1255-71. doi: 10.1007/s00439-014-1460-2. Epub 2014 Jun 18.

PMID:
24938718
14.

Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy.

McMichael G, Bainbridge MN, Haan E, Corbett M, Gardner A, Thompson S, van Bon BW, van Eyk CL, Broadbent J, Reynolds C, O'Callaghan ME, Nguyen LS, Adelson DL, Russo R, Jhangiani S, Doddapaneni H, Muzny DM, Gibbs RA, Gecz J, MacLennan AH.

Mol Psychiatry. 2015 Feb;20(2):176-82. doi: 10.1038/mp.2014.189. Epub 2015 Feb 10.

PMID:
25666757
15.

Variants of the CFC1 gene in patients with laterality defects associated with congenital cardiac disease.

Selamet Tierney ES, Marans Z, Rutkin MB, Chung WK.

Cardiol Young. 2007 Jun;17(3):268-74. Epub 2007 Apr 20.

PMID:
17445335
16.

De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders.

Qi H, Yu L, Zhou X, Wynn J, Zhao H, Guo Y, Zhu N, Kitaygorodsky A, Hernan R, Aspelund G, Lim FY, Crombleholme T, Cusick R, Azarow K, Danko ME, Chung D, Warner BW, Mychaliska GB, Potoka D, Wagner AJ, ElFiky M, Wilson JM, Nickerson D, Bamshad M, High FA, Longoni M, Donahoe PK, Chung WK, Shen Y.

PLoS Genet. 2018 Dec 10;14(12):e1007822. doi: 10.1371/journal.pgen.1007822. eCollection 2018 Dec.

17.

Targeted massively parallel sequencing of autism spectrum disorder-associated genes in a case control cohort reveals rare loss-of-function risk variants.

Griswold AJ, Dueker ND, Van Booven D, Rantus JA, Jaworski JM, Slifer SH, Schmidt MA, Hulme W, Konidari I, Whitehead PL, Cuccaro ML, Martin ER, Haines JL, Gilbert JR, Hussman JP, Pericak-Vance MA.

Mol Autism. 2015 Jul 7;6:43. doi: 10.1186/s13229-015-0034-z. eCollection 2015.

18.

Variable cardiovascular phenotypes associated with SMAD2 pathogenic variants.

Granadillo JL, Chung WK, Hecht L, Corsten-Janssen N, Wegner D, Nij Bijvank SWA, Toler TL, Pineda-Alvarez DE, Douglas G, Murphy JJ, Shimony J, Shinawi M.

Hum Mutat. 2018 Dec;39(12):1875-1884. doi: 10.1002/humu.23627. Epub 2018 Sep 24.

PMID:
30157302
19.

Exome Sequencing of Familial Bipolar Disorder.

Goes FS, Pirooznia M, Parla JS, Kramer M, Ghiban E, Mavruk S, Chen YC, Monson ET, Willour VL, Karchin R, Flickinger M, Locke AE, Levy SE, Scott LJ, Boehnke M, Stahl E, Moran JL, Hultman CM, Landén M, Purcell SM, Sklar P, Zandi PP, McCombie WR, Potash JB.

JAMA Psychiatry. 2016 Jun 1;73(6):590-7. doi: 10.1001/jamapsychiatry.2016.0251.

20.

Genome-wide enrichment of damaging de novo variants in patients with isolated and complex congenital diaphragmatic hernia.

Longoni M, High FA, Qi H, Joy MP, Hila R, Coletti CM, Wynn J, Loscertales M, Shan L, Bult CJ, Wilson JM, Shen Y, Chung WK, Donahoe PK.

Hum Genet. 2017 Jun;136(6):679-691. doi: 10.1007/s00439-017-1774-y. Epub 2017 Mar 16.

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