So J - Search Results

1

Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features.

Rafiq MA, Leblond CS, Saqib MA, Vincent AK, Ambalavanan A, Khan FS, Ayaz M, Shaheen N, Spiegelman D, Ali G, Amin-ud-Din M, Laurent S, Mahmood H, Christian M, Ali N, Fennell A, Nanjiani Z, Egger G, Caron C, Waqas A, Ayub M, Rasheed S, Forgeot d'Arc B, Johnson A, So J, Brohi MQ, Mottron L, Ansar M, Vincent JB, Xiong L. Rafiq MA, et al. Among authors: so j. BMC Med Genet. 2015 Jun 25;16:41. doi: 10.1186/s12881-015-0183-0. BMC Med Genet. 2015. PMID: 26104215 Free PMC article.

2

Truncation of the E3 ubiquitin ligase component FBXO31 causes non-syndromic autosomal recessive intellectual disability in a Pakistani family.

Mir A, Sritharan K, Mittal K, Vasli N, Araujo C, Jamil T, Rafiq MA, Anwar Z, Mikhailov A, Rauf S, Mahmood H, Shakoor A, Ali S, So J, Naeem F, Ayub M, Vincent JB. Mir A, et al. Among authors: so j. Hum Genet. 2014 Aug;133(8):975-84. doi: 10.1007/s00439-014-1438-0. Epub 2014 Mar 13. Hum Genet. 2014. PMID: 24623383

3

Delineating the 15q13.3 microdeletion phenotype: a case series and comprehensive review of the literature.

Lowther C, Costain G, Stavropoulos DJ, Melvin R, Silversides CK, Andrade DM, So J, Faghfoury H, Lionel AC, Marshall CR, Scherer SW, Bassett AS. Lowther C, et al. Among authors: so j. Genet Med. 2015 Feb;17(2):149-57. doi: 10.1038/gim.2014.83. Epub 2014 Jul 31. Genet Med. 2015. PMID: 25077648 Free PMC article. Review.

4

Microdeletion 8q22.2-q22.3 in a 40-year-old male.

Sinajon P, Gofine T, Ingram J, So J. Sinajon P, et al. Among authors: so j. Eur J Med Genet. 2015 Nov;58(11):569-72. doi: 10.1016/j.ejmg.2015.10.004. Epub 2015 Oct 9. Eur J Med Genet. 2015. PMID: 26455667

5

A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotype.

Beunders G, van de Kamp J, Vasudevan P, Morton J, Smets K, Kleefstra T, de Munnik SA, Schuurs-Hoeijmakers J, Ceulemans B, Zollino M, Hoffjan S, Wieczorek S, So J, Mercer L, Walker T, Velsher L; DDD study; Parker MJ, Magee AC, Elffers B, Kooy RF, Yntema HG, Meijers-Heijboer EJ, Sistermans EA. Beunders G, et al. Among authors: so j. J Med Genet. 2016 Aug;53(8):523-32. doi: 10.1136/jmedgenet-2015-103601. Epub 2016 Apr 13. J Med Genet. 2016. PMID: 27075013

6

The expanding phenotypic spectrum of female SLC9A6 mutation carriers: a case series and review of the literature.

Sinajon P, Verbaan D, So J. Sinajon P, et al. Among authors: so j. Hum Genet. 2016 Aug;135(8):841-50. doi: 10.1007/s00439-016-1675-5. Epub 2016 May 3. Hum Genet. 2016. PMID: 27142213 Review.

7

Mutations in the genes for thyroglobulin and thyroid peroxidase cause thyroid dyshormonogenesis and autosomal-recessive intellectual disability.

Mittal K, Rafiq MA, Rafiullah R, Harripaul R, Ali H, Ayaz M, Aslam M, Naeem F, Amin-Ud-Din M, Waqas A, So J, Rappold GA, Vincent JB, Ayub M. Mittal K, et al. Among authors: so j. J Hum Genet. 2016 Oct;61(10):867-872. doi: 10.1038/jhg.2016.62. Epub 2016 Jun 16. J Hum Genet. 2016. PMID: 27305979

8

Enrichment of pathogenic variants in genes associated with inborn errors of metabolism in psychiatric populations.

Sriretnakumar V, Harripaul R, Vincent JB, Kennedy JL, So J. Sriretnakumar V, et al. Among authors: so j. Am J Med Genet B Neuropsychiatr Genet. 2019 Jan;180(1):46-54. doi: 10.1002/ajmg.b.32702. Epub 2018 Dec 16. Am J Med Genet B Neuropsychiatr Genet. 2019. PMID: 30556376

9

Expanding the clinical spectrum of ocular anomalies in Noonan syndrome: Axenfeld-anomaly in a child with PTPN11 mutation.

Guerin A, So J, Mireskandari K, Jougeh-Doust S, Chisholm C, Klatt R, Richer J. Guerin A, et al. Among authors: so j. Am J Med Genet A. 2015 Feb;167A(2):403-6. doi: 10.1002/ajmg.a.36841. Epub 2014 Nov 25. Am J Med Genet A. 2015. PMID: 25425531

10

Deletion of 15q11.2(BP1-BP2) region: further evidence for lack of phenotypic specificity in a pediatric population.

Hashemi B, Bassett A, Chitayat D, Chong K, Feldman M, Flanagan J, Goobie S, Kawamura A, Lowther C, Prasad C, Siu V, So J, Tung S, Speevak M, Stavropoulos DJ, Carter MT. Hashemi B, et al. Among authors: so j. Am J Med Genet A. 2015 Sep;167A(9):2098-102. doi: 10.1002/ajmg.a.37134. Epub 2015 May 6. Am J Med Genet A. 2015. PMID: 25946043

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