Anyane-Yeboa K - Search Results

1

Phenotypic spectrum of the recurrent TRPM3 p.(Val837Met) substitution in seven individuals with global developmental delay and hypotonia.

Lines MA, Goldenberg P, Wong A, Srivastava S, Bayat A, Hove H, Karstensen HG, Anyane-Yeboa K, Liao J, Jiang N, May A, Guzman E, Morleo M, D'Arrigo S, Ciaccio C, Pantaleoni C, Castello R; TUDP Study Group; McKee S, Ong J, Zibdeh-Lough H, Tran-Mau-Them F, Gerasimenko A, Heron D, Keren B, Margot H, de Sainte Agathe JM, Burglen L, Voets T, Vriens J, Innes AM, Dyment DA. Lines MA, et al. Among authors: anyane yeboa k. Am J Med Genet A. 2022 Jun;188(6):1667-1675. doi: 10.1002/ajmg.a.62673. Epub 2022 Feb 10. Am J Med Genet A. 2022. PMID: 35146895

2

Preliminary definition of a "critical region" of chromosome 13 in q32: report of 14 cases with 13q deletions and review of the literature.

Brown S, Gersen S, Anyane-Yeboa K, Warburton D. Brown S, et al. Am J Med Genet. 1993 Jan 1;45(1):52-9. doi: 10.1002/ajmg.1320450115. Am J Med Genet. 1993. PMID: 8418661 Review.

3

Homozygosity for multiple contiguous single-nucleotide polymorphisms as an indicator of large heterozygous deletions: identification of a novel heterozygous 8-kb intragenic deletion (IVS7-19 to IVS15-17) in a patient with glycogen storage disease type II.

Huie ML, Anyane-Yeboa K, Guzman E, Hirschhorn R. Huie ML, et al. Am J Hum Genet. 2002 Apr;70(4):1054-7. doi: 10.1086/339691. Epub 2002 Feb 19. Am J Hum Genet. 2002. PMID: 11854868 Free PMC article.

4

The usefulness of whole-exome sequencing in routine clinical practice.

Iglesias A, Anyane-Yeboa K, Wynn J, Wilson A, Truitt Cho M, Guzman E, Sisson R, Egan C, Chung WK. Iglesias A, et al. Genet Med. 2014 Dec;16(12):922-31. doi: 10.1038/gim.2014.58. Epub 2014 Jun 5. Genet Med. 2014. PMID: 24901346 Free article.

5

Bohring-Opitz syndrome (BOS) with a new ASXL1 pathogenic variant: Review of the most prevalent molecular and phenotypic features of the syndrome.

Dangiolo SB, Wilson A, Jobanputra V, Anyane-Yeboa K. Dangiolo SB, et al. Am J Med Genet A. 2015 Dec;167A(12):3161-6. doi: 10.1002/ajmg.a.37342. Epub 2015 Sep 14. Am J Med Genet A. 2015. PMID: 26364555 Review.

6

FTO variant associated with malformation syndrome.

Rohena L, Lawson M, Guzman E, Ganapathi M, Cho MT, Haverfield E, Anyane-Yeboa K. Rohena L, et al. Am J Med Genet A. 2016 Apr;170A(4):1023-8. doi: 10.1002/ajmg.a.37515. Epub 2015 Dec 24. Am J Med Genet A. 2016. PMID: 26697951

7

Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.

Petrovski S, Küry S, Myers CT, Anyane-Yeboa K, Cogné B, Bialer M, Xia F, Hemati P, Riviello J, Mehaffey M, Besnard T, Becraft E, Wadley A, Politi AR, Colombo S, Zhu X, Ren Z, Andrews I, Dudding-Byth T, Schneider AL, Wallace G; University of Washington Center for Mendelian Genomics; Rosen ABI, Schelley S, Enns GM, Corre P, Dalton J, Mercier S, Latypova X, Schmitt S, Guzman E, Moore C, Bier L, Heinzen EL, Karachunski P, Shur N, Grebe T, Basinger A, Nguyen JM, Bézieau S, Wierenga K, Bernstein JA, Scheffer IE, Rosenfeld JA, Mefford HC, Isidor B, Goldstein DB. Petrovski S, et al. Am J Hum Genet. 2016 May 5;98(5):1001-1010. doi: 10.1016/j.ajhg.2016.03.011. Epub 2016 Apr 21. Am J Hum Genet. 2016. PMID: 27108799 Free PMC article.

8

Loss-of-function variants in NFIA provide further support that NFIA is a critical gene in 1p32-p31 deletion syndrome: A four patient series.

Revah-Politi A, Ganapathi M, Bier L, Cho MT, Goldstein DB, Hemati P, Iglesias A, Juusola J, Pappas J, Petrovski S, Wilson AL, Aggarwal VS, Anyane-Yeboa K. Revah-Politi A, et al. Am J Med Genet A. 2017 Dec;173(12):3158-3164. doi: 10.1002/ajmg.a.38460. Epub 2017 Sep 22. Am J Med Genet A. 2017. PMID: 28941020

9

Diagnostic exome sequencing in children: A survey of parental understanding, experience and psychological impact.

Wynn J, Ottman R, Duong J, Wilson AL, Ahimaz P, Martinez J, Rabin R, Rosen E, Webster R, Au C, Cho MT, Egan C, Guzman E, Primiano M, Shaw JE, Sisson R, Klitzman RL, Appelbaum PS, Lichter-Konecki U, Anyane-Yeboa K, Iglesias A, Chung WK. Wynn J, et al. Clin Genet. 2018 May;93(5):1039-1048. doi: 10.1111/cge.13200. Epub 2018 Mar 13. Clin Genet. 2018. PMID: 29266212 Free PMC article.

10

Homozygous noncanonical splice variant in LSM1 in two siblings with multiple congenital anomalies and global developmental delay.

Okur V, LeDuc CA, Guzman E, Valivullah ZM, Anyane-Yeboa K, Chung WK. Okur V, et al. Cold Spring Harb Mol Case Stud. 2019 Jun 3;5(3):a004101. doi: 10.1101/mcs.a004101. Print 2019 Jun. Cold Spring Harb Mol Case Stud. 2019. PMID: 31010896 Free PMC article.

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