Toriello HV - Search Results

1

A novel SYNJ1 homozygous variant causing developmental and epileptic encephalopathy in an Afro-Caribbean individual.

Maj M, Taylor CL, Landau K, Toriello HV, Li D, Bhoj EJ, Hakonarson H, Nelson B, Gluschitz S, Walker RH, Sobering AK. Maj M, et al. Among authors: toriello hv. Mol Genet Genomic Med. 2023 Jan;11(1):e2064. doi: 10.1002/mgg3.2064. Epub 2022 Sep 23. Mol Genet Genomic Med. 2023. PMID: 36148638 Free PMC article.

2

Experiences with offering pro bono medical genetics services in the West Indies: Benefits to patients, physicians, and the community.

Sobering AK, Li D, Beighley JS, Carey JC, Donald T, Elsea SH, Figueroa KP, Gerdts J, Hamlet A, Mirzaa GM, Nelson B, Pulst SM, Smith JL, Tassone F, Toriello HV, Walker RH, Yearwood KR, Bhoj EJ. Sobering AK, et al. Among authors: toriello hv. Am J Med Genet C Semin Med Genet. 2020 Dec;184(4):1030-1041. doi: 10.1002/ajmg.c.31871. Epub 2020 Dec 4. Am J Med Genet C Semin Med Genet. 2020. PMID: 33274544 Free PMC article.

3

2022 Association of Professors of Human and Medical Genetics (APHMG) consensus-based update of the core competencies for undergraduate medical education in genetics and genomics.

Massingham LJ, Nuñez S, Bernstein JA, Gardner DP, Parikh AS, Strovel ET, Quintero-Rivera F; Association of Professors of Human and Medical Genetics Course Directors Special Interest Group Medical Education Core Curriculum Workgroup. Massingham LJ, et al. Genet Med. 2022 Oct;24(10):2167-2179. doi: 10.1016/j.gim.2022.07.014. Epub 2022 Aug 31. Genet Med. 2022. PMID: 36040446 Free article.

4

Novel autosomal dominant mandibulofacial dysostosis with ptosis: clinical description and exclusion of TCOF1.

Hedera P, Toriello HV, Petty EM. Hedera P, et al. Among authors: toriello hv. J Med Genet. 2002 Jul;39(7):484-8. doi: 10.1136/jmg.39.7.484. J Med Genet. 2002. PMID: 12114479 Free PMC article.

5

Acro-oto-ocular syndrome: further evidence for a new autosomal recessive disorder.

Bertola DR, Wolf LM, Toriello HV, Netzloff ML. Bertola DR, et al. Among authors: toriello hv. Am J Med Genet. 1997 Dec 31;73(4):442-6. Am J Med Genet. 1997. PMID: 9415472

6

Corpus callosum agenesis, facial anomalies, Robin sequence, and other anomalies: a new autosomal recessive syndrome?

Toriello HV, Carey JC. Toriello HV, et al. Am J Med Genet. 1988 Sep;31(1):17-23. doi: 10.1002/ajmg.1320310105. Am J Med Genet. 1988. PMID: 3223497

7

Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: five novel mutations and review of the literature.

Mirzaa GM, Enyedi L, Parsons G, Collins S, Medne L, Adams C, Ward T, Davitt B, Bicknese A, Zackai E, Toriello H, Dobyns WB, Christian S. Mirzaa GM, et al. Am J Med Genet A. 2014 Nov;164A(11):2879-86. doi: 10.1002/ajmg.a.36707. Epub 2014 Aug 12. Am J Med Genet A. 2014. PMID: 25115524 Free PMC article. Review.

8

Six patients with oral-facial-digital syndrome IV: the case for heterogeneity.

Toriello HV, Carey JC, Suslak E, Desposito FR, Leonard B, Lipson M, Friedman BD, Hoyme HE. Toriello HV, et al. Am J Med Genet. 1997 Mar 31;69(3):250-60. Am J Med Genet. 1997. PMID: 9096753

9

Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems.

Williams SR, Aldred MA, Der Kaloustian VM, Halal F, Gowans G, McLeod DR, Zondag S, Toriello HV, Magenis RE, Elsea SH. Williams SR, et al. Among authors: toriello hv. Am J Hum Genet. 2010 Aug 13;87(2):219-28. doi: 10.1016/j.ajhg.2010.07.011. Am J Hum Genet. 2010. PMID: 20691407 Free PMC article.

10

Toriello-Carey syndrome: delineation and review.

Toriello HV, Carey JC, Addor MC, Allen W, Burke L, Chun N, Dobyns W, Elias E, Gallagher R, Hordijk R, Hoyme G, Irons M, Jewett T, LeMerrer M, Lubinsky M, Martin R, McDonald-McGinn D, Neumann L, Newman W, Pauli R, Seaver L, Tsai A, Wargowsky D, Williams M, Zackai E. Toriello HV, et al. Am J Med Genet A. 2003 Nov 15;123A(1):84-90. doi: 10.1002/ajmg.a.20493. Am J Med Genet A. 2003. PMID: 14556252 Review.

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