Detalhe da pesquisa
1.
Carrier screening in the Mexican Jewish community using a pan-ethnic expanded carrier screening NGS panel.
Genet Med
; 24(4): 821-830, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34961661
2.
Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation.
Hum Mutat
; 41(12): 2028-2057, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32906214
3.
How I curate: applying American Society of Hematology-Clinical Genome Resource Myeloid Malignancy Variant Curation Expert Panel rules for RUNX1 variant curation for germline predisposition to myeloid malignancies.
Haematologica
; 105(4): 870-887, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32165484
4.
Variable cardiovascular phenotypes associated with SMAD2 pathogenic variants.
Hum Mutat
; 39(12): 1875-1884, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30157302
5.
Cytogenetics and holoprosencephaly: A chromosomal microarray study of 222 individuals with holoprosencephaly.
Am J Med Genet C Semin Med Genet
; 178(2): 175-186, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30182442
6.
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.
Genet Med
; 18(8): 823-32, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-26681312
7.
Cascade testing for hereditary cancer: comprehensive multigene panels identify unexpected actionable findings in relatives.
J Natl Cancer Inst
; 116(2): 334-337, 2024 Feb 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37756683
8.
Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog.
J Med Genet
; 49(7): 473-9, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22791840
9.
Missense substitutions in the GAS1 protein present in holoprosencephaly patients reduce the affinity for its ligand, SHH.
Hum Genet
; 131(2): 301-10, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-21842183
10.
Comparison of mutation findings in ZIC2 between microform and classical holoprosencephaly in a Brazilian cohort.
Birth Defects Res A Clin Mol Teratol
; 94(11): 912-7, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22847929
11.
Germline Pathogenic Variant Prevalence Among Latin American and US Hispanic Individuals Undergoing Testing for Hereditary Breast and Ovarian Cancer: A Cross-Sectional Study.
JCO Glob Oncol
; 8: e2200104, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35867948
12.
Minimal evidence for a direct involvement of twisted gastrulation homolog 1 (TWSG1) gene in human holoprosencephaly.
Mol Genet Metab
; 102(4): 470-80, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21227728
13.
Personalized genomic medicine: lessons from the exome.
Mol Genet Metab
; 104(1-2): 189-91, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21767969
14.
A broad range of ophthalmologic anomalies is part of the holoprosencephaly spectrum.
Am J Med Genet A
; 155A(11): 2713-20, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21976454
15.
VACTERL association and mitochondrial dysfunction.
Birth Defects Res A Clin Mol Teratol
; 91(3): 192-4, 2011 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21308977
16.
De novo deletion of chromosome 20q13.33 in a patient with tracheo-esophageal fistula, cardiac defects and genitourinary anomalies implicates GTPBP5 as a candidate gene.
Birth Defects Res A Clin Mol Teratol
; 91(9): 862-5, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21608104
17.
Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals.
J Med Genet
; 47(8): 513-24, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-19955556
18.
Current recommendations for the molecular evaluation of newly diagnosed holoprosencephaly patients.
Am J Med Genet C Semin Med Genet
; 154C(1): 93-101, 2010 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-20104604
19.
Holoprosencephaly flashcards: A summary for the clinician.
Am J Med Genet C Semin Med Genet
; 154C(1): 3-7, 2010 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-20104594
20.
Analysis of genotype-phenotype correlations in human holoprosencephaly.
Am J Med Genet C Semin Med Genet
; 154C(1): 133-41, 2010 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-20104608