Detalhe da pesquisa
1.
The New York pilot newborn screening program for lysosomal storage diseases: Report of the First 65,000 Infants.
Genet Med
; 21(3): 631-640, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30093709
2.
A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects.
PLoS Genet
; 12(4): e1005848, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-27120463
3.
Liquid Chromatography-Tandem Mass Spectrometry Assay of Leukocyte Acid α-Glucosidase for Post-Newborn Screening Evaluation of Pompe Disease.
Clin Chem
; 63(4): 842-851, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28196920
4.
An Ashkenazi Jewish SMN1 haplotype specific to duplication alleles improves pan-ethnic carrier screening for spinal muscular atrophy.
Genet Med
; 16(2): 149-56, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23788250
5.
The Ashkenazi Jewish carrier screening panel: evolution, status quo, and disparities.
Prenat Diagn
; 34(12): 1161-7, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24996053
6.
Localization of BRCA1 protein in breast cancer tissue and cell lines with mutations.
Cancer Cell Int
; 13(1): 70, 2013 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23855721
7.
Nemaline myopathy: reclassification of previously reported variants according to ACMG guidelines, and report of novel genetic variants.
Eur J Hum Genet
; 31(11): 1237-1250, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37460656
8.
Clinical Pharmacogenomic MT-RNR1 Screening for Aminoglycoside-Induced Ototoxicity and the Post-Test Counseling Conundrum.
Clin Pharmacol Ther
; 114(2): 262-265, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37314952
9.
Warfarin pharmacogenetics: CYP2C9 and VKORC1 genotypes predict different sensitivity and resistance frequencies in the Ashkenazi and Sephardi Jewish populations.
Am J Hum Genet
; 82(2): 495-500, 2008 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-18252229
10.
Tay-Sachs disease in an Arab family due to c.78G>A HEXA nonsense mutation encoding a p.W26X early truncation enzyme peptide.
Mol Genet Metab
; 104(4): 700-2, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-21967858
11.
Identification of two HEXA mutations causing infantile-onset Tay-Sachs disease in the Persian population.
J Hum Genet
; 56(9): 682-4, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21796138
12.
Development and Analytical Validation of a 29 Gene Clinical Pharmacogenetic Genotyping Panel: Multi-Ethnic Allele and Copy Number Variant Detection.
Clin Transl Sci
; 14(1): 204-213, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32931151
13.
Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases.
Hum Mutat
; 31(11): 1240-50, 2010 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-20672374
14.
Gaucher disease ascertained through a Parkinson's center: imaging and clinical characterization.
Mov Disord
; 25(10): 1364-72, 2010 Jul 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-20629126
15.
Lessons learned from expanded reproductive carrier screening in self-reported Ashkenazi, Sephardi, and Mizrahi Jewish patients.
Mol Genet Genomic Med
; 8(2): e1053, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31880409
16.
Prenatal Diagnosis of Cystic Fibrosis.
Methods Mol Biol
; 1885: 221-231, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30506201
17.
Prenatal Diagnosis of Tay-Sachs Disease.
Methods Mol Biol
; 1885: 233-250, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30506202
18.
Clinical Genetic Testing for Fragile X Syndrome by Polymerase Chain Reaction Amplification and Southern Blot Analyses.
Methods Mol Biol
; 1942: 11-27, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30900172
19.
Integrated CYP2D6 interrogation for multiethnic copy number and tandem allele detection.
Pharmacogenomics
; 20(1): 9-20, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30730286
20.
Genetic identification of a common collagen disease in puerto ricans via identity-by-descent mapping in a health system.
Elife
; 62017 09 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28895531