Detalhe da pesquisa
1.
Intellectual disability syndrome associated with a homozygous founder variant in SGSM3 in Ashkenazi Jews.
J Med Genet
; 61(3): 289-293, 2024 Feb 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37833060
2.
Exploring the factors affecting classification and reporting of uncertain prenatal microarray findings, using a "virtual fetus" model-a pilot study.
Prenat Diagn
; 44(4): 511-518, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38353311
3.
Detection of copy number variants associated with late-onset conditions in ~16 200 pregnancies: parameters for disclosure and pregnancy outcome.
J Med Genet
; 60(1): 99-105, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35264407
4.
Clinically Complex LRBA Deficiency Due to a Founder Allele in the Georgian Jewish Population.
J Clin Immunol
; 43(1): 151-164, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36063261
5.
Diagnostic yield of chromosomal microarray and trio whole exome sequencing in cryptogenic cerebral palsy.
J Med Genet
; 59(8): 759-767, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34321325
6.
Combining cytogenetic and genomic technologies for deciphering challenging complex chromosomal rearrangements.
Mol Genet Genomics
; 297(4): 925-933, 2022 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-35488049
7.
Carrier screening for Krabbe disease in an isolated inbred community.
Am J Med Genet A
; 188(9): 2555-2559, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35775617
8.
Essential Role of BRCA2 in Ovarian Development and Function.
N Engl J Med
; 379(11): 1042-1049, 2018 09 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-30207912
9.
Expanded clinical validation of Haploseek for comprehensive preimplantation genetic testing.
Genet Med
; 23(7): 1334-1340, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33772222
10.
The yield of chromosomal microarray in pregnancies with congenital cardiac defects and normal noninvasive prenatal screening.
Am J Obstet Gynecol
; 225(3): 333.e1-333.e14, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34052193
11.
The role of orotic acid measurement in routine newborn screening for urea cycle disorders.
J Inherit Metab Dis
; 44(3): 606-617, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33190319
12.
Preimplantation genetic testing (PGT) for copy number variants of uncertain significance (CNV- VUS) in the genomic era: to do or not to do?
J Assist Reprod Genet
; 38(3): 719-725, 2021 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-33443723
13.
A defect in GPI synthesis as a suggested mechanism for the role of ARV1 in intellectual disability and seizures.
Neurogenetics
; 21(4): 259-267, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32462292
14.
Haploseek: a 24-hour all-in-one method for preimplantation genetic diagnosis (PGD) of monogenic disease and aneuploidy.
Genet Med
; 21(6): 1390-1399, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30449887
15.
An immune tolerance approach using transient low-dose methotrexate in the ERT-naïve setting of patients treated with a therapeutic protein: experience in infantile-onset Pompe disease.
Genet Med
; 21(4): 887-895, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30214072
16.
Mitochondrial PITRM1 peptidase loss-of-function in childhood cerebellar atrophy.
J Med Genet
; 55(9): 599-606, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29764912
17.
Chromosomal microarray findings in pregnancies with an isolated pelvic kidney.
J Perinat Med
; 47(1): 30-34, 2018 Dec 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-29813032
18.
Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy.
N Engl J Med
; 370(10): 921-31, 2014 Mar 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-24552285
19.
Exome sequencing in Jewish and Arab patients with rhabdomyolysis reveals single-gene etiology in 43% of cases.
Pediatr Nephrol
; 32(12): 2273-2282, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-28779239
20.
Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen.
Hum Mol Genet
; 22(1): 1-17, 2013 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22949511