Detalhe da pesquisa
1.
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
2.
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
3.
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
4.
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
5.
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
6.
The novel R211Q POP1 homozygous mutation causes different pathogenesis and skeletal changes from those of previously reported POP1-associated anauxetic dysplasia.
Am J Med Genet A
; 182(5): 1268-1272, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32134183
7.
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
8.
Genomic analysis of inherited breast cancer among Palestinian women: Genetic heterogeneity and a founder mutation in TP53.
Int J Cancer
; 141(4): 750-756, 2017 08 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28486781
9.
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
10.
Population-based screening for breast and ovarian cancer risk due to BRCA1 and BRCA2.
Proc Natl Acad Sci U S A
; 111(39): 14205-10, 2014 Sep 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-25192939
11.
The spinal muscular atrophy with pontocerebellar hypoplasia gene VRK1 regulates neuronal migration through an amyloid-ß precursor protein-dependent mechanism.
J Neurosci
; 35(3): 936-42, 2015 Jan 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-25609612
12.
Combined mineralocorticoid and glucocorticoid deficiency is caused by a novel founder nicotinamide nucleotide transhydrogenase mutation that alters mitochondrial morphology and increases oxidative stress.
J Med Genet
; 52(9): 636-41, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26070314
13.
Minichromosome maintenance complex component 8 (MCM8) gene mutations result in primary gonadal failure.
J Med Genet
; 52(6): 391-9, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25873734
14.
Preimplantation genetic risk reduction: a new dilemma in the era of chromosomal microarrays and exome sequencing.
Reprod Biomed Online
; 31(5): 706-10, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26380867
15.
Rac1 Polymorphisms and Thiopurine Efficacy in Children With Inflammatory Bowel Disease.
J Pediatr Gastroenterol Nutr
; 61(4): 404-7, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25885881
16.
XX ovarian dysgenesis is caused by a PSMC3IP/HOP2 mutation that abolishes coactivation of estrogen-driven transcription.
Am J Hum Genet
; 89(4): 572-9, 2011 Oct 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-21963259
17.
Thiopurine S-methyltransferase (TPMT) activity is better determined by biochemical assay versus genotyping in the Jewish population.
Dig Dis Sci
; 59(6): 1207-12, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24390675
18.
Using multi-scale genomics to associate poorly annotated genes with rare diseases.
Genome Med
; 16(1): 4, 2024 Jan 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38178268
19.
Preimplantation genetic diagnosis in genomic regions with duplications and pseudogenes: long-range PCR in the single-cell assay.
Hum Mutat
; 34(5): 792-9, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23420578
20.
SHaploseek is a sequencing-only, high-resolution method for comprehensive preimplantation genetic testing.
Sci Rep
; 13(1): 18036, 2023 10 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37865712