Detalhe da pesquisa
1.
Bi-allelic variants in INTS11 are associated with a complex neurological disorder.
Am J Hum Genet
; 110(5): 774-789, 2023 05 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37054711
2.
Exploring inheritance, and clinical penetrance of distal Xq28 duplication syndrome: insights from 47 new unpublished cases.
J Hum Genet
; 2024 Apr 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38632380
3.
A de novo pathogenic variant in DHX30 gene in a fetus with isolated dysgenesis of the corpus callosum.
Prenat Diagn
; 44(3): 357-359, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38366977
4.
Exome sequencing in every pregnancy? Results of trio exome sequencing in structurally normal fetuses.
Prenat Diagn
; 2024 May 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38735835
5.
Proximal 1q21 duplication: A syndrome or a susceptibility locus?
Am J Med Genet A
; 191(10): 2551-2557, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37357910
6.
Autosomal dominant non-syndromic hearing loss maps to DFNA33 (13q34) and co-segregates with splice and frameshift variants in ATP11A, a phospholipid flippase gene.
Hum Genet
; 141(3-4): 431-444, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-35278131
7.
High rate of abnormal findings in Prenatal Exome Trio in low risk pregnancies and apparently normal fetuses.
Prenat Diagn
; 42(6): 725-735, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34918830
8.
A New BCl6 Transcriptional Corepressor Variant Mosaicism in a Fetus with Severe Fetal-Eye Anomalies.
Fetal Diagn Ther
; 49(3): 114-116, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35358978
9.
A study of normal copy number variations in Israeli population.
Hum Genet
; 140(3): 553-563, 2021 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-32980975
10.
The phenotype of 15 cases with rare 8q24.13-q24.3 deletions-A new syndrome or still an enigma?
Am J Med Genet A
; 185(5): 1461-1467, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33619900
11.
Teaching clinicians practical genomic medicine: 7 years' experience in a tertiary care center.
Genet Med
; 22(10): 1703-1709, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32616942
12.
Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1.
Clin Genet
; 98(4): 353-364, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33111345
13.
Grandparental genotyping enhances exome variant interpretation.
Am J Med Genet A
; 182(4): 689-696, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32027463
14.
Biallelic mutations in EXOC3L2 cause a novel syndrome that affects the brain, kidney and blood.
J Med Genet
; 56(5): 340-346, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30327448
15.
The yield of full BRCA1/2 genotyping in Israeli Arab high-risk breast/ovarian cancer patients.
Breast Cancer Res Treat
; 178(1): 231-237, 2019 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-31368036
16.
Progressive Pseudorheumatoid Dysplasia resolved by whole exome sequencing: a novel mutation in WISP3 and review of the literature.
BMC Med Genet
; 20(1): 53, 2019 03 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-30922245
17.
The yield of full BRCA1/2 genotyping in Israeli high-risk breast/ovarian cancer patients who do not carry the predominant mutations.
Breast Cancer Res Treat
; 172(1): 151-157, 2018 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-30014164
18.
When genotype is not predictive of phenotype: implications for genetic counseling based on 21,594 chromosomal microarray analysis examinations.
Genet Med
; 20(1): 128-131, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28726807
19.
Mild aniridia phenotype: an under-recognized diagnosis of a severe inherited ocular disease.
Graefes Arch Clin Exp Ophthalmol
; 256(11): 2157-2164, 2018 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-30167917
20.
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