Detalhe da pesquisa
1.
Genomic analysis of inherited hearing loss in the Palestinian population.
Proc Natl Acad Sci U S A
; 117(33): 20070-20076, 2020 08 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-32747562
2.
The noncoding genome and hearing loss.
Hum Genet
; 141(3-4): 323-333, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-34491412
3.
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
4.
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
5.
Inclusion of hemimegalencephaly into the phenotypic spectrum of NPRL3 pathogenic variants in familial focal epilepsy with variable foci.
Epilepsia
; 60(6): e67-e73, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31111464
6.
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
7.
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
8.
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
9.
Helicase-inactivating BRIP1 mutation yields Fanconi anemia with microcephaly and other congenital abnormalities.
Cold Spring Harb Mol Case Stud
; 6(5)2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33028645
10.
The combination of whole-exome sequencing and clinical analysis allows better diagnosis of rare syndromic retinal dystrophies.
Acta Ophthalmol
; 97(6): e877-e886, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-30925032
11.
Mutation of KREMEN1, a modulator of Wnt signaling, is responsible for ectodermal dysplasia including oligodontia in Palestinian families.
Eur J Hum Genet
; 24(10): 1430-5, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27049303
12.
Loss of function of PCDH12 underlies recessive microcephaly mimicking intrauterine infection.
Neurology
; 86(21): 2016-24, 2016 05 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-27164683