Detalhe da pesquisa
1.
Spatial and temporal mapping of de novo mutations in schizophrenia to a fetal prefrontal cortical network.
Cell
; 154(3): 518-29, 2013 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23911319
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.
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
4.
Molecular diagnosis of childhood immune dysregulation, polyendocrinopathy, and enteropathy, and implications for clinical management.
J Allergy Clin Immunol
; 149(1): 327-339, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33864888
5.
CRISPR-Cas9/long-read sequencing approach to identify cryptic mutations in BRCA1 and other tumour suppressor genes.
J Med Genet
; 58(12): 850-852, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33060287
6.
Characterization of splice-altering mutations in inherited predisposition to cancer.
Proc Natl Acad Sci U S A
; 116(52): 26798-26807, 2019 Dec 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-31843900
7.
Inherited predisposition to malignant mesothelioma and overall survival following platinum chemotherapy.
Proc Natl Acad Sci U S A
; 116(18): 9008-9013, 2019 04 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-30975761
8.
Inherited thrombocytopenia associated with mutation of UDP-galactose-4-epimerase (GALE).
Hum Mol Genet
; 28(1): 133-142, 2019 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30247636
9.
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
10.
Reprogramming identifies functionally distinct stages of clonal evolution in myelodysplastic syndromes.
Blood
; 134(2): 186-198, 2019 07 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31010849
11.
De novo mutation in RING1 with epigenetic effects on neurodevelopment.
Proc Natl Acad Sci U S A
; 115(7): 1558-1563, 2018 02 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-29386386
12.
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
13.
A paradoxical genotype-phenotype relationship: Low level of GOSR2 translation from a non-AUG start codon in a family with profound hearing loss.
Hum Mol Genet
; 32(14): 2265-2268, 2023 07 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37074134
14.
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
15.
Bone marrow failure unresponsive to bone marrow transplant is caused by mutations in thrombopoietin.
Blood
; 130(7): 875-880, 2017 08 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-28559357
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.
Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.
Genet Med
; 20(10): 1175-1185, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29469822
18.
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
19.
Revisiting Genetic Testing for Patients with Negative Results: IPEX and FOXP3.
J Clin Immunol
; 42(6): 1164-1167, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35624357
20.
Mitochondrial serine protease HTRA2 p.G399S in a kindred with essential tremor and Parkinson disease.
Proc Natl Acad Sci U S A
; 111(51): 18285-90, 2014 Dec 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-25422467