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1.
Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease.
Am J Hum Genet
; 110(8): 1394-1413, 2023 08 03.
Article
in English
| MEDLINE | ID: mdl-37467750
2.
Exome variant discrepancies due to reference-genome differences.
Am J Hum Genet
; 108(7): 1239-1250, 2021 07 01.
Article
in English
| MEDLINE | ID: mdl-34129815
3.
High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population.
Am J Hum Genet
; 108(10): 1981-2005, 2021 10 07.
Article
in English
| MEDLINE | ID: mdl-34582790
4.
A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly.
Am J Med Genet A
; 191(3): 794-804, 2023 03.
Article
in English
| MEDLINE | ID: mdl-36598158
5.
Long read sequencing and expression studies of AHDC1 deletions in Xia-Gibbs syndrome reveal a novel genetic regulatory mechanism.
Hum Mutat
; 43(12): 2033-2053, 2022 12.
Article
in English
| MEDLINE | ID: mdl-36054313
6.
Phenotypic and mutational spectrum of ROR2-related Robinow syndrome.
Hum Mutat
; 43(7): 900-918, 2022 07.
Article
in English
| MEDLINE | ID: mdl-35344616
7.
Quantitative dissection of multilocus pathogenic variation in an Egyptian infant with severe neurodevelopmental disorder resulting from multiple molecular diagnoses.
Am J Med Genet A
; 188(3): 735-750, 2022 03.
Article
in English
| MEDLINE | ID: mdl-34816580
8.
Survival of human lymphoma cells requires B-cell receptor engagement by self-antigens.
Proc Natl Acad Sci U S A
; 112(44): 13447-54, 2015 Nov 03.
Article
in English
| MEDLINE | ID: mdl-26483459
9.
Defining and Reducing Variant Classification Disparities.
medRxiv
; 2024 Apr 12.
Article
in English
| MEDLINE | ID: mdl-38645101
10.
NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy.
Genome Med
; 16(1): 53, 2024 Apr 03.
Article
in English
| MEDLINE | ID: mdl-38570875
11.
Rare variant enrichment analysis supports GREB1L as a contributory driver gene in the etiology of Mayer-Rokitansky-Küster-Hauser syndrome.
HGG Adv
; 4(3): 100188, 2023 07 13.
Article
in English
| MEDLINE | ID: mdl-37124138
12.
The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation.
Genome Med
; 14(1): 122, 2022 10 27.
Article
in English
| MEDLINE | ID: mdl-36303224
13.
Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability.
HGG Adv
; 3(1): 100074, 2022 Jan 13.
Article
in English
| MEDLINE | ID: mdl-35047859
14.
AHDC1 missense mutations in Xia-Gibbs syndrome.
HGG Adv
; 2(4)2021 Oct 14.
Article
in English
| MEDLINE | ID: mdl-34950897
15.
An international virtual hackathon to build tools for the analysis of structural variants within species ranging from coronaviruses to vertebrates.
F1000Res
; 10: 246, 2021.
Article
in English
| MEDLINE | ID: mdl-34621504
16.
RNA Sequencing in B-Cell Lymphomas.
Methods Mol Biol
; 1956: 283-303, 2019.
Article
in English
| MEDLINE | ID: mdl-30779040
17.
Determination of molecular structures of HIV envelope glycoproteins using cryo-electron tomography and automated sub-tomogram averaging.
J Vis Exp
; (58)2011 Dec 01.
Article
in English
| MEDLINE | ID: mdl-22158337
18.
Shrewd AKT regulation to survive.
Oncoscience
; 1(2): 113-4, 2014.
Article
in English
| MEDLINE | ID: mdl-25594004
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