Detalhe da pesquisa
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-37467750
2.
HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data.
Nucleic Acids Res
; 52(4): e18, 2024 Feb 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-38153174
3.
A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode.
Am J Hum Genet
; 109(9): 1713-1723, 2022 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35948005
4.
TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions.
Am J Hum Genet
; 109(12): 2270-2282, 2022 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36368327
5.
High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population.
Am J Hum Genet
; 108(10): 1981-2005, 2021 10 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34582790
6.
Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia.
Ann Neurol
; 92(2): 304-321, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35471564
7.
A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly.
Am J Med Genet A
; 191(3): 794-804, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36598158
8.
Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking.
J Inherit Metab Dis
; 46(6): 1195-1205, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37711075
9.
Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy.
Brain
; 145(3): 909-924, 2022 04 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-34605855
10.
Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders.
Am J Hum Genet
; 105(5): 1005-1015, 2019 11 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31630790
11.
The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance.
Am J Hum Genet
; 105(1): 132-150, 2019 07 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31230720
12.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-34816580
13.
Novel RETREG1 (FAM134B) founder allele is linked to HSAN2B and renal disease in a Turkish family.
Am J Med Genet A
; 188(7): 2153-2161, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35332675
14.
Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles.
Am J Hum Genet
; 103(2): 171-187, 2018 08 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30032986
15.
Biallelic loss-of-function variants in the splicing regulator NSRP1 cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsy.
Genet Med
; 23(12): 2455-2460, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34385670
16.
Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies.
Genet Med
; 23(9): 1715-1725, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34054129
17.
Risk of sudden cardiac death in EXOSC5-related disease.
Am J Med Genet A
; 185(8): 2532-2540, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34089229
18.
A novel homozygous SLC13A5 whole-gene deletion generated by Alu/Alu-mediated rearrangement in an Iraqi family with epileptic encephalopathy.
Am J Med Genet A
; 185(7): 1972-1980, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33797191
19.
Neurodevelopmental disorder in an Egyptian family with a biallelic ALKBH8 variant.
Am J Med Genet A
; 185(4): 1288-1293, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33544954
20.
Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability.
Brain
; 143(1): 112-130, 2020 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31794024