Detalhe da pesquisa
1.
Impaired Amino Acid Transport at the Blood Brain Barrier Is a Cause of Autism Spectrum Disorder.
Cell
; 167(6): 1481-1494.e18, 2016 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27912058
2.
CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration.
Cell
; 157(3): 651-63, 2014 Apr 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-24766810
3.
Pleiotropic role of TRAF7 in skull-base meningiomas and congenital heart disease.
Proc Natl Acad Sci U S A
; 120(16): e2214997120, 2023 04 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-37043537
4.
TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions.
Brain
; 147(1): 311-324, 2024 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37713627
5.
Biallelic frameshift variants in PHLDB1 cause mild-type osteogenesis imperfecta with regressive spondylometaphyseal changes.
J Med Genet
; 60(8): 819-826, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36543534
6.
The genetic structure of the Turkish population reveals high levels of variation and admixture.
Proc Natl Acad Sci U S A
; 118(36)2021 09 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34426522
7.
Integrated mutational landscape analysis of uterine leiomyosarcomas.
Proc Natl Acad Sci U S A
; 118(15)2021 04 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-33876771
8.
Biallelic BICD2 variant is a novel candidate for Cohen-like syndrome.
J Hum Genet
; 67(9): 553-556, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-35338243
9.
D-bifunctional protein deficiency caused by splicing variants in a neonate with severe peroxisomal dysfunction and persistent hypoglycemia.
Am J Med Genet A
; 188(1): 357-363, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34623748
10.
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
Brain
; 144(5): 1422-1434, 2021 06 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-33970200
11.
Reply to Pisan et al.: Pathogenicity of inherited TRAF7 mutations in congenital heart disease.
Proc Natl Acad Sci U S A
; 121(12): e2319578121, 2024 Mar 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38466853
12.
Whole-exome sequencing of cervical carcinomas identifies activating ERBB2 and PIK3CA mutations as targets for combination therapy.
Proc Natl Acad Sci U S A
; 116(45): 22730-22736, 2019 11 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31624127
13.
Further delineation of familial polycystic ovary syndrome (PCOS) via whole-exome sequencing: PCOS-related rare FBN3 and FN1 gene variants are identified.
J Obstet Gynaecol Res
; 48(5): 1202-1211, 2022 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-35141985
14.
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.
Am J Hum Genet
; 103(5): 666-678, 2018 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30343943
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.
METAP1 mutation is a novel candidate for autosomal recessive intellectual disability.
J Hum Genet
; 66(2): 215-218, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-32764695
17.
Resolution of sclerotic lesions of dysosteosclerosis due to biallelic SLC29A3 variant in a Turkish girl.
Am J Med Genet A
; 185(7): 2271-2277, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33837634
18.
Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome.
Am J Med Genet A
; 185(1): 119-133, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33098347
19.
ALG13 X-linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes.
J Inherit Metab Dis
; 44(4): 1001-1012, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33734437
20.
Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy.
Brain
; 143(5): 1447-1461, 2020 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32282878