Detalhe da pesquisa
1.
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome.
Am J Hum Genet
; 111(1): 200-210, 2024 Jan 04.
Artigo
Inglês
| MEDLINE | ID: mdl-38118446
2.
Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome.
Am J Hum Genet
; 110(12): 2112-2119, 2023 Dec 07.
Artigo
Inglês
| MEDLINE | ID: mdl-37963460
3.
Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly.
Am J Hum Genet
; 109(10): 1909-1922, 2022 10 06.
Artigo
Inglês
| MEDLINE | ID: mdl-36044892
4.
Whole exome sequencing in Serbian patients with hereditary spastic paraplegia.
Neurogenetics
; 2024 Mar 19.
Artigo
Inglês
| MEDLINE | ID: mdl-38499745
5.
RABENOSYN separation-of-function mutations uncouple endosomal recycling from lysosomal degradation, causing a distinct Mendelian disorder.
Hum Mol Genet
; 31(21): 3729-3740, 2022 10 28.
Artigo
Inglês
| MEDLINE | ID: mdl-35652444
6.
De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy.
Am J Hum Genet
; 108(7): 1330-1341, 2021 07 01.
Artigo
Inglês
| MEDLINE | ID: mdl-34102099
7.
A novel heterozygous truncating variant in the AGO1 gene in an Iranian family with schizophrenia as an unreported symptom.
Ann Hum Genet
; 87(6): 295-301, 2023 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-37589173
8.
Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing.
Am J Hum Genet
; 107(3): 544-554, 2020 09 03.
Artigo
Inglês
| MEDLINE | ID: mdl-32730804
9.
Disseminated Coccidioidomycosis Treated with Interferon-γ and Dupilumab.
N Engl J Med
; 382(24): 2337-2343, 2020 06 11.
Artigo
Inglês
| MEDLINE | ID: mdl-32521134
10.
Mitchell-Riley syndrome iPSCs exhibit reduced pancreatic endoderm differentiation due to a mutation in RFX6.
Development
; 147(21)2020 11 05.
Artigo
Inglês
| MEDLINE | ID: mdl-33033118
11.
LONG-TERM CLINICAL OUTCOMES AND GENOTYPE-PHENOTYPE CORRELATION IN FAMILIAL EXUDATIVE VITREORETINOPATHY IN A TERTIARY REFERRAL CENTER.
Retina
; 43(11): 1945-1950, 2023 11 01.
Artigo
Inglês
| MEDLINE | ID: mdl-37339455
12.
Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.
Mol Med
; 28(1): 38, 2022 03 26.
Artigo
Inglês
| MEDLINE | ID: mdl-35346031
13.
Case report: novel PCDH15 variant causes usher syndrome type 1F with congenital hearing loss and syndromic retinitis pigmentosa.
BMC Ophthalmol
; 22(1): 441, 2022 Nov 16.
Artigo
Inglês
| MEDLINE | ID: mdl-36384460
14.
Congenital Stationary Night Blindness: Clinical and Genetic Features.
Int J Mol Sci
; 23(23)2022 Nov 29.
Artigo
Inglês
| MEDLINE | ID: mdl-36499293
15.
Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism.
Am J Hum Genet
; 103(6): 948-967, 2018 12 06.
Artigo
Inglês
| MEDLINE | ID: mdl-30526868
16.
Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases.
Genet Med
; 23(6): 1075-1085, 2021 06.
Artigo
Inglês
| MEDLINE | ID: mdl-33580225
17.
Segmental overgrowth and aneurysms due to mosaic PDGFRB p.(Tyr562Cys).
Am J Med Genet A
; 185(5): 1430-1436, 2021 05.
Artigo
Inglês
| MEDLINE | ID: mdl-33683022
18.
Expansion of NEUROD2 phenotypes to include developmental delay without seizures.
Am J Med Genet A
; 185(4): 1076-1080, 2021 04.
Artigo
Inglês
| MEDLINE | ID: mdl-33438828
19.
Correction: U87MG Decoded: The Genomic Sequence of a Cytogenetically Aberrant Human Cancer Cell Line.
PLoS Genet
; 14(5): e1007392, 2018 05.
Artigo
Inglês
| MEDLINE | ID: mdl-29768410
20.
A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders.
Hum Mutat
; 41(2): 487-501, 2020 02.
Artigo
Inglês
| MEDLINE | ID: mdl-31692161