Detalhe da pesquisa
1.
Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation.
Am J Hum Genet
; 108(6): 1126-1137, 2021 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34010604
2.
Bi-allelic Pathogenic Variants in HS2ST1 Cause a Syndrome Characterized by Developmental Delay and Corpus Callosum, Skeletal, and Renal Abnormalities.
Am J Hum Genet
; 107(6): 1044-1061, 2020 12 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33159882
3.
Biallelic FRA10AC1 variants cause a neurodevelopmental disorder with growth retardation.
Brain
; 145(4): 1551-1563, 2022 05 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-34694367
4.
Gain-of-Function Mutations in KCNN3 Encoding the Small-Conductance Ca2+-Activated K+ Channel SK3 Cause Zimmermann-Laband Syndrome.
Am J Hum Genet
; 104(6): 1139-1157, 2019 06 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31155282
5.
Biallelic variants in VPS50 cause a neurodevelopmental disorder with neonatal cholestasis.
Brain
; 144(10): 3036-3049, 2021 11 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-34037727
6.
CACNA1I gain-of-function mutations differentially affect channel gating and cause neurodevelopmental disorders.
Brain
; 144(7): 2092-2106, 2021 08 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-33704440
7.
Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.
Brain
; 143(8): 2437-2453, 2020 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32761064
8.
Roberts syndrome in an Indian patient with humeroradial synostosis, congenital elbow contractures and a novel homozygous splice variant in ESCO2.
Am J Med Genet A
; 182(11): 2793-2796, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32783269
9.
Novel biallelic variants expand the SLC5A6-related phenotypic spectrum.
Eur J Hum Genet
; 30(4): 439-449, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35013551
10.
Clinically relevant variants in a large cohort of Indian patients with Marfan syndrome and related disorders identified by next-generation sequencing.
Sci Rep
; 11(1): 764, 2021 01 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33436942
11.
de novo MEPCE nonsense variant associated with a neurodevelopmental disorder causes disintegration of 7SK snRNP and enhanced RNA polymerase II activation.
Sci Rep
; 9(1): 12516, 2019 08 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-31467394