Detalhe da pesquisa
1.
Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy.
Am J Hum Genet
; 110(1): 120-145, 2023 01 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36528028
2.
Neurodevelopmental disorder mutations in the purine biosynthetic enzyme IMPDH2 disrupt its allosteric regulation.
J Biol Chem
; 299(8): 105012, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37414152
3.
Biallelic variants in GTF3C5, a regulator of RNA polymerase III-mediated transcription, cause a multisystem developmental disorder.
Hum Genet
; 143(3): 437-453, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38520561
4.
Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation.
Am J Hum Genet
; 108(7): 1342-1349, 2021 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34143952
5.
Diagnostic Yield of Exome Sequencing in Pediatric Cardiomyopathy.
J Pediatr
; 265: 113808, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37923198
6.
Unmasking the challenges of Kabuki syndrome in adulthood: A case series.
Am J Med Genet C Semin Med Genet
; 193(2): 128-138, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37296540
7.
Nuclear speckleopathies: developmental disorders caused by variants in genes encoding nuclear speckle proteins.
Hum Genet
; 2023 Mar 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-36929417
8.
Dominant-negative variants in CBX1 cause a neurodevelopmental disorder.
Genet Med
; 25(7): 100861, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37087635
9.
Expansion of clinical and variant spectrum of EEF2-related neurodevelopmental disorder: Report of two additional cases.
Am J Med Genet A
; 191(10): 2602-2609, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37159414
10.
Retrospective identification of patients with SRRM2-related neurodevelopmental disorder in a single tertiary children's hospital.
Am J Med Genet A
; 191(8): 2149-2155, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37212523
11.
Expanding the reproductive organ phenotype of CHD7-spectrum disorder.
Am J Med Genet A
; 191(5): 1418-1424, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36794641
12.
The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder.
Hum Mutat
; 43(2): 266-282, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34859529
13.
A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies.
Am J Hum Genet
; 104(4): 596-610, 2019 04 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30879640
14.
Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment.
Am J Hum Genet
; 105(5): 987-995, 2019 11 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31587868
15.
De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder.
Am J Hum Genet
; 105(2): 403-412, 2019 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31303265
16.
Expanding the phenotypic spectrum of ARCN1-related syndrome.
Genet Med
; 24(6): 1227-1237, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35300924
17.
Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder.
Genet Med
; 24(8): 1774-1780, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35567594
18.
Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants.
Genet Med
; 24(11): 2351-2366, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36083290
19.
Inborn error of metabolism patients after liver transplantation: Outcomes of 35 patients over 27 years in one pediatric quaternary hospital.
Am J Med Genet A
; 188(5): 1443-1447, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35068050
20.
MYH7 variants cause complex congenital heart disease.
Am J Med Genet A
; 188(9): 2772-2776, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35491958