Detalhe da pesquisa
1.
De novo missense variants in FBXO11 alter its protein expression and subcellular localization.
Hum Mol Genet
; 31(3): 440-454, 2022 02 03.
Artigo
Inglês
| MEDLINE | ID: mdl-34505148
2.
Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design.
Mov Disord
; 39(1): 141-151, 2024 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-37964426
3.
Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes.
Brain
; 2023 Dec 01.
Artigo
Inglês
| MEDLINE | ID: mdl-38038360
4.
DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes.
Am J Hum Genet
; 106(5): 596-610, 2020 05 07.
Artigo
Inglês
| MEDLINE | ID: mdl-32243864
5.
BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms.
Am J Hum Genet
; 107(6): 1096-1112, 2020 12 03.
Artigo
Inglês
| MEDLINE | ID: mdl-33232675
6.
ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizures.
Genet Med
; 25(12): 100971, 2023 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-37675773
7.
Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation study.
Genet Med
; 25(1): 37-48, 2023 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36322149
8.
A novel report of a fertile female with partial Y chromosome gain completing a healthy pregnancy.
Am J Med Genet A
; 191(12): 2884-2889, 2023 12.
Artigo
Inglês
| MEDLINE | ID: mdl-37638701
9.
Triplications of chromosome 1p36.3, including the genes GABRD and SKI, are associated with a developmental disorder and a facial gestalt.
Am J Med Genet A
; 191(7): 1889-1899, 2023 07.
Artigo
Inglês
| MEDLINE | ID: mdl-37129290
10.
Familial Bainbridge-Ropers syndrome: Report of familial ASXL3 inheritance and a milder phenotype.
Am J Med Genet A
; 191(1): 29-36, 2023 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-36177608
11.
Pathogenicity and selective constraint on variation near splice sites.
Genome Res
; 29(2): 159-170, 2019 02.
Artigo
Inglês
| MEDLINE | ID: mdl-30587507
12.
De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations.
Genet Med
; 24(9): 1952-1966, 2022 09.
Artigo
Inglês
| MEDLINE | ID: mdl-35916866
13.
HK1 haemolytic anaemia in association with a neurological phenotype and co-existing CEP290 Meckel-Gruber in a Romani family.
Clin Genet
; 101(1): 142-143, 2022 01.
Artigo
Inglês
| MEDLINE | ID: mdl-34532855
14.
De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder.
Am J Hum Genet
; 103(2): 305-316, 2018 08 02.
Artigo
Inglês
| MEDLINE | ID: mdl-30057029
15.
ANKRD11 variants: KBG syndrome and beyond.
Clin Genet
; 100(2): 187-200, 2021 08.
Artigo
Inglês
| MEDLINE | ID: mdl-33955014
16.
Delineating the Smith-Kingsmore syndrome phenotype: Investigation of 16 patients with the MTOR c.5395G > A p.(Glu1799Lys) missense variant.
Am J Med Genet A
; 185(8): 2445-2454, 2021 08.
Artigo
Inglês
| MEDLINE | ID: mdl-34032352
17.
Biallelic alterations in PLXND1 cause common arterial trunk and other cardiac malformations in humans.
Hum Mol Genet
; 32(3): 353-356, 2023 01 13.
Artigo
Inglês
| MEDLINE | ID: mdl-35396997
18.
De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome.
Am J Hum Genet
; 100(4): 650-658, 2017 Apr 06.
Artigo
Inglês
| MEDLINE | ID: mdl-28343630
19.
A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome.
Genet Med
; 22(5): 867-877, 2020 05.
Artigo
Inglês
| MEDLINE | ID: mdl-31949313
20.
Correction: A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome.
Genet Med
; 22(5): 980, 2020 May.
Artigo
Inglês
| MEDLINE | ID: mdl-32203228