Detalhe da pesquisa
1.
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Am J Hum Genet
; 111(1): 96-118, 2024 Jan 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38181735
2.
Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features.
Hum Mol Genet
; 32(20): 2981-2995, 2023 Oct 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37531237
3.
Next-generation phenotyping contributing to the identification of a 4.7 kb deletion in KANSL1 causing Koolen-de Vries syndrome.
Hum Mutat
; 43(11): 1659-1665, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36104871
4.
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Am J Hum Genet
; 111(4): 805, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38508193
5.
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Am J Hum Genet
; 2024 May 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38723631
6.
Adult-Onset Neurodegeneration in Nucleotide Excision Repair Disorders (NERDND ): Time to Move Beyond the Skin.
Mov Disord
; 37(8): 1707-1718, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35699229
7.
De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.
Am J Hum Genet
; 102(6): 1195-1203, 2018 06 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29861108
8.
New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics.
Genet Med
; 23(3): 543-554, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33149277
9.
Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability.
Am J Hum Genet
; 100(2): 257-266, 2017 02 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28132689
10.
Nine newly identified individuals refine the phenotype associated with MYT1L mutations.
Am J Med Genet A
; 182(5): 1021-1031, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32065501
11.
PEDIA: prioritization of exome data by image analysis.
Genet Med
; 21(12): 2807-2814, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31164752
12.
De novo FBXO11 mutations are associated with intellectual disability and behavioural anomalies.
Hum Genet
; 137(5): 401-411, 2018 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-29796876
13.
De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment.
Am J Hum Genet
; 97(3): 493-500, 2015 Sep 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26340335
14.
De novo microdeletions and point mutations affecting SOX2 in three individuals with intellectual disability but without major eye malformations.
Am J Med Genet A
; 173(2): 435-443, 2017 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-27862890
15.
Array-based molecular karyotyping in fetal brain malformations: Identification of novel candidate genes and chromosomal regions.
Birth Defects Res A Clin Mol Teratol
; 106(1): 16-26, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26680650
16.
De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum.
Hum Genet
; 134(1): 97-109, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25326669
17.
Mutations in NSUN2 cause autosomal-recessive intellectual disability.
Am J Hum Genet
; 90(5): 847-55, 2012 May 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-22541559
18.
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.
Lancet
; 380(9854): 1674-82, 2012 Nov 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-23020937
19.
Variants in FGF10 cause early onset of severe childhood interstitial lung disease: A detailed description of four affected children.
Pediatr Pulmonol
; 58(11): 3095-3105, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37560881
20.
Rare variants in PPFIA3 cause delayed development, intellectual disability, autism, and epilepsy.
medRxiv
; 2023 Mar 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-37034625