Detalhe da pesquisa
1.
Disruptive CHD8 mutations define a subtype of autism early in development.
Cell
; 158(2): 263-276, 2014 Jul 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-24998929
2.
PRIM1 deficiency causes a distinctive primordial dwarfism syndrome.
Genes Dev
; 34(21-22): 1520-1533, 2020 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33060134
3.
Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders.
Am J Hum Genet
; 110(8): 1343-1355, 2023 08 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37541188
4.
Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease.
Brain
; 147(4): 1197-1205, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38141063
5.
Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design.
Mov Disord
; 39(1): 141-151, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37964426
6.
Genetic testing in motor neuron disease and frontotemporal dementia: a 5-year multicentre evaluation.
J Med Genet
; 59(6): 544-548, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33963046
7.
Expanding the phenotype of TAB2 variants and literature review.
Am J Med Genet A
; 188(11): 3331-3342, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35971781
8.
An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy.
Brain
; 144(2): 584-600, 2021 03 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33559681
9.
Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders.
Am J Hum Genet
; 102(1): 175-187, 2018 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29276005
10.
Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders.
Genet Med
; 23(10): 1912-1921, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34113010
11.
KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.
Brain
; 143(11): 3242-3261, 2020 12 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33150406
12.
De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome.
Am J Hum Genet
; 100(1): 138-150, 2017 Jan 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28017370
13.
Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features.
Brain
; 142(1): 59-69, 2019 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30561534
14.
NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses.
Brain
; 142(1): 50-58, 2019 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30576410
15.
Deep phenotyping of 14 new patients with IQSEC2 variants, including monozygotic twins of discordant phenotype.
Clin Genet
; 95(4): 496-506, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30666632
16.
De novo DDX3X missense variants in males appear viable and contribute to syndromic intellectual disability.
Am J Med Genet A
; 179(4): 570-578, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30734472
17.
PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.
J Med Genet
; 55(2): 104-113, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29097605
18.
Interstitial microdeletion of 17q11.2 is associated with hypotonia, fatigue, intellectual disability, and a subtle facial phenotype in three unrelated patients.
Am J Med Genet A
; 176(1): 209-213, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29130599
19.
Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing.
Prenat Diagn
; 38(1): 33-43, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29096039
20.
Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations.
Am J Med Genet A
; 170(12): 3069-3082, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27648933