Detalhe da pesquisa
1.
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
2.
Temperature-dependent autoactivation associated with clinical variability of PDGFRB Asn666 substitutions.
Hum Mol Genet
; 30(1): 72-77, 2021 03 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-33450762
3.
Deep exploration of a CDKN1C mutation causing a mixture of Beckwith-Wiedemann and IMAGe syndromes revealed a novel transcript associated with developmental delay.
J Med Genet
; 59(2): 155-164, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33443097
4.
The Discovery of a LEMD2-Associated Nuclear Envelopathy with Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial Phenotyping.
Am J Hum Genet
; 104(4): 749-757, 2019 04 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30905398
5.
Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons.
Am J Hum Genet
; 104(5): 815-834, 2019 05 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31031012
6.
PIEZO2-related distal arthrogryposis type 5: Longitudinal follow-up of a three-generation family broadens phenotypic spectrum, complications, and health surveillance recommendations for this patient group.
Am J Med Genet A
; 188(9): 2790-2795, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35698866
7.
Truncating and zinc-finger variants in GLI2 are associated with hypopituitarism.
Am J Med Genet A
; 188(4): 1065-1074, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34921505
8.
Formation of new chromatin domains determines pathogenicity of genomic duplications.
Nature
; 538(7624): 265-269, 2016 Oct 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-27706140
9.
The spectrum of heart defects in the TRAF7-related multiple congenital anomalies-intellectual disability syndrome.
Proc Natl Acad Sci U S A
; 121(12): e2317601121, 2024 Mar 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38466850
10.
Recurrent, Activating Variants in the Receptor Tyrosine Kinase DDR2 Cause Warburg-Cinotti Syndrome.
Am J Hum Genet
; 103(6): 976-983, 2018 12 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30449416
11.
Protein Phosphatase 2A (PP2A) mutations in brain function, development, and neurologic disease.
Biochem Soc Trans
; 49(4): 1567-1588, 2021 08 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-34241636
12.
Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes.
Genet Med
; 23(7): 1315-1324, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33864021
13.
De novo variants in SUPT16H cause neurodevelopmental disorders associated with corpus callosum abnormalities.
J Med Genet
; 57(7): 461-465, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31924697
14.
Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype.
Am J Hum Genet
; 101(5): 824-832, 2017 Nov 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29106825
15.
Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.
Genet Med
; 22(7): 1215-1226, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32376980
16.
Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita.
Hum Mutat
; 40(12): 2270-2285, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31206972
17.
Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability.
J Med Genet
; 55(1): 28-38, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29021403
18.
NAA10 dysfunction with normal NatA-complex activity in a girl with non-syndromic ID and a de novo NAA10 p.(V111G) variant - a case report.
BMC Med Genet
; 19(1): 47, 2018 03 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-29558889
19.
Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome.
Am J Med Genet A
; 176(4): 862-876, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29460469
20.
Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature.
Am J Med Genet A
; 176(11): 2259-2275, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30194818