Detalhe da pesquisa
1.
Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions.
Cell
; 161(5): 1012-1025, 2015 May 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-25959774
2.
Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.
Nature
; 614(7948): 564-571, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36755093
3.
RNA analysis and computer-aided facial phenotyping help to classify a novel TRIO splice site variant.
Am J Med Genet A
; : e63599, 2024 Mar 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38517182
4.
Bi-allelic loss-of-function variants in KIF21A cause severe fetal akinesia with arthrogryposis multiplex.
J Med Genet
; 60(1): 48-56, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34740919
5.
A CRISPR-Cas9-engineered mouse model for GPI-anchor deficiency mirrors human phenotypes and exhibits hippocampal synaptic dysfunctions.
Proc Natl Acad Sci U S A
; 118(2)2021 01 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33402532
6.
Validation of 3 Computer-Aided Facial Phenotyping Tools (DeepGestalt, GestaltMatcher, and D-Score): Comparative Diagnostic Accuracy Study.
J Med Internet Res
; 26: e42904, 2024 Mar 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38477981
7.
ClearCNV: CNV calling from NGS panel data in the presence of ambiguity and noise.
Bioinformatics
; 38(16): 3871-3876, 2022 08 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35751599
8.
HOXD13-associated synpolydactyly: Extending and validating the genotypic and phenotypic spectrum with 38 new and 49 published families.
Genet Med
; 25(11): 100928, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37427568
9.
Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta.
Genet Med
; 25(8): 100856, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37092537
10.
Fatal congenital copper transport defect caused by a homozygous likely pathogenic variant of SLC31A1.
Clin Genet
; 103(5): 585-589, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36562171
11.
Novel noncanonical splice site variant causes mild CHD7-related disorder with variable intrafamilial expressivity.
Am J Med Genet A
; 191(4): 1128-1132, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36708132
12.
Primidone improves symptoms in TRPM3-linked developmental and epileptic encephalopathy with spike-and-wave activation in sleep.
Epilepsia
; 64(5): e61-e68, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36929095
13.
Biallelic truncating variants in ATP9A cause a novel neurodevelopmental disorder involving postnatal microcephaly and failure to thrive.
J Med Genet
; 59(7): 662-668, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34379057
14.
Transmission ratio distortion of mutations in the master regulator of centriole biogenesis PLK4.
Hum Genet
; 141(11): 1785-1794, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-35536377
15.
Mutations in PIGU Impair the Function of the GPI Transamidase Complex, Causing Severe Intellectual Disability, Epilepsy, and Brain Anomalies.
Am J Hum Genet
; 105(2): 395-402, 2019 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31353022
16.
Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders.
Am J Hum Genet
; 105(3): 631-639, 2019 09 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31353024
17.
Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis.
Genet Med
; 24(10): 2187-2193, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35962790
18.
Recognizable Pattern of Arthrogryposis and Congenital Myopathy Caused by the Recurrent TTN Metatranscript-only c.39974-11T > G Splice Variant.
Neuropediatrics
; 53(5): 309-320, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35605965
19.
Differential diagnosis of syndromic craniosynostosis: a case series.
Arch Gynecol Obstet
; 306(1): 49-57, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34633507
20.
Clinically Relevant KCNQ1 Variants Causing KCNQ1-KCNE2 Gain-of-Function Affect the Ca2+ Sensitivity of the Channel.
Int J Mol Sci
; 23(17)2022 Aug 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-36077086