Detalhe da pesquisa
1.
Delineation of the adult phenotype of Coffin-Siris syndrome in 35 individuals.
Hum Genet
; 143(1): 71-84, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38117302
2.
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.
Am J Hum Genet
; 108(5): 857-873, 2021 05 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33961779
3.
Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individuals.
Genet Med
; 26(1): 101007, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37860968
4.
Possible incomplete penetrance of Xq28 int22h-1/int22h-2 duplication.
Clin Genet
; 2024 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38561231
5.
Clinical and molecular cytogenetic studies of five new patients with 20q11q12 deletion and review of the literature: Proposition of two critical regions.
Am J Med Genet A
; : e63580, 2024 Mar 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38511524
6.
Developmental epileptic encephalopathy in DLG4-related synaptopathy.
Epilepsia
; 65(4): 1029-1045, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38135915
7.
Variants in USP48 encoding ubiquitin hydrolase are associated with autosomal dominant non-syndromic hereditary hearing loss.
Hum Mol Genet
; 30(19): 1785-1796, 2021 09 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-34059922
8.
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.
Am J Hum Genet
; 106(3): 356-370, 2020 03 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32109418
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.
Familial transmission of chromoanagenesis leads to unpredictable unbalanced rearrangements through meiotic recombination.
Clin Genet
; 103(4): 401-412, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36576162
11.
GRIN1 variants associated with neurodevelopmental disorders reveal channel gating pathomechanisms.
Epilepsia
; 64(12): 3377-3388, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37734923
12.
Alpha Satellite Insertion Close to an Ancestral Centromeric Region.
Mol Biol Evol
; 38(12): 5576-5587, 2021 12 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34464971
13.
CDK13-related disorder: Report of a series of 18 previously unpublished individuals and description of an epigenetic signature.
Genet Med
; 24(5): 1096-1107, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35063350
14.
De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder.
Genet Med
; 24(12): 2464-2474, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36214804
15.
Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.
Genet Med
; 24(10): 2051-2064, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35833929
16.
Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication-deletion: Genotype-phenotype correlation for anomalies of the corpus callosum.
Clin Genet
; 101(3): 307-316, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34866188
17.
Progressive Myoclonus Epilepsy Caused by a Homozygous Splicing Variant of SLC7A6OS.
Ann Neurol
; 89(2): 402-407, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33085104
18.
Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndrome.
J Med Genet
; 58(12): 815-831, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33172956
19.
Novel missense mutations in PTCHD1 alter its plasma membrane subcellular localization and cause intellectual disability and autism spectrum disorder.
Hum Mutat
; 42(7): 848-861, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33856728
20.
A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.
Am J Hum Genet
; 102(5): 995-1007, 2018 05 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29656858