Detalhe da pesquisa
1.
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
2.
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
3.
Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders.
Hum Mutat
; 43(11): 1609-1628, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35904121
4.
CDK13-related disorder: Report of a series of 18 previously unpublished individuals and description of an epigenetic signature.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
5.
DNA methylation episignature in Gabriele-de Vries syndrome.
Genet Med
; 24(4): 905-914, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35027293
6.
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
7.
Growth charts in Kabuki syndrome 1.
Am J Med Genet A
; 182(3): 446-453, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31876365
8.
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.
Am J Hum Genet
; 108(6): 1161-1163, 2021 Jun 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34087165
9.
Mosaic EGFR exon 20 in-frame insertion pathogenic variants are associated with papular epidermal nevus with "skyline" basal cell layer (PENS).
Br J Dermatol
; 2024 Jun 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38828639
10.
B3GAT3-related disorder with craniosynostosis and bone fragility due to a unique mutation.
Genet Med
; 20(2): 269-274, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28771243
11.
Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.
Genet Med
; 25(11): 100962, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37658852
12.
Mutation Update for COL2A1 Gene Variants Associated with Type II Collagenopathies.
Hum Mutat
; 37(1): 7-15, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26443184
13.
Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.
Hum Mutat
; 37(9): 847-64, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27302555
14.
Identification of a new exon 2-skipped TNFR1 transcript: regulation by three functional polymorphisms of the TNFR-associated periodic syndrome (TRAPS) gene.
Ann Rheum Dis
; 73(1): 290-7, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23505244
15.
Dysspondyloenchondromatosis without COL2A1 mutation: possible genetic heterogeneity.
Am J Med Genet A
; 164A(3): 769-73, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24357493
16.
Association of Meier-Gorlin and microcephalic osteodysplastic primordial dwarfism type II clinical features in an individual with CDK5RAP2 primary microcephaly.
Eur J Med Genet
; 66(5): 104733, 2023 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-36842471
17.
SNPs in the TNF-α gene promoter associated with Behcet's disease in Moroccan patients.
Rheumatology (Oxford)
; 51(9): 1595-9, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22711844
18.
Rapid exome sequencing in critically ill infants: implementation in routine care from French regional hospital's perspective.
Eur J Hum Genet
; 30(9): 1076-1082, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35729264
19.
Using deep-neural-network-driven facial recognition to identify distinct Kabuki syndrome 1 and 2 gestalt.
Eur J Hum Genet
; 30(6): 682-686, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34803161
20.
Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders.
HGG Adv
; 3(1): 100075, 2022 Jan 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-35047860