Detalhe da pesquisa
1.
Use of genome sequencing to hunt for cryptic second-hit variants: analysis of 31 cases recruited to the 100 000 Genomes Project.
J Med Genet
; 60(12): 1235-1244, 2023 Nov 27.
Artigo
Inglês
| MEDLINE | ID: mdl-37558402
2.
De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias.
Genet Med
; 25(10): 100927, 2023 10.
Artigo
Inglês
| MEDLINE | ID: mdl-37422718
3.
Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging.
Genome Res
; 29(7): 1057-1066, 2019 07.
Artigo
Inglês
| MEDLINE | ID: mdl-31160375
4.
Further delineation of Malan syndrome.
Hum Mutat
; 39(9): 1226-1237, 2018 09.
Artigo
Inglês
| MEDLINE | ID: mdl-29897170
5.
De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias.
Genet Med
; 25(11): 100964, 2023 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-37728613
6.
Chromosome 17q12 duplications: Further delineation of the range of psychiatric and clinical phenotypes.
Am J Med Genet B Neuropsychiatr Genet
; 177(5): 520-528, 2018 07.
Artigo
Inglês
| MEDLINE | ID: mdl-30134084
7.
EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy.
Brain
; 139(Pt 3): 765-81, 2016 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-26917586
8.
A rare example of germ-line chromothripsis resulting in large genomic imbalance.
Clin Dysmorphol
; 25(2): 58-62, 2016 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-26871565