Detalhe da pesquisa
1.
A Genocentric Approach to Discovery of Mendelian Disorders.
Am J Hum Genet
; 105(5): 974-986, 2019 11 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31668702
2.
RCL1 copy number variants are associated with a range of neuropsychiatric phenotypes.
Mol Psychiatry
; 26(5): 1706-1718, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33597717
3.
Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein-truncating alleles in Xia-Gibbs syndrome.
Hum Mutat
; 42(5): 577-591, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33644933
4.
Phenotypic expansion in KIF1A-related dominant disorders: A description of novel variants and review of published cases.
Hum Mutat
; 41(12): 2094-2104, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32935419
5.
AHDC1 missense mutations in Xia-Gibbs syndrome.
HGG Adv
; 2(4)2021 Oct 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-34950897
6.
Germline mutation in POLR2A: a heterogeneous, multi-systemic developmental disorder characterized by transcriptional dysregulation.
HGG Adv
; 2(1)2021 Jan 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-33665635
7.
Phenotypic expansion in DDX3X - a common cause of intellectual disability in females.
Ann Clin Transl Neurol
; 5(10): 1277-1285, 2018 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-30349862