Detalhe da pesquisa
1.
Case report and review of the literature: immune dysregulation in a large familial cohort due to a novel pathogenic RELA variant.
Rheumatology (Oxford)
; 62(1): 347-359, 2022 12 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-35412596
2.
Hypomorphic alleles pose challenges in rare disease genomic variant interpretation.
Clin Genet
; 100(6): 775-776, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34476810
3.
Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder.
Mol Psychiatry
; 24(11): 1748-1768, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29728705
4.
Mutations in PLS1, encoding fimbrin, cause autosomal dominant nonsyndromic hearing loss.
Hum Mutat
; 40(12): 2286-2295, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31397523
5.
Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machinery.
Hum Mutat
; 39(8): 1126-1138, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29851191
6.
Assessing the Clinical Utility of SNP Microarray for Prader-Willi Syndrome due to Uniparental Disomy.
Cytogenet Genome Res
; 152(2): 105-109, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28746920
7.
Maternal mosaicism for a missense variant in the SMS gene that causes Snyder-Robinson syndrome.
Cold Spring Harb Mol Case Stud
; 7(6)2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34667072
8.
Early-onset Wilson disease caused by ATP7B exon skipping associated with intronic variant.
Cold Spring Harb Mol Case Stud
; 6(3)2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32532881
9.
Expansion of B4GALT7 linkeropathy phenotype to include perinatal lethal skeletal dysplasia.
Eur J Hum Genet
; 27(10): 1569-1577, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31278392
10.
A de novo nonsense mutation in ASXL3 shared by siblings with Bainbridge-Ropers syndrome.
Cold Spring Harb Mol Case Stud
; 4(3)2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29305346