Detalhe da pesquisa
1.
An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.
Am J Hum Genet
; 109(10): 1867-1884, 2022 10 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36130591
2.
Genome sequencing identifies KMT2E-disrupting cryptic structural variant in a female with O'Donnell-Luria-Rodan syndrome.
Clin Genet
; 104(3): 390-392, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37157895
3.
The prevalence and phenotypic range associated with biallelic PKDCC variants.
Clin Genet
; 104(1): 121-126, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36896672
4.
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Am J Hum Genet
; 111(4): 805, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38508193
5.
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Am J Hum Genet
; 2024 May 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38723631
6.
The role of ADP-ribosylation in regulating DNA interstrand crosslink repair.
J Cell Sci
; 129(20): 3845-3858, 2016 10 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-27587838
7.
Variable skeletal phenotypes associated with biallelic variants in PRKG2.
J Med Genet
; 59(10): 947-950, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34782440
8.
Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.
Genome Med
; 15(1): 94, 2023 11 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37946251