Detalhe da pesquisa
1.
Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder.
Am J Hum Genet
; 109(2): 361-372, 2022 02 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35051358
2.
Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.
Am J Hum Genet
; 108(6): 1138-1150, 2021 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33909992
3.
Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies.
Genet Med
; 21(3): 663-675, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30158690
4.
Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith-Magenis syndrome with evident peripheral neuropathy.
Hum Genet
; 135(10): 1161-74, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27386852
5.
Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity.
Genome Med
; 15(1): 102, 2023 Nov 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38031187
6.
Arginine to ornithine ratio as a diagnostic marker in patients with positive newborn screening for hyperargininemia.
Mol Genet Metab Rep
; 27: 100735, 2021 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-33732618
7.
Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum.
Mol Genet Metab Rep
; 8: 61-6, 2016 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-27504266