Detalhe da pesquisa
1.
Long-read whole genome sequencing reveals HOXD13 alterations in synpolydactyly.
Hum Mutat
; 43(2): 189-199, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34859533
2.
Discovery of clinically relevant fusions in pediatric cancer.
BMC Genomics
; 22(1): 872, 2021 Dec 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34863095
3.
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
4.
Novel Presentation of Hemiplegic Migraine in a Patient With Cockayne Syndrome.
Pediatr Neurol
; 138: 95-97, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36434915
5.
De novo missense mutation in GRIA2 in a patient with global developmental delay, autism spectrum disorder, and epileptic encephalopathy.
Cold Spring Harb Mol Case Stud
; 2022 May 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35534222
6.
Biallelic SEPSECS variants in two siblings with pontocerebellar hypoplasia type 2D underscore the relevance of splice-disrupting synonymous variants in disease.
Cold Spring Harb Mol Case Stud
; 8(2)2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35091508
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