Detalhe da pesquisa
1.
A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.
Am J Hum Genet
; 102(5): 995-1007, 2018 05 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29656858
2.
WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features.
Am J Hum Genet
; 101(1): 139-148, 2017 Jul 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28686853
3.
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
Am J Hum Genet
; 101(5): 768-788, 2017 Nov 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29100089
4.
A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.
Am J Hum Genet
; 103(4): 631, 2018 10 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30290155
5.
A Transparent Approach to Calculate Detection Rate and Residual Risk for Carrier Screening.
J Mol Diagn
; 23(1): 91-102, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33349347
6.
Automated Clinical Exome Reanalysis Reveals Novel Diagnoses.
J Mol Diagn
; 21(1): 38-48, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30577886
7.
SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss.
Orphanet J Rare Dis
; 11(1): 130, 2016 Sep 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-27683084