Detalhe da pesquisa
1.
Biallelic variants in GTF3C5, a regulator of RNA polymerase III-mediated transcription, cause a multisystem developmental disorder.
Hum Genet
; 143(3): 437-453, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38520561
2.
Known pathogenic gene variants and new candidates detected in sudden unexpected infant death using whole genome sequencing.
Am J Med Genet A
; : e63596, 2024 Jun 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38895864
3.
Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila.
Am J Hum Genet
; 102(1): 44-57, 2018 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29276004
4.
De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder.
Am J Hum Genet
; 103(2): 305-316, 2018 08 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30057029
5.
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
6.
Nonlethal presentations of CYP26B1-related skeletal anomalies and multiple synostoses syndrome.
Am J Med Genet A
; 185(9): 2766-2775, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34160123
7.
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
8.
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
9.
Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features.
Am J Hum Genet
; 96(3): 507-13, 2015 Mar 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-25728777
10.
Correction: Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data.
Genet Med
; 20(10): 1298, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30377334
11.
Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data.
Genet Med
; 20(3): 329-336, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29389922
12.
Correction: Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data.
Genet Med
; 20(11): 1486, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29419820
13.
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
14.
Exome sequencing expands the mechanism of SOX5-associated intellectual disability: A case presentation with review of sox-related disorders.
Am J Med Genet A
; 167A(11): 2548-54, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26111154
15.
Known pathogenic gene variants and new candidates detected in Sudden Unexpected Infant Death using Whole Genome Sequencing.
medRxiv
; 2023 Nov 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-37745463
16.
Molecular Diagnostic Outcomes from 700 Cases: What Can We Learn from a Retrospective Analysis of Clinical Exome Sequencing?
J Mol Diagn
; 24(3): 274-286, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35065284
17.
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
18.
Automated Clinical Exome Reanalysis Reveals Novel Diagnoses.
J Mol Diagn
; 21(1): 38-48, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30577886
19.
Precision therapy for a new disorder of AMPA receptor recycling due to mutations in ATAD1.
Neurol Genet
; 3(1): e130, 2017 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-28180185
20.
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