Detalhe da pesquisa
1.
Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project.
Hum Genomics
; 18(1): 44, 2024 Apr 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38685113
2.
Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies.
Hum Genet
; 143(3): 279-291, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38451290
3.
Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes.
Ann Neurol
; 91(2): 225-237, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34954817
4.
seqr: A web-based analysis and collaboration tool for rare disease genomics.
Hum Mutat
; 43(6): 698-707, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35266241
5.
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.
Genet Med
; 24(8): 1753-1760, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35579625
6.
Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy.
Brain
; 144(9): 2659-2669, 2021 10 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-34415322
7.
Quality of Life, Participation, and Individualized Support in a Community-Based Yoga Class: A Case Series.
Pediatr Phys Ther
; 34(4): 556-562, 2022 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35943398
8.
DLG4-related synaptopathy: a new rare brain disorder.
Genet Med
; 23(5): 888-899, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33597769
9.
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.
Genet Med
; 25(2): 100004, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36745127
10.
Rare ACTN2 Frameshift Variants Resulting in Protein Extension Cause Distal Myopathy and Hypertrophic Cardiomyopathy through Protein Aggregation.
medRxiv
; 2024 Jan 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-38293186
11.
Detecting missed diagnoses of spinal muscular atrophy in genome, exome, and panel sequencing datasets.
medRxiv
; 2024 Feb 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38405995
12.
Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy.
Ann Clin Transl Neurol
; 11(3): 629-640, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38311799
13.
Novel syndromic neurodevelopmental disorder caused by de novo deletion of CHASERR, a long noncoding RNA.
medRxiv
; 2024 Feb 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38496558
14.
Neurodevelopmental disorders associated variants in ADAT3 disrupt the activity of the ADAT2/ADAT3 tRNA deaminase complex and impair neuronal migration.
medRxiv
; 2024 Mar 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38496416
15.
Advancing Understanding of Inequities in Rare Disease Genomics.
medRxiv
; 2023 Mar 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-37034593
16.
Advancing Understanding of Inequities in Rare Disease Genomics.
Clin Ther
; 45(8): 745-753, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37517917
17.
Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project.
medRxiv
; 2023 Aug 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37577678
18.
Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis.
medRxiv
; 2023 Aug 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38328047
19.
Monozygotic twins discordant for neurofibromatosis 1.
Am J Med Genet A
; 152A(3): 601-6, 2010 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-20186797