Search details
1.
Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly.
Am J Hum Genet
; 110(3): 499-515, 2023 03 02.
Article
in English
| MEDLINE | ID: mdl-36724785
2.
Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project.
Hum Genomics
; 18(1): 44, 2024 Apr 29.
Article
in English
| MEDLINE | ID: mdl-38685113
3.
Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders.
Am J Hum Genet
; 108(8): 1450-1465, 2021 08 05.
Article
in English
| MEDLINE | ID: mdl-34186028
4.
KCND2 variants associated with global developmental delay differentially impair Kv4.2 channel gating.
Hum Mol Genet
; 30(23): 2300-2314, 2021 11 16.
Article
in English
| MEDLINE | ID: mdl-34245260
5.
DNM1L variant presenting as adolescent-onset sensory neuronopathy, spasticity, dystonia, and ataxia.
J Pediatr Neurol
; 21(6): 475-478, 2023 Dec.
Article
in English
| MEDLINE | ID: mdl-38481935
6.
Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency.
Hum Mutat
; 43(4): 461-470, 2022 04.
Article
in English
| MEDLINE | ID: mdl-35094443
7.
seqr: A web-based analysis and collaboration tool for rare disease genomics.
Hum Mutat
; 43(6): 698-707, 2022 06.
Article
in English
| MEDLINE | ID: mdl-35266241
8.
De novo variants in MPP5 cause global developmental delay and behavioral changes.
Hum Mol Genet
; 29(20): 3388-3401, 2020 12 18.
Article
in English
| MEDLINE | ID: mdl-33073849
9.
Wide range of phenotypic severity in individuals with late truncations unique to the predominant CDKL5 transcript in the brain.
Am J Med Genet A
; 188(12): 3516-3524, 2022 12.
Article
in English
| MEDLINE | ID: mdl-35934918
10.
Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield.
Genet Med
; 22(4): 736-744, 2020 04.
Article
in English
| MEDLINE | ID: mdl-31780822
11.
Parental interest in genomic sequencing of newborns: enrollment experience from the BabySeq Project.
Genet Med
; 21(3): 622-630, 2019 03.
Article
in English
| MEDLINE | ID: mdl-30209271
12.
De novo variant of TRRAP in a patient with very early onset psychosis in the context of non-verbal learning disability and obsessive-compulsive disorder: a case report.
BMC Med Genet
; 19(1): 197, 2018 11 13.
Article
in English
| MEDLINE | ID: mdl-30424743
13.
Monogenic Hashimoto thyroiditis associated with a variant in the thyroglobulin (TG) gene.
J Autoimmun
; 86: 116-119, 2018 01.
Article
in English
| MEDLINE | ID: mdl-28942902
14.
Three-generation family with novel contiguous gene deletion on chromosome 2p22 associated with thoracic aortic aneurysm syndrome.
Am J Med Genet A
; 176(3): 560-569, 2018 03.
Article
in English
| MEDLINE | ID: mdl-29350460
15.
Mono and biallelic variants in HCN2 cause severe neurodevelopmental disorders.
medRxiv
; 2024 Mar 22.
Article
in English
| MEDLINE | ID: mdl-38562733
16.
Emerging roles and opportunities for rare disease patient advocacy groups.
Ther Adv Rare Dis
; 4: 26330040231164425, 2023.
Article
in English
| MEDLINE | ID: mdl-37197559
17.
Advancing Understanding of Inequities in Rare Disease Genomics.
Clin Ther
; 45(8): 745-753, 2023 08.
Article
in English
| MEDLINE | ID: mdl-37517917
18.
Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project.
medRxiv
; 2023 Aug 04.
Article
in English
| MEDLINE | ID: mdl-37577678
19.
Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis.
medRxiv
; 2023 Aug 13.
Article
in English
| MEDLINE | ID: mdl-38328047
20.
Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly.
Neuron
; 109(2): 241-256.e9, 2021 01 20.
Article
in English
| MEDLINE | ID: mdl-33220177