Search details
1.
The expanding diagnostic toolbox for rare genetic diseases.
Nat Rev Genet
; 25(6): 401-415, 2024 Jun.
Article
in English
| MEDLINE | ID: mdl-38238519
2.
Care4Rare Canada: Outcomes from a decade of network science for rare disease gene discovery.
Am J Hum Genet
; 109(11): 1947-1959, 2022 11 03.
Article
in English
| MEDLINE | ID: mdl-36332610
3.
The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disability.
Am J Hum Genet
; 109(10): 1923-1931, 2022 10 06.
Article
in English
| MEDLINE | ID: mdl-36067766
4.
Compound heterozygous variants in SHQ1 are associated with a spectrum of neurological features, including early-onset dystonia.
Hum Mol Genet
; 31(4): 614-624, 2022 02 21.
Article
in English
| MEDLINE | ID: mdl-34542157
5.
ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomalies.
Am J Hum Genet
; 108(10): 2017-2023, 2021 10 07.
Article
in English
| MEDLINE | ID: mdl-34587489
6.
A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome.
Am J Hum Genet
; 108(4): 749-756, 2021 04 01.
Article
in English
| MEDLINE | ID: mdl-33743206
7.
Integrated omics analyses clarifies ATRX copy number variant of uncertain significance.
J Hum Genet
; 69(2): 101-105, 2024 Feb.
Article
in English
| MEDLINE | ID: mdl-37904029
8.
Phenotypic heterogeneity associated with KIF21A: Two new cases and review of the literature.
Am J Med Genet A
; 194(3): e63455, 2024 Mar.
Article
in English
| MEDLINE | ID: mdl-37921537
9.
Molecular characterization of 13 patients with PIK3CA-related overgrowth spectrum using a targeted deep sequencing approach.
Am J Med Genet A
; 194(3): e63466, 2024 Mar.
Article
in English
| MEDLINE | ID: mdl-37949664
10.
Long-read genome sequencing reveals a novel intronic retroelement insertion in NR5A1 associated with 46,XY differences of sexual development.
Am J Med Genet A
; 194(5): e63522, 2024 May.
Article
in English
| MEDLINE | ID: mdl-38131126
11.
New Diagnostic Approaches for Undiagnosed Rare Genetic Diseases.
Annu Rev Genomics Hum Genet
; 21: 351-372, 2020 08 31.
Article
in English
| MEDLINE | ID: mdl-32283948
12.
Genomics4RD: An integrated platform to share Canadian deep-phenotype and multiomic data for international rare disease gene discovery.
Hum Mutat
; 43(6): 800-811, 2022 06.
Article
in English
| MEDLINE | ID: mdl-35181971
13.
Outcome of over 1500 matches through the Matchmaker Exchange for rare disease gene discovery: The 2-year experience of Care4Rare Canada.
Genet Med
; 24(1): 100-108, 2022 01.
Article
in English
| MEDLINE | ID: mdl-34906465
14.
ClinPred: Prediction Tool to Identify Disease-Relevant Nonsynonymous Single-Nucleotide Variants.
Am J Hum Genet
; 103(4): 474-483, 2018 10 04.
Article
in English
| MEDLINE | ID: mdl-30220433
15.
De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures.
Am J Hum Genet
; 103(1): 144-153, 2018 07 05.
Article
in English
| MEDLINE | ID: mdl-29961568
16.
Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes.
Am J Hum Genet
; 102(1): 156-174, 2018 01 04.
Article
in English
| MEDLINE | ID: mdl-29304373
17.
Biallelic Mutations in LRRC56, Encoding a Protein Associated with Intraflagellar Transport, Cause Mucociliary Clearance and Laterality Defects.
Am J Hum Genet
; 103(5): 727-739, 2018 11 01.
Article
in English
| MEDLINE | ID: mdl-30388400
18.
Whole genome sequencing identifies pathogenic RNU4ATAC variants in a child with recurrent encephalitis, microcephaly, and normal stature.
Am J Med Genet A
; 185(11): 3502-3506, 2021 11.
Article
in English
| MEDLINE | ID: mdl-34405953
19.
Homozygous WNT9B variants in two families with bilateral renal agenesis/hypoplasia/dysplasia.
Am J Med Genet A
; 185(10): 3005-3011, 2021 10.
Article
in English
| MEDLINE | ID: mdl-34145744
20.
Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome.
Am J Med Genet A
; 185(1): 119-133, 2021 01.
Article
in English
| MEDLINE | ID: mdl-33098347