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1.
De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis.
Am J Hum Genet
; 108(2): 357-367, 2021 02 04.
Article
in English
| MEDLINE | ID: mdl-33508234
2.
Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy.
Genet Med
; 25(9): 100897, 2023 09.
Article
in English
| MEDLINE | ID: mdl-37191094
3.
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
4.
RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans.
Am J Hum Genet
; 97(6): 862-8, 2015 Dec 03.
Article
in English
| MEDLINE | ID: mdl-26608784
5.
Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8.
Am J Hum Genet
; 97(6): 886-93, 2015 Dec 03.
Article
in English
| MEDLINE | ID: mdl-26637978
6.
TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations.
Am J Hum Genet
; 97(6): 922-32, 2015 Dec 03.
Article
in English
| MEDLINE | ID: mdl-26637982
7.
Data sharing as a national quality improvement program: reporting on BRCA1 and BRCA2 variant-interpretation comparisons through the Canadian Open Genetics Repository (COGR).
Genet Med
; 20(3): 294-302, 2018 03.
Article
in English
| MEDLINE | ID: mdl-28726806
8.
Is PNPT1-related hearing loss ever non-syndromic? Whole exome sequencing of adult siblings expands the natural history of PNPT1-related disorders.
Am J Med Genet A
; 176(11): 2487-2493, 2018 11.
Article
in English
| MEDLINE | ID: mdl-30244537
9.
Next-Generation Sequencing Using a Cardiac Gene Panel in Prenatally Diagnosed Cardiac Anomalies.
J Obstet Gynaecol Can
; 40(11): 1417-1423, 2018 11.
Article
in English
| MEDLINE | ID: mdl-30473118
10.
Pathogenicity of two COQ7 mutations and responses to 2,4-dihydroxybenzoate bypass treatment.
J Cell Mol Med
; 21(10): 2329-2343, 2017 10.
Article
in English
| MEDLINE | ID: mdl-28409910
11.
A peroxisomal disorder of severe intellectual disability, epilepsy, and cataracts due to fatty acyl-CoA reductase 1 deficiency.
Am J Hum Genet
; 95(5): 602-10, 2014 Nov 06.
Article
in English
| MEDLINE | ID: mdl-25439727
12.
Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy.
Am J Hum Genet
; 95(2): 227-34, 2014 Aug 07.
Article
in English
| MEDLINE | ID: mdl-25105227
13.
Cover Image, Volume 173A, Number 10, October 2017.
Am J Med Genet A
; 173(10): i, 2017 Oct.
Article
in English
| MEDLINE | ID: mdl-28921853
14.
Lin-Gettig syndrome: Craniosynostosis expands the spectrum of the KAT6B related disorders.
Am J Med Genet A
; 173(10): 2596-2604, 2017 Oct.
Article
in English
| MEDLINE | ID: mdl-28696035
15.
A novel NDUFS4 frameshift mutation causes Leigh disease in the Hutterite population.
Am J Med Genet A
; 173(3): 596-600, 2017 Mar.
Article
in English
| MEDLINE | ID: mdl-27671926
16.
Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder.
J Med Genet
; 53(12): 812-819, 2016 12.
Article
in English
| MEDLINE | ID: mdl-27489308
17.
Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability.
Am J Hum Genet
; 93(1): 181-90, 2013 Jul 11.
Article
in English
| MEDLINE | ID: mdl-23830518
18.
A relatively mild skeletal ciliopathy phenotype consistent with cranioectodermal dysplasia is associated with a homozygous nonsynonymous mutation in WDR35.
Am J Med Genet A
; 170(3): 760-5, 2016 Mar.
Article
in English
| MEDLINE | ID: mdl-26691894
19.
Matching two independent cohorts validates DPH1 as a gene responsible for autosomal recessive intellectual disability with short stature, craniofacial, and ectodermal anomalies.
Hum Mutat
; 36(10): 1015-9, 2015 Oct.
Article
in English
| MEDLINE | ID: mdl-26220823
20.
GeneMatcher aids in the identification of a new malformation syndrome with intellectual disability, unique facial dysmorphisms, and skeletal and connective tissue abnormalities caused by de novo variants in HNRNPK.
Hum Mutat
; 36(10): 1009-1014, 2015 Oct.
Article
in English
| MEDLINE | ID: mdl-26173930