Search details
1.
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
2.
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
3.
The Canadian Rare Diseases Models and Mechanisms (RDMM) Network: Connecting Understudied Genes to Model Organisms.
Am J Hum Genet
; 106(2): 143-152, 2020 02 06.
Article
in English
| MEDLINE | ID: mdl-32032513
4.
Multisystem inflammation and susceptibility to viral infections in human ZNFX1 deficiency.
J Allergy Clin Immunol
; 148(2): 381-393, 2021 08.
Article
in English
| MEDLINE | ID: mdl-33872655
5.
A homozygous canonical splice acceptor site mutation in PRUNE1 is responsible for a rare childhood neurodegenerative disease in Manitoba Cree families.
Am J Med Genet A
; 179(2): 206-218, 2019 02.
Article
in English
| MEDLINE | ID: mdl-30556349
6.
Amyloïdose héréditaire à transthyrétine accompagnée d'un syndrome du canal carpien.
CMAJ
; 196(14): E501-E505, 2024 Apr 14.
Article
in French
| MEDLINE | ID: mdl-38621774
7.
Hereditary transthyretin amyloidosis presenting with carpal tunnel syndrome.
CMAJ
; 196(3): E95-E99, 2024 Jan 28.
Article
in English
| MEDLINE | ID: mdl-38286493
8.
A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis.
J Med Genet
; 54(7): 490-501, 2017 07.
Article
in English
| MEDLINE | ID: mdl-28264986
9.
Acquired Microcephaly in a Patient with HECW2 Mutation.
Can J Neurol Sci
; 48(3): 435-437, 2021 05.
Article
in English
| MEDLINE | ID: mdl-32814609
10.
A novel CCBE1 mutation leading to a mild form of hennekam syndrome: case report and review of the literature.
BMC Med Genet
; 16: 28, 2015 Apr 30.
Article
in English
| MEDLINE | ID: mdl-25925991
11.
TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone.
Am J Hum Genet
; 89(6): 713-30, 2011 Dec 09.
Article
in English
| MEDLINE | ID: mdl-22152675
12.
The importance of functional validation after next-generation sequencing: evaluation of a novel CARD11 variant.
Pediatr Allergy Immunol
; 29(6): 663-668, 2018 09.
Article
in English
| MEDLINE | ID: mdl-29808493
13.
Heterozygous intragenic deletions of FREM1 are not associated with trigonocephaly.
Clin Dysmorphol
; 30(2): 83-88, 2021 Apr 01.
Article
in English
| MEDLINE | ID: mdl-33038106
14.
Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants.
Eur J Hum Genet
; 29(9): 1405-1417, 2021 09.
Article
in English
| MEDLINE | ID: mdl-33603160
15.
Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder.
Nat Commun
; 12(1): 2558, 2021 05 07.
Article
in English
| MEDLINE | ID: mdl-33963192
16.
Atypical features in a case of lethal perinatal Gaucher disease.
Neuropathol Appl Neurobiol
; 40(7): 946-50, 2014 Dec.
Article
in English
| MEDLINE | ID: mdl-24707850
17.
Characterization of a Unique Form of Arrhythmic Cardiomyopathy Caused by Recessive Mutation in LEMD2.
JACC Basic Transl Sci
; 4(2): 204-221, 2019 Apr.
Article
in English
| MEDLINE | ID: mdl-31061923
18.
The use of ancestral haplotypes in the molecular diagnosis of familial breast cancer.
Genet Test
; 11(3): 208-15, 2007.
Article
in English
| MEDLINE | ID: mdl-17949280
19.
Neuropathological, biochemical and molecular findings in a glutaric acidemia type 1 cohort.
Brain
; 128(Pt 4): 711-22, 2005 Apr.
Article
in English
| MEDLINE | ID: mdl-15689364
20.
The most common mutation in FKRP causing limb girdle muscular dystrophy type 2I (LGMD2I) may have occurred only once and is present in Hutterites and other populations.
Hum Mutat
; 25(1): 38-44, 2005 Jan.
Article
in English
| MEDLINE | ID: mdl-15580560