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1.
A novel MAP3K7 mutation in a child with cardiospondylocarpofacial syndrome and orofacial clefting.
Clin Genet
; 103(2): 254-255, 2023 02.
Article
in English
| MEDLINE | ID: mdl-36320120
2.
Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions.
Am J Hum Genet
; 104(4): 685-700, 2019 04 04.
Article
in English
| MEDLINE | ID: mdl-30929737
3.
Clinical and technical assessment of MedExome vs. NGS panels in patients with suspected genetic disorders in Southwestern Ontario.
J Hum Genet
; 66(5): 451-464, 2021 May.
Article
in English
| MEDLINE | ID: mdl-33093641
4.
The phenotypic spectrum of AMER1-related osteopathia striata with cranial sclerosis: The first Canadian cohort.
Am J Med Genet A
; 185(12): 3793-3803, 2021 12.
Article
in English
| MEDLINE | ID: mdl-34414661
5.
Pancytopenia, splenomegaly, and mild bony abnormalities secondary to novel variants in thromboxane synthetase: An unusual cause of bone marrow failure.
Pediatr Blood Cancer
; 70(6): e30253, 2023 06.
Article
in English
| MEDLINE | ID: mdl-36786374
6.
Nonisolated diaphragmatic hernia in Simpson-Golabi-Behmel syndrome.
Prenat Diagn
; 38(2): 117-122, 2018 01.
Article
in English
| MEDLINE | ID: mdl-29240237
7.
Hiding in plain sight: Diagnosing congenital dysfibrinogenemia in a child presenting with acute myeloid leukemia.
Pediatr Blood Cancer
; 68(7): e29050, 2021 07.
Article
in English
| MEDLINE | ID: mdl-33822462
8.
Lessons learned from a child with a chromosomal abnormality but no major congenital anomalies.
Paediatr Child Health
; 26(3): 139-140, 2021 Jun.
Article
in English
| MEDLINE | ID: mdl-33936330
9.
An uninformative NIPT as an early indicator of cri-du-chat due to a chromosomal 5;18 translocation-An atypical presentation of a rare cytogenetic phenomenon.
Clin Case Rep
; 11(8): e7732, 2023 Aug.
Article
in English
| MEDLINE | ID: mdl-37529133
10.
Dual diagnosis of trisomy 21 and lethal perinatal Gaucher disease as a cause of non-immune hydrops fetalis in a twin pregnancy for a consanguineous couple.
Clin Case Rep
; 11(8): e7827, 2023 Aug.
Article
in English
| MEDLINE | ID: mdl-37637203
11.
Genetic simulation for high-stakes conversations.
Clin Teach
; 19(3): 229-234, 2022 06.
Article
in English
| MEDLINE | ID: mdl-35132784
12.
OTX2 mutation associated with severe myopia in a Canadian family.
Ophthalmic Genet
; 43(3): 389-391, 2022 06.
Article
in English
| MEDLINE | ID: mdl-34957897
13.
Pitfalls in Genetic Testing for Consanguineous Pediatric Populations.
Case Rep Genet
; 2022: 9393042, 2022.
Article
in English
| MEDLINE | ID: mdl-35663206
14.
Dual BRCA1 and BRCA2 pathogenic variants in an adolescent with syndromic intellectual disability.
Clin Case Rep
; 10(8): e6202, 2022 Aug.
Article
in English
| MEDLINE | ID: mdl-35957765
15.
Prenatal presentation of hereditary hemorrhagic telangiectasia - a report of two sibs.
Prenat Diagn
; 36(9): 891-3, 2016 Sep.
Article
in English
| MEDLINE | ID: mdl-27381467
16.
Resolving severe oligohydramnios as an early prenatal presentation of renal coloboma syndrome-A report of two generations.
Clin Case Rep
; 9(9): e04758, 2021 Sep.
Article
in English
| MEDLINE | ID: mdl-34512982
17.
Role of matrix metalloproteinase MMP-2, MMP-9 and tissue inhibitor of metalloproteinase (TIMP-1) in the clinical progression of pediatric acute lymphoblastic leukemia.
Hematology
; 26(1): 758-768, 2021 Dec.
Article
in English
| MEDLINE | ID: mdl-34555302
18.
Aromatase deficiency in an Ontario Old Order Mennonite family.
J Pediatr Endocrinol Metab
; 34(12): 1615-1618, 2021 Dec 20.
Article
in English
| MEDLINE | ID: mdl-34348419
19.
TP63-mutation as a cause of prenatal lethal multicystic dysplastic kidneys.
Mol Genet Genomic Med
; 8(11): e1486, 2020 11.
Article
in English
| MEDLINE | ID: mdl-32881366
20.
Challenges in Diagnosing Rare Genetic Causes of Common In Utero Presentations: Report of Two Patients with Mucolipidosis Type II (I-Cell Disease).
J Pediatr Genet
; 7(3): 134-137, 2018 Sep.
Article
in English
| MEDLINE | ID: mdl-30105123