selected scholarly activity
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conferences
- VARIBLE OROFACIAL CLEFTING AND CONGENTIAL MALFORMATIONS IN A FAMILY OF CHARGE SYDROME. American Journal of Medical Genetics, Part A. 910-910. 2020
- De novo C-terminal truncating mutations in MN1 cause a neurodevelopmental syndrome with distinctive facial features. European Journal of Human Genetics. 1093-1094. 2019
- ARMFIELD XLID SYNDROME HAS A DISTINCT PHENOTYPE (SHORT STATURE, SMALL HANDS/ FEET, OCULAR ANOMALIES, SEIZURES), RESULTS FROM MUTATIONS IN FAM50A, AND IS A SPLICEOSOMOPATHY. American Journal of Medical Genetics, Part A. 711-711. 2019
- Intravitreal Injection of Triamcinolone Acetonide for Macular Edema Due to Retinitis Pigmentosa and Other Retinal Diseases. Advances in Experimental Medicine and Biology. 309-314. 2006
- Monosomy 1pter syndrome: A case report.. American Journal of Human Genetics. 259-259. 2002
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journal articles
- Correspondence: Perspectives on the future of dysmorphology. American Journal of Medical Genetics, Part A. 191:2252-2253. 2023
- The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders. Brain. 146:3273-3288. 2023
- Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish. Science Advances. 9:eade0631. 2023
- Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data. Clinical Genetics. 103:288-300. 2023
- Further characterization of the 9q31 microdeletion phenotype; delineation of a common region of overlap containing ZNF462. Molecular genetics & genomic medicine. 11:e2116. 2023
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TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study. American Journal of Medical Genetics, Part A. 185:2417-2433. 2021 - Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy. Nature Communications. 11:3698. 2020
- MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis. Brain. 143:55-68. 2020
- Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies. Genetics in Medicine. 21:1797-1807. 2019
- Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions. American Journal of Human Genetics. 104:685-700. 2019
- Mutations That Alter the Carboxy-Terminal-Propeptide Cleavage Site of the Chains of Type I Procollagen Are Associated With a Unique Osteogenesis Imperfecta Phenotype. Journal of Bone and Mineral Research. 33:1260-1271. 2018
- Cover Image, Volume 176A, Number 4, April 2018. American Journal of Medical Genetics, Part A. 176. 2018
- Natural history and genotype‐phenotype correlations in 72 individuals with SATB2‐associated syndrome. American Journal of Medical Genetics, Part A. 176:925-935. 2018
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Genotype and phenotype in 12 additional individuals with
SATB2 ‐associated syndrome. Clinical Genetics. 92:423-429. 2017 - Correction: Corrigendum: The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype–phenotype correlations. Genetics in Medicine. 19:962-962. 2017
- Normal IQ is possible in Smith‐Lemli‐Opitz syndrome. American Journal of Medical Genetics, Part A. 173:2097-2100. 2017
- Novel features of Helsmoortel–Van der Aa/ADNP syndrome in a boy with a known pathogenic mutation in the ADNP gene detected by exome sequencing. American Journal of Medical Genetics, Part A. 173:1994-1995. 2017
- Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression. Genetics in Medicine. 19:53-61. 2017
- The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype–phenotype correlations. Genetics in Medicine. 18:1143-1150. 2016
- Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling. Nature Genetics. 46:503-509. 2014
- Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder. European Journal of Human Genetics. 22:57-63. 2014
- The duplication 17p13.3 phenotype: Analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes. American Journal of Medical Genetics, Part A. 161:1833-1852. 2013
- Monosomy 3pter-p25.3 and Trisomy 1q42.13-qter in a Boy With Profound Growth and Developmental Restriction, Multiple Congenital Anomalies, and Early Death. Pediatrics and Neonatology. 54:202-206. 2013
- Trisomy 22 Mosaicism and Normal Developmental Outcome: Report of Two Patients and Review of the Literature. American Journal of Medical Genetics, Part A. 161:1126-1131. 2013
- Mosaicism of the UDP-Galactose Transporter SLC35A2 Causes a Congenital Disorder of Glycosylation. American Journal of Human Genetics. 92:632-636. 2013
- Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities. European Journal of Human Genetics. 21:173-181. 2013
- Correspondence. Clinical Dysmorphology. 21:109-111. 2012
- Severe intellectual disability and autistic features associated with microduplication 2q23.1. European Journal of Human Genetics. 20:398-403. 2012
- Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1. Journal of Medical Genetics. 48:375-382. 2011
- Personalized medicine - the promised land: are we there yet?. Clinical Genetics. 79:403-412. 2011
- A novel mutation c.4003 G>C in the CREBBP gene in an adult female with Rubinstein–Taybi syndrome presenting with subtle dysmorphic features. American Journal of Medical Genetics, Part A. 152A:2939-2941. 2010
- A prenatally recognizable malformation syndrome associated with a recurrent post‐zygotic chromosome rearrangement der(Y)t(Y;1)(q12:q21). American Journal of Medical Genetics, Part A. 152A:2339-2341. 2010
- Response to restrictive dermopathy and ZMPSTE24 mutations in Mennonites: Evidence for allelic heterogeneity. American Journal of Medical Genetics, Part A. 152A:2142-2142. 2010
- WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations. Human Genetics. 128:103-111. 2010
- Short Communication: The Cardiac Myosin Binding Protein C Arg502Trp Mutation. Circulation Research. 106:1549-1552. 2010
- Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12. European Journal of Human Genetics. 18:278-284. 2010
- The Roberts syndrome/SC phocomelia spectrum—A case report of an adult with review of the literature. American Journal of Medical Genetics, Part A. 152A:472-478. 2010
- Homozygosity for the common mutation c.1085dupT in the ZMPSTE24 gene in a Mennonite baby with restrictive dermopathy and placenta abruption. American Journal of Medical Genetics, Part A. 152A:262-263. 2010
- A new syndrome of ankyloglossia and ulnar ray defects in a Newfoundland kindred. Clinical Dysmorphology. 18:158-159. 2009
- Macrocephaly, growth failure, translucent skin, renal cysts, coarctation of the aorta, and cholestasis: novel features of a new syndrome – the del17q12 syndrome. Clinical Dysmorphology. 18:149-150. 2009
- Phalangeal hypoplasia, mental retardation, agenesis of the corpus callosum, brainstem abnormalities and ectopic grey matter: unique case or newly recognized syndrome?. Clinical Dysmorphology. 18:160-163. 2009
- Direct interaction of a small-molecule modulator with G551D-CFTR, a cystic fibrosis-causing mutation associated with severe disease. Biochemical Journal. 418:185-190. 2009
- A novel large deletion and three polymorphisms in the FECH gene associated with erythropoietic protoporphyria. Clinical Chemistry and Laboratory Medicine. 47:44-46. 2009
- Increased Nuchal Translucency and Other Ultrasound Findings in a Case of Simpson-Golabi-Behmel Syndrome. Fetal Diagnosis and Therapy. 25:211-215. 2009
- Novel craniofacial and extracraniofacial findings in a case of Treacher Collins syndrome with a pathogenic mutation and a missense variant in the TCOF1 gene. Clinical Dysmorphology. 18:63-66. 2009
- Clinical genetics provider real-time workflow study. Genetics in Medicine. 10:915-915. 2008
- Manitoba Oculotrichoanal (MOTA) syndrome: report of eight new cases.. American Journal of Medical Genetics, Part A. 143A:853-857. 2007
- Manitoba oculotrichoanal (MOTA) syndrome: Report of eight new cases. American Journal of Medical Genetics, Part A. 143A:853-857. 2007
- RETIRED: Prenatal Screening for Fetal Aneuploidy. Journal of Obstetrics and Gynaecology Canada. 29:146-161. 2007
- Silk microspheres for encapsulation and controlled release. Journal of Controlled Release. 117:360-370. 2007
- Mutation analysis of the FRAS1 gene demonstrates new mutations in a propositus with Fraser syndrome. American Journal of Medical Genetics, Part A. 140A:1909-1914. 2006
- Carrier Screening for Genetic Disorders in Individuals of Ashkenazi Jewish Descent. Journal of Obstetrics and Gynaecology Canada. 28:324-332. 2006
- Severe hemihypotrophy in a female infant with mosaic Turner syndrome: a variant of Russell???Silver syndrome?. Clinical Dysmorphology. 13:95-98. 2004
- Pulmonary Atresia with Intact Ventricular Septum and Major Aortopulmonary Collaterals: Association with Deletion 22q11.2. Pediatric Cardiology. 24:585-587. 2003
- Variation of myelin basic protein and its antibody in serum in senile dementia patients.. Chinese Medical Sciences Journal. 15:28. 2000
- Heterophilic Binding of L1 on Unmyelinated Sensory Axons Mediates Schwann Cell Adhesion and Is Required for Axonal Survival. Journal of Cell Biology. 146:1173-1184. 1999
- Myelin-Associated Glycoprotein Is a Myelin Signal that Modulates the Caliber of Myelinated Axons. Journal of Neuroscience. 18:1953-1962. 1998
- Myelin associated glycoprotein modulates glia-axon contact in vivo. Journal of Neuroscience Research. 51:210-217. 1998
- Sodium channel distribution in axons of hypomyelinated and MAG null mutant mice. Journal of Neuroscience Research. 50:321-336. 1997
- Sodium channel distribution in axons of hypomyelinated and MAG null mutant mice. Journal of Neuroscience Research. 50:321-336. 1997
- Myelin-associated glycoprotein inhibits neurite/axon growth and causes growth cone collapse. Journal of Neuroscience Research. 46:404-414. 1996
- Myelin‐associated glycoprotein inhibits neurite/axon growth and causes growth cone collapse. Journal of Neuroscience Research. 46:404-414. 1996
- Myelin from MAG- deficient mice is a strong inhibitor of neurite outgrowth. NeuroReport. 7:861-864. 1996
- [Myelin basic protein level in serum of patients with chronic cor pulmonale in acute phase].. Journal of Sichuan University (Medical Science Edition). 26:138-140. 1995
- [The value of serum myelin basic protein in assessment of severity of acute closed head trauma].. Journal of Sichuan University (Medical Science Edition). 26:135-137. 1995
- Myelination in the absence of myelin-associated glycoprotein. Nature. 369:747-750. 1994
- FREM1 Autosomal Recessive Disorders 1993