| # | Title | Journal | Year | Citations |
|---|
| 1 | Partial leptin deficiency and human adiposity | Nature | 2001 | 356 |
| 2 | Genotypic and Phenotypic Spectrum in Tricho-Rhino-Phalangeal Syndrome Types I and III | American Journal of Human Genetics | 2001 | 205 |
| 3 | Newly delineated syndrome of congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE syndrome) in seven patients | American Journal of Medical Genetics, Part A | 2007 | 201 |
| 4 | Aneuploidy in human spermatozoa: FISH analysis in men with constitutional chromosomal abnormalities, and in infertile men | Reproduction | 2001 | 191 |
| 5 | Aneuploidy in human sperm: a review of the frequency and distribution of aneuploidy, effects of donor age and lifestyle factors | Cytogenetic and Genome Research | 2000 | 156 |
| 6 | Human Male Recombination Maps for Individual Chromosomes | American Journal of Human Genetics | 2004 | 126 |
| 7 | Bilateral frontoparietal polymicrogyria: Clinical and radiological features in 10 families with linkage to chromosome 16 | Annals of Neurology | 2003 | 120 |
| 8 | Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance | Human Molecular Genetics | 2014 | 120 |
| 9 | Neuroimaging findings in macrocephaly–capillary malformation: A longitudinal study of 17 patients | American Journal of Medical Genetics, Part A | 2007 | 103 |
| 10 | Reliability of aneuploidy estimates in human sperm: Results of fluorescence in situ hybridization studies using two different scoring criteria | Molecular Reproduction and Development | 1995 | 87 |
| 11 | Thiamine-Responsive Megaloblastic Anemia: Identification of Novel Compound Heterozygotes and Mutation Update | Journal of Pediatrics | 2009 | 82 |
| 12 | Mutations in CSPP1, Encoding a Core Centrosomal Protein, Cause a Range of Ciliopathy Phenotypes in Humans | American Journal of Human Genetics | 2014 | 77 |
| 13 | Frontometaphyseal dysplasia: Mutations inFLNA and phenotypic diversity | American Journal of Medical Genetics, Part A | 2006 | 67 |
| 14 | Donor age and the frequency of disomy for chromosomes 1, 13, 21 and structural abnormalities in human spermatozoa using multicolour fluorescence in-situ hybridization | Human Reproduction | 1998 | 63 |
| 15 | Multicolor fluorescence in situ hybridization analysis of meiotic chromosome segregation in a 47,XYY male and a review of the literature | American Journal of Medical Genetics Part A | 2000 | 58 |
| 16 | Lentivirus-mediated gene therapy for Fabry disease | Nature Communications | 2021 | 58 |
| 17 | Pathogenicity of two COQ7 mutations and responses to 2,4‐dihydroxybenzoate bypass treatment | Journal of Cellular and Molecular Medicine | 2017 | 57 |
| 18 | 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 inHNRNPK | Human Mutation | 2015 | 56 |
| 19 | Mutation in the 5′ alternatively spliced region of the XNP/ATR-X gene causes Chudley–Lowry syndrome | European Journal of Human Genetics | 2005 | 53 |
| 20 | SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype | Human Mutation | 2005 | 53 |
| 21 | Prenatal features of Costello syndrome: ultrasonographic findings and atrial tachycardia | Prenatal Diagnosis | 2009 | 52 |
| 22 | A 47,XXY fetus resulting from ICSI in a man with an elevated frequency of 24,XY spermatozoa | Human Reproduction | 1999 | 42 |
| 23 | Overcoming bioprocess bottlenecks in the large-scale expansion of high-quality hiPSC aggregates in vertical-wheel stirred suspension bioreactors | Stem Cell Research and Therapy | 2021 | 42 |
| 24 | Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta | Human Molecular Genetics | 2015 | 40 |
| 25 | Optimized serial expansion of human induced pluripotent stem cells using low-density inoculation to generate clinically relevant quantities in vertical-wheel bioreactors | Stem Cells Translational Medicine | 2020 | 40 |
| 26 | Spontaneous frequencies of aneuploid and diploid sperm in 10 normal Chinese men: assessed by multicolor fluorescence in situ hybridization | Cytogenetic and Genome Research | 2000 | 36 |
| 27 | Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15 | European Journal of Human Genetics | 2009 | 33 |
| 28 | Evolution of genetic assessment for BRCA-associated gynaecologic malignancies: a Canadian multisociety roadmap | Journal of Medical Genetics | 2018 | 33 |
| 29 | Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: Cant� syndrome | American Journal of Medical Genetics Part A | 1999 | 32 |
| 30 | VACTERL manifestations in two generations of a family | | 1999 | 31 |
| 31 | The Canadian Rare Diseases Models and Mechanisms (RDMM) Network: Connecting Understudied Genes to Model Organisms | American Journal of Human Genetics | 2020 | 30 |
| 32 | Mechanisms of nondisjunction in human spermatogenesis | Cytogenetic and Genome Research | 2005 | 27 |
| 33 | Prenatally diagnosed mosaic trisomy 22 in a fetus with left ventricular non‐compaction cardiomyopathy | American Journal of Medical Genetics, Part A | 2007 | 25 |
| 34 | Analysis of Aneuploidy Frequencies in Sperm from Patients with Hereditary Nonpolyposis Colon Cancer and an hMSH2 Mutation | American Journal of Human Genetics | 2000 | 24 |
| 35 | Ring chromosome 7 with amplification of 7q sequences in a pediatric case of hepatosplenic T-cell lymphoma | Cancer Genetics and Cytogenetics | 2006 | 24 |
| 36 | Novel findings and expansion of phenotype in a mosaic RASopathy caused by somatic KRAS variants | American Journal of Medical Genetics, Part A | 2021 | 23 |
| 37 | Frequency of genomic rearrangements involving the SHFM3 locus at chromosome 10q24 in syndromic and non-syndromic split-hand/foot malformation | American Journal of Medical Genetics, Part A | 2006 | 22 |
| 38 | ALG9-CDG: New clinical case and review of the literature | Molecular Genetics and Metabolism Reports | 2017 | 21 |
| 39 | Human sperm chromosome complements in chemotherapy patients and infertile men | Chromosoma | 1998 | 20 |
| 40 | FOXL2copy number changes in the molecular pathogenesis of BPES: unique cohort of 17 deletions | Human Mutation | 2010 | 20 |
| 41 | Nondisjunction in human sperm: comparison of frequencies in acrocentric chromosomes | Cytogenetic and Genome Research | 1999 | 19 |
| 42 | Sperm Chromosome Analysis in a Man Heterozygous for a Paracentric Inversion of Chromosome 14 (q24.1q32.1) | American Journal of Human Genetics | 1999 | 19 |
| 43 | Vitamin B12 Deficiency in Infancy: The Case for Screening | Pediatric Blood and Cancer | 2016 | 19 |
| 44 | A New Patient With Intermediate Severe Salla Disease With Hypomyelination: A Literature Review for Salla Disease | Pediatric Neurology | 2017 | 18 |
| 45 | De novo exon 1 missense mutations of SKI and Shprintzen‐Goldberg syndrome: Two new cases and a clinical review | American Journal of Medical Genetics, Part A | 2014 | 16 |
| 46 | Monozygotic twins with variable expression of Van der Woude Syndrome | American Journal of Medical Genetics, Part A | 2011 | 15 |
| 47 | The Geneticist's Role in Adult Congenital Heart Disease | Cardiology Clinics | 2006 | 12 |
| 48 | Absence ofPITX2,BARX1, andFOXC1 mutations in De Hauwere syndrome (Axenfeld–Rieger anomaly, hydrocephaly, hearing loss): A 25-year follow up | American Journal of Medical Genetics, Part A | 2007 | 12 |
| 49 | Impact of observed versus hypothesized service utilization on the incremental cost of first trimester screening and prenatal diagnosis for trisomy 21 in a Canadian province | Prenatal Diagnosis | 2013 | 12 |
| 50 | VACTERL manifestations in two generations of a family | American Journal of Medical Genetics Part A | 1999 | 12 |
