| # | Title | Journal | Year | Citations |
|---|
| 1 | De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes | Nature Genetics | 2012 | 621 |
| 2 | Loss-of-function mutations in a calcium-channel α1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness | Nature Genetics | 1998 | 474 |
| 3 | Utility of whole‐exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care | Clinical Genetics | 2016 | 323 |
| 4 | Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness | Nature Genetics | 2000 | 309 |
| 5 | Haploinsufficiency of HDAC4 Causes Brachydactyly Mental Retardation Syndrome, with Brachydactyly Type E, Developmental Delays, and Behavioral Problems | American Journal of Human Genetics | 2010 | 273 |
| 6 | Biallelic Mutations in BRCA1 Cause a New Fanconi Anemia Subtype | Cancer Discovery | 2015 | 251 |
| 7 | The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies | Nature Genetics | 2017 | 251 |
| 8 | High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome | Human Mutation | 2005 | 238 |
| 9 | Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling | American Journal of Human Genetics | 2015 | 230 |
| 10 | Association Mapping of Disease Loci, by Use of a Pooled DNA Genomic Screen | American Journal of Human Genetics | 1997 | 228 |
| 11 | Mutation in Folate Metabolism Causes Epigenetic Instability and Transgenerational Effects on Development | Cell | 2013 | 225 |
| 12 | FORGE Canada Consortium: Outcomes of a 2-Year National Rare-Disease Gene-Discovery Project | American Journal of Human Genetics | 2014 | 219 |
| 13 | 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 |
| 14 | Homozygous Deletion of the Very Low Density Lipoprotein Receptor Gene Causes Autosomal Recessive Cerebellar Hypoplasia with Cerebral Gyral Simplification | American Journal of Human Genetics | 2005 | 192 |
| 15 | Aneuploidy in human spermatozoa: FISH analysis in men with constitutional chromosomal abnormalities, and in infertile men | Reproduction | 2001 | 191 |
| 16 | Haploinsufficiency of SF3B4, a Component of the Pre-mRNA Spliceosomal Complex, Causes Nager Syndrome | American Journal of Human Genetics | 2012 | 188 |
| 17 | The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists | Journal of Medical Genetics | 2015 | 187 |
| 18 | A locus on chromosome 15q26 (IDDM3) produces susceptibility to insulin-dependent diabetes mellitus | Nature Genetics | 1994 | 171 |
| 19 | Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8 | American Journal of Human Genetics | 2015 | 171 |
| 20 | Cytogenetic determinants of male fertility | Human Reproduction Update | 2008 | 166 |
| 21 | Mutations in SRCAP, Encoding SNF2-Related CREBBP Activator Protein, Cause Floating-Harbor Syndrome | American Journal of Human Genetics | 2012 | 157 |
| 22 | 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 |
| 23 | The Alberta Pregnancy Outcomes and Nutrition (APrON) cohort study: rationale and methods | Maternal and Child Nutrition | 2014 | 146 |
| 24 | Mutations inFLNCare Associated with Familial Restrictive Cardiomyopathy | Human Mutation | 2016 | 138 |
| 25 | PITX2 and FOXC1 spectrum of mutations in ocular syndromes | European Journal of Human Genetics | 2012 | 137 |
| 26 | Relationship between trinucliotide repeats and neuropathological changes in Huntington's diease | Annals of Neurology | 1996 | 133 |
| 27 | ELT-2 is the predominant transcription factor controlling differentiation and function of the C. elegans intestine, from embryo to adult | Developmental Biology | 2009 | 129 |
| 28 | CODAS Syndrome Is Associated with Mutations of LONP1, Encoding Mitochondrial AAA+ Lon Protease | American Journal of Human Genetics | 2015 | 127 |
| 29 | Human Male Recombination Maps for Individual Chromosomes | American Journal of Human Genetics | 2004 | 126 |
| 30 | Recommendations for the integration of genomics into clinical practice | Genetics in Medicine | 2016 | 125 |
| 31 | Is there a relationship between sperm chromosome abnormalities and sperm morphology? | Reproductive Biology and Endocrinology | 2006 | 124 |
| 32 | Mutations in SLC34A3/NPT2c Are Associated with Kidney Stones and Nephrocalcinosis | Journal of the American Society of Nephrology: JASN | 2014 | 124 |
| 33 | Transcriptional activity of the human tissue inhibitor of metalloproteinases 1 (TIMP-1) gene in fibroblasts involves elements in the promoter, exon 1 and intron 1 | Biochemical Journal | 1997 | 121 |
| 34 | Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development | Neuron | 2020 | 121 |
| 35 | Bilateral frontoparietal polymicrogyria: Clinical and radiological features in 10 families with linkage to chromosome 16 | Annals of Neurology | 2003 | 120 |
| 36 | Sperm aneuploidy frequencies analysed before and after chemotherapy in testicular cancer and Hodgkin's lymphoma patients | Human Reproduction | 2007 | 114 |
| 37 | Cigarette smoking and aneuploidy in human sperm | Molecular Reproduction and Development | 2001 | 113 |
| 38 | A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers | Cell | 2019 | 113 |
| 39 | Multicolor Fluorescence in Situ Hybridization Analysis of Aneuploidy and Diploidy Frequencies in 225 846 Sperm from 10 Normal Men1 | Biology of Reproduction | 1996 | 107 |
| 40 | Genome Scan for Loci Involved in Cleft Lip With or Without Cleft Palate, in Chinese Multiplex Families | American Journal of Human Genetics | 2002 | 107 |
| 41 | A Peroxisomal Disorder of Severe Intellectual Disability, Epilepsy, and Cataracts Due to Fatty Acyl-CoA Reductase 1 Deficiency | American Journal of Human Genetics | 2014 | 106 |
| 42 | GermlinePTEN mutation in a family with Cowden syndrome and Bannayan-Riley-Ruvalcaba Syndrome | American Journal of Medical Genetics Part A | 1998 | 105 |
| 43 | Susceptibility to Insulin-Dependent Diabetes Mellitus Maps to a Locus (IDDM11) on Human Chromosome 14q24.3–q31 | Genomics | 1996 | 102 |
| 44 | An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge | Genome Biology | 2014 | 101 |
| 45 | TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations | American Journal of Human Genetics | 2015 | 101 |
| 46 | DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies | European Journal of Human Genetics | 2015 | 101 |
| 47 | BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition | Human Mutation | 2011 | 100 |
| 48 | A summary of 20 CACNA1F mutations identified in 36 families with incomplete X-linked congenital stationary night blindness, and characterization of splice variants | Human Genetics | 2001 | 99 |
| 49 | Muenke syndrome (FGFR3‐related craniosynostosis): Expansion of the phenotype and review of the literature | American Journal of Medical Genetics, Part A | 2007 | 99 |
| 50 | Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: A Ras/MAPK pathway syndrome | American Journal of Medical Genetics, Part A | 2011 | 99 |
