| # | Title | Journal | Year | Citations |
|---|
| 1 | A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD | Neuron | 2011 | 3,833 |
| 2 | Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III | Nature Genetics | 1997 | 812 |
| 3 | Comparison of phenotypes of polycystic kidney disease types 1 and 2 | Lancet, The | 1999 | 547 |
| 4 | Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum | Nature Genetics | 2000 | 512 |
| 5 | A Spectrum of ABCC6 Mutations Is Responsible for Pseudoxanthoma Elasticum | American Journal of Human Genetics | 2001 | 442 |
| 6 | Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome) | Nature Genetics | 2011 | 440 |
| 7 | Characterization of Mutations in Patients with Multiple Endocrine Neoplasia Type 1 | American Journal of Human Genetics | 1998 | 421 |
| 8 | Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database | Nature Genetics | 2014 | 410 |
| 9 | High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies | American Journal of Human Genetics | 2017 | 337 |
| 10 | Genotype-Phenotype Associations in Sotos Syndrome: An Analysis of 266 Individuals with NSD1 Aberrations | American Journal of Human Genetics | 2005 | 298 |
| 11 | The molecular basis of genetic dominance. | Journal of Medical Genetics | 1994 | 297 |
| 12 | Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability | Nature Genetics | 2014 | 280 |
| 13 | Imprinting in Albright's hereditary osteodystrophy. | Journal of Medical Genetics | 1993 | 275 |
| 14 | NSD1 Mutations Are the Major Cause of Sotos Syndrome and Occur in Some Cases of Weaver Syndrome but Are Rare in Other Overgrowth Phenotypes | American Journal of Human Genetics | 2003 | 273 |
| 15 | Sotos syndrome: a study of the diagnostic criteria and natural history. | Journal of Medical Genetics | 1994 | 263 |
| 16 | De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome | Nature Genetics | 2012 | 237 |
| 17 | Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders | American Journal of Human Genetics | 2018 | 204 |
| 18 | HFE mutations, iron deficiency and overload in 10 500 blood donors | British Journal of Haematology | 2001 | 201 |
| 19 | Anticipation in myotonic dystrophy: new light on an old problem | American Journal of Human Genetics | 1992 | 201 |
| 20 | A prospective study of neurofibromatosis type 1 cancer incidence in the UK | British Journal of Cancer | 2006 | 200 |
| 21 | DNA mismatch repair deficiency in sporadic colorectal cancer and Lynch syndrome | Histopathology | 2010 | 198 |
| 22 | Malfunction of Nuclease ERCC1-XPF Results in Diverse Clinical Manifestations and Causes Cockayne Syndrome, Xeroderma Pigmentosum, and Fanconi Anemia | American Journal of Human Genetics | 2013 | 178 |
| 23 | Mutation of the Variant α-Tubulin TUBA8 Results in Polymicrogyria with Optic Nerve Hypoplasia | American Journal of Human Genetics | 2009 | 151 |
| 24 | Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height | Oncotarget | 2011 | 145 |
| 25 | High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correlation | Human Mutation | 2015 | 143 |
| 26 | How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum | European Journal of Human Genetics | 2012 | 142 |
| 27 | Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism | Journal of Medical Genetics | 2014 | 141 |
| 28 | Overlapping cortical malformations and mutations in TUBB2B and TUBA1A | Brain | 2013 | 133 |
| 29 | The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care | Genetics in Medicine | 2016 | 127 |
| 30 | Polymicrogyria and deletion 22q11.2 syndrome: Window to the etiology of a common cortical malformation | American Journal of Medical Genetics, Part A | 2006 | 125 |
| 31 | Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype | American Journal of Medical Genetics, Part A | 2013 | 119 |
| 32 | De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome | Nature Genetics | 2014 | 118 |
| 33 | Genetic professionals' reports of nondisclosure of genetic risk information within families | European Journal of Human Genetics | 2005 | 117 |
| 34 | Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases | European Journal of Human Genetics | 2015 | 115 |
| 35 | Phenotypic spectrum associated with CASK loss-of-function mutations | Journal of Medical Genetics | 2011 | 114 |
| 36 | Elements of morphology: Standard terminology for the ear | American Journal of Medical Genetics, Part A | 2009 | 108 |
| 37 | European guidelines for constitutional cytogenomic analysis | European Journal of Human Genetics | 2019 | 108 |
| 38 | Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6 | American Journal of Human Genetics | 2015 | 103 |
| 39 | The molecular genetics of tuberous sclerosis | Human Molecular Genetics | 1994 | 102 |
| 40 | Reconstructing the Population History of European Romani from Genome-wide Data | Current Biology | 2012 | 101 |
| 41 | Parental origin and germline mosaicism of deletions and duplications of the dystrophin gene: a European study | Human Genetics | 1992 | 100 |
| 42 | EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy | Brain | 2016 | 99 |
| 43 | De Novo Loss-of-Function Mutations in SETD5, Encoding a Methyltransferase in a 3p25 Microdeletion Syndrome Critical Region, Cause Intellectual Disability | American Journal of Human Genetics | 2014 | 96 |
| 44 | Repositioning the patient: the implications of being ‘at risk’ | Social Science and Medicine | 2005 | 93 |
| 45 | Heterozygous Loss-of-Function Mutations in YAP1 Cause Both Isolated and Syndromic Optic Fissure Closure Defects | American Journal of Human Genetics | 2014 | 93 |
| 46 | Tubulin genes and malformations of cortical development | European Journal of Medical Genetics | 2018 | 93 |
| 47 | Mutation in Rab3 GTPase-Activating Protein (RAB3GAP) Noncatalytic Subunit in a Kindred with Martsolf Syndrome | American Journal of Human Genetics | 2006 | 91 |
| 48 | De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development | Nature Genetics | 2017 | 88 |
| 49 | Consensus for genes to be included on cancer panel tests offered by UK genetics services: guidelines of the UK Cancer Genetics Group | Journal of Medical Genetics | 2018 | 88 |
| 50 | High insulin-like growth factor-2 (IGF-2) gene expression is an independent predictor of poor survival for patients with advanced stage serous epithelial ovarian cancer | Gynecologic Oncology | 2005 | 84 |
