| # | Title | Journal | Year | Citations |
|---|
| 1 | Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study | Lancet, The | 2012 | 940 |
| 2 | Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature | Nature Genetics | 2012 | 712 |
| 3 | Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome | Nature Genetics | 1997 | 511 |
| 4 | Angelman syndrome 2005: Updated consensus for diagnostic criteria | American Journal of Medical Genetics, Part A | 2006 | 493 |
| 5 | The molecular basis of human retinal and vitreoretinal diseases | Progress in Retinal and Eye Research | 2010 | 485 |
| 6 | A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism | Nature Genetics | 2006 | 418 |
| 7 | Genetic Heterogeneity in Rubinstein-Taybi Syndrome: Mutations in Both the CBP and EP300 Genes Cause Disease | American Journal of Human Genetics | 2005 | 416 |
| 8 | Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus | Nature | 2011 | 394 |
| 9 | Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair | Nature Genetics | 2009 | 358 |
| 10 | Angelman syndrome: Consensus for diagnostic criteria | American Journal of Medical Genetics Part A | 1995 | 326 |
| 11 | Uniparental disomy 7 in Silver—Russell syndrome and primordial growth retardation | Human Molecular Genetics | 1995 | 289 |
| 12 | Contribution of Global Rare Copy-Number Variants to the Risk of Sporadic Congenital Heart Disease | American Journal of Human Genetics | 2012 | 272 |
| 13 | A Genetic Variation in the Adenosine A2A Receptor Gene (ADORA2A) Contributes to Individual Sensitivity to Caffeine Effects on Sleep | Clinical Pharmacology and Therapeutics | 2007 | 245 |
| 14 | De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome | Nature Genetics | 2011 | 236 |
| 15 | Molecular, cytogenetic, and clinical investigations of Prader-Willi syndrome patients | American Journal of Human Genetics | 1991 | 218 |
| 16 | TRPM1 Is Mutated in Patients with Autosomal-Recessive Complete Congenital Stationary Night Blindness | American Journal of Human Genetics | 2009 | 207 |
| 17 | APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex | Nature | 2010 | 206 |
| 18 | The ?Cat Eye syndrome?: Dicentric small marker chromosome probably derived from a No. 22 (Tetrasomy 22pter?q11) associated with a characteristic phenotype | Human Genetics | 1981 | 188 |
| 19 | Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: lack of genotype/phenotype correlations | Human Molecular Genetics | 1997 | 175 |
| 20 | Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression | Human Mutation | 2010 | 163 |
| 21 | The Spectrum of Mutations in TBX3: Genotype/Phenotype Relationship in Ulnar-Mammary Syndrome | American Journal of Human Genetics | 1999 | 158 |
| 22 | Mutations in CABP4, the Gene Encoding the Ca2+-Binding Protein 4, Cause Autosomal Recessive Night Blindness | American Journal of Human Genetics | 2006 | 153 |
| 23 | NEK1 Mutations Cause Short-Rib Polydactyly Syndrome Type Majewski | American Journal of Human Genetics | 2011 | 151 |
| 24 | De Novo Mutations in the Genome Organizer CTCF Cause Intellectual Disability | American Journal of Human Genetics | 2013 | 151 |
| 25 | Correlation between recent thymic emigrants and CD31+ (PECAM‐1) CD4+ T cells in normal individuals during aging and in lymphopenic children | European Journal of Immunology | 2007 | 144 |
| 26 | Abnormal phenotypes in uniparental disomy (UPD): Fundamental aspects and a critical review with bibliography of UPD other than 15 | | 1999 | 139 |
| 27 | Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypes | Journal of Medical Genetics | 2008 | 138 |
| 28 | Pure red cell aplasia of long duration complicating major ABO- incompatible bone marrow transplantation [see comments] | Blood | 1990 | 137 |
| 29 | Mutations inGRM6Cause Autosomal Recessive Congenital Stationary Night Blindness with a Distinctive Scotopic 15-Hz Flicker Electroretinogram | | 2005 | 136 |
| 30 | Mutation in the Auxiliary Calcium-Channel Subunit CACNA2D4 Causes Autosomal Recessive Cone Dystrophy | American Journal of Human Genetics | 2006 | 135 |
| 31 | Genetic and neurodevelopmental spectrum ofSYNGAP1-associated intellectual disability and epilepsy | Journal of Medical Genetics | 2016 | 135 |
| 32 | Role of the Norrie Disease Pseudoglioma Gene in Sprouting Angiogenesis during Development of the Retinal Vasculature | | 2005 | 129 |
| 33 | Linkage Mapping in 29 Bardet–Biedl Syndrome Families Confirms Loci in Chromosomal Regions 11q13, 15q22.3–q23, and 16q21 | Genomics | 1997 | 125 |
| 34 | YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction | American Journal of Human Genetics | 2017 | 125 |
| 35 | Mice Null for Frizzled4 (Fzd4−/−) Are Infertile and Exhibit Impaired Corpora Lutea Formation and Function1 | Biology of Reproduction | 2005 | 119 |
| 36 | Structural and Functional Abnormalities of Retinal Ribbon Synapses due toCacna2d4Mutation | | 2006 | 118 |
| 37 | Angelman syndrome due to paternal uniparental disomy of chromosome 15: A milder phenotype? | American Journal of Medical Genetics Part A | 1994 | 117 |
| 38 | SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome | Journal of Medical Genetics | 2007 | 114 |
| 39 | Uniparental disomy explains the occurrence of the Angelman or Prader-Willi syndrome in patients with an additional small inv dup(15) chromosome. | Journal of Medical Genetics | 1993 | 111 |
| 40 | Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations | Human Mutation | 2010 | 111 |
| 41 | Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1 | BMC Medical Genetics | 2011 | 109 |
| 42 | Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature | Genetics in Medicine | 2018 | 101 |
| 43 | Mcleod syndrome: A novel mutation, predominant psychiatric manifestations, and distinct striatal imaging findings | Annals of Neurology | 2001 | 99 |
| 44 | Identification and in silico analyses of novelTGFBR1 andTGFBR2 mutations in Marfan syndrome-related disorders | Human Mutation | 2006 | 98 |
| 45 | Genetic heterogeneity in Rubinstein-Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300 | Journal of Medical Genetics | 2007 | 97 |
| 46 | A somatic origin of homologous Robertsonian translocations and isochromosomes | American Journal of Human Genetics | 1994 | 97 |
| 47 | Development of a genotyping microarray for Usher syndrome | Journal of Medical Genetics | 2006 | 94 |
| 48 | Mutation and phenotypic spectrum in patients with cardio‐facio‐cutaneous and Costello syndrome | Clinical Genetics | 2008 | 94 |
| 49 | Growth charts for nose length, nasal protrusion, and philtrum length from birth to 97 years | American Journal of Medical Genetics Part A | 2002 | 91 |
| 50 | Survival with trisomy 18—data from Switzerland | American Journal of Medical Genetics, Part A | 2006 | 88 |
