| # | Title | Journal | Year | Citations |
|---|
| 1 | The Yield of First-Time Endoscopic Ultrasonography in Screening Individuals at a High Risk of Developing Pancreatic Cancer | American Journal of Gastroenterology | 2009 | 241 |
| 2 | Non-pheochromocytoma (PCC)/paraganglioma (PGL) tumors in patients with succinate dehydrogenase-related PCC–PGL syndromes: a clinicopathological and molecular analysis | European Journal of Endocrinology | 2014 | 219 |
| 3 | The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature | Genetics in Medicine | 2015 | 204 |
| 4 | Functional Dissection of the Enhancer Repertoire in Human Embryonic Stem Cells | Cell Stem Cell | 2018 | 151 |
| 5 | Oncogenic GNAQ mutations are not correlated with disease-free survival in uveal melanoma | British Journal of Cancer | 2009 | 139 |
| 6 | High Cumulative Risk of Intussusception in Patients With Peutz–Jeghers Syndrome: Time to Update Surveillance Guidelines? | American Journal of Gastroenterology | 2011 | 138 |
| 7 | Novel Types of Mutation Responsible for the Dermatosparactic Type of Ehlers–Danlos Syndrome (Type VIIC) and Common Polymorphisms in the ADAMTS2 Gene | Journal of Investigative Dermatology | 2004 | 116 |
| 8 | Prospective evaluation of molecular screening for Lynch syndrome in patients with endometrial cancer ≤ 70 years | Gynecologic Oncology | 2012 | 115 |
| 9 | Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients | European Journal of Human Genetics | 2010 | 114 |
| 10 | Rate of disease progression during long-term follow-up of patients with late-onset Pompe disease | Neuromuscular Disorders | 2009 | 95 |
| 11 | European recommendations and quality assurance for cytogenomic analysis of haematological neoplasms | Leukemia | 2019 | 92 |
| 12 | Interplay between BRCA1 and RHAMM Regulates Epithelial Apicobasal Polarization and May Influence Risk of Breast Cancer | PLoS Biology | 2011 | 91 |
| 13 | Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer | PLoS Genetics | 2010 | 85 |
| 14 | Definition and treatment of arrhythmogenic cardiomyopathy: an updated expert panel report | European Journal of Heart Failure | 2019 | 84 |
| 15 | Factors Affecting Sensitivity and Specificity of Screening Mammography and MRI in Women with an Inherited Risk for Breast Cancer | Breast Cancer Research and Treatment | 2006 | 83 |
| 16 | Bone, joint and tooth development in mucopolysaccharidoses: Relevance to therapeutic options | Biochimica Et Biophysica Acta - Molecular Basis of Disease | 2011 | 75 |
| 17 | Family system characteristics and psychological adjustment to cancer susceptibility genetic testing: a prospective study | Clinical Genetics | 2006 | 62 |
| 18 | Opening the psychological black box in genetic counseling. The psychological impact of DNA testing is predicted by the counselees' perception, the medical impact by the pathogenic or uninformative BRCA1/2‐result | Psycho-Oncology | 2012 | 60 |
| 19 | Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders | American Journal of Human Genetics | 2020 | 58 |
| 20 | Seminal Plasma Cobalamin Significantly Correlates With Sperm Concentration in Men Undergoing IVF or ICSI Procedures | Journal of Andrology | 2007 | 57 |
| 21 | A simple method for co-segregation analysis to evaluate the pathogenicity of unclassified variants; BRCA1 and BRCA2 as an example | BMC Cancer | 2009 | 57 |
| 22 | Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancer | Science Advances | 2020 | 56 |
| 23 | Confined placental mosaicism and the association with pregnancy outcome and fetal growth: a review of the literature | Human Reproduction Update | 2021 | 56 |
| 24 | Low bone mass in Pompe disease | Bone | 2010 | 53 |
| 25 | Nutrition and Genes in the Development of Orofacial Clefting | Nutrition Reviews | 2006 | 52 |
| 26 | Tumours with loss of MSH6 expression are MSI-H when screened with a pentaplex of five mononucleotide repeats | British Journal of Cancer | 2010 | 51 |
| 27 | Strong Association of Variants around FOXE1 and Orofacial Clefting | Journal of Dental Research | 2014 | 51 |
| 28 | Pre‐ and postnatal diagnosis and outcome of fetuses and neonates with esophageal atresia and tracheoesophageal fistula | Prenatal Diagnosis | 2010 | 50 |
| 29 | Genetic basis of alpha‐aminoadipic and alpha‐ketoadipic aciduria | Journal of Inherited Metabolic Disease | 2015 | 50 |
| 30 | Stable X Chromosome Reactivation in Female Human Induced Pluripotent Stem Cells | Stem Cell Reports | 2015 | 49 |
| 31 | Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies | Genome Medicine | 2019 | 49 |
| 32 | The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen–Goldberg syndrome | European Journal of Human Genetics | 2015 | 48 |
| 33 | Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants ofCOH1 | Human Mutation | 2009 | 44 |
| 34 | Endometrial Cancer Risk in Women With Germline BRCA1 or BRCA2 Mutations: Multicenter Cohort Study | Journal of the National Cancer Institute | 2021 | 44 |
| 35 | Cost-effectiveness of routine screening for Lynch syndrome in endometrial cancer patients up to 70 years of age | Gynecologic Oncology | 2016 | 43 |
| 36 | Cost-effectiveness of routine screening for Lynch syndrome in colorectal cancer patients up to 70 years of age | Genetics in Medicine | 2016 | 42 |
| 37 | Genetic testing for Lynch syndrome: family communication and motivation | Familial Cancer | 2016 | 42 |
| 38 | FISH analysis of 15 chromosomes in human day 4 and 5 preimplantation embryos: the added value of extended aneuploidy detection | Prenatal Diagnosis | 2007 | 40 |
| 39 | Phenotypes of craniofrontonasal syndrome in patients with a pathogenic mutation in EFNB1 | European Journal of Human Genetics | 2014 | 40 |
| 40 | Decreased systemic IL-7 and soluble IL-7Rα in multiple sclerosis patients | Genes and Immunity | 2012 | 39 |
| 41 | Expanding the genetic and phenotypic spectrum of popliteal pterygium disorders | American Journal of Medical Genetics, Part A | 2015 | 38 |
| 42 | The phenotype of SDHB germline mutation carriers: a nationwide study | European Journal of Endocrinology | 2017 | 38 |
| 43 | Mutation update for the SATB2 gene | Human Mutation | 2019 | 38 |
| 44 | Congenital hydrocephalus in clinical practice: A genetic diagnostic approach | European Journal of Medical Genetics | 2011 | 36 |
| 45 | Perceiving cancer-risks and heredity-likelihood in genetic-counseling: how counselees recall and interpret BRCA 1/2-test results | Clinical Genetics | 2011 | 35 |
| 46 | The counselees' self‐reported request for psychological help in genetic counseling for hereditary breast/ovarian cancer: not only psychopathology matters | Psycho-Oncology | 2013 | 35 |
| 47 | Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy | Nature Communications | 2020 | 35 |
| 48 | Lessons learned from 40 novel PIGA patients and a review of the literature | Epilepsia | 2020 | 32 |
| 49 | Exploring the short-term impact of DNA-testing in breast cancer patients: The counselees’ perception matters, but the actual BRCA1/2 result does not | Patient Education and Counseling | 2012 | 31 |
| 50 | Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and Nails | American Journal of Human Genetics | 2019 | 31 |
