| # | Title | Journal | Year | Citations |
|---|
| 1 | Syndromes with supernumerary teeth | American Journal of Medical Genetics, Part A | 2016 | 55 |
| 2 | GREMLIN 2 Mutations and Dental Anomalies | Journal of Dental Research | 2015 | 49 |
| 3 | WNT10B mutations associated with isolated dental anomalies | Clinical Genetics | 2018 | 37 |
| 4 | Genetic regulatory pathways of split‐hand/foot malformation | Clinical Genetics | 2019 | 26 |
| 5 | Periodontal disease and FAM20A mutations | Journal of Human Genetics | 2017 | 19 |
| 6 | ADAMTSL1 and mandibular prognathism | Clinical Genetics | 2019 | 14 |
| 7 | Isolated dentinogenesis imperfecta with glass‐like enamel caused by COL1A2 mutation | American Journal of Medical Genetics, Part A | 2018 | 13 |
| 8 | Osteogenesis imperfecta with ectopic mineralizations in dentin and cementum and a COL1A2 mutation | Journal of Human Genetics | 2018 | 12 |
| 9 | Split hand-foot malformation and a novel WNT10B mutation | European Journal of Medical Genetics | 2018 | 12 |
| 10 | SERPINA1, generalized pustular psoriasis, and adult‐onset immunodeficiency | Journal of Dermatology | 2021 | 12 |
| 11 | Making extra teeth: Lessons from a TRPS1 mutation | American Journal of Medical Genetics, Part A | 2017 | 11 |
| 12 | Mutations in LRP5 and BMP4 are associated with mesiodens, tooth agenesis, root malformation, and oral exostoses | Clinical Genetics | 2022 | 11 |
| 13 | Cutis laxa with pulmonary emphysema, conjunctivochalasis, nasolacrimal duct obstruction, abnormal hair, and a novel FBLN5 mutation | American Journal of Medical Genetics, Part A | 2014 | 10 |
| 14 | TFAP2B mutation and dental anomalies | Journal of Human Genetics | 2017 | 10 |
| 15 | WNT1-associated osteogenesis imperfecta with atrophic frontal lobes and arachnoid cysts | Journal of Human Genetics | 2019 | 10 |
| 16 | Twins with hereditary sensory and autonomic neuropathy type IV with preserved periodontal sensation | European Journal of Medical Genetics | 2014 | 9 |
| 17 | All enamel is not created equal:Supports from a novel FAM83H mutation | American Journal of Medical Genetics, Part A | 2016 | 9 |
| 18 | Root dentin anomaly and a PLG mutation | European Journal of Medical Genetics | 2014 | 8 |
| 19 | BCOR mutations and unstoppable root growth: a commentary on oculofaciocardiodental syndrome: novel BCOR mutations and expression in dental cells | Journal of Human Genetics | 2014 | 8 |
| 20 | Al-Awadi-Raas-Rothschild syndrome with dental anomalies and a novel WNT7A mutation | European Journal of Medical Genetics | 2017 | 8 |
| 21 | Mutations in LRP6 highlight the role of WNT signaling in oral exostoses and dental anomalies | Archives of Oral Biology | 2022 | 8 |
| 22 | Missense Pathogenic variants in KIF4A Affect Dental Morphogenesis Resulting in X-linked Taurodontism, Microdontia and Dens-Invaginatus | Frontiers in Genetics | 2019 | 7 |
| 23 | Treacher Collins syndrome: A novel TCOF1 mutation and monopodial stapes | Clinical Otolaryngology | 2020 | 7 |
| 24 | Mutations in the WLS are associated with dental anomalies, torus palatinus, and torus mandibularis | European Journal of Orthodontics | 0 | 7 |
| 25 | Cryptophthalmos, dental anomalies, oral vestibule defect, and a novel FREM2 mutation | Journal of Human Genetics | 2022 | 6 |
| 26 | Harboyan syndrome: novel SLC4A11 mutation, clinical manifestations, and outcome of corneal transplantation | Journal of Human Genetics | 2021 | 5 |
| 27 | A novel P3H1 mutation is associated with osteogenesis imperfecta type VIII and dental anomalies | Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology | 2021 | 5 |
| 28 | Expanding genotypic and phenotypic spectrums of LTBP3 variants in dental anomalies and short stature syndrome | Clinical Genetics | 2022 | 5 |
| 29 | Novel Dental Anomaly–associated Mutations in WNT10A Protein Binding Sites | International Dental Journal | 2022 | 5 |
| 30 | Preaxial polydactyly associated with a MSX1 mutation and report of two novel mutations | American Journal of Medical Genetics, Part A | 2016 | 4 |
| 31 | Oral manifestations in patients and dogs with mucopolysaccharidosis Type VII | American Journal of Medical Genetics, Part A | 2019 | 3 |
| 32 | Loss of Function TGFBR2 Variant as a Contributing Factor in Generalized Pustular Psoriasis and Adult-Onset Immunodeficiency | Genes | 2023 | 3 |
| 33 | SERPINB3, Adult-Onset Immunodeficiency, and Generalized Pustular Psoriasis | Genes | 2023 | 3 |
| 34 | Rare Variants in LRP4 Are Associated with Mesiodens, Root Maldevelopment, and Oral Exostoses in Humans | Biology | 2023 | 3 |
| 35 | CACNA1S mutation‐associated dental anomalies: A calcium channelopathy | Oral Diseases | 0 | 3 |
| 36 | A truncating variant in SERPINA3, skin pustules and adult‐onset immunodeficiency | Journal of Dermatology | 2021 | 2 |
| 37 | WNT10A variant and severe scoliosis? | Journal of Dermatology | 2022 | 2 |
| 38 | Subtotal Parathyroidectomy Successfully Controls Calcium Levels of Patients with Neonatal Severe Hyperparathyroidism Carrying a Novel CASR Mutation | Hormone Research in Paediatrics | 2023 | 2 |
| 39 | A Founder Intronic Variant in P3H1 Likely Results in Aberrant Splicing and Protein Truncation in Patients of Karen Descent with Osteogenesis Imperfecta Type VIII | Genes | 2023 | 2 |
| 40 | Genetic Variants in Protein Tyrosine Phosphatase Non-Receptor Type 23 Are Responsible for Mesiodens Formation | Biology | 2023 | 2 |
| 41 | Are dental anomalies associated with Tietz syndrome? | European Journal of Dermatology | 2020 | 1 |
| 42 | Dental Anomalies in Ciliopathies: Lessons from Patients with BBS2, BBS7, and EVC2 Mutations | Genes | 2023 | 1 |
| 43 | Response to the Letter to the Editor by Idil Kurtulus-Waschulewski; Gerhard Wahl, Prof. Dr.; Katalyn Dittrich; Volker Schuster | European Journal of Medical Genetics | 2015 | 0 |
| 44 | Rare Genetic Variants in Human APC Are Implicated in Mesiodens and Isolated Supernumerary Teeth | International Journal of Molecular Sciences | 2023 | 0 |
| 45 | A Mutation in CACNA1S Is Associated with Multiple Supernumerary Cusps and Root Maldevelopment | Diagnostics | 2023 | 0 |
| 46 | Heterozygous Variants in FREM2 Are Associated with Mesiodens, Supernumerary Teeth, Oral Exostoses, and Odontomas | Diagnostics | 2023 | 0 |
