| # | Title | Journal | Year | Citations |
|---|
| 1 | Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5 | American Journal of Human Genetics | 2014 | 171 |
| 2 | Genetic Testing for Hereditary Pancreatitis: Guidelines for Indications, Counselling, Consent and Privacy Issues | Pancreatology | 2001 | 134 |
| 3 | Allelic imbalance at theLKB1 (STK11) locus in tumours from patients with Peutz-Jeghers' syndrome provides evidence for a hamartoma-(adenoma)-carcinoma sequence | | 1999 | 85 |
| 4 | Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD) | Nature Genetics | 2011 | 84 |
| 5 | PORCNmutations in focal dermal hypoplasia: coping with lethality | Human Mutation | 2009 | 64 |
| 6 | Analysis of short stature homeobox-containing gene ( SHOX ) and auxological phenotype in dyschondrosteosis and isolated Madelung deformity | Human Genetics | 2001 | 60 |
| 7 | Interstitial 22q13 deletions not involving SHANK3 gene: A new contiguous gene syndrome | American Journal of Medical Genetics, Part A | 2014 | 49 |
| 8 | Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness | Cancer Research | 2020 | 39 |
| 9 | Mutations in CKAP2L, the Human Homolog of the Mouse Radmis Gene, Cause Filippi Syndrome | American Journal of Human Genetics | 2014 | 34 |
| 10 | Influence of the MTHFR genotype on the rate of malformations following exposure to antiepileptic drugs in utero | European Journal of Medical Genetics | 2007 | 29 |
| 11 | Genetic counseling for hereditary pancreatitis – the role of molecular genetics testing for the cationic trypsinogen gene, cystic fibrosis and serine protease inhibitor Kazal type 1 | Gastroenterology Clinics of North America | 2004 | 21 |
| 12 | Autosomal dominant inheritance of Weaver syndrome. | Journal of Medical Genetics | 1997 | 19 |
| 13 | Bisphosphonate therapy for spinal osteoporosis in Hajdu-Cheney syndrome – new data and literature review | Orphanet Journal of Rare Diseases | 2018 | 19 |
| 14 | A syndromic form of Pierre Robin sequence is caused by 5q23 deletions encompassing FBN2 and PHAX | European Journal of Medical Genetics | 2014 | 18 |
| 15 | Twin–twin confusion syndrome: Blood chimerism in opposite sex dizygotic twins | Journal of Obstetrics and Gynaecology | 2011 | 5 |
| 16 | Beyond organ retention: the new human tissue bill | Lancet, The | 2004 | 4 |
| 17 | Surgical implications of the Smith–Lemli–Opitz syndrome | Pediatric Surgery International | 2005 | 4 |
| 18 | Retained human tissues: a molecular genetics goldmine or modern grave robbing? A legal approach to obtaining and using stored human samples | Medicine and Law | 2003 | 4 |
| 19 | Angelman and Prader-Willi syndromes | Current Paediatrics | 1997 | 0 |
