| Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus G Beunders, E Voorhoeve, C Golzio, LM Pardo, JA Rosenfeld, ... The American Journal of Human Genetics 92 (2), 210-220, 2013 | 181 | 2013 |
| High resolution array analysis: diagnosing pregnancies with abnormal ultrasound findings M Tyreman, KM Abbott, LR Willatt, R Nash, C Lees, J Whittaker, I Simonic Journal of medical genetics 46 (8), 531-541, 2009 | 144 | 2009 |
| Improving the diagnostic yield of exome-sequencing, by predicting gene-phenotype associations using large-scale gene expression analysis P Deelen, S van Dam, JC Herkert, JM Karjalainen, H Brugge, KM Abbott, ... bioRxiv, 375766, 2018 | 127 | 2018 |
| Rapid Targeted Genomics in Critically Ill Newborns CC van Diemen, WS Kerstjens-Frederikse, KA Bergman, TJ de Koning, ... Pediatrics, e20162854, 2017 | 120 | 2017 |
| Odour signals major histocompatibility complex genotype in an Old World monkey JM Setchell, S Vaglio, KM Abbott, J Moggi-Cecchi, F Boscaro, ... Proceedings of the Royal Society of London B: Biological Sciences, rspb20100571, 2010 | 109 | 2010 |
| Re-emergence of acute myeloid leukemia in donor cells following allogeneic transplantation in a family with a germline DDX41 mutation G Berger, E van den Berg, B Sikkema-Raddatz, KM Abbott, RJ Sinke, ... Leukemia 31 (2), 520, 2017 | 103 | 2017 |
| Opposites attract: MHC‐associated mate choice in a polygynous primate JM Setchell, MJE Charpentier, KM Abbott, EJ Wickings, LA Knapp Journal of evolutionary biology 23 (1), 136-148, 2010 | 103 | 2010 |
| Population-based preconception carrier screening: how potential users from the general population view a test for 50 serious diseases M Plantinga, E Birnie, KM Abbott, RJ Sinke, AM Lucassen, J Schuurmans, ... European Journal of human genetics 24 (10), 1417, 2016 | 96 | 2016 |
| Calling genotypes from public RNA-sequencing data enables identification of genetic variants that affect gene-expression levels P Deelen, DV Zhernakova, M de Haan, M van der Sijde, MJ Bonder, ... Genome medicine 7 (1), 30, 2015 | 80 | 2015 |
| Gavin: Gene-aware variant interpretation for medical sequencing KJ van der Velde, EN de Boer, CC van Diemen, B Sikkema-Raddatz, ... Genome biology 18 (1), 6, 2017 | 70 | 2017 |
| Is brightest best? Testing the Hamilton-Zuk hypothesis in mandrills JM Setchell, MJE Charpentier, KM Abbott, EJ Wickings, LA Knapp International Journal of Primatology 30 (6), 825-844, 2009 | 67 | 2009 |
| Toward an effective exome-based genetic testing strategy in pediatric dilated cardiomyopathy JC Herkert, KM Abbott, E Birnie, MT Meems-Veldhuis, LG Boven, ... Genetics in Medicine, 2018 | 51 | 2018 |
| Evaluation of CADD scores in curated mismatch repair gene variants yields a model for clinical validation and prioritization KJ Velde, J Kuiper, BA Thompson, JP Plazzer, G Valkenhoef, M Haan, ... Human mutation 36 (7), 712-719, 2015 | 50 | 2015 |
| Testing for post‐copulatory selection for major histocompatibility complex genotype in a semi‐free‐ranging primate population JM Setchell, KM Abbott, JP Gonzalez, LA Knapp American journal of primatology 75 (10), 1021-1031, 2013 | 24 | 2013 |
| High levels of diversity characterize mandrill (Mandrillus sphinx) Mhc-DRB sequences KM Abbott, EJ Wickings, LA Knapp Immunogenetics 58 (8), 628-640, 2006 | 24 | 2006 |
| A de novo 4q34 interstitial deletion of at least 9.3 Mb with no discernible phenotypic effect MS Bateman, SG Mehta, L Willatt, E Selkirk, C Bedwell, S Zwolinski, ... American Journal of Medical Genetics Part A 152 (7), 1764-1769, 2010 | 22 | 2010 |
| A de novo duplication of Xp11. 22–p11. 4 in a girl with intellectual disability, structural brain anomalies, and preferential inactivation of the normal X chromosome ST Holden, A Clarkson, NS Thomas, K Abbott, MR James, L Willatt American Journal of Medical Genetics Part A 152 (7), 1735-1740, 2010 | 19 | 2010 |
| Mate-guarding by male mandrills ( Mandrillus sphinx ) is associated with female MHC genotype JM Setchell, SA Richards, KM Abbott, LA Knapp Behavioral Ecology, arw106, 2016 | 10 | 2016 |
| Ring chromosome 12 with inverted microduplication of 12p13. 3 involving the Von Willebrand Factor gene associated with cryptogenic stroke in a young adult male S Nik-Zainal, PE Cotter, LR Willatt, K Abbott, EW O’Brien European journal of medical genetics 54 (1), 97-101, 2011 | 10 | 2011 |
| Fanconi anaemia presenting as acute myeloid leukaemia and myelodysplastic syndrome in adulthood: a family report on co‐occurring FANCC and CHEK2 mutations G Berger, E van den Berg, S Smetsers, BK Leegte, RH Sijmons, ... British journal of haematology, 2018 | 6 | 2018 |
