Kristin M. Abbott
Kristin M. Abbott
University Medical Center Groningen
Geverifieerd e-mailadres voor umcg.nl
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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
1382013
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
1342009
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
972010
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
922010
Rapid Targeted Genomics in Critically Ill Newborns
CC van Diemen, WS Kerstjens-Frederikse, KA Bergman, TJ de Koning, ...
Pediatrics, e20162854, 2017
672017
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
642017
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
632018
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
612016
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
582015
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
512009
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
422017
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
402015
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
292018
High levels of diversity characterize mandrill (Mandrillus sphinx) Mhc-DRB sequences
KM Abbott, EJ Wickings, LA Knapp
Immunogenetics 58 (8), 628-640, 2006
242006
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
202010
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
192013
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
152010
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
62011
Reorganization of dominance rank among adult males in a captive group of tufted capuchins (Cebus apella)
G Byrne, KM Abbott, SJ Suomi
Laboratory Primate Newsletter 35, 1-4, 1996
61996
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
52016
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Artikelen 1–20