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Author/Creator Abbott, Kristin M.

1. A pipeline‐friendly software tool for genome diagnostics to prioritize genes by matching patient symptoms to literature. Issue 1 (10th August 2020)

Authors:
van der Velde, K. Joeri; van den Hoek, Sander; van Dijk, Freerk; Hendriksen, Dennis; van Diemen, Cleo C.; Johansson, Lennart F.; Abbott, Kristin M.; Deelen, Patrick; Sikkema‐Raddatz, Birgit; Swertz, Morris A.
Journal:
Advanced genetics
Issue:
Volume 1:Issue 1(2021)
Page Start:
n/a
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. A pipeline‐friendly software tool for genome diagnostics to prioritize genes by matching patient symptoms to literature. Issue 1 (10th August 2020)

Authors:
van der Velde, K. Joeri; van den Hoek, Sander; van Dijk, Freerk; Hendriksen, Dennis; van Diemen, Cleo C.; Johansson, Lennart F.; Abbott, Kristin M.; Deelen, Patrick; Sikkema‐Raddatz, Birgit; Swertz, Morris A.
Journal:
Advanced genetics
Issue:
Volume 1:Issue 1(2021)
Page Start:
n/a
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. Biallelic TMEM260 variants cause truncus arteriosus, with or without renal defects. Issue 1 (11th October 2021)

Authors:
Pagnamenta, Alistair T.; Jackson, Adam; Perveen, Rahat; Beaman, Glenda; Petts, Gemma; Gupta, Asheeta; Hyder, Zerin; Chung, Brian Hon‐Yin; Kan, Anita Sik‐Yau; Cheung, Ka Wang; Kerstjens‐Frederikse, Wilhelmina S.; Abbott, Kristin M.; Elpeleg, Orly; Taylor, Jenny C.; Banka, Siddharth; Ta‐Shma, Asaf
Journal:
Clinical genetics
Issue:
Volume 101:Issue 1(2022)
Page Start:
127
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

4. Evaluation of CADD Scores in Curated Mismatch Repair Gene Variants Yields a Model for Clinical Validation and Prioritization. Issue 7 (20th May 2015)

Authors:
van der Velde, K. Joeri; Kuiper, Joël; Thompson, Bryony A.; Plazzer, John‐Paul; van Valkenhoef, Gert; de Haan, Mark; Jongbloed, Jan D.H.; Wijmenga, Cisca; de Koning, Tom J.; Abbott, Kristin M.; Sinke, Richard; Spurdle, Amanda B.; Macrae, Finlay; Genuardi, Maurizio; Sijmons, Rolf H.; Swertz, Morri...
Journal:
Human mutation
Issue:
Volume 36:Issue 7(2015:Jul.)
Page Start:
712
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

5. Fanconi anaemia presenting as acute myeloid leukaemia and myelodysplastic syndrome in adulthood: a family report on co‐occurring FANCC and CHEK2 mutations. (16th May 2018)

Authors:
Berger, Gerbrig; van den Berg, Eva; Smetsers, Stephanie; Leegte, Beike K.; Sijmons, Rolf H.; Abbott, Kristin M.; Mulder, André B.; Vellenga, Edo
Journal:
British journal of haematology
Issue:
Volume 184:Number 6(2019)
Page Start:
1071
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗