Academic Bibliography

Search 200 years of publications by Ghent University researchers.

dr. Kim De Leeneer

ORCID iD: 0000-0002-9319-411X

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- Conference Paper
- C3
DNA sample tracking for diagnostic exome sequencing : a 1-year experience

Peter Ceulemans (UGent) , Matthias De Smet (UGent) , Tom Sante (UGent) , Gertjan Wils (UGent) , Thalia Van Laethem (UGent) , Mauro Alessio Milazzo (UGent) , Jo Vandesompele (UGent) , Frauke Coppieters (UGent) , Steve Lefever (UGent) , Brecht Guillemyn (UGent) , et al.

(2025) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 33(Supplement 1). p.962-962
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- Conference Paper
- C3
Closing the gap : overcoming the challenges of RPGR ORF15 sequencing, a target for gene therapy of X-linked retinitis pigmentosa

Stijn Van de Sompele (UGent) , Marieke De Bruyne (UGent) , Mattias Van Heetvelde (UGent) , Toon Rosseel (UGent) , Bart Leroy (UGent) , Julie De Zaeytijd (UGent) , Brecht Guillemyn (UGent) , Kathleen Claes (UGent) , Kim De Leeneer (UGent) , Miriam Bauwens (UGent) , et al.

(2024) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 32(Supplement 2). p.1332-1333
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- Conference Paper
- C3
Harnessing cDNA analysis to enhance variant classification in cancer predisposition genes

Liesbeth Claeys (UGent) , Suzanne Vanhauwaert (UGent) , Annelies De Jaegher (UGent) , Kim De Leeneer (UGent) , Bram Parton (UGent) , Ilse Coene (UGent) , Martine De Bleeckere (UGent) , Katia De Pauw (UGent) , Arne De Visscher (UGent) , Elke D'Haese (UGent) , et al.

(2024) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 32(Supplement 2). p.1273-1273
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- Conference Paper
- C3
Immunogenomics solves missing heritability and ends the diagnostic odyssey in RAG1-SCID

Marieke De Bruyne (UGent) , Lore Pottie (UGent) , Stijn Van de Sompele (UGent) , Nancy De Cabooter (UGent) , Delfien Bogaert (UGent) , Levi Hoste (UGent) , Toon Rosseel (UGent) , Kim De Leeneer (UGent) , Victoria Bordon, Jana Neirinck (UGent) , et al.

(2024) EUROPEAN JOURNAL OF HUMAN GENETICS. 32(Supplement 2). p.1039-1039
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- Conference Paper
- C3
Expanding molecular and clinical phenotype of Seckel syndrome : ATRIP deficient patient reveals novel insights in ATR signalling pathway

Kathleen Claes (UGent) , Lynn Backers, Elien Beyls (UGent) , Evi Duthoo (UGent) , Bram Parton (UGent) , Veronique Debacker (UGent) , Kim De Leeneer (UGent) , Marieke De Bruyne (UGent) , Levi Hoste (UGent) , Ans Baeyens (UGent) , et al.

(2024) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 32(Supplement 2). p.1549-1550
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- Conference Paper
- C3
ATRIP-deficient patient expands molecular and clinical spectrum of Seckel syndrome

Lynn Backers, Simon Tavernier (UGent) , Mattias Van Heetvelde (UGent) , Bram Parton (UGent) , Ria Roelandt (UGent) , Evi Duthoo (UGent) , Elien Beyls (UGent) , Marieke De Bruyne (UGent) , Kim De Leeneer (UGent) , Ans Baeyens (UGent) , et al.

(2023) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 31(Supplement 1). p.521-521
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- Conference Paper
- C3
BeSolveRD : the Belgian genome resource to resolve rare diseases

Mathilde Geysens, Wouter Bossuyt, Elfride De Baere (UGent) , Kim De Leeneer (UGent) , Koenraad Devriendt, Annelies Dheedene (UGent) , Aime Lumaka, Jeroen Luyten, Gert Matthijs, Björn Menten (UGent) , et al.

(2023) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 31(Supplement 1). p.573-574
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- Journal Article
- A1
- open access
ENIGMA CHEK2gether Project : a comprehensive study identifies functionally impaired CHEK2 germline missense variants associated with increased breast cancer risk

Lenka Stolarova, Petra Kleiblova, Petra Zemankova, Barbora Stastna, Marketa Janatova, Jana Soukupova, Maria Isabel Achatz, Christine Ambrosone, Paraskevi Apostolou, Banu K. Arun, et al.

(2023) CLINICAL CANCER RESEARCH. 29(16). p.3037-3050
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Performance evaluation of three DNA sample tracking tools in a whole exome sequencing workflow

Gertjan Wils (UGent) , Celine Helsmoortel (UGent) , Pieter-Jan Volders (UGent) , Inge Vereecke (UGent) , Mauro Alessio Milazzo (UGent) , Jo Vandesompele (UGent) , Frauke Coppieters (UGent) , Kim De Leeneer (UGent) and Steve Lefever (UGent)

(2022) MOLECULAR DIAGNOSIS & THERAPY. 26(4). p.411-419
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- Journal Article
- A1
- open access
Noncoding aberrations in mismatch repair genes underlie a substantial part of the missing heritability in Lynch syndrome

Iris B.A.W. Te Paske, Arjen R. Mensenkamp, Kornelia Neveling, Nicoline Hoogerbrugge, Marjolijn J.L. Ligtenberg, Richarda M. De Voer, Stéphanie Baert-Desurmont, Kathleen Claes (UGent) , Kim De Leeneer (UGent) , Lisa Elze, et al.

(2022) GASTROENTEROLOGY. 163(6). p.1691-1694.e7

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