De novo mutation hotspots in homologous protein domains identify function-altering mutations in neurodevelopmental disorders
Wiel, Laurens, Hampstead, Juliet E., Venselaar, Hanka, Vissers, Lisenka E.L.M., Brunner, Han G., Pfundt, Rolph, Vriend, Gerrit, Veltman, Joris A., Gilissen, Christian
Published in American journal of human genetics (05.01.2023)
Published in American journal of human genetics (05.01.2023)
Get full text
Journal Article
Systematic analysis of paralogous regions in 41,755 exomes uncovers clinically relevant variation
Steyaert, Wouter, Haer-Wigman, Lonneke, Pfundt, Rolph, Hellebrekers, Debby, Steehouwer, Marloes, Hampstead, Juliet, de Boer, Elke, Stegmann, Alexander, Yntema, Helger, Kamsteeg, Erik-Jan, Brunner, Han, Hoischen, Alexander, Gilissen, Christian
Published in Nature communications (27.10.2023)
Published in Nature communications (27.10.2023)
Get full text
Journal Article
Genomic instability in non–breast or ovarian malignancies of individuals with germline pathogenic variants in BRCA1/2
Elze, Lisa, van der Post, Rachel S, Vos, Janet R, Mensenkamp, Arjen R, Pamidimarri Naga, Samhita, Hampstead, Juliet E, Vermeulen, Emma, Oorsprong, Michiel, Hofste, Tom, Simons, Michiel, Nagtegaal, Iris D, Hoogerbrugge, Nicoline, de Voer, Richarda M, Ligtenberg, Marjolijn J L
Published in JNCI : Journal of the National Cancer Institute (03.07.2024)
Published in JNCI : Journal of the National Cancer Institute (03.07.2024)
Get full text
Journal Article
Application of metabolite set enrichment analysis on untargeted metabolomics data prioritises relevant pathways and detects novel biomarkers for inherited metabolic disorders
Hoegen, Brechtje, Hampstead, Juliet E., Engelke, Udo F.H., Kulkarni, Purva, Wevers, Ron A., Brunner, Han G., Coene, Karlien L. M., Gilissen, Christian
Published in Journal of inherited metabolic disease (01.07.2022)
Published in Journal of inherited metabolic disease (01.07.2022)
Get full text
Journal Article
Differences in the number of de novo mutations between individuals are due to small family-specific effects and stochasticity
Goldmann, Jakob M, Hampstead, Juliet E, Wong, Wendy S W, Wilfert, Amy B, Turner, Tychele N, Jonker, Marianne A, Bernier, Raphael, Huynen, Martijn A, Eichler, Evan E, Veltman, Joris A, Maxwell, George L, Gilissen, Christian
Published in Genome research (01.09.2021)
Published in Genome research (01.09.2021)
Get full text
Journal Article
Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein
de Boer, Elke, Ockeloen, Charlotte W., Kampen, Rosalie A., Hampstead, Juliet E., Dingemans, Alexander J.M., Rots, Dmitrijs, Lütje, Lukas, Ashraf, Tazeen, Baker, Rachel, Barat-Houari, Mouna, Angle, Brad, Chatron, Nicolas, Denommé-Pichon, Anne-Sophie, Devinsky, Orrin, Dubourg, Christèle, Elmslie, Frances, Elloumi, Houda Zghal, Faivre, Laurence, Fitzgerald-Butt, Sarah, Geneviève, David, Goos, Jacqueline A.C., Helm, Benjamin M., Kini, Usha, Lasa-Aranzasti, Amaia, Lesca, Gaetan, Lynch, Sally A., Mathijssen, Irene M.J., McGowan, Ruth, Monaghan, Kristin G., Odent, Sylvie, Pfundt, Rolph, Putoux, Audrey, van Reeuwijk, Jeroen, Santen, Gijs W.E., Sasaki, Erina, Sorlin, Arthur, van der Spek, Peter J., Stegmann, Alexander P.A., Swagemakers, Sigrid M.A., Valenzuela, Irene, Viora-Dupont, Eléonore, Vitobello, Antonio, Ware, Stephanie M., Wéber, Mathys, Gilissen, Christian, Low, Karen J., Fisher, Simon E., Vissers, Lisenka E.L.M., Wong, Maggie M.K., Kleefstra, Tjitske
Published in Genetics in medicine (01.10.2022)
Published in Genetics in medicine (01.10.2022)
Get full text
Journal Article
Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland
Wright, Caroline F., Campbell, Patrick, Eberhardt, Ruth Y., Aitken, Stuart, Perrett, Daniel, Brent, Simon, Danecek, Petr, Gardner, Eugene J., Chundru, V. Kartik, Lindsay, Sarah J., Andrews, Katrina, Hampstead, Juliet, Kaplanis, Joanna, Samocha, Kaitlin E., Middleton, Anna, Foreman, Julia, Hobson, Rachel J., Parker, Michael J., Martin, Hilary C., FitzPatrick, David R., Hurles, Matthew E., Firth, Helen V.
Published in The New England journal of medicine (27.04.2023)
Published in The New England journal of medicine (27.04.2023)
Get full text
Journal Article
Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland
Wright, Caroline F., Campbell, Patrick, Eberhardt, Ruth Y., Aitken, Stuart, Perrett, Daniel, Brent, Simon, Danecek, Petr, Gardner, Eugene J., Chundru, V. Kartik, Lindsay, Sarah J., Andrews, Katrina, Hampstead, Juliet, Kaplanis, Joanna, Samocha, Kaitlin E., Middleton, Anna, Foreman, Julia, Hobson, Rachel J., Parker, Michael J., Martin, Hilary C., FitzPatrick, David R., Hurles, Matthew E., Firth, Helen V.
Published in The New England journal of medicine (12.04.2023)
Published in The New England journal of medicine (12.04.2023)
Get full text
Journal Article
Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein
de Boer, Elke, Ockeloen, Charlotte W., Kampen, Rosalie A., Hampstead, Juliet E., Dingemans, Alexander J.M., Rots, Dmitrijs, Lütje, Lukas, Ashraf, Tazeen, Baker, Rachel, Barat-Houari, Mouna, Angle, Brad, Chatron, Nicolas, Denommé-Pichon, Anne-Sophie, Devinsky, Orrin, Dubourg, Christèle, Elmslie, Frances, Elloumi, Houda Zghal, Faivre, Laurence, Fitzgerald-Butt, Sarah, Geneviève, David, Goos, Jacqueline A.C., Helm, Benjamin M., Kini, Usha, Lasa-Aranzasti, Amaia, Lesca, Gaetan, Lynch, Sally A., Mathijssen, Irene M.J., McGowan, Ruth, Monaghan, Kristin G., Odent, Sylvie, Pfundt, Rolph, Putoux, Audrey, van Reeuwijk, Jeroen, Santen, Gijs W.E., Sasaki, Erina, Sorlin, Arthur, van der Spek, Peter J., Stegmann, Alexander P.A., Swagemakers, Sigrid M.A., Valenzuela, Irene, Viora-Dupont, Eléonore, Vitobello, Antonio, Ware, Stephanie M., Wéber, Mathys, Gilissen, Christian, Low, Karen J., Fisher, Simon E., Vissers, Lisenka E.L.M., Wong, Maggie M.K., Kleefstra, Tjitske
Published in Genetics in medicine (01.11.2023)
Published in Genetics in medicine (01.11.2023)
Get full text
Journal Article
Stochasticity explains differences in the number of de novo mutations between families
Goldmann, Jakob M, Hampstead, Juliet, Wong, Wendy Sw, Wilfert, Amy B, Turner, Tychele, Jonker, Marianne A, Bernier, Raphael, Huynen, Martijn A, Eichler, Evan E, Veltman, Joris A, Maxwell, George L, Gilissen, Christian
Published in bioRxiv (20.09.2020)
Published in bioRxiv (20.09.2020)
Get full text
Paper