Enrichment of colibactin-associated mutational signatures in unexplained colorectal polyposis patients by Terlouw, Diantha, Boot, Arnoud, Ducarmon, Quinten R, Nooij, Sam, Suerink, Manon, van Leerdam, Monique E, van Egmond, Demi, Tops, Carli M, Zwittink, Romy D, Ruano, Dina, Langers, Alexandra M J, Nielsen, Maartje, van Wezel, Tom, Morreau, Hans

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Declining detection rates for APC and biallelic MUTYH variants in polyposis patients, implications for DNA testing policy by Terlouw, Diantha, Suerink, Manon, Singh, Sunny S, Gille, Hans J J P, Hes, Frederik J, Langers, Alexandra M J, Morreau, Hans, Vasen, Hans F A, Vos, Yvonne J, van Wezel, Tom, Tops, Carli M, Ten Broeke, Sanne W, Nielsen, Maartje

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The coding microsatellite mutation profile of PMS2-deficient colorectal cancer by Bajwa - ten Broeke, Sanne W., Ballhausen, Alexej, Ahadova, Aysel, Suerink, Manon, Bohaumilitzky, Lena, Seidler, Florian, Morreau, Hans, van Wezel, Tom, Krzykalla, Julia, Benner, Axel, de Miranda, Noel F., von Knebel Doeberitz, Magnus, Nielsen, Maartje, Kloor, Matthias

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PMS2-associated Lynch syndrome: Past, present and future by Andini, Katarina D, Nielsen, Maartje, Suerink, Manon, Helderman, Noah C, Koornstra, Jan Jacob, Ahadova, Aysel, Kloor, Matthias, Mourits, Marian J E, Kok, Klaas, Sijmons, Rolf H, Bajwa-Ten Broeke, Sanne W

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Repertoire Sequencing of B Cells Elucidates the Role of UNG and Mismatch Repair Proteins in Somatic Hypermutation in Humans by IJspeert, Hanna, van Schouwenburg, Pauline A, Pico-Knijnenburg, Ingrid, Loeffen, Jan, Brugieres, Laurence, Driessen, Gertjan J, Blattmann, Claudia, Suerink, Manon, Januszkiewicz-Lewandowska, Danuta, Azizi, Amedeo A, Seidel, Marcus G, Jacobs, Heinz, van der Burg, Mirjam

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The Apparent Genetic Anticipation in PMS2-Associated Lynch Syndrome Families Is Explained by Birth-cohort Effect by Ten Broeke, Sanne W, Rodríguez-Girondo, Mar, Suerink, Manon, Aretz, Stefan, Bernstein, Inge, Capellá, Gabriel, Engel, Christoph, Gomez-Garcia, Encarna B, van Hest, Liselot P, von Knebel Doeberitz, Magnus, Lagerstedt-Robinson, Kristina, Letteboer, Tom G W, Moller, Pal, van Os, Theo A, Pineda, Marta, Rahner, Nils, Olderode-Berends, Maran J W, von Salomé, Jenny, Schackert, Hans K, Spruijt, Liesbeth, Steinke-Lange, Verena, Wagner, Anja, Tops, Carli M J, Nielsen, Maartje

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No Overt Clinical Immunodeficiency Despite Immune Biological Abnormalities in Patients With Constitutional Mismatch Repair Deficiency by Tesch, Victoria K, IJspeert, Hanna, Raicht, Andrea, Rueda, Daniel, Dominguez-Pinilla, Nerea, Allende, Luis M, Colas, Chrystelle, Rosenbaum, Thorsten, Ilencikova, Denisa, Baris, Hagit N, Nathrath, Michaela H M, Suerink, Manon, Januszkiewicz-Lewandowska, Danuta, Ragab, Iman, Azizi, Amedeo A, Wenzel, Soeren S, Zschocke, Johannes, Schwinger, Wolfgang, Kloor, Matthias, Blattmann, Claudia, Brugieres, Laurence, van der Burg, Mirjam, Wimmer, Katharina, Seidel, Markus G

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Prenatal Ultrasonographic Features Associated With ARSL and X‐Linked Chondrodysplasia Punctata 1 (CDPX1): Literature Review and Case Series by Broeren, Eleanor, Stover, Samantha, Bennett, Katya, Giordano, Jessica, Galloway, Stephanie, Lauzon, Julie, Rust, Laura, Suerink, Manon, Haeringen, Arie, Reimers, Rebecca

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ERN GENTURIS guidelines on constitutional mismatch repair deficiency diagnosis, genetic counselling, surveillance, quality of life, and clinical management by Colas, Chrystelle, Guerrini-Rousseau, Léa, Suerink, Manon, Gallon, Richard, Kratz, Christian P., Ayuso, Éloïse, Brugières, Laurence, Wimmer, Katharina

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Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study by Paulet, Alix, Bennett-Ness, Cavan, Ageorges, Faustine, Trost, Detlef, Green, Andrew, Goudie, David, Jewell, Rosalyn, Kraatari-Tiri, Minna, Piard, Juliette, Coubes, Christine, Lam, Wayne, Lynch, Sally Ann, Groeschel, Samuel, Ramond, Francis, Fluss, Joël, Fagerberg, Christina, Brasch Andersen, Charlotte, Varvagiannis, Konstantinos, Kleefstra, Tjitske, Gérard, Bénédicte, Fradin, Mélanie, Vitobello, Antonio, Tenconi, Romano, Denommé-Pichon, Anne-Sophie, Vincent-Devulder, Aline, Haack, Tobias, Marsh, Joseph A, Laulund, Lone Walentin, Grimmel, Mona, Riess, Angelika, de Boer, Elke, Padilla-Lopez, Sergio, Bakhtiari, Somayeh, Ostendorf, Adam, Zweier, Christiane, Smol, Thomas, Willems, Marjolaine, Faivre, Laurence, Scala, Marcello, Striano, Pasquale, Bagnasco, Irene, Koboldt, Daniel, Iascone, Maria, Suerink, Manon, Kruer, Michael C, Levy, Jonathan, Verloes, Alain, Abbott, Catherine M, Ruaud, Lyse

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The diverse molecular profiles of lynch syndrome-associated colorectal cancers are (highly) dependent on underlying germline mismatch repair mutations by Helderman, Noah C., Bajwa - ten Broeke, Sanne W., Morreau, Hans, Suerink, Manon, Terlouw, Diantha, van der Werf-’ t Lam, Anne-Sophie, van Wezel, Tom, Nielsen, Maartje

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Mismatch repair deficiency and MUTYH variants in small intestine-neuroendocrine tumors by Helderman, Noah C., Elsayed, Fadwa A., van Wezel, Tom, Terlouw, Diantha, Langers, Alexandra M.J., van Egmond, Demi, Kilinç, Gül, Hristova, Hristina, Farina Sarasqueta, Arantza, Morreau, Hans, Nielsen, Maartje, Suerink, Manon

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Reanalysis of whole-exome sequencing (WES) data of children with neurodevelopmental disorders in a standard patient care context by van Slobbe, Michelle, van Haeringen, Arie, Vissers, Lisenka E. L. M., Bijlsma, Emilia K., Rutten, Julie W., Suerink, Manon, Nibbeling, Esther A. R., Ruivenkamp, Claudia A. L., Koene, Saskia

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Correction: Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study by Paulet, Alix, Bennett-Ness, Cavan, Ageorges, Faustine, Trost, Detlef, Green, Andrew, Goudie, David, Jewell, Rosalyn, Kraatari-Tiri, Minna, Piard, Juliette, Coubes, Christine, Lam, Wayne, Lynch, Sally Ann, Groeschel, Samuel, Ramond, Francis, Fluss, Joël, Fagerberg, Christina, Brasch Andersen, Charlotte, Varvagiannis, Konstantinos, Kleefstra, Tjitske, Gérard, Bénédicte, Fradin, Mélanie, Vitobello, Antonio, Tenconi, Romano, Denommé-Pichon, Anne-Sophie, Vincent-Devulder, Aline, Haack, Tobias, Marsh, Joseph A, Laulund, Lone Walentin, Grimmel, Mona, Riess, Angelika, de Boer, Elke, Padilla-Lopez, Sergio, Bakhtiari, Somayeh, Ostendorf, Adam, Zweier, Christiane, Smol, Thomas, Willems, Marjolaine, Faivre, Laurence, Scala, Marcello, Striano, Pasquale, Bagnasco, Irene, Koboldt, Daniel, Iascone, Maria, Suerink, Manon, Kruer, Michael C, Levy, Jonathan, Verloes, Alain, Abbott, Catherine M, Ruaud, Lyse

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Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals by Layo-Carris, Dana E, Lubin, Emily E, Sangree, Annabel K, Clark, Kelly J, Durham, Emily L, Gonzalez, Elizabeth M, Smith, Sarina, Angireddy, Rajesh, Wang, Xiao Min, Weiss, Erin, Toutain, Annick, Mendoza-Londono, Roberto, Dupuis, Lucie, Damseh, Nadirah, Velasco, Danita, Valenzuela, Irene, Codina-Solà, Marta, Ziats, Catherine, Have, Jaclyn, Clarkson, Katie, Steel, Dora, Kurian, Manju, Barwick, Katy, Carrasco, Diana, Dagli, Aditi I, Nowaczyk, M J M, Hančárová, Miroslava, Bendová, Šárka, Prchalova, Darina, Sedláček, Zdeněk, Baxová, Alica, Nowak, Catherine Bearce, Douglas, Jessica, Chung, Wendy K, Longo, Nicola, Platzer, Konrad, Klöckner, Chiara, Averdunk, Luisa, Wieczorek, Dagmar, Krey, Ilona, Zweier, Christiane, Reis, Andre, Balci, Tugce, Simon, Marleen, Kroes, Hester Y, Wiesener, Antje, Vasileiou, Georgia, Marinakis, Nikolaos M, Veltra, Danai, Sofocleous, Christalena, Kosma, Konstantina, Traeger Synodinos, Joanne, Voudris, Konstantinos A, Vuillaume, Marie-Laure, Gueguen, Paul, Derive, Nicolas, Colin, Estelle, Battault, Clarisse, Au, Billie, Delatycki, Martin, Wallis, Mathew, Gallacher, Lyndon, Majdoub, Fatma, Smal, Noor, Weckhuysen, Sarah, Schoonjans, An-Sofie, Kooy, R Frank, Meuwissen, Marije, Cocanougher, Benjamin T, Taylor, Kathryn, Pizoli, Carolyn E, McDonald, Marie T, James, Philip, Roeder, Elizabeth R, Littlejohn, Rebecca, Borja, Nicholas A, Thorson, Willa, King, Kristine, Stoeva, Radka, Suerink, Manon, Nibbeling, Esther, Baskin, Stephanie, L E Guyader, Gwenaël, Kaplan, Julie, Muss, Candace, Carere, Deanna Alexis, Bhoj, Elizabeth J K, Bryant, Laura M

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Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals by Layo-Carris, Dana E, Lubin, Emily E, Sangree, Annabel K, Clark, Kelly J, Durham, Emily L, Gonzalez, Elizabeth M, Smith, Sarina, Angireddy, Rajesh, Wang, Xiao Min, Weiss, Erin, Toutain, Annick, Mendoza-Londono, Roberto, Dupuis, Lucie, Damseh, Nadirah, Velasco, Danita, Valenzuela, Irene, Codina-Solà, Marta, Ziats, Catherine, Have, Jaclyn, Clarkson, Katie, Steel, Dora, Kurian, Manju, Barwick, Katy, Carrasco, Diana, Dagli, Aditi I, Nowaczyk, M J M, Hančárová, Miroslava, Bendová, Šárka, Prchalova, Darina, Sedláček, Zdeněk, Baxová, Alica, Nowak, Catherine Bearce, Douglas, Jessica, Chung, Wendy K, Longo, Nicola, Platzer, Konrad, Klöckner, Chiara, Averdunk, Luisa, Wieczorek, Dagmar, Krey, Ilona, Zweier, Christiane, Reis, Andre, Balci, Tugce, Simon, Marleen, Kroes, Hester Y, Wiesener, Antje, Vasileiou, Georgia, Marinakis, Nikolaos M, Veltra, Danai, Sofocleous, Christalena, Kosma, Konstantina, Synodinos, Joanne Traeger, Voudris, Konstantinos A, Vuillaume, Marie-Laure, Gueguen, Paul, Derive, Nicolas, Colin, Estelle, Battault, Clarisse, Au, Billie, Delatycki, Martin, Wallis, Mathew, Gallacher, Lyndon, Majdoub, Fatma, Smal, Noor, Weckhuysen, Sarah, Schoonjans, An-Sofie, Kooy, R Frank, Meuwissen, Marije, Cocanougher, Benjamin T, Taylor, Kathryn, Pizoli, Carolyn E, McDonald, Marie T, James, Philip, Roeder, Elizabeth R, Littlejohn, Rebecca, Borja, Nicholas A, Thorson, Willa, King, Kristine, Stoeva, Radka, Suerink, Manon, Nibbeling, Esther, Baskin, Stephanie, Guyader, Gwenaël L E, Kaplan, Julie, Muss, Candace, Carere, Deanna Alexis, Bhoj, Elizabeth J K, Bryant, Laura M

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Delineating genotype and parent‐of‐origin effect on the phenotype in MSH6‐associated Lynch syndrome by Werf‐'t Lam, Anne‐Sophie, Rodriguez‐Girondo, Mar, Villasmil, Mandy, Tops, Carli M., Hest, Liselotte, Gille, Hans J. P., Duijkers, Floor A. M., Wagner, Anja, Eikenboom, Ellis, Letteboer, Tom G. W., Jong, Mirjam M., Bajwa‐ten Broeke, Sanne W., Bleeker, Fonnet, Gomez Garcia, Encarna B., Dominguez‐Valentin, Mev, Møller, Pal, Suerink, Manon, Nielsen, Maartje

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Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraple... by Calame, Daniel G., Herman, Isabella, Maroofian, Reza, Marshall, Aren E., Donis, Karina Carvalho, Fatih, Jawid M., Mitani, Tadahiro, Du, Haowei, Grochowski, Christopher M., Sousa, Sergio B., Gijavanekar, Charul, Bakhtiari, Somayeh, Ito, Yoko A., Rocca, Clarissa, Hunter, Jill V., Sutton, V. Reid, Emrick, Lisa T., Boycott, Kym M., Lossos, Alexander, Fellig, Yakov, Prus, Eugenia, Kalish, Yosef, Meiner, Vardiella, Suerink, Manon, Ruivenkamp, Claudia, Muirhead, Kayla, Saadi, Nebal W., Zaki, Maha S., Bouman, Arjan, Barakat, Tahsin Stefan, Skidmore, David L., Osmond, Matthew, Silva, Thiago Oliveira, Murphy, David, Karimiani, Ehsan Ghayoor, Jamshidi, Yalda, Jaddoa, Asaad Ghanim, Tajsharghi, Homa, Jin, Sheng Chih, Abbaszadegan, Mohammad Reza, Ebrahimzadeh‐Vesal, Reza, Hosseini, Susan, Alavi, Shahryar, Bahreini, Amir, Zarean, Elahe, Salehi, Mohammad Mehdi, Al‐Sannaa, Nouriya Abbas, Zifarelli, Giovanni, Bauer, Peter, Robson, Simon C., Coban‐Akdemir, Zeynep, Travaglini, Lorena, Nicita, Francesco, Jhangiani, Shalini N., Gibbs, Richard A., Posey, Jennifer E., Kruer, Michael C., Kernohan, Kristin D., Morales Saute, Jonas A., Houlden, Henry, Vanderver, Adeline, Elsea, Sarah H., Pehlivan, Davut, Marafi, Dana, Lupski, James R.

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Biallelic variants in the ectonucleotidase ENTPD1 cause a complex neurodevelopmental disorder with intellectual disability, hypomyelination, and spastic paraplegia by Calame, Daniel G., Herman, Isabella, Marshall, Aren E., Maroofian, Reza, Donis, Karina Carvalho, Fatih, Jawid M., Mitani, Tadahiro, Du, Haowei, Grochowski, Christopher M., Sousa, Sergio, Bakhtiari, Somayeh, Ito, Yoko A., Rocca, Clarissa, Hunter, Jill V., Sutton, V. Reid, Emrick, Lisa T., Boycott, Kym M., Lossos, Alexander, Fellig, Yakov, Prus, Eugenia, Kalish, Yosef, Meiner, Vardiella, Suerink, Manon, Ruivenkamp, Claudia, Muirhead, Kayla, Saadi, Nebal W., Zaki, Maha S., Skidmore, David L., Osmond, Matthew, Silva, Thiago Oliveira, Houlden, Henry, Murphy, David, Ghayoorarimiani, Ehsan, Jamshidi, Yalda, Jaddoa, Asaad Ghanim, Tajsharghi, Homa, Jin, Sheng Chih, Coban-Akdemir, Zeynep, Travaglini, Lorena, Nicita, Francesco, Jhangiani, Shalini N., Gibbs, Richard A., Posey, Jennifer E., Kruer, Michael C., Kernohan, Kristin D., Morales Saute, Jonas A., Vanderver, Adeline, Pehlivan, Davut, Marafi, Dana, Lupski, James R.

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SNP association study in PMS2-associated Lynch syndrome by ten Broeke, Sanne W., Elsayed, Fadwa A., Pagan, Lisa, Olderode-Berends, Maran J. W., Garcia, Encarna Gomez, Gille, Hans J. P., van Hest, Liselot P., Letteboer, Tom G. W., van der Kolk, Lizet E., Mensenkamp, Arjen R., van Os, Theo A., Spruijt, Liesbeth, Redeker, Bert J. W., Suerink, Manon, Vos, Yvonne J., Wagner, Anja, Wijnen, Juul T., Steyerberg, E. W., Tops, Carli M. J., van Wezel, Tom, Nielsen, Maartje

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