Clinical, in vitro, and in vivo evidence of WAPL as a cohesinopathy-associated gene and phenotypic driver of 10q22.3q23.2 genomic disorder

Philip M. Boone, Serkan Erdin, Abucar Mohamed, Sadegheh Haghshenas, Kamli N.W. Faour, Emeline Kao, Jack Fu, Chiara Auwerx, Ricardo Harripaul, Bimal Jana, Danielle Springer, Grey Hallstrom, Celine E.F. de Esch, Erica Denhoff, Lauren Holmes, Kiana Mohajeri, John Lemanski, Jennifer Kerkhof, Haley McConkey, Jessica Rzasa, Madison J. McCune, Michael A. Levy, Julia Grafstein, Matthew Larson, Zsabre Wright, Roberta L. Beauchamp, Diane Lucente, Rami Abou Jamra, Neena Agrawal, Pankaj B. Agrawal, Erica F. Andersen, Emanuela Argilli, Renee Araiza, Sonia Ballal, Megan F. Baxter, Gaber Bergant, Astrid Bertsche, Riya Bhavsar, Debora R. Bortola, Viktoria Bothe, Charlotte Brasch-Andersen, Dominique Braun, Ange-Line Bruel, Catherine Buchanan, Nicholas D. Burt, Laura M.L. Carvalho, Luigi Chiriatti, Benjamin Cogne, Ryan Collins, Amy Crunk, Benjamin Currall, Andree Delahaye-Duriez, Julian Delanne, Anne-Sophie Denommé-Pichon, Koenraad Devriendt, Aloysius Domingo, Laura Duncan, Laurence Faivre, Laura Famularo, Anne Fulton, Casie A. Genetti, Tamar Harel, Marketa Havlovicova, Jenny Higgs, Marine Houlier, Maria Iascone, LaDonna Immken, Bertrand Isidor, Frank J. Kaiser, Kaycee Karbone, Margaret Kenna, Amjad Khan, Lara Kristina Kimmig, Tjitske Kleefstra, Eva-Maria Kraus, Ana C.V. Krepischi, Ilona Krey, Roger L. Ladda, Louise Lanoue, Cedric Le Caignec, Zoe K. Lewis, Gloria Lima, Sally Ann Lynch, Milan Macek, Olivier Maier, Silvia Maitz, Alison Male, Marcela Malikova, Victoria McKay, Oana Moldovan, Danielle Monteil, Mariana Moysés Oliveira, Jeeva Munasinghe, Sachiko Nakamori, Sonja Neuser, Mathilde Nizon, Xander Nuttle, Kathryn O’Keefe, Laura Orec, Ilaria Parenti, Borut Peterlin, Rolph Pfundt, Jill Pouncey, Francesca Clementina Radio, Leema Robert, Lance Rodan, Hallel Rosenberg-Fogler, Jill A. Rosenfeld, Hana Safraou, Monica Salani, Sophia Schliesske, Eleanor G. Seaby, Susan L. Sell, A. Eliot Shearer, Elliott Sherr, Amelle Shillington, Dorothea Siebold, Margje Sinnema, Laura Smith, Alexander P.A. Stegmann, Cathy A. Stevens, Servi J.C. Stevens, Eric Surette, Marco Tartaglia, Jenny C. Taylor, Michelle L. Thompson, Pernille M. Tørring, Frederic Tran Mau Them, Olga Tsoulaki, Muhammad Umair, Els Vanhoutte, Marie Vincent, Antonio Vitobello, Lydia von Wintzingerode, Amy Watt, Marketa Wayhelova, Ingrid M. Wentzensen, William Wilson, Monica H. Wojcik, Bo Yuan, Giuseppe Zampino, Siddharth Srivastava, Dominik S. Westphal, Korbinian M. Riedhammer, Eric Joyce, Rachita Yadav, James F. Gusella, Derek J.C. Tai, Bekim Sadikovic, Karl E. Pfeifer, Michael E. Talkowski

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DOI: 10.1016/j.ajhg.2026.06.012
Published: 2026-08
Container: The American Journal of Human Genetics
Publisher: Elsevier BV
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BibTeX

@article{allodium:10.1016/j.ajhg.2026.06.012,
title = {Clinical, in vitro, and in vivo evidence of WAPL as a cohesinopathy-associated gene and phenotypic driver of 10q22.3q23.2 genomic disorder},
author = {Philip M. Boone and Serkan Erdin and Abucar Mohamed and Sadegheh Haghshenas and Kamli N.W. Faour and Emeline Kao and Jack Fu and Chiara Auwerx and Ricardo Harripaul and Bimal Jana and Danielle Springer and Grey Hallstrom and Celine E.F. de Esch and Erica Denhoff and Lauren Holmes and Kiana Mohajeri and John Lemanski and Jennifer Kerkhof and Haley McConkey and Jessica Rzasa and Madison J. McCune and Michael A. Levy and Julia Grafstein and Matthew Larson and Zsabre Wright and Roberta L. Beauchamp and Diane Lucente and Rami Abou Jamra and Neena Agrawal and Pankaj B. Agrawal and Erica F. Andersen and Emanuela Argilli and Renee Araiza and Sonia Ballal and Megan F. Baxter and Gaber Bergant and Astrid Bertsche and Riya Bhavsar and Debora R. Bortola and Viktoria Bothe and Charlotte Brasch-Andersen and Dominique Braun and Ange-Line Bruel and Catherine Buchanan and Nicholas D. Burt and Laura M.L. Carvalho and Luigi Chiriatti and Benjamin Cogne and Ryan Collins and Amy Crunk and Benjamin Currall and Andree Delahaye-Duriez and Julian Delanne and Anne-Sophie Denommé-Pichon and Koenraad Devriendt and Aloysius Domingo and Laura Duncan and Laurence Faivre and Laura Famularo and Anne Fulton and Casie A. Genetti and Tamar Harel and Marketa Havlovicova and Jenny Higgs and Marine Houlier and Maria Iascone and LaDonna Immken and Bertrand Isidor and Frank J. Kaiser and Kaycee Karbone and Margaret Kenna and Amjad Khan and Lara Kristina Kimmig and Tjitske Kleefstra and Eva-Maria Kraus and Ana C.V. Krepischi and Ilona Krey and Roger L. Ladda and Louise Lanoue and Cedric Le Caignec and Zoe K. Lewis and Gloria Lima and Sally Ann Lynch and Milan Macek and Olivier Maier and Silvia Maitz and Alison Male and Marcela Malikova and Victoria McKay and Oana Moldovan and Danielle Monteil and Mariana Moysés Oliveira and Jeeva Munasinghe and Sachiko Nakamori and Sonja Neuser and Mathilde Nizon and Xander Nuttle and Kathryn O’Keefe and Laura Orec and Ilaria Parenti and Borut Peterlin and Rolph Pfundt and Jill Pouncey and Francesca Clementina Radio and Leema Robert and Lance Rodan and Hallel Rosenberg-Fogler and Jill A. Rosenfeld and Hana Safraou and Monica Salani and Sophia Schliesske and Eleanor G. Seaby and Susan L. Sell and A. Eliot Shearer and Elliott Sherr and Amelle Shillington and Dorothea Siebold and Margje Sinnema and Laura Smith and Alexander P.A. Stegmann and Cathy A. Stevens and Servi J.C. Stevens and Eric Surette and Marco Tartaglia and Jenny C. Taylor and Michelle L. Thompson and Pernille M. Tørring and Frederic Tran Mau Them and Olga Tsoulaki and Muhammad Umair and Els Vanhoutte and Marie Vincent and Antonio Vitobello and Lydia von Wintzingerode and Amy Watt and Marketa Wayhelova and Ingrid M. Wentzensen and William Wilson and Monica H. Wojcik and Bo Yuan and Giuseppe Zampino and Siddharth Srivastava and Dominik S. Westphal and Korbinian M. Riedhammer and Eric Joyce and Rachita Yadav and James F. Gusella and Derek J.C. Tai and Bekim Sadikovic and Karl E. Pfeifer and Michael E. Talkowski},
year = {2026},
journal = {The American Journal of Human Genetics},
doi = {10.1016/j.ajhg.2026.06.012},
url = {https://doi.org/10.1016/j.ajhg.2026.06.012}
}

RIS

TY  - JOUR
TI  - Clinical, in vitro, and in vivo evidence of WAPL as a cohesinopathy-associated gene and phenotypic driver of 10q22.3q23.2 genomic disorder
AU  - Philip M. Boone
AU  - Serkan Erdin
AU  - Abucar Mohamed
AU  - Sadegheh Haghshenas
AU  - Kamli N.W. Faour
AU  - Emeline Kao
AU  - Jack Fu
AU  - Chiara Auwerx
AU  - Ricardo Harripaul
AU  - Bimal Jana
AU  - Danielle Springer
AU  - Grey Hallstrom
AU  - Celine E.F. de Esch
AU  - Erica Denhoff
AU  - Lauren Holmes
AU  - Kiana Mohajeri
AU  - John Lemanski
AU  - Jennifer Kerkhof
AU  - Haley McConkey
AU  - Jessica Rzasa
AU  - Madison J. McCune
AU  - Michael A. Levy
AU  - Julia Grafstein
AU  - Matthew Larson
AU  - Zsabre Wright
AU  - Roberta L. Beauchamp
AU  - Diane Lucente
AU  - Rami Abou Jamra
AU  - Neena Agrawal
AU  - Pankaj B. Agrawal
AU  - Erica F. Andersen
AU  - Emanuela Argilli
AU  - Renee Araiza
AU  - Sonia Ballal
AU  - Megan F. Baxter
AU  - Gaber Bergant
AU  - Astrid Bertsche
AU  - Riya Bhavsar
AU  - Debora R. Bortola
AU  - Viktoria Bothe
AU  - Charlotte Brasch-Andersen
AU  - Dominique Braun
AU  - Ange-Line Bruel
AU  - Catherine Buchanan
AU  - Nicholas D. Burt
AU  - Laura M.L. Carvalho
AU  - Luigi Chiriatti
AU  - Benjamin Cogne
AU  - Ryan Collins
AU  - Amy Crunk
AU  - Benjamin Currall
AU  - Andree Delahaye-Duriez
AU  - Julian Delanne
AU  - Anne-Sophie Denommé-Pichon
AU  - Koenraad Devriendt
AU  - Aloysius Domingo
AU  - Laura Duncan
AU  - Laurence Faivre
AU  - Laura Famularo
AU  - Anne Fulton
AU  - Casie A. Genetti
AU  - Tamar Harel
AU  - Marketa Havlovicova
AU  - Jenny Higgs
AU  - Marine Houlier
AU  - Maria Iascone
AU  - LaDonna Immken
AU  - Bertrand Isidor
AU  - Frank J. Kaiser
AU  - Kaycee Karbone
AU  - Margaret Kenna
AU  - Amjad Khan
AU  - Lara Kristina Kimmig
AU  - Tjitske Kleefstra
AU  - Eva-Maria Kraus
AU  - Ana C.V. Krepischi
AU  - Ilona Krey
AU  - Roger L. Ladda
AU  - Louise Lanoue
AU  - Cedric Le Caignec
AU  - Zoe K. Lewis
AU  - Gloria Lima
AU  - Sally Ann Lynch
AU  - Milan Macek
AU  - Olivier Maier
AU  - Silvia Maitz
AU  - Alison Male
AU  - Marcela Malikova
AU  - Victoria McKay
AU  - Oana Moldovan
AU  - Danielle Monteil
AU  - Mariana Moysés Oliveira
AU  - Jeeva Munasinghe
AU  - Sachiko Nakamori
AU  - Sonja Neuser
AU  - Mathilde Nizon
AU  - Xander Nuttle
AU  - Kathryn O’Keefe
AU  - Laura Orec
AU  - Ilaria Parenti
AU  - Borut Peterlin
AU  - Rolph Pfundt
AU  - Jill Pouncey
AU  - Francesca Clementina Radio
AU  - Leema Robert
AU  - Lance Rodan
AU  - Hallel Rosenberg-Fogler
AU  - Jill A. Rosenfeld
AU  - Hana Safraou
AU  - Monica Salani
AU  - Sophia Schliesske
AU  - Eleanor G. Seaby
AU  - Susan L. Sell
AU  - A. Eliot Shearer
AU  - Elliott Sherr
AU  - Amelle Shillington
AU  - Dorothea Siebold
AU  - Margje Sinnema
AU  - Laura Smith
AU  - Alexander P.A. Stegmann
AU  - Cathy A. Stevens
AU  - Servi J.C. Stevens
AU  - Eric Surette
AU  - Marco Tartaglia
AU  - Jenny C. Taylor
AU  - Michelle L. Thompson
AU  - Pernille M. Tørring
AU  - Frederic Tran Mau Them
AU  - Olga Tsoulaki
AU  - Muhammad Umair
AU  - Els Vanhoutte
AU  - Marie Vincent
AU  - Antonio Vitobello
AU  - Lydia von Wintzingerode
AU  - Amy Watt
AU  - Marketa Wayhelova
AU  - Ingrid M. Wentzensen
AU  - William Wilson
AU  - Monica H. Wojcik
AU  - Bo Yuan
AU  - Giuseppe Zampino
AU  - Siddharth Srivastava
AU  - Dominik S. Westphal
AU  - Korbinian M. Riedhammer
AU  - Eric Joyce
AU  - Rachita Yadav
AU  - James F. Gusella
AU  - Derek J.C. Tai
AU  - Bekim Sadikovic
AU  - Karl E. Pfeifer
AU  - Michael E. Talkowski
PY  - 2026
JO  - The American Journal of Human Genetics
DO  - 10.1016/j.ajhg.2026.06.012
UR  - https://doi.org/10.1016/j.ajhg.2026.06.012
ER  -

APA

Boone, P. M., Erdin, S., Mohamed, A., Haghshenas, S., Faour, K. N., Kao, E., Fu, J., Auwerx, C., Harripaul, R., Jana, B., Springer, D., Hallstrom, G., Esch, C. E. D., Denhoff, E., Holmes, L., Mohajeri, K., Lemanski, J., Kerkhof, J., McConkey, H., Rzasa, J., McCune, M. J., Levy, M. A., Grafstein, J., Larson, M., Wright, Z., Beauchamp, R. L., Lucente, D., Jamra, R. A., Agrawal, N., Agrawal, P. B., Andersen, E. F., Argilli, E., Araiza, R., Ballal, S., Baxter, M. F., Bergant, G., Bertsche, A., Bhavsar, R., Bortola, D. R., Bothe, V., Brasch-Andersen, C., Braun, D., Bruel, A., Buchanan, C., Burt, N. D., Carvalho, L. M., Chiriatti, L., Cogne, B., Collins, R., Crunk, A., Currall, B., Delahaye-Duriez, A., Delanne, J., Denommé-Pichon, A., Devriendt, K., Domingo, A., Duncan, L., Faivre, L., Famularo, L., Fulton, A., Genetti, C. A., Harel, T., Havlovicova, M., Higgs, J., Houlier, M., Iascone, M., Immken, L., Isidor, B., Kaiser, F. J., Karbone, K., Kenna, M., Khan, A., Kimmig, L. K., Kleefstra, T., Kraus, E., Krepischi, A. C., Krey, I., Ladda, R. L., Lanoue, L., Caignec, C. L., Lewis, Z. K., Lima, G., Lynch, S. A., Macek, M., Maier, O., Maitz, S., Male, A., Malikova, M., McKay, V., Moldovan, O., Monteil, D., Oliveira, M. M., Munasinghe, J., Nakamori, S., Neuser, S., Nizon, M., Nuttle, X., O’Keefe, K., Orec, L., Parenti, I., Peterlin, B., Pfundt, R., Pouncey, J., Radio, F. C., Robert, L., Rodan, L., Rosenberg-Fogler, H., Rosenfeld, J. A., Safraou, H., Salani, M., Schliesske, S., Seaby, E. G., Sell, S. L., Shearer, A. E., Sherr, E., Shillington, A., Siebold, D., Sinnema, M., Smith, L., Stegmann, A. P., Stevens, C. A., Stevens, S. J., Surette, E., Tartaglia, M., Taylor, J. C., Thompson, M. L., Tørring, P. M., Them, F. T. M., Tsoulaki, O., Umair, M., Vanhoutte, E., Vincent, M., Vitobello, A., Wintzingerode, L. V., Watt, A., Wayhelova, M., Wentzensen, I. M., Wilson, W., Wojcik, M. H., Yuan, B., Zampino, G., Srivastava, S., Westphal, D. S., Riedhammer, K. M., Joyce, E., Yadav, R., Gusella, J. F., Tai, D. J., Sadikovic, B., Pfeifer, K. E., & Talkowski, M. E. (2026). Clinical, in vitro, and in vivo evidence of WAPL as a cohesinopathy-associated gene and phenotypic driver of 10q22.3q23.2 genomic disorder. The American Journal of Human Genetics. https://doi.org/10.1016/j.ajhg.2026.06.012

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crossref · retrieved 2026-09-26T01:43:49.109Z