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

Boone PM, Erdin S, Mohamed A, Haghshenas S, Faour KNW, Kao E, Fu J, Auwerx C, Harripaul R, Jana B, Springer D, Hallstrom G, de Esch CEF, Denhoff E, Holmes L, Mohajeri K, Lemanski J, Kerkhof J, McConkey H, Rzasa J, McCune MJ, Levy MA, Grafstein J, Larson M, Wright Z, Beauchamp RL, Lucente D, Jamra RA, Agrawal N, Agrawal P, Andersen EF, Argilli E, Araiza R, Ballal S, Baxter MF, Bergant G, Bertsche A, Bhavsar R, Bortola DR, Bothe V, Brasch-Andersen C, Braun D, Bruel AL, Buchanan C, Burt ND, Carvalho LML, Chiriatti L, Cogne B, Collins R, Crunk A, Currall B, Delahaye-Duriez A, Delanne J, Denommé-Pichon AS, Devriendt K, Domingo A, Duncan L, Faivre L, Famularo L, Fulton A, Genetti C, Harel T, Havlovicova M, Higgs J, Houlier M, Iascone M, Immken L, Isidor B, Kaiser FJ, Karbone K, Kenna M, Khan A, Kimmig LK, Kleefstra T, Kraus EM, Krepischi ACV, Krey I, Ladda R, Lanoue L, Le Caignec C, Lewis ZK, Lima G, Lynch SA, Macek M Jr, Maier O, Maitz S, Male A, Malikova M, McKay V, Moldovan O, Monteil D, Oliveira MM, Munasinghe J, Nakamori S, Neuser S, Nizon M, Nuttle X, O'Keefe K, Orec L, Parenti I, Peterlin B, Pfundt R, Pouncey J, Radio FC, Robert L, Rodan L, Rosenberg-Fogler H, Rosenfeld JA, Safraou H, Salani M, Schliesske S, Seaby EG, Sell S, Eliot Shearer A, Sherr E, Shillington A, Siebold D, Sinnema M, Smith L, Stegmann APA, Stevens C, Stevens S, Surette E, Tartaglia M, Taylor JC, Thompson ML, Tørring PM, Mau Them FT, Tsoulaki O, Umair M, Vanhoutte E, Vincent M, Vitobello A, von Wintzingerode L, Watt A, Wayhelova M, Wentzensen IM, Wilson W, Wojcik MH, Yuan B, Zampino G, Srivastava S, Westphal DS, Riedhammer KM, Joyce E, Yadav R, Gusella J, Tai DJC, Sadikovic B, Pfeifer KE, Talkowski ME

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DOI: 10.64898/2026.02.23.26346364
Published: 2026 Feb 28
Container: medRxiv : the preprint server for health sciences
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Open access: yes

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BibTeX

@article{allodium:10.64898/2026.02.23.26346364,
  title = {Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.},
  author = {Boone PM and Erdin S and Mohamed A and Haghshenas S and Faour KNW and Kao E and Fu J and Auwerx C and Harripaul R and Jana B and Springer D and Hallstrom G and de Esch CEF and Denhoff E and Holmes L and Mohajeri K and Lemanski J and Kerkhof J and McConkey H and Rzasa J and McCune MJ and Levy MA and Grafstein J and Larson M and Wright Z and Beauchamp RL and Lucente D and Jamra RA and Agrawal N and Agrawal P and Andersen EF and Argilli E and Araiza R and Ballal S and Baxter MF and Bergant G and Bertsche A and Bhavsar R and Bortola DR and Bothe V and Brasch-Andersen C and Braun D and Bruel AL and Buchanan C and Burt ND and Carvalho LML and Chiriatti L and Cogne B and Collins R and Crunk A and Currall B and Delahaye-Duriez A and Delanne J and Denommé-Pichon AS and Devriendt K and Domingo A and Duncan L and Faivre L and Famularo L and Fulton A and Genetti C and Harel T and Havlovicova M and Higgs J and Houlier M and Iascone M and Immken L and Isidor B and Kaiser FJ and Karbone K and Kenna M and Khan A and Kimmig LK and Kleefstra T and Kraus EM and Krepischi ACV and Krey I and Ladda R and Lanoue L and Le Caignec C and Lewis ZK and Lima G and Lynch SA and Macek M Jr and Maier O and Maitz S and Male A and Malikova M and McKay V and Moldovan O and Monteil D and Oliveira MM and Munasinghe J and Nakamori S and Neuser S and Nizon M and Nuttle X and O'Keefe K and Orec L and Parenti I and Peterlin B and Pfundt R and Pouncey J and Radio FC and Robert L and Rodan L and Rosenberg-Fogler H and Rosenfeld JA and Safraou H and Salani M and Schliesske S and Seaby EG and Sell S and Eliot Shearer A and Sherr E and Shillington A and Siebold D and Sinnema M and Smith L and Stegmann APA and Stevens C and Stevens S and Surette E and Tartaglia M and Taylor JC and Thompson ML and Tørring PM and Mau Them FT and Tsoulaki O and Umair M and Vanhoutte E and Vincent M and Vitobello A and von Wintzingerode L and Watt A and Wayhelova M and Wentzensen IM and Wilson W and Wojcik MH and Yuan B and Zampino G and Srivastava S and Westphal DS and Riedhammer KM and Joyce E and Yadav R and Gusella J and Tai DJC and Sadikovic B and Pfeifer KE and Talkowski ME},
  year = {2026},
  journal = {medRxiv : the preprint server for health sciences},
  doi = {10.64898/2026.02.23.26346364},
  url = {https://doi.org/10.64898/2026.02.23.26346364}
}

RIS

TY  - JOUR
TI  - Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.
AU  - Boone PM
AU  - Erdin S
AU  - Mohamed A
AU  - Haghshenas S
AU  - Faour KNW
AU  - Kao E
AU  - Fu J
AU  - Auwerx C
AU  - Harripaul R
AU  - Jana B
AU  - Springer D
AU  - Hallstrom G
AU  - de Esch CEF
AU  - Denhoff E
AU  - Holmes L
AU  - Mohajeri K
AU  - Lemanski J
AU  - Kerkhof J
AU  - McConkey H
AU  - Rzasa J
AU  - McCune MJ
AU  - Levy MA
AU  - Grafstein J
AU  - Larson M
AU  - Wright Z
AU  - Beauchamp RL
AU  - Lucente D
AU  - Jamra RA
AU  - Agrawal N
AU  - Agrawal P
AU  - Andersen EF
AU  - Argilli E
AU  - Araiza R
AU  - Ballal S
AU  - Baxter MF
AU  - Bergant G
AU  - Bertsche A
AU  - Bhavsar R
AU  - Bortola DR
AU  - Bothe V
AU  - Brasch-Andersen C
AU  - Braun D
AU  - Bruel AL
AU  - Buchanan C
AU  - Burt ND
AU  - Carvalho LML
AU  - Chiriatti L
AU  - Cogne B
AU  - Collins R
AU  - Crunk A
AU  - Currall B
AU  - Delahaye-Duriez A
AU  - Delanne J
AU  - Denommé-Pichon AS
AU  - Devriendt K
AU  - Domingo A
AU  - Duncan L
AU  - Faivre L
AU  - Famularo L
AU  - Fulton A
AU  - Genetti C
AU  - Harel T
AU  - Havlovicova M
AU  - Higgs J
AU  - Houlier M
AU  - Iascone M
AU  - Immken L
AU  - Isidor B
AU  - Kaiser FJ
AU  - Karbone K
AU  - Kenna M
AU  - Khan A
AU  - Kimmig LK
AU  - Kleefstra T
AU  - Kraus EM
AU  - Krepischi ACV
AU  - Krey I
AU  - Ladda R
AU  - Lanoue L
AU  - Le Caignec C
AU  - Lewis ZK
AU  - Lima G
AU  - Lynch SA
AU  - Macek M Jr
AU  - Maier O
AU  - Maitz S
AU  - Male A
AU  - Malikova M
AU  - McKay V
AU  - Moldovan O
AU  - Monteil D
AU  - Oliveira MM
AU  - Munasinghe J
AU  - Nakamori S
AU  - Neuser S
AU  - Nizon M
AU  - Nuttle X
AU  - O'Keefe K
AU  - Orec L
AU  - Parenti I
AU  - Peterlin B
AU  - Pfundt R
AU  - Pouncey J
AU  - Radio FC
AU  - Robert L
AU  - Rodan L
AU  - Rosenberg-Fogler H
AU  - Rosenfeld JA
AU  - Safraou H
AU  - Salani M
AU  - Schliesske S
AU  - Seaby EG
AU  - Sell S
AU  - Eliot Shearer A
AU  - Sherr E
AU  - Shillington A
AU  - Siebold D
AU  - Sinnema M
AU  - Smith L
AU  - Stegmann APA
AU  - Stevens C
AU  - Stevens S
AU  - Surette E
AU  - Tartaglia M
AU  - Taylor JC
AU  - Thompson ML
AU  - Tørring PM
AU  - Mau Them FT
AU  - Tsoulaki O
AU  - Umair M
AU  - Vanhoutte E
AU  - Vincent M
AU  - Vitobello A
AU  - von Wintzingerode L
AU  - Watt A
AU  - Wayhelova M
AU  - Wentzensen IM
AU  - Wilson W
AU  - Wojcik MH
AU  - Yuan B
AU  - Zampino G
AU  - Srivastava S
AU  - Westphal DS
AU  - Riedhammer KM
AU  - Joyce E
AU  - Yadav R
AU  - Gusella J
AU  - Tai DJC
AU  - Sadikovic B
AU  - Pfeifer KE
AU  - Talkowski ME
PY  - 2026
JO  - medRxiv : the preprint server for health sciences
DO  - 10.64898/2026.02.23.26346364
UR  - https://doi.org/10.64898/2026.02.23.26346364
ER  -

APA

PM, B., S, E., A, M., S, H., KNW, F., E, K., J, F., C, A., R, H., B, J., D, S., G, H., CEF, D. E., E, D., L, H., K, M., J, L., J, K., H, M., J, R., MJ, M., MA, L., J, G., M, L., Z, W., RL, B., D, L., RA, J., N, A., P, A., EF, A., E, A., R, A., S, B., MF, B., G, B., A, B., R, B., DR, B., V, B., C, B., D, B., AL, B., C, B., ND, B., LML, C., L, C., B, C., R, C., A, C., B, C., A, D., J, D., AS, D., K, D., A, D., L, D., L, F., L, F., A, F., C, G., T, H., M, H., J, H., M, H., M, I., L, I., B, I., FJ, K., K, K., M, K., A, K., LK, K., T, K., EM, K., ACV, K., I, K., R, L., L, L., C, L. C., ZK, L., G, L., SA, L., Jr, M. M., O, M., S, M., A, M., M, M., V, M., O, M., D, M., MM, O., J, M., S, N., S, N., M, N., X, N., K, O., L, O., I, P., B, P., R, P., J, P., FC, R., L, R., L, R., H, R., JA, R., H, S., M, S., S, S., EG, S., S, S., A, E. S., E, S., A, S., D, S., M, S., L, S., APA, S., C, S., S, S., E, S., M, T., JC, T., ML, T., PM, T., FT, M. T., O, T., M, U., E, V., M, V., A, V., L, V. W., A, W., M, W., IM, W., W, W., MH, W., B, Y., G, Z., S, S., DS, W., KM, R., E, J., R, Y., J, G., DJC, T., B, S., KE, P., & ME, T. (2026). Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.. medRxiv : the preprint server for health sciences. https://doi.org/10.64898/2026.02.23.26346364

Source records

pubmed · retrieved 2026-09-25T07:26:09.518Z