Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

Lot Snijders Blok; Erik Madsen; Jane Juusola; Christian Gilissen; Diana Baralle; Margot R. F. Reijnders; Hanka Venselaar; Celine Helsmoorte; Megan T. Cho; Alexander Hoischen; Lisenka E. L. M. Vissers; Tom S. Koemans; Willemijn Wissink-Lindhout; Evan E. Eichler; Corrado Romano; Hilde Van Esch; Connie Stumpel; Maaike Vreeburg; Eric Smeets; Karin Obemdorff; Bregje W. M. van Bon; Marie Shaw; Jozef Gecz; Eric Haan; Melanie Bienek; Corinna Jensen; Bart L. Loeys; Anke Van Diick; A. Micheil Innes; Hilary Racher; Sascha Vermeer; Nataliya Di Donato; Andreas Rump; Katrina Tatton-Brown; Michael J. Parker; Alex Henderson; Sally A. Lynch; Alan Fryer; Alison Ross; Pradeep Vasudevan; Usha Kini; Ruth Newbury-Ecob; Kate Chandler; Alison Male; Sybe Dijkstra; Jolanda Schieving; Jacques Giltay; Koen L. I. Van Gassen; Janneke Schuurs-Hoeijmakers; Perciliz L. Tan; Igor Pediaditakis; Stefan A. Haas; Kyle Retterer; Patrick Reed; Kristin G. Monaghan; Eden Haverfield; Marvin Natowicz; Angela Myers; Michael C. Kruer; Quinn Stein; Kevin A. Strauss; Karlla W. Brigatti; Katherine Keating; Barbara K. Burton; Katherine H. Kim; Joel Charrow; Jennifer Norman; Audrey Foster-Barber; Antonie D. Kline; Amy Kimball; Elaine Zackai; Margaret Harr; Joyce Fox; Julie McLaughlin; Kristin Lindstrom; Katrina M. Haude; Kees van Roozendaal; Han Brunner; Wendy K. Chung; R. Frank Kooy; Rolph Pfundt; Vera Kalscheuer; Sarju G. Mehta; Nicholas Katsanis; Tjitske Kleefstra

doi:10.1016/j.ajhg.2015.07.004

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

Lot Snijders Blok, Erik Madsen, Jane Juusola, Christian Gilissen, Diana Baralle, Margot R. F. Reijnders, Hanka Venselaar, Celine Helsmoorte, Megan T. Cho, Alexander Hoischen, Lisenka E. L. M. Vissers, Tom S. Koemans, Willemijn Wissink-Lindhout, Evan E. Eichler, Corrado Romano, Hilde Van Esch, Connie Stumpel, Maaike Vreeburg, Eric Smeets, Karin ObemdorffBregje W. M. van Bon, Marie Shaw, Jozef Gecz, Eric Haan, Melanie Bienek, Corinna Jensen, Bart L. Loeys, Anke Van Diick, A. Micheil Innes, Hilary Racher, Sascha Vermeer, Nataliya Di Donato, Andreas Rump, Katrina Tatton-Brown, Michael J. Parker, Alex Henderson, Sally A. Lynch, Alan Fryer, Alison Ross, Pradeep Vasudevan, Usha Kini, Ruth Newbury-Ecob, Kate Chandler, Alison Male, Sybe Dijkstra, Jolanda Schieving, Jacques Giltay, Koen L. I. Van Gassen, Janneke Schuurs-Hoeijmakers, Perciliz L. Tan, Igor Pediaditakis, Stefan A. Haas, Kyle Retterer, Patrick Reed, Kristin G. Monaghan, Eden Haverfield, Marvin Natowicz, Angela Myers, Michael C. Kruer, Quinn Stein, Kevin A. Strauss, Karlla W. Brigatti, Katherine Keating, Barbara K. Burton, Katherine H. Kim, Joel Charrow, Jennifer Norman, Audrey Foster-Barber, Antonie D. Kline, Amy Kimball, Elaine Zackai, Margaret Harr, Joyce Fox, Julie McLaughlin, Kristin Lindstrom, Katrina M. Haude, Kees van Roozendaal, Han Brunner, Wendy K. Chung, R. Frank Kooy, Rolph Pfundt, Vera Kalscheuer, Sarju G. Mehta, Nicholas Katsanis^*, Tjitske Kleefstra

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

Original language	English
Pages (from-to)	343-352
Journal	American Journal of Human Genetics
Volume	97
Issue number	2
DOIs	https://doi.org/10.1016/j.ajhg.2015.07.004
Publication status	Published - 6 Aug 2015

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10.1016/j.ajhg.2015.07.004

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Blok, L. S., Madsen, E., Juusola, J., Gilissen, C., Baralle, D., Reijnders, M. R. F., Venselaar, H., Helsmoorte, C., Cho, M. T., Hoischen, A., Vissers, L. E. L. M., Koemans, T. S., Wissink-Lindhout, W., Eichler, E. E., Romano, C., Van Esch, H., Stumpel, C., Vreeburg, M., Smeets, E., ... Kleefstra, T. (2015). Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling. American Journal of Human Genetics, 97(2), 343-352. https://doi.org/10.1016/j.ajhg.2015.07.004

Blok, Lot Snijders ; Madsen, Erik ; Juusola, Jane ; Gilissen, Christian ; Baralle, Diana ; Reijnders, Margot R. F. ; Venselaar, Hanka ; Helsmoorte, Celine ; Cho, Megan T. ; Hoischen, Alexander ; Vissers, Lisenka E. L. M. ; Koemans, Tom S. ; Wissink-Lindhout, Willemijn ; Eichler, Evan E. ; Romano, Corrado ; Van Esch, Hilde ; Stumpel, Connie ; Vreeburg, Maaike ; Smeets, Eric ; Obemdorff, Karin ; van Bon, Bregje W. M. ; Shaw, Marie ; Gecz, Jozef ; Haan, Eric ; Bienek, Melanie ; Jensen, Corinna ; Loeys, Bart L. ; Van Diick, Anke ; Innes, A. Micheil ; Racher, Hilary ; Vermeer, Sascha ; Di Donato, Nataliya ; Rump, Andreas ; Tatton-Brown, Katrina ; Parker, Michael J. ; Henderson, Alex ; Lynch, Sally A. ; Fryer, Alan ; Ross, Alison ; Vasudevan, Pradeep ; Kini, Usha ; Newbury-Ecob, Ruth ; Chandler, Kate ; Male, Alison ; Dijkstra, Sybe ; Schieving, Jolanda ; Giltay, Jacques ; Van Gassen, Koen L. I. ; Schuurs-Hoeijmakers, Janneke ; Tan, Perciliz L. ; Pediaditakis, Igor ; Haas, Stefan A. ; Retterer, Kyle ; Reed, Patrick ; Monaghan, Kristin G. ; Haverfield, Eden ; Natowicz, Marvin ; Myers, Angela ; Kruer, Michael C. ; Stein, Quinn ; Strauss, Kevin A. ; Brigatti, Karlla W. ; Keating, Katherine ; Burton, Barbara K. ; Kim, Katherine H. ; Charrow, Joel ; Norman, Jennifer ; Foster-Barber, Audrey ; Kline, Antonie D. ; Kimball, Amy ; Zackai, Elaine ; Harr, Margaret ; Fox, Joyce ; McLaughlin, Julie ; Lindstrom, Kristin ; Haude, Katrina M. ; van Roozendaal, Kees ; Brunner, Han ; Chung, Wendy K. ; Kooy, R. Frank ; Pfundt, Rolph ; Kalscheuer, Vera ; Mehta, Sarju G. ; Katsanis, Nicholas ; Kleefstra, Tjitske. / Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling. In: American Journal of Human Genetics. 2015 ; Vol. 97, No. 2. pp. 343-352.

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title = "Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling",

author = "Blok, {Lot Snijders} and Erik Madsen and Jane Juusola and Christian Gilissen and Diana Baralle and Reijnders, {Margot R. F.} and Hanka Venselaar and Celine Helsmoorte and Cho, {Megan T.} and Alexander Hoischen and Vissers, {Lisenka E. L. M.} and Koemans, {Tom S.} and Willemijn Wissink-Lindhout and Eichler, {Evan E.} and Corrado Romano and {Van Esch}, Hilde and Connie Stumpel and Maaike Vreeburg and Eric Smeets and Karin Obemdorff and {van Bon}, {Bregje W. M.} and Marie Shaw and Jozef Gecz and Eric Haan and Melanie Bienek and Corinna Jensen and Loeys, {Bart L.} and {Van Diick}, Anke and Innes, {A. Micheil} and Hilary Racher and Sascha Vermeer and {Di Donato}, Nataliya and Andreas Rump and Katrina Tatton-Brown and Parker, {Michael J.} and Alex Henderson and Lynch, {Sally A.} and Alan Fryer and Alison Ross and Pradeep Vasudevan and Usha Kini and Ruth Newbury-Ecob and Kate Chandler and Alison Male and Sybe Dijkstra and Jolanda Schieving and Jacques Giltay and {Van Gassen}, {Koen L. I.} and Janneke Schuurs-Hoeijmakers and Tan, {Perciliz L.} and Igor Pediaditakis and Haas, {Stefan A.} and Kyle Retterer and Patrick Reed and Monaghan, {Kristin G.} and Eden Haverfield and Marvin Natowicz and Angela Myers and Kruer, {Michael C.} and Quinn Stein and Strauss, {Kevin A.} and Brigatti, {Karlla W.} and Katherine Keating and Burton, {Barbara K.} and Kim, {Katherine H.} and Joel Charrow and Jennifer Norman and Audrey Foster-Barber and Kline, {Antonie D.} and Amy Kimball and Elaine Zackai and Margaret Harr and Joyce Fox and Julie McLaughlin and Kristin Lindstrom and Haude, {Katrina M.} and {van Roozendaal}, Kees and Han Brunner and Chung, {Wendy K.} and Kooy, {R. Frank} and Rolph Pfundt and Vera Kalscheuer and Mehta, {Sarju G.} and Nicholas Katsanis and Tjitske Kleefstra",

year = "2015",

month = aug,

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doi = "10.1016/j.ajhg.2015.07.004",

language = "English",

volume = "97",

pages = "343--352",

journal = "American Journal of Human Genetics",

issn = "0002-9297",

publisher = "Cell Press",

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Blok, LS, Madsen, E, Juusola, J, Gilissen, C, Baralle, D, Reijnders, MRF, Venselaar, H, Helsmoorte, C, Cho, MT, Hoischen, A, Vissers, LELM, Koemans, TS, Wissink-Lindhout, W, Eichler, EE, Romano, C, Van Esch, H, Stumpel, C, Vreeburg, M, Smeets, E, Obemdorff, K, van Bon, BWM, Shaw, M, Gecz, J, Haan, E, Bienek, M, Jensen, C, Loeys, BL, Van Diick, A, Innes, AM, Racher, H, Vermeer, S, Di Donato, N, Rump, A, Tatton-Brown, K, Parker, MJ, Henderson, A, Lynch, SA, Fryer, A, Ross, A, Vasudevan, P, Kini, U, Newbury-Ecob, R, Chandler, K, Male, A, Dijkstra, S, Schieving, J, Giltay, J, Van Gassen, KLI, Schuurs-Hoeijmakers, J, Tan, PL, Pediaditakis, I, Haas, SA, Retterer, K, Reed, P, Monaghan, KG, Haverfield, E, Natowicz, M, Myers, A, Kruer, MC, Stein, Q, Strauss, KA, Brigatti, KW, Keating, K, Burton, BK, Kim, KH, Charrow, J, Norman, J, Foster-Barber, A, Kline, AD, Kimball, A, Zackai, E, Harr, M, Fox, J, McLaughlin, J, Lindstrom, K, Haude, KM, van Roozendaal, K , Brunner, H, Chung, WK, Kooy, RF, Pfundt, R, Kalscheuer, V, Mehta, SG, Katsanis, N & Kleefstra, T 2015, 'Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling', American Journal of Human Genetics, vol. 97, no. 2, pp. 343-352. https://doi.org/10.1016/j.ajhg.2015.07.004

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling. / Blok, Lot Snijders; Madsen, Erik; Juusola, Jane; Gilissen, Christian; Baralle, Diana; Reijnders, Margot R. F.; Venselaar, Hanka; Helsmoorte, Celine; Cho, Megan T.; Hoischen, Alexander; Vissers, Lisenka E. L. M.; Koemans, Tom S.; Wissink-Lindhout, Willemijn; Eichler, Evan E.; Romano, Corrado; Van Esch, Hilde; Stumpel, Connie; Vreeburg, Maaike; Smeets, Eric; Obemdorff, Karin; van Bon, Bregje W. M.; Shaw, Marie; Gecz, Jozef; Haan, Eric; Bienek, Melanie; Jensen, Corinna; Loeys, Bart L.; Van Diick, Anke; Innes, A. Micheil; Racher, Hilary; Vermeer, Sascha; Di Donato, Nataliya; Rump, Andreas; Tatton-Brown, Katrina; Parker, Michael J.; Henderson, Alex; Lynch, Sally A.; Fryer, Alan; Ross, Alison; Vasudevan, Pradeep; Kini, Usha; Newbury-Ecob, Ruth; Chandler, Kate; Male, Alison; Dijkstra, Sybe; Schieving, Jolanda; Giltay, Jacques; Van Gassen, Koen L. I.; Schuurs-Hoeijmakers, Janneke; Tan, Perciliz L.; Pediaditakis, Igor; Haas, Stefan A.; Retterer, Kyle; Reed, Patrick; Monaghan, Kristin G.; Haverfield, Eden; Natowicz, Marvin; Myers, Angela; Kruer, Michael C.; Stein, Quinn; Strauss, Kevin A.; Brigatti, Karlla W.; Keating, Katherine; Burton, Barbara K.; Kim, Katherine H.; Charrow, Joel; Norman, Jennifer; Foster-Barber, Audrey; Kline, Antonie D.; Kimball, Amy; Zackai, Elaine; Harr, Margaret; Fox, Joyce; McLaughlin, Julie; Lindstrom, Kristin; Haude, Katrina M.; van Roozendaal, Kees ; Brunner, Han; Chung, Wendy K.; Kooy, R. Frank; Pfundt, Rolph; Kalscheuer, Vera; Mehta, Sarju G.; Katsanis, Nicholas; Kleefstra, Tjitske.

In: American Journal of Human Genetics, Vol. 97, No. 2, 06.08.2015, p. 343-352.

Research output: Contribution to journal › Article › Academic › peer-review

TY - JOUR

T1 - Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

AU - Blok, Lot Snijders

AU - Madsen, Erik

AU - Juusola, Jane

AU - Gilissen, Christian

AU - Baralle, Diana

AU - Reijnders, Margot R. F.

AU - Venselaar, Hanka

AU - Helsmoorte, Celine

AU - Cho, Megan T.

AU - Hoischen, Alexander

AU - Vissers, Lisenka E. L. M.

AU - Koemans, Tom S.

AU - Wissink-Lindhout, Willemijn

AU - Eichler, Evan E.

AU - Romano, Corrado

AU - Van Esch, Hilde

AU - Stumpel, Connie

AU - Vreeburg, Maaike

AU - Smeets, Eric

AU - Obemdorff, Karin

AU - van Bon, Bregje W. M.

AU - Shaw, Marie

AU - Gecz, Jozef

AU - Haan, Eric

AU - Bienek, Melanie

AU - Jensen, Corinna

AU - Loeys, Bart L.

AU - Van Diick, Anke

AU - Innes, A. Micheil

AU - Racher, Hilary

AU - Vermeer, Sascha

AU - Di Donato, Nataliya

AU - Rump, Andreas

AU - Tatton-Brown, Katrina

AU - Parker, Michael J.

AU - Henderson, Alex

AU - Lynch, Sally A.

AU - Fryer, Alan

AU - Ross, Alison

AU - Vasudevan, Pradeep

AU - Kini, Usha

AU - Newbury-Ecob, Ruth

AU - Chandler, Kate

AU - Male, Alison

AU - Dijkstra, Sybe

AU - Schieving, Jolanda

AU - Giltay, Jacques

AU - Van Gassen, Koen L. I.

AU - Schuurs-Hoeijmakers, Janneke

AU - Tan, Perciliz L.

AU - Pediaditakis, Igor

AU - Haas, Stefan A.

AU - Retterer, Kyle

AU - Reed, Patrick

AU - Monaghan, Kristin G.

AU - Haverfield, Eden

AU - Natowicz, Marvin

AU - Myers, Angela

AU - Kruer, Michael C.

AU - Stein, Quinn

AU - Strauss, Kevin A.

AU - Brigatti, Karlla W.

AU - Keating, Katherine

AU - Burton, Barbara K.

AU - Kim, Katherine H.

AU - Charrow, Joel

AU - Norman, Jennifer

AU - Foster-Barber, Audrey

AU - Kline, Antonie D.

AU - Kimball, Amy

AU - Zackai, Elaine

AU - Harr, Margaret

AU - Fox, Joyce

AU - McLaughlin, Julie

AU - Lindstrom, Kristin

AU - Haude, Katrina M.

AU - van Roozendaal, Kees

AU - Brunner, Han

AU - Chung, Wendy K.

AU - Kooy, R. Frank

AU - Pfundt, Rolph

AU - Kalscheuer, Vera

AU - Mehta, Sarju G.

AU - Katsanis, Nicholas

AU - Kleefstra, Tjitske

PY - 2015/8/6

Y1 - 2015/8/6

U2 - 10.1016/j.ajhg.2015.07.004

DO - 10.1016/j.ajhg.2015.07.004

M3 - Article

C2 - 26235985

VL - 97

SP - 343

EP - 352

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

SN - 0002-9297

IS - 2

ER -