Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling. [electronic resource]
By: Contributor(s):- Madsen, Erik
- Juusola, Jane
- Gilissen, Christian
- Baralle, Diana
- Reijnders, Margot R F
- Venselaar, Hanka
- Helsmoortel, Céline
- 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
- Oberndorff, Karin
- van Bon, Bregje W M
- Shaw, Marie
- Gecz, Jozef
- Haan, Eric
- Bienek, Melanie
- Jensen, Corinna
- Loeys, Bart L
- Van Dijck, 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
- 1537-6605
- Amino Acid Substitution -- genetics
- Animals
- Base Sequence
- DEAD-box RNA Helicases -- genetics
- Embryo, Nonmammalian -- metabolism
- Exome -- genetics
- Female
- Gene Dosage -- genetics
- Humans
- Intellectual Disability -- genetics
- Male
- Molecular Sequence Data
- Mutation, Missense -- genetics
- Phenotype
- Sequence Analysis, DNA
- Sex Characteristics
- Wnt Signaling Pathway -- genetics
- Zebrafish
Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
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Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.
APA
Snijders Blok L., Madsen E., Juusola J., Gilissen C., Baralle D., Reijnders M. R. F., Venselaar H., Helsmoortel 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., Oberndorff K., van Bon B. W. M., Shaw M., Gecz J., Haan E., Bienek M., Jensen C., Loeys B. L., Van Dijck A., Innes A. M., Racher H., Vermeer S., Di Donato N., Rump A., Tatton-Brown K., Parker M. J., Henderson A., Lynch S. A., Fryer A., Ross A., Vasudevan P., Kini U., Newbury-Ecob R., Chandler K., Male A., Dijkstra S., Schieving J., Giltay J., van Gassen K. L. I., Schuurs-Hoeijmakers J., Tan P. L., Pediaditakis I., Haas S. A., Retterer K., Reed P., Monaghan K. G., Haverfield E., Natowicz M., Myers A., Kruer M. C., Stein Q., Strauss K. A., Brigatti K. W., Keating K., Burton B. K., Kim K. H., Charrow J., Norman J., Foster-Barber A., Kline A. D., Kimball A., Zackai E., Harr M., Fox J., McLaughlin J., Lindstrom K., Haude K. M., van Roozendaal K., Brunner H., Chung W. K., Kooy R. F., Pfundt R., Kalscheuer V., Mehta S. G., Katsanis N. & Kleefstra T. (20151029). Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling. : American journal of human genetics.
Chicago
Snijders Blok Lot, Madsen Erik, Juusola Jane, Gilissen Christian, Baralle Diana, Reijnders Margot R F, Venselaar Hanka, Helsmoortel Céline, 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, Oberndorff Karin, van Bon Bregje W M, Shaw Marie, Gecz Jozef, Haan Eric, Bienek Melanie, Jensen Corinna, Loeys Bart L, Van Dijck 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 and Kleefstra Tjitske. 20151029. Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling. : American journal of human genetics.
Harvard
Snijders Blok L., Madsen E., Juusola J., Gilissen C., Baralle D., Reijnders M. R. F., Venselaar H., Helsmoortel 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., Oberndorff K., van Bon B. W. M., Shaw M., Gecz J., Haan E., Bienek M., Jensen C., Loeys B. L., Van Dijck A., Innes A. M., Racher H., Vermeer S., Di Donato N., Rump A., Tatton-Brown K., Parker M. J., Henderson A., Lynch S. A., Fryer A., Ross A., Vasudevan P., Kini U., Newbury-Ecob R., Chandler K., Male A., Dijkstra S., Schieving J., Giltay J., van Gassen K. L. I., Schuurs-Hoeijmakers J., Tan P. L., Pediaditakis I., Haas S. A., Retterer K., Reed P., Monaghan K. G., Haverfield E., Natowicz M., Myers A., Kruer M. C., Stein Q., Strauss K. A., Brigatti K. W., Keating K., Burton B. K., Kim K. H., Charrow J., Norman J., Foster-Barber A., Kline A. D., Kimball A., Zackai E., Harr M., Fox J., McLaughlin J., Lindstrom K., Haude K. M., van Roozendaal K., Brunner H., Chung W. K., Kooy R. F., Pfundt R., Kalscheuer V., Mehta S. G., Katsanis N. and Kleefstra T. (20151029). Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling. : American journal of human genetics.
MLA
Snijders Blok Lot, Madsen Erik, Juusola Jane, Gilissen Christian, Baralle Diana, Reijnders Margot R F, Venselaar Hanka, Helsmoortel Céline, 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, Oberndorff Karin, van Bon Bregje W M, Shaw Marie, Gecz Jozef, Haan Eric, Bienek Melanie, Jensen Corinna, Loeys Bart L, Van Dijck 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 and Kleefstra Tjitske. Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling. : American journal of human genetics. 20151029.