De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism

Illja J. Diets; Roos van der Donk; Kristina Baltrunaite; Esme Waanders; Margot R. F. Reijnders; Alexander J. M. Dingemans; Rolph Pfundt; Anneke T. Vulto-van Silfhout; Laurens Wiel; Christian Gilissen; Julien Thevenon; Laurence Perrin; Alexandra Afenjar; Caroline Nava; Boris Keren; Sarah Bartz; Bethany Peri; Gea Beunders; Nienke Verbeek; Koen van Gassen; Isabelle Thiffault; Maxime Cadieux-Dion; Lina Huerta-Saenz; Matias Wagner; Vassiliki Konstantopoulou; Julia Vodopiutz; Matthias Griese; Annekatrien Boel; Bert Callewaert; Han G. Brunner; Tjitske Kleefstra; Nicoline Hoogerbrugge; Bert B. A. de Vries; Vivian Hwa; Andrew Dauber; Jayne Y. Hehir-Kwa; Roland P. Kuiper; Marjolijn C. J. Jongmans

doi:10.1016/j.ajhg.2019.02.023

De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism

Illja J. Diets, Roos van der Donk, Kristina Baltrunaite, Esme Waanders, Margot R. F. Reijnders, Alexander J. M. Dingemans, Rolph Pfundt, Anneke T. Vulto-van Silfhout, Laurens Wiel, Christian Gilissen, Julien Thevenon, Laurence Perrin, Alexandra Afenjar, Caroline Nava, Boris Keren, Sarah Bartz, Bethany Peri, Gea Beunders, Nienke Verbeek, Koen van GassenIsabelle Thiffault, Maxime Cadieux-Dion, Lina Huerta-Saenz, Matias Wagner, Vassiliki Konstantopoulou, Julia Vodopiutz, Matthias Griese, Annekatrien Boel, Bert Callewaert, Han G. Brunner, Tjitske Kleefstra, Nicoline Hoogerbrugge, Bert B. A. de Vries, Vivian Hwa, Andrew Dauber, Jayne Y. Hehir-Kwa, Roland P. Kuiper, Marjolijn C. J. Jongmans^*

^*Corresponding author for this work

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

Original language	English
Pages (from-to)	758-766
Number of pages	9
Journal	American Journal of Human Genetics
Volume	104
Issue number	4
DOIs	https://doi.org/10.1016/j.ajhg.2019.02.023
Publication status	Published - 4 Apr 2019

Keywords

RUBINSTEIN-TAYBI SYNDROME
DEMETHYLASE KDM3B
MYELOID-LEUKEMIA
WEAVER SYNDROME
MUTATIONS
PROTEIN
INDIVIDUALS
GENETICS
DELETION
JMJD1C

Access to Document

10.1016/j.ajhg.2019.02.023

Cite this

Diets, I. J., van der Donk, R., Baltrunaite, K., Waanders, E., Reijnders, M. R. F., Dingemans, A. J. M., Pfundt, R., Vulto-van Silfhout, A. T., Wiel, L., Gilissen, C., Thevenon, J., Perrin, L., Afenjar, A., Nava, C., Keren, B., Bartz, S., Peri, B., Beunders, G., Verbeek, N., ... Jongmans, M. C. J. (2019). De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism. American Journal of Human Genetics, 104(4), 758-766. https://doi.org/10.1016/j.ajhg.2019.02.023

Diets, Illja J. ; van der Donk, Roos ; Baltrunaite, Kristina ; Waanders, Esme ; Reijnders, Margot R. F. ; Dingemans, Alexander J. M. ; Pfundt, Rolph ; Vulto-van Silfhout, Anneke T. ; Wiel, Laurens ; Gilissen, Christian ; Thevenon, Julien ; Perrin, Laurence ; Afenjar, Alexandra ; Nava, Caroline ; Keren, Boris ; Bartz, Sarah ; Peri, Bethany ; Beunders, Gea ; Verbeek, Nienke ; van Gassen, Koen ; Thiffault, Isabelle ; Cadieux-Dion, Maxime ; Huerta-Saenz, Lina ; Wagner, Matias ; Konstantopoulou, Vassiliki ; Vodopiutz, Julia ; Griese, Matthias ; Boel, Annekatrien ; Callewaert, Bert ; Brunner, Han G. ; Kleefstra, Tjitske ; Hoogerbrugge, Nicoline ; de Vries, Bert B. A. ; Hwa, Vivian ; Dauber, Andrew ; Hehir-Kwa, Jayne Y. ; Kuiper, Roland P. ; Jongmans, Marjolijn C. J. / De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism. In: American Journal of Human Genetics. 2019 ; Vol. 104, No. 4. pp. 758-766.

@article{547dbf6f13af498b98c30ebfed2993a9,

title = "De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism",

keywords = "RUBINSTEIN-TAYBI SYNDROME, DEMETHYLASE KDM3B, MYELOID-LEUKEMIA, WEAVER SYNDROME, MUTATIONS, PROTEIN, INDIVIDUALS, GENETICS, DELETION, JMJD1C",

author = "Diets, {Illja J.} and {van der Donk}, Roos and Kristina Baltrunaite and Esme Waanders and Reijnders, {Margot R. F.} and Dingemans, {Alexander J. M.} and Rolph Pfundt and {Vulto-van Silfhout}, {Anneke T.} and Laurens Wiel and Christian Gilissen and Julien Thevenon and Laurence Perrin and Alexandra Afenjar and Caroline Nava and Boris Keren and Sarah Bartz and Bethany Peri and Gea Beunders and Nienke Verbeek and {van Gassen}, Koen and Isabelle Thiffault and Maxime Cadieux-Dion and Lina Huerta-Saenz and Matias Wagner and Vassiliki Konstantopoulou and Julia Vodopiutz and Matthias Griese and Annekatrien Boel and Bert Callewaert and Brunner, {Han G.} and Tjitske Kleefstra and Nicoline Hoogerbrugge and {de Vries}, {Bert B. A.} and Vivian Hwa and Andrew Dauber and Hehir-Kwa, {Jayne Y.} and Kuiper, {Roland P.} and Jongmans, {Marjolijn C. J.}",

year = "2019",

month = apr,

day = "4",

doi = "10.1016/j.ajhg.2019.02.023",

language = "English",

volume = "104",

pages = "758--766",

journal = "American Journal of Human Genetics",

issn = "0002-9297",

publisher = "Cell Press",

number = "4",

}

Diets, IJ, van der Donk, R, Baltrunaite, K, Waanders, E, Reijnders, MRF, Dingemans, AJM, Pfundt, R, Vulto-van Silfhout, AT, Wiel, L, Gilissen, C, Thevenon, J, Perrin, L, Afenjar, A, Nava, C, Keren, B, Bartz, S, Peri, B, Beunders, G, Verbeek, N, van Gassen, K, Thiffault, I, Cadieux-Dion, M, Huerta-Saenz, L, Wagner, M, Konstantopoulou, V, Vodopiutz, J, Griese, M, Boel, A, Callewaert, B, Brunner, HG, Kleefstra, T, Hoogerbrugge, N, de Vries, BBA, Hwa, V, Dauber, A, Hehir-Kwa, JY, Kuiper, RP & Jongmans, MCJ 2019, 'De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism', American Journal of Human Genetics, vol. 104, no. 4, pp. 758-766. https://doi.org/10.1016/j.ajhg.2019.02.023

De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism. / Diets, Illja J.; van der Donk, Roos; Baltrunaite, Kristina; Waanders, Esme; Reijnders, Margot R. F.; Dingemans, Alexander J. M.; Pfundt, Rolph; Vulto-van Silfhout, Anneke T.; Wiel, Laurens; Gilissen, Christian; Thevenon, Julien; Perrin, Laurence; Afenjar, Alexandra; Nava, Caroline; Keren, Boris; Bartz, Sarah; Peri, Bethany; Beunders, Gea; Verbeek, Nienke; van Gassen, Koen; Thiffault, Isabelle; Cadieux-Dion, Maxime; Huerta-Saenz, Lina; Wagner, Matias; Konstantopoulou, Vassiliki; Vodopiutz, Julia; Griese, Matthias; Boel, Annekatrien; Callewaert, Bert; Brunner, Han G.; Kleefstra, Tjitske; Hoogerbrugge, Nicoline; de Vries, Bert B. A.; Hwa, Vivian; Dauber, Andrew; Hehir-Kwa, Jayne Y.; Kuiper, Roland P.; Jongmans, Marjolijn C. J.

In: American Journal of Human Genetics, Vol. 104, No. 4, 04.04.2019, p. 758-766.

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

TY - JOUR

T1 - De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism

AU - Diets, Illja J.

AU - van der Donk, Roos

AU - Baltrunaite, Kristina

AU - Waanders, Esme

AU - Reijnders, Margot R. F.

AU - Dingemans, Alexander J. M.

AU - Pfundt, Rolph

AU - Vulto-van Silfhout, Anneke T.

AU - Wiel, Laurens

AU - Gilissen, Christian

AU - Thevenon, Julien

AU - Perrin, Laurence

AU - Afenjar, Alexandra

AU - Nava, Caroline

AU - Keren, Boris

AU - Bartz, Sarah

AU - Peri, Bethany

AU - Beunders, Gea

AU - Verbeek, Nienke

AU - van Gassen, Koen

AU - Thiffault, Isabelle

AU - Cadieux-Dion, Maxime

AU - Huerta-Saenz, Lina

AU - Wagner, Matias

AU - Konstantopoulou, Vassiliki

AU - Vodopiutz, Julia

AU - Griese, Matthias

AU - Boel, Annekatrien

AU - Callewaert, Bert

AU - Brunner, Han G.

AU - Kleefstra, Tjitske

AU - Hoogerbrugge, Nicoline

AU - de Vries, Bert B. A.

AU - Hwa, Vivian

AU - Dauber, Andrew

AU - Hehir-Kwa, Jayne Y.

AU - Kuiper, Roland P.

AU - Jongmans, Marjolijn C. J.

PY - 2019/4/4

Y1 - 2019/4/4

KW - RUBINSTEIN-TAYBI SYNDROME

KW - DEMETHYLASE KDM3B

KW - MYELOID-LEUKEMIA

KW - WEAVER SYNDROME

KW - MUTATIONS

KW - PROTEIN

KW - INDIVIDUALS

KW - GENETICS

KW - DELETION

KW - JMJD1C

U2 - 10.1016/j.ajhg.2019.02.023

DO - 10.1016/j.ajhg.2019.02.023

M3 - Article

VL - 104

SP - 758

EP - 766

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

SN - 0002-9297

IS - 4

ER -