De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder

Margot R. F. Reijnders; Kerry A. Miller; Mohsan Alvi; Jacqueline A. C. Goos; Melissa M. Lees; Anna de Burca; Alex Henderson; Alison Kraus; Barbara Mikat; Bert B. A. de Vries; Bertrand Isidor; Bronwyn Kerr; Carlo Marcelis; Caroline Schluth-Bolard; Charu Deshpande; Claudia A. L. Ruivenkamp; Dagmar Wieczorek; Diana Baralle; Edward M. Blair; Hartmut Engels; Hermann-Josef Ludecke; Jacqueline Eason; Gijs W. E. Santen; Jill Clayton-Smith; Kate Chandler; Katrina Tatton-Brown; Katelyn Payne; Katherine Helbig; Kelly Radtke; Kimberly M. Nugent; Kirsten Cremer; Tim M. Strom; Lynne M. Bird; Margje Sinnema; Maria Bitner-Glindzicz; Marieke F. van Dooren; Marielle Alders; Marije Koopmans; Lauren Brick; Mariya Kozenko; Megan L. Harline; Merel Klaassens; Michelle Steinraths; Nicola S. Cooper; Patrick Edery; Patrick Yap; Paulien A. Terhal; Peter J. van der Spek; Alexander P. A. Stegmann; Han G. Brunner; Deciphering Dev Disorders Study; Andrew O.M. Wilkie

doi:10.1016/j.ajhg.2018.04.014

De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder

Margot R. F. Reijnders, Kerry A. Miller, Mohsan Alvi, Jacqueline A. C. Goos, Melissa M. Lees, Anna de Burca, Alex Henderson, Alison Kraus, Barbara Mikat, Bert B. A. de Vries, Bertrand Isidor, Bronwyn Kerr, Carlo Marcelis, Caroline Schluth-Bolard, Charu Deshpande, Claudia A. L. Ruivenkamp, Dagmar Wieczorek, Diana Baralle, Edward M. Blair, Hartmut EngelsHermann-Josef Ludecke, Jacqueline Eason, Gijs W. E. Santen, Jill Clayton-Smith, Kate Chandler, Katrina Tatton-Brown, Katelyn Payne, Katherine Helbig, Kelly Radtke, Kimberly M. Nugent, Kirsten Cremer, Tim M. Strom, Lynne M. Bird, Margje Sinnema, Maria Bitner-Glindzicz, Marieke F. van Dooren, Marielle Alders, Marije Koopmans, Lauren Brick, Mariya Kozenko, Megan L. Harline, Merel Klaassens, Michelle Steinraths, Nicola S. Cooper, Patrick Edery, Patrick Yap, Paulien A. Terhal, Peter J. van der Spek, Alexander P. A. Stegmann, Han G. Brunner^*, Deciphering Dev Disorders Study, Andrew O.M. Wilkie^*

^*Corresponding author for this work

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

Original language	English
Pages (from-to)	1195-1203
Number of pages	9
Journal	American Journal of Human Genetics
Volume	102
Issue number	6
DOIs	https://doi.org/10.1016/j.ajhg.2018.04.014
Publication status	Published - 7 Jun 2018

Keywords

TOUSLED-LIKE KINASES
GENES
MUTATIONS
Cell Line
Translocation, Genetic
Genetic Association Studies
Humans
Protein Kinases/genetics
Child, Preschool
Infant
Male
Loss of Function Mutation/genetics
RNA, Messenger/genetics
Young Adult
Inheritance Patterns/genetics
Base Sequence
Adolescent
Facies
Adult
Female
Child
Neurodevelopmental Disorders/genetics

Access to Document

10.1016/j.ajhg.2018.04.014

https://doi.org/10.1016/j.ajhg.2018.04.014

Cite this

Reijnders, M. R. F., Miller, K. A., Alvi, M., Goos, J. A. C., Lees, M. M., de Burca, A., Henderson, A., Kraus, A., Mikat, B., de Vries, B. B. A., Isidor, B., Kerr, B., Marcelis, C., Schluth-Bolard, C., Deshpande, C., Ruivenkamp, C. A. L., Wieczorek, D., Baralle, D., Blair, E. M., ... Wilkie, A. O. M. (2018). De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder. American Journal of Human Genetics, 102(6), 1195-1203. https://doi.org/10.1016/j.ajhg.2018.04.014

Reijnders, Margot R. F. ; Miller, Kerry A. ; Alvi, Mohsan ; Goos, Jacqueline A. C. ; Lees, Melissa M. ; de Burca, Anna ; Henderson, Alex ; Kraus, Alison ; Mikat, Barbara ; de Vries, Bert B. A. ; Isidor, Bertrand ; Kerr, Bronwyn ; Marcelis, Carlo ; Schluth-Bolard, Caroline ; Deshpande, Charu ; Ruivenkamp, Claudia A. L. ; Wieczorek, Dagmar ; Baralle, Diana ; Blair, Edward M. ; Engels, Hartmut ; Ludecke, Hermann-Josef ; Eason, Jacqueline ; Santen, Gijs W. E. ; Clayton-Smith, Jill ; Chandler, Kate ; Tatton-Brown, Katrina ; Payne, Katelyn ; Helbig, Katherine ; Radtke, Kelly ; Nugent, Kimberly M. ; Cremer, Kirsten ; Strom, Tim M. ; Bird, Lynne M. ; Sinnema, Margje ; Bitner-Glindzicz, Maria ; van Dooren, Marieke F. ; Alders, Marielle ; Koopmans, Marije ; Brick, Lauren ; Kozenko, Mariya ; Harline, Megan L. ; Klaassens, Merel ; Steinraths, Michelle ; Cooper, Nicola S. ; Edery, Patrick ; Yap, Patrick ; Terhal, Paulien A. ; van der Spek, Peter J. ; Stegmann, Alexander P. A. ; Brunner, Han G. ; Deciphering Dev Disorders Study ; Wilkie, Andrew O.M. / De Novo and Inherited Loss-of-Function Variants in TLK2 : Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder. In: American Journal of Human Genetics. 2018 ; Vol. 102, No. 6. pp. 1195-1203.

@article{694818f35c2c438085f2cc7867ebe360,

title = "De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder",

keywords = "TOUSLED-LIKE KINASES, GENES, MUTATIONS, Cell Line, Translocation, Genetic, Genetic Association Studies, Humans, Protein Kinases/genetics, Child, Preschool, Infant, Male, Loss of Function Mutation/genetics, RNA, Messenger/genetics, Young Adult, Inheritance Patterns/genetics, Base Sequence, Adolescent, Facies, Adult, Female, Child, Neurodevelopmental Disorders/genetics",

author = "Reijnders, {Margot R. F.} and Miller, {Kerry A.} and Mohsan Alvi and Goos, {Jacqueline A. C.} and Lees, {Melissa M.} and {de Burca}, Anna and Alex Henderson and Alison Kraus and Barbara Mikat and {de Vries}, {Bert B. A.} and Bertrand Isidor and Bronwyn Kerr and Carlo Marcelis and Caroline Schluth-Bolard and Charu Deshpande and Ruivenkamp, {Claudia A. L.} and Dagmar Wieczorek and Diana Baralle and Blair, {Edward M.} and Hartmut Engels and Hermann-Josef Ludecke and Jacqueline Eason and Santen, {Gijs W. E.} and Jill Clayton-Smith and Kate Chandler and Katrina Tatton-Brown and Katelyn Payne and Katherine Helbig and Kelly Radtke and Nugent, {Kimberly M.} and Kirsten Cremer and Strom, {Tim M.} and Bird, {Lynne M.} and Margje Sinnema and Maria Bitner-Glindzicz and {van Dooren}, {Marieke F.} and Marielle Alders and Marije Koopmans and Lauren Brick and Mariya Kozenko and Harline, {Megan L.} and Merel Klaassens and Michelle Steinraths and Cooper, {Nicola S.} and Patrick Edery and Patrick Yap and Terhal, {Paulien A.} and {van der Spek}, {Peter J.} and Stegmann, {Alexander P. A.} and Brunner, {Han G.} and {Deciphering Dev Disorders Study} and Wilkie, {Andrew O.M.}",

year = "2018",

month = jun,

day = "7",

doi = "10.1016/j.ajhg.2018.04.014",

language = "English",

volume = "102",

pages = "1195--1203",

journal = "American Journal of Human Genetics",

issn = "0002-9297",

publisher = "Cell Press",

number = "6",

}

Reijnders, MRF, Miller, KA, Alvi, M, Goos, JAC, Lees, MM, de Burca, A, Henderson, A, Kraus, A, Mikat, B, de Vries, BBA, Isidor, B, Kerr, B, Marcelis, C, Schluth-Bolard, C, Deshpande, C, Ruivenkamp, CAL, Wieczorek, D, Baralle, D, Blair, EM, Engels, H, Ludecke, H-J, Eason, J, Santen, GWE, Clayton-Smith, J, Chandler, K, Tatton-Brown, K, Payne, K, Helbig, K, Radtke, K, Nugent, KM, Cremer, K, Strom, TM, Bird, LM, Sinnema, M, Bitner-Glindzicz, M, van Dooren, MF, Alders, M, Koopmans, M, Brick, L, Kozenko, M, Harline, ML, Klaassens, M, Steinraths, M, Cooper, NS, Edery, P, Yap, P, Terhal, PA, van der Spek, PJ, Stegmann, APA , Brunner, HG, Deciphering Dev Disorders Study & Wilkie, AOM 2018, 'De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder', American Journal of Human Genetics, vol. 102, no. 6, pp. 1195-1203. https://doi.org/10.1016/j.ajhg.2018.04.014

De Novo and Inherited Loss-of-Function Variants in TLK2 : Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder. / Reijnders, Margot R. F.; Miller, Kerry A.; Alvi, Mohsan; Goos, Jacqueline A. C.; Lees, Melissa M.; de Burca, Anna; Henderson, Alex; Kraus, Alison; Mikat, Barbara; de Vries, Bert B. A.; Isidor, Bertrand; Kerr, Bronwyn; Marcelis, Carlo; Schluth-Bolard, Caroline; Deshpande, Charu; Ruivenkamp, Claudia A. L.; Wieczorek, Dagmar; Baralle, Diana; Blair, Edward M.; Engels, Hartmut; Ludecke, Hermann-Josef; Eason, Jacqueline; Santen, Gijs W. E.; Clayton-Smith, Jill; Chandler, Kate; Tatton-Brown, Katrina; Payne, Katelyn; Helbig, Katherine; Radtke, Kelly; Nugent, Kimberly M.; Cremer, Kirsten; Strom, Tim M.; Bird, Lynne M.; Sinnema, Margje; Bitner-Glindzicz, Maria; van Dooren, Marieke F.; Alders, Marielle; Koopmans, Marije; Brick, Lauren; Kozenko, Mariya; Harline, Megan L.; Klaassens, Merel; Steinraths, Michelle; Cooper, Nicola S.; Edery, Patrick; Yap, Patrick; Terhal, Paulien A.; van der Spek, Peter J.; Stegmann, Alexander P. A.; Brunner, Han G.; Deciphering Dev Disorders Study; Wilkie, Andrew O.M.

In: American Journal of Human Genetics, Vol. 102, No. 6, 07.06.2018, p. 1195-1203.

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

TY - JOUR

T1 - De Novo and Inherited Loss-of-Function Variants in TLK2

T2 - Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder

AU - Reijnders, Margot R. F.

AU - Miller, Kerry A.

AU - Alvi, Mohsan

AU - Goos, Jacqueline A. C.

AU - Lees, Melissa M.

AU - de Burca, Anna

AU - Henderson, Alex

AU - Kraus, Alison

AU - Mikat, Barbara

AU - de Vries, Bert B. A.

AU - Isidor, Bertrand

AU - Kerr, Bronwyn

AU - Marcelis, Carlo

AU - Schluth-Bolard, Caroline

AU - Deshpande, Charu

AU - Ruivenkamp, Claudia A. L.

AU - Wieczorek, Dagmar

AU - Baralle, Diana

AU - Blair, Edward M.

AU - Engels, Hartmut

AU - Ludecke, Hermann-Josef

AU - Eason, Jacqueline

AU - Santen, Gijs W. E.

AU - Clayton-Smith, Jill

AU - Chandler, Kate

AU - Tatton-Brown, Katrina

AU - Payne, Katelyn

AU - Helbig, Katherine

AU - Radtke, Kelly

AU - Nugent, Kimberly M.

AU - Cremer, Kirsten

AU - Strom, Tim M.

AU - Bird, Lynne M.

AU - Sinnema, Margje

AU - Bitner-Glindzicz, Maria

AU - van Dooren, Marieke F.

AU - Alders, Marielle

AU - Koopmans, Marije

AU - Brick, Lauren

AU - Kozenko, Mariya

AU - Harline, Megan L.

AU - Klaassens, Merel

AU - Steinraths, Michelle

AU - Cooper, Nicola S.

AU - Edery, Patrick

AU - Yap, Patrick

AU - Terhal, Paulien A.

AU - van der Spek, Peter J.

AU - Stegmann, Alexander P. A.

AU - Brunner, Han G.

AU - Deciphering Dev Disorders Study

AU - Wilkie, Andrew O.M.

PY - 2018/6/7

Y1 - 2018/6/7

KW - TOUSLED-LIKE KINASES

KW - GENES

KW - MUTATIONS

KW - Cell Line

KW - Translocation, Genetic

KW - Genetic Association Studies

KW - Humans

KW - Protein Kinases/genetics

KW - Child, Preschool

KW - Infant

KW - Male

KW - Loss of Function Mutation/genetics

KW - RNA, Messenger/genetics

KW - Young Adult

KW - Inheritance Patterns/genetics

KW - Base Sequence

KW - Adolescent

KW - Facies

KW - Adult

KW - Female

KW - Child

KW - Neurodevelopmental Disorders/genetics

U2 - 10.1016/j.ajhg.2018.04.014

DO - 10.1016/j.ajhg.2018.04.014

M3 - Article

VL - 102

SP - 1195

EP - 1203

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

SN - 0002-9297

IS - 6

ER -