De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability

S Kury; Geeske van Woerden; T Besnard; Martina Proietti Onori; X Latypova; MC Towne; M T Cho; TE Prescott; MA (Melissa) Ploeg; S Sanders; HAF Stessman; A Pujol; D Ben; LA Robak; JA Bernstein; AS Denomme-Pichon; G Lesca; EA Sellars; J Berg; W Carre; OL Busk; BWM van Bon; JL Waugh; M Deardorff; GE Hoganson; KB Bosanko; DS Johnson; T Dabir; OL Holla; A Sarkar; K Tveten; J de Bellescize; GJ Braathen; PA Terhal; DK Grange; A van Haeringen; C Lam; G Mirzaa; J Burton; EJ Bhoj; J Douglas; AB Santani; AI Nesbitt; KL Helbig; MV Andrews; A Begtrup; S Tang; K L I van Gassen; J Juusola; K Foss; GM Enns; U Moog; K Hinderhofer; N Paramasivam; S Lincoln; BH Kusako; P Lindenbaum; E Charpentier; CB Nowak; E Cherot; T Simonet; CAL Ruivenkamp; S Hahn; CA Brownstein; F Xia; S Schmitt; W Deb; D Bonneau; M Nizon; D Quinquis; J Chelly; G Rudolf; D Sanlaville; P Parent; B Gilbert-Dussardier; A Toutain; V R Sutton; J Thies; L Peart-Vissers; P Boisseau; M Vincent; AM Grabrucker; C Dubourg; WH Tan; NE Verbeek; M Granzow; GWE Santen; J Shendure; B Isidor; L Pasquier; R Redon; YP Yang; MW State; T Kleefstra; B Cogne; S Petrovski; K Retterer; EE Eichler; JA Rosenfeld; PB Agrawal; S Bezieau; S Odent; Ype Elgersma; S Mercier

doi:10.1016/j.ajhg.2017.10.003

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability

S Kury, Geeske van Woerden, T Besnard, Martina Proietti Onori, X Latypova, MC Towne, M T Cho, TE Prescott, MA (Melissa) Ploeg, S Sanders, HAF Stessman, A Pujol, D Ben, LA Robak, JA Bernstein, AS Denomme-Pichon, G Lesca, EA Sellars, J Berg, W CarreOL Busk, BWM van Bon, JL Waugh, M Deardorff, GE Hoganson, KB Bosanko, DS Johnson, T Dabir, OL Holla, A Sarkar, K Tveten, J de Bellescize, GJ Braathen, PA Terhal, DK Grange, A van Haeringen, C Lam, G Mirzaa, J Burton, EJ Bhoj, J Douglas, AB Santani, AI Nesbitt, KL Helbig, MV Andrews, A Begtrup, S Tang, K L I van Gassen, J Juusola, K Foss, GM Enns, U Moog, K Hinderhofer, N Paramasivam, S Lincoln, BH Kusako, P Lindenbaum, E Charpentier, CB Nowak, E Cherot, T Simonet, CAL Ruivenkamp, S Hahn, CA Brownstein, F Xia, S Schmitt, W Deb, D Bonneau, M Nizon, D Quinquis, J Chelly, G Rudolf, D Sanlaville, P Parent, B Gilbert-Dussardier, A Toutain, V R Sutton, J Thies, L Peart-Vissers, P Boisseau, M Vincent, AM Grabrucker, C Dubourg, WH Tan, NE Verbeek, M Granzow, GWE Santen, J Shendure, B Isidor, L Pasquier, R Redon, YP Yang, MW State, T Kleefstra, B Cogne, S Petrovski, K Retterer, EE Eichler, JA Rosenfeld, PB Agrawal, S Bezieau, S Odent, Ype Elgersma, S Mercier

Neurosciences

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

72 Citations (Scopus)

Original language	English
Pages (from-to)	768-788
Number of pages	21
Journal	American Journal of Human Genetics
Volume	101
Issue number	5
DOIs	https://doi.org/10.1016/j.ajhg.2017.10.003
Publication status	Published - 2017

Access to Document

10.1016/j.ajhg.2017.10.003

http://hdl.handle.net/1765/102880

Cite this

Kury, S., van Woerden, G., Besnard, T., Proietti Onori, M., Latypova, X., Towne, MC., Cho, M. T., Prescott, TE., Ploeg, MA., Sanders, S., Stessman, HAF., Pujol, A., Ben, D., Robak, LA., Bernstein, JA., Denomme-Pichon, AS., Lesca, G., Sellars, EA., Berg, J., ... Mercier, S. (2017). De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. American Journal of Human Genetics, 101(5), 768-788. https://doi.org/10.1016/j.ajhg.2017.10.003

Kury, S ; van Woerden, Geeske ; Besnard, T ; Proietti Onori, Martina ; Latypova, X ; Towne, MC ; Cho, M T ; Prescott, TE ; Ploeg, MA (Melissa) ; Sanders, S ; Stessman, HAF ; Pujol, A ; Ben, D ; Robak, LA ; Bernstein, JA ; Denomme-Pichon, AS ; Lesca, G ; Sellars, EA ; Berg, J ; Carre, W ; Busk, OL ; van Bon, BWM ; Waugh, JL ; Deardorff, M ; Hoganson, GE ; Bosanko, KB ; Johnson, DS ; Dabir, T ; Holla, OL ; Sarkar, A ; Tveten, K ; de Bellescize, J ; Braathen, GJ ; Terhal, PA ; Grange, DK ; van Haeringen, A ; Lam, C ; Mirzaa, G ; Burton, J ; Bhoj, EJ ; Douglas, J ; Santani, AB ; Nesbitt, AI ; Helbig, KL ; Andrews, MV ; Begtrup, A ; Tang, S ; van Gassen, K L I ; Juusola, J ; Foss, K ; Enns, GM ; Moog, U ; Hinderhofer, K ; Paramasivam, N ; Lincoln, S ; Kusako, BH ; Lindenbaum, P ; Charpentier, E ; Nowak, CB ; Cherot, E ; Simonet, T ; Ruivenkamp, CAL ; Hahn, S ; Brownstein, CA ; Xia, F ; Schmitt, S ; Deb, W ; Bonneau, D ; Nizon, M ; Quinquis, D ; Chelly, J ; Rudolf, G ; Sanlaville, D ; Parent, P ; Gilbert-Dussardier, B ; Toutain, A ; Sutton, V R ; Thies, J ; Peart-Vissers, L ; Boisseau, P ; Vincent, M ; Grabrucker, AM ; Dubourg, C ; Tan, WH ; Verbeek, NE ; Granzow, M ; Santen, GWE ; Shendure, J ; Isidor, B ; Pasquier, L ; Redon, R ; Yang, YP ; State, MW ; Kleefstra, T ; Cogne, B ; Petrovski, S ; Retterer, K ; Eichler, EE ; Rosenfeld, JA ; Agrawal, PB ; Bezieau, S ; Odent, S ; Elgersma, Ype ; Mercier, S. / De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. In: American Journal of Human Genetics. 2017 ; Vol. 101, No. 5. pp. 768-788.

@article{d16fc348b3614fba8f5da173e564f408,

title = "De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability",

author = "S Kury and {van Woerden}, Geeske and T Besnard and {Proietti Onori}, Martina and X Latypova and MC Towne and Cho, {M T} and TE Prescott and Ploeg, {MA (Melissa)} and S Sanders and HAF Stessman and A Pujol and D Ben and LA Robak and JA Bernstein and AS Denomme-Pichon and G Lesca and EA Sellars and J Berg and W Carre and OL Busk and {van Bon}, BWM and JL Waugh and M Deardorff and GE Hoganson and KB Bosanko and DS Johnson and T Dabir and OL Holla and A Sarkar and K Tveten and {de Bellescize}, J and GJ Braathen and PA Terhal and DK Grange and {van Haeringen}, A and C Lam and G Mirzaa and J Burton and EJ Bhoj and J Douglas and AB Santani and AI Nesbitt and KL Helbig and MV Andrews and A Begtrup and S Tang and {van Gassen}, {K L I} and J Juusola and K Foss and GM Enns and U Moog and K Hinderhofer and N Paramasivam and S Lincoln and BH Kusako and P Lindenbaum and E Charpentier and CB Nowak and E Cherot and T Simonet and CAL Ruivenkamp and S Hahn and CA Brownstein and F Xia and S Schmitt and W Deb and D Bonneau and M Nizon and D Quinquis and J Chelly and G Rudolf and D Sanlaville and P Parent and B Gilbert-Dussardier and A Toutain and Sutton, {V R} and J Thies and L Peart-Vissers and P Boisseau and M Vincent and AM Grabrucker and C Dubourg and WH Tan and NE Verbeek and M Granzow and GWE Santen and J Shendure and B Isidor and L Pasquier and R Redon and YP Yang and MW State and T Kleefstra and B Cogne and S Petrovski and K Retterer and EE Eichler and JA Rosenfeld and PB Agrawal and S Bezieau and S Odent and Ype Elgersma and S Mercier",

year = "2017",

doi = "10.1016/j.ajhg.2017.10.003",

language = "English",

volume = "101",

pages = "768--788",

journal = "American Journal of Human Genetics",

issn = "0002-9297",

publisher = "Cell Press",

number = "5",

}

Kury, S, van Woerden, G, Besnard, T, Proietti Onori, M, Latypova, X, Towne, MC, Cho, MT, Prescott, TE, Ploeg, MA, Sanders, S, Stessman, HAF, Pujol, A, Ben, D, Robak, LA, Bernstein, JA, Denomme-Pichon, AS, Lesca, G, Sellars, EA, Berg, J, Carre, W, Busk, OL, van Bon, BWM, Waugh, JL, Deardorff, M, Hoganson, GE, Bosanko, KB, Johnson, DS, Dabir, T, Holla, OL, Sarkar, A, Tveten, K, de Bellescize, J, Braathen, GJ, Terhal, PA, Grange, DK, van Haeringen, A, Lam, C, Mirzaa, G, Burton, J, Bhoj, EJ, Douglas, J, Santani, AB, Nesbitt, AI, Helbig, KL, Andrews, MV, Begtrup, A, Tang, S, van Gassen, KLI, Juusola, J, Foss, K, Enns, GM, Moog, U, Hinderhofer, K, Paramasivam, N, Lincoln, S, Kusako, BH, Lindenbaum, P, Charpentier, E, Nowak, CB, Cherot, E, Simonet, T, Ruivenkamp, CAL, Hahn, S, Brownstein, CA, Xia, F, Schmitt, S, Deb, W, Bonneau, D, Nizon, M, Quinquis, D, Chelly, J, Rudolf, G, Sanlaville, D, Parent, P, Gilbert-Dussardier, B, Toutain, A, Sutton, VR, Thies, J, Peart-Vissers, L, Boisseau, P, Vincent, M, Grabrucker, AM, Dubourg, C, Tan, WH, Verbeek, NE, Granzow, M, Santen, GWE, Shendure, J, Isidor, B, Pasquier, L, Redon, R, Yang, YP, State, MW, Kleefstra, T, Cogne, B, Petrovski, S, Retterer, K, Eichler, EE, Rosenfeld, JA, Agrawal, PB, Bezieau, S, Odent, S, Elgersma, Y & Mercier, S 2017, 'De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability', American Journal of Human Genetics, vol. 101, no. 5, pp. 768-788. https://doi.org/10.1016/j.ajhg.2017.10.003

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. / Kury, S; van Woerden, Geeske; Besnard, T; Proietti Onori, Martina; Latypova, X; Towne, MC; Cho, M T; Prescott, TE; Ploeg, MA (Melissa); Sanders, S; Stessman, HAF; Pujol, A; Ben, D; Robak, LA; Bernstein, JA; Denomme-Pichon, AS; Lesca, G; Sellars, EA; Berg, J; Carre, W; Busk, OL; van Bon, BWM; Waugh, JL; Deardorff, M; Hoganson, GE; Bosanko, KB; Johnson, DS; Dabir, T; Holla, OL; Sarkar, A; Tveten, K; de Bellescize, J; Braathen, GJ; Terhal, PA; Grange, DK; van Haeringen, A; Lam, C; Mirzaa, G; Burton, J; Bhoj, EJ; Douglas, J; Santani, AB; Nesbitt, AI; Helbig, KL; Andrews, MV; Begtrup, A; Tang, S; van Gassen, K L I; Juusola, J; Foss, K; Enns, GM; Moog, U; Hinderhofer, K; Paramasivam, N; Lincoln, S; Kusako, BH; Lindenbaum, P; Charpentier, E; Nowak, CB; Cherot, E; Simonet, T; Ruivenkamp, CAL; Hahn, S; Brownstein, CA; Xia, F; Schmitt, S; Deb, W; Bonneau, D; Nizon, M; Quinquis, D; Chelly, J; Rudolf, G; Sanlaville, D; Parent, P; Gilbert-Dussardier, B; Toutain, A; Sutton, V R; Thies, J; Peart-Vissers, L; Boisseau, P; Vincent, M; Grabrucker, AM; Dubourg, C; Tan, WH; Verbeek, NE; Granzow, M; Santen, GWE; Shendure, J; Isidor, B; Pasquier, L; Redon, R; Yang, YP; State, MW; Kleefstra, T; Cogne, B; Petrovski, S; Retterer, K; Eichler, EE; Rosenfeld, JA; Agrawal, PB; Bezieau, S; Odent, S; Elgersma, Ype; Mercier, S.

In: American Journal of Human Genetics, Vol. 101, No. 5, 2017, p. 768-788.

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

TY - JOUR

T1 - De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability

AU - Kury, S

AU - van Woerden, Geeske

AU - Besnard, T

AU - Proietti Onori, Martina

AU - Latypova, X

AU - Towne, MC

AU - Cho, M T

AU - Prescott, TE

AU - Ploeg, MA (Melissa)

AU - Sanders, S

AU - Stessman, HAF

AU - Pujol, A

AU - Ben, D

AU - Robak, LA

AU - Bernstein, JA

AU - Denomme-Pichon, AS

AU - Lesca, G

AU - Sellars, EA

AU - Berg, J

AU - Carre, W

AU - Busk, OL

AU - van Bon, BWM

AU - Waugh, JL

AU - Deardorff, M

AU - Hoganson, GE

AU - Bosanko, KB

AU - Johnson, DS

AU - Dabir, T

AU - Holla, OL

AU - Sarkar, A

AU - Tveten, K

AU - de Bellescize, J

AU - Braathen, GJ

AU - Terhal, PA

AU - Grange, DK

AU - van Haeringen, A

AU - Lam, C

AU - Mirzaa, G

AU - Burton, J

AU - Bhoj, EJ

AU - Douglas, J

AU - Santani, AB

AU - Nesbitt, AI

AU - Helbig, KL

AU - Andrews, MV

AU - Begtrup, A

AU - Tang, S

AU - van Gassen, K L I

AU - Juusola, J

AU - Foss, K

AU - Enns, GM

AU - Moog, U

AU - Hinderhofer, K

AU - Paramasivam, N

AU - Lincoln, S

AU - Kusako, BH

AU - Lindenbaum, P

AU - Charpentier, E

AU - Nowak, CB

AU - Cherot, E

AU - Simonet, T

AU - Ruivenkamp, CAL

AU - Hahn, S

AU - Brownstein, CA

AU - Xia, F

AU - Schmitt, S

AU - Deb, W

AU - Bonneau, D

AU - Nizon, M

AU - Quinquis, D

AU - Chelly, J

AU - Rudolf, G

AU - Sanlaville, D

AU - Parent, P

AU - Gilbert-Dussardier, B

AU - Toutain, A

AU - Sutton, V R

AU - Thies, J

AU - Peart-Vissers, L

AU - Boisseau, P

AU - Vincent, M

AU - Grabrucker, AM

AU - Dubourg, C

AU - Tan, WH

AU - Verbeek, NE

AU - Granzow, M

AU - Santen, GWE

AU - Shendure, J

AU - Isidor, B

AU - Pasquier, L

AU - Redon, R

AU - Yang, YP

AU - State, MW

AU - Kleefstra, T

AU - Cogne, B

AU - Petrovski, S

AU - Retterer, K

AU - Eichler, EE

AU - Rosenfeld, JA

AU - Agrawal, PB

AU - Bezieau, S

AU - Odent, S

AU - Elgersma, Ype

AU - Mercier, S

PY - 2017

Y1 - 2017

U2 - 10.1016/j.ajhg.2017.10.003

DO - 10.1016/j.ajhg.2017.10.003

M3 - Article

VL - 101

SP - 768

EP - 788

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

SN - 0002-9297

IS - 5

ER -