The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant

DA (David) Koolen; R Pfundt; K Linda; G Beunders; HE Veenstra-Knol; J H Conta; A M Fortuna; G Gillessen-Kaesbach; S Dugan; S Halbach; OA Abdul-Rahman; H M Winesett; WK Chung; M Dalton; P S Dimova; T Mattina; K Prescott; H Z Zhang; HM Saal; JY Hehir-Kwa; MH Willemsen; C W Ockeloen; M C Jongmans; N Van der Aa; P Failla; C Barone; E Avola; Alice Brooks; SG Kant; E H Gerkes; HV Firth; K Ounap; LM Bird; D Masser-Frye; J R Friedman; M A Sokunbi; A Dixit; M Splitt; M K Kukolich; J McGaughran; BP Coe; J Florez; N N Kasri; HG Brunner; EM Thompson; J Gecz; C Romano; EE Eichler; BBA de Vries

doi:10.1038/ejhg.2015.178

The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant

DA (David) Koolen
, R Pfundt
, K Linda
, G Beunders
, HE Veenstra-Knol
, J H Conta
, A M Fortuna
, G Gillessen-Kaesbach
, S Dugan
, S Halbach
, OA Abdul-Rahman
, H M Winesett
, WK Chung
, M Dalton
, P S Dimova
, T Mattina
, K Prescott
, H Z Zhang
, HM Saal
, JY Hehir-Kwa

MH Willemsen, C W Ockeloen, M C Jongmans, N Van der Aa, P Failla, C Barone, E Avola, Alice Brooks, SG Kant, E H Gerkes, HV Firth, K Ounap, LM Bird, D Masser-Frye, J R Friedman, M A Sokunbi, A Dixit, M Splitt, M K Kukolich, J McGaughran, BP Coe, J Florez, N N Kasri, HG Brunner, EM Thompson, J Gecz, C Romano, EE Eichler, BBA de Vries

Clinical Genetics

External organisation

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

116 Citations (Scopus)

Original language	Undefined/Unknown
Pages (from-to)	652-659
Number of pages	8
Journal	European Journal of Human Genetics
Volume	24
Issue number	5
DOIs	https://doi.org/10.1038/ejhg.2015.178
Publication status	Published - 2016

Research programs

EMC MGC-02-96-01

Access to Document

10.1038/ejhg.2015.178

http://hdl.handle.net/1765/86135

Cite this

Koolen, DA., Pfundt, R., Linda, K., Beunders, G., Veenstra-Knol, HE., Conta, J. H., Fortuna, A. M., Gillessen-Kaesbach, G., Dugan, S., Halbach, S., Abdul-Rahman, OA., Winesett, H. M., Chung, WK., Dalton, M., Dimova, P. S., Mattina, T., Prescott, K., Zhang, H. Z., Saal, HM., ... de Vries, BBA. (2016). The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant. European Journal of Human Genetics, 24(5), 652-659. https://doi.org/10.1038/ejhg.2015.178

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title = "The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant",

author = "Koolen, \{DA (David)\} and R Pfundt and K Linda and G Beunders and HE Veenstra-Knol and Conta, \{J H\} and Fortuna, \{A M\} and G Gillessen-Kaesbach and S Dugan and S Halbach and OA Abdul-Rahman and Winesett, \{H M\} and WK Chung and M Dalton and Dimova, \{P S\} and T Mattina and K Prescott and Zhang, \{H Z\} and HM Saal and JY Hehir-Kwa and MH Willemsen and Ockeloen, \{C W\} and Jongmans, \{M C\} and \{Van der Aa\}, N and P Failla and C Barone and E Avola and Alice Brooks and SG Kant and Gerkes, \{E H\} and HV Firth and K Ounap and LM Bird and D Masser-Frye and Friedman, \{J R\} and Sokunbi, \{M A\} and A Dixit and M Splitt and Kukolich, \{M K\} and J McGaughran and BP Coe and J Florez and Kasri, \{N N\} and HG Brunner and EM Thompson and J Gecz and C Romano and EE Eichler and \{de Vries\}, BBA",

year = "2016",

doi = "10.1038/ejhg.2015.178",

language = "Undefined/Unknown",

volume = "24",

pages = "652--659",

journal = "European Journal of Human Genetics",

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Koolen, DA, Pfundt, R, Linda, K, Beunders, G, Veenstra-Knol, HE, Conta, JH, Fortuna, AM, Gillessen-Kaesbach, G, Dugan, S, Halbach, S, Abdul-Rahman, OA, Winesett, HM, Chung, WK, Dalton, M, Dimova, PS, Mattina, T, Prescott, K, Zhang, HZ, Saal, HM, Hehir-Kwa, JY, Willemsen, MH, Ockeloen, CW, Jongmans, MC, Van der Aa, N, Failla, P, Barone, C, Avola, E, Brooks, A, Kant, SG, Gerkes, EH, Firth, HV, Ounap, K, Bird, LM, Masser-Frye, D, Friedman, JR, Sokunbi, MA, Dixit, A, Splitt, M, Kukolich, MK, McGaughran, J, Coe, BP, Florez, J, Kasri, NN, Brunner, HG, Thompson, EM, Gecz, J, Romano, C, Eichler, EE & de Vries, BBA 2016, 'The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant', European Journal of Human Genetics, vol. 24, no. 5, pp. 652-659. https://doi.org/10.1038/ejhg.2015.178

TY - JOUR

T1 - The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant

AU - Koolen, DA (David)

AU - Pfundt, R

AU - Linda, K

AU - Beunders, G

AU - Veenstra-Knol, HE

AU - Conta, J H

AU - Fortuna, A M

AU - Gillessen-Kaesbach, G

AU - Dugan, S

AU - Halbach, S

AU - Abdul-Rahman, OA

AU - Winesett, H M

AU - Chung, WK

AU - Dalton, M

AU - Dimova, P S

AU - Mattina, T

AU - Prescott, K

AU - Zhang, H Z

AU - Saal, HM

AU - Hehir-Kwa, JY

AU - Willemsen, MH

AU - Ockeloen, C W

AU - Jongmans, M C

AU - Van der Aa, N

AU - Failla, P

AU - Barone, C

AU - Avola, E

AU - Brooks, Alice

AU - Kant, SG

AU - Gerkes, E H

AU - Firth, HV

AU - Ounap, K

AU - Bird, LM

AU - Masser-Frye, D

AU - Friedman, J R

AU - Sokunbi, M A

AU - Dixit, A

AU - Splitt, M

AU - Kukolich, M K

AU - McGaughran, J

AU - Coe, BP

AU - Florez, J

AU - Kasri, N N

AU - Brunner, HG

AU - Thompson, EM

AU - Gecz, J

AU - Romano, C

AU - Eichler, EE

AU - de Vries, BBA

PY - 2016

Y1 - 2016

U2 - 10.1038/ejhg.2015.178

DO - 10.1038/ejhg.2015.178

M3 - Article

C2 - 26306646

SN - 1018-4813

VL - 24

SP - 652

EP - 659

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

IS - 5

ER -