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

David A. Koolen; Rolph Pfundt; Katrin Linda; Gea Beunders; Hermine E. Veenstra-Knol; Jessie H. Conta; Ana Maria Fortuna; Gabriele Gillessen-Kaesbach; Sarah Dugan; Sara Halbach; Omar A. Abdul-Rahman; Heather M. Winesett; Wendy K. Chung; Marguerite Dalton; Petia S. Dimova; Teresa Mattina; Katrina Prescott; Hui Z. Zhang; Howard M. Saal; Jayne Y. Hehir-Kwa; Marjolein H. Willemsen; Charlotte W. Ockeloen; Marjolijn C. Jongmans; Nathalie Van der Aa; Pinella Failla; Concetta Barone; Emanuela Avola; Alice S. Brooks; Sarina G. Kant; Erica H. Gerkes; Helen V. Firth; Katrin Ounap; Lynne M. Bird; Diane Masser-Frye; Jennifer R. Friedman; Modupe A. Sokunbi; Abhijit Dixit; Miranda Splitt; Mary K. Kukolich; Julie McGaughran; Bradley P. Coe; Jesus Florez; Nael Nadif Kasri; Han G. Brunner; Elizabeth M. Thompson; Jozef Gecz; Corrado Romano; Evan E. Eichler; Bert B. A. 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

David A. Koolen^*, Rolph Pfundt, Katrin Linda, Gea Beunders, Hermine E. Veenstra-Knol, Jessie H. Conta, Ana Maria Fortuna, Gabriele Gillessen-Kaesbach, Sarah Dugan, Sara Halbach, Omar A. Abdul-Rahman, Heather M. Winesett, Wendy K. Chung, Marguerite Dalton, Petia S. Dimova, Teresa Mattina, Katrina Prescott, Hui Z. Zhang, Howard M. Saal, Jayne Y. Hehir-KwaMarjolein H. Willemsen, Charlotte W. Ockeloen, Marjolijn C. Jongmans, Nathalie Van der Aa, Pinella Failla, Concetta Barone, Emanuela Avola, Alice S. Brooks, Sarina G. Kant, Erica H. Gerkes, Helen V. Firth, Katrin Ounap, Lynne M. Bird, Diane Masser-Frye, Jennifer R. Friedman, Modupe A. Sokunbi, Abhijit Dixit, Miranda Splitt, Mary K. Kukolich, Julie McGaughran, Bradley P. Coe, Jesus Florez, Nael Nadif Kasri, Han G. Brunner, Elizabeth M. Thompson, Jozef Gecz, Corrado Romano, Evan E. Eichler, Bert B. A. de Vries

^*Corresponding author for this work

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

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

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10.1038/ejhg.2015.178

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Koolen, D. A., Pfundt, R., Linda, K., Beunders, G., Veenstra-Knol, H. E., Conta, J. H., Fortuna, A. M., Gillessen-Kaesbach, G., Dugan, S., Halbach, S., Abdul-Rahman, O. A., Winesett, H. M., Chung, W. K., Dalton, M., Dimova, P. S., Mattina, T., Prescott, K., Zhang, H. Z., Saal, H. M., ... de Vries, B. B. A. (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

Koolen, David A. ; Pfundt, Rolph ; Linda, Katrin ; Beunders, Gea ; Veenstra-Knol, Hermine E. ; Conta, Jessie H. ; Fortuna, Ana Maria ; Gillessen-Kaesbach, Gabriele ; Dugan, Sarah ; Halbach, Sara ; Abdul-Rahman, Omar A. ; Winesett, Heather M. ; Chung, Wendy K. ; Dalton, Marguerite ; Dimova, Petia S. ; Mattina, Teresa ; Prescott, Katrina ; Zhang, Hui Z. ; Saal, Howard M. ; Hehir-Kwa, Jayne Y. ; Willemsen, Marjolein H. ; Ockeloen, Charlotte W. ; Jongmans, Marjolijn C. ; Van der Aa, Nathalie ; Failla, Pinella ; Barone, Concetta ; Avola, Emanuela ; Brooks, Alice S. ; Kant, Sarina G. ; Gerkes, Erica H. ; Firth, Helen V. ; Ounap, Katrin ; Bird, Lynne M. ; Masser-Frye, Diane ; Friedman, Jennifer R. ; Sokunbi, Modupe A. ; Dixit, Abhijit ; Splitt, Miranda ; Kukolich, Mary K. ; McGaughran, Julie ; Coe, Bradley P. ; Florez, Jesus ; Kasri, Nael Nadif ; Brunner, Han G. ; Thompson, Elizabeth M. ; Gecz, Jozef ; Romano, Corrado ; Eichler, Evan E. ; de Vries, Bert B. A. / The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant. In: European Journal of Human Genetics. 2016 ; Vol. 24, No. 5. pp. 652-659.

@article{bbd89351963c477e92d9a87e727de1bd,

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

author = "Koolen, {David A.} and Rolph Pfundt and Katrin Linda and Gea Beunders and Veenstra-Knol, {Hermine E.} and Conta, {Jessie H.} and Fortuna, {Ana Maria} and Gabriele Gillessen-Kaesbach and Sarah Dugan and Sara Halbach and Abdul-Rahman, {Omar A.} and Winesett, {Heather M.} and Chung, {Wendy K.} and Marguerite Dalton and Dimova, {Petia S.} and Teresa Mattina and Katrina Prescott and Zhang, {Hui Z.} and Saal, {Howard M.} and Hehir-Kwa, {Jayne Y.} and Willemsen, {Marjolein H.} and Ockeloen, {Charlotte W.} and Jongmans, {Marjolijn C.} and {Van der Aa}, Nathalie and Pinella Failla and Concetta Barone and Emanuela Avola and Brooks, {Alice S.} and Kant, {Sarina G.} and Gerkes, {Erica H.} and Firth, {Helen V.} and Katrin Ounap and Bird, {Lynne M.} and Diane Masser-Frye and Friedman, {Jennifer R.} and Sokunbi, {Modupe A.} and Abhijit Dixit and Miranda Splitt and Kukolich, {Mary K.} and Julie McGaughran and Coe, {Bradley P.} and Jesus Florez and Kasri, {Nael Nadif} and Brunner, {Han G.} and Thompson, {Elizabeth M.} and Jozef Gecz and Corrado Romano and Eichler, {Evan E.} and {de Vries}, {Bert B. A.}",

year = "2016",

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doi = "10.1038/ejhg.2015.178",

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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, AS, 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

The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant. / Koolen, David A.; Pfundt, Rolph; Linda, Katrin; Beunders, Gea; Veenstra-Knol, Hermine E.; Conta, Jessie H.; Fortuna, Ana Maria; Gillessen-Kaesbach, Gabriele; Dugan, Sarah; Halbach, Sara; Abdul-Rahman, Omar A.; Winesett, Heather M.; Chung, Wendy K.; Dalton, Marguerite; Dimova, Petia S.; Mattina, Teresa; Prescott, Katrina; Zhang, Hui Z.; Saal, Howard M.; Hehir-Kwa, Jayne Y.; Willemsen, Marjolein H.; Ockeloen, Charlotte W.; Jongmans, Marjolijn C.; Van der Aa, Nathalie; Failla, Pinella; Barone, Concetta; Avola, Emanuela; Brooks, Alice S.; Kant, Sarina G.; Gerkes, Erica H.; Firth, Helen V.; Ounap, Katrin; Bird, Lynne M.; Masser-Frye, Diane; Friedman, Jennifer R.; Sokunbi, Modupe A.; Dixit, Abhijit; Splitt, Miranda; Kukolich, Mary K.; McGaughran, Julie; Coe, Bradley P.; Florez, Jesus; Kasri, Nael Nadif; Brunner, Han G.; Thompson, Elizabeth M.; Gecz, Jozef; Romano, Corrado; Eichler, Evan E.; de Vries, Bert B. A.

In: European Journal of Human Genetics, Vol. 24, No. 5, 05.2016, p. 652-659.

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

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AU - Koolen, David A.

AU - Pfundt, Rolph

AU - Linda, Katrin

AU - Beunders, Gea

AU - Veenstra-Knol, Hermine E.

AU - Conta, Jessie H.

AU - Fortuna, Ana Maria

AU - Gillessen-Kaesbach, Gabriele

AU - Dugan, Sarah

AU - Halbach, Sara

AU - Abdul-Rahman, Omar A.

AU - Winesett, Heather M.

AU - Chung, Wendy K.

AU - Dalton, Marguerite

AU - Dimova, Petia S.

AU - Mattina, Teresa

AU - Prescott, Katrina

AU - Zhang, Hui Z.

AU - Saal, Howard M.

AU - Hehir-Kwa, Jayne Y.

AU - Willemsen, Marjolein H.

AU - Ockeloen, Charlotte W.

AU - Jongmans, Marjolijn C.

AU - Van der Aa, Nathalie

AU - Failla, Pinella

AU - Barone, Concetta

AU - Avola, Emanuela

AU - Brooks, Alice S.

AU - Kant, Sarina G.

AU - Gerkes, Erica H.

AU - Firth, Helen V.

AU - Ounap, Katrin

AU - Bird, Lynne M.

AU - Masser-Frye, Diane

AU - Friedman, Jennifer R.

AU - Sokunbi, Modupe A.

AU - Dixit, Abhijit

AU - Splitt, Miranda

AU - Kukolich, Mary K.

AU - McGaughran, Julie

AU - Coe, Bradley P.

AU - Florez, Jesus

AU - Kasri, Nael Nadif

AU - Brunner, Han G.

AU - Thompson, Elizabeth M.

AU - Gecz, Jozef

AU - Romano, Corrado

AU - Eichler, Evan E.

AU - de Vries, Bert B. A.

PY - 2016/5

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JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

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