Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome

Marjolein J.A. Weerts; Kristina Lanko; Francisco J. Guzmán-Vega; Adam Jackson; Reshmi Ramakrishnan; Kelly J. Cardona-Londoño; Karla A. Peña-Guerra; Bever Y van; Paassen BW van; Anneke Kievit; Slegtenhorst M van; Nicholas M. Allen; Caroline M. Kehoe; Hannah K. Robinson; Lewis Pang; Selina H. Banu; Mashaya Zaman; Stephanie Efthymiou; Henry Houlden; Irma Järvelä; Leena Lauronen; Tuomo Määttä; Isabelle Schrauwen; Suzanne M. Leal; Claudia A.L. Ruivenkamp; Daniela Q.C.M. Barge-Schaapveld; Cacha M.P.C.D. Peeters-Scholte; Hamid Galehdari; Neda Mazaheri; Sanjay M. Sisodiya; Victoria Harrison; Angela Sun; Jenny Thies; Luis Alberto Pedroza; Yana Lara-Taranchenko; Ivan K. Chinn; James R. Lupski; Alexandra Garza-Flores; Jeffery McGlothlin; Lin Yang; Shaoping Huang; Xiaodong Wang; Tamison Jewett; Gretchen Rosso; Xi Lin; Shehla Mohammed; J. Lawrence Merritt; Ghayda M. Mirzaa; Andrew E. Timms; J Scheck; MW Elting; AM Polstra; L Schenck; MRZ Ruzhnikov; A Vetro; M Montomoli; R Guerrini; DC Koboldt; TM Mosher; MT Pastore; KL McBride; J Peng; Z Pan; M Willemsen; S Koning; PD Turnpenny; Vries BBA de; C Gilissen; R Pfundt; M Lees; SR Braddock; KC Klemp; F Vansenne; Gijn ME van; C Quindipan; MA Deardorff; JA Hamm; AM Putnam; R Baud; L Walsh; SA Lynch; Julia Baptista; RE Person; KG Monaghan; null Cr

doi:10.1038/s41436-021-01246-2

Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome

Marjolein J.A. Weerts, Kristina Lanko, Francisco J. Guzmán-Vega, Adam Jackson, Reshmi Ramakrishnan, Kelly J. Cardona-Londoño, Karla A. Peña-Guerra, Bever Y van, Paassen BW van, Anneke Kievit, Slegtenhorst M van, Nicholas M. Allen, Caroline M. Kehoe, Hannah K. Robinson, Lewis Pang, Selina H. Banu, Mashaya Zaman, Stephanie Efthymiou, Henry Houlden, Irma JärveläLeena Lauronen, Tuomo Määttä, Isabelle Schrauwen, Suzanne M. Leal, Claudia A.L. Ruivenkamp, Daniela Q.C.M. Barge-Schaapveld, Cacha M.P.C.D. Peeters-Scholte, Hamid Galehdari, Neda Mazaheri, Sanjay M. Sisodiya, Victoria Harrison, Angela Sun, Jenny Thies, Luis Alberto Pedroza, Yana Lara-Taranchenko, Ivan K. Chinn, James R. Lupski, Alexandra Garza-Flores, Jeffery McGlothlin, Lin Yang, Shaoping Huang, Xiaodong Wang, Tamison Jewett, Gretchen Rosso, Xi Lin, Shehla Mohammed, J. Lawrence Merritt, Ghayda M. Mirzaa, Andrew E. Timms, J Scheck, MW Elting, AM Polstra, L Schenck, MRZ Ruzhnikov, A Vetro, M Montomoli, R Guerrini, DC Koboldt, TM Mosher, MT Pastore, KL McBride, J Peng, Z Pan, M Willemsen, S Koning, PD Turnpenny, Vries BBA de, C Gilissen, R Pfundt, M Lees, SR Braddock, KC Klemp, F Vansenne, Gijn ME van, C Quindipan, MA Deardorff, JA Hamm, AM Putnam, R Baud, L Walsh, SA Lynch, Julia Baptista, RE Person, KG Monaghan, Cr

Peninsula Medical School

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

Original language	English
Pages (from-to)	2122-2137
Number of pages	0
Journal	Genetics in Medicine
Volume	23
Issue number	11
DOIs	https://doi.org/10.1038/s41436-021-01246-2
Publication status	Published - Nov 2021

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10.1038/s41436-021-01246-2

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Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome
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Cite this

Weerts, M. J. A., Lanko, K., Guzmán-Vega, F. J., Jackson, A., Ramakrishnan, R., Cardona-Londoño, K. J., Peña-Guerra, K. A., van, B. Y., van, P. BW., Kievit, A., van, S. M., Allen, N. M., Kehoe, C. M., Robinson, H. K., Pang, L., Banu, S. H., Zaman, M., Efthymiou, S., Houlden, H., ... Cr (2021). Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome. Genetics in Medicine, 23(11), 2122-2137. https://doi.org/10.1038/s41436-021-01246-2

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year = "2021",

month = nov,

doi = "10.1038/s41436-021-01246-2",

language = "English",

volume = "23",

pages = "2122--2137",

journal = "Genetics in Medicine",

issn = "1098-3600",

publisher = "Elsevier B.V.",

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Weerts, MJA, Lanko, K, Guzmán-Vega, FJ, Jackson, A, Ramakrishnan, R, Cardona-Londoño, KJ, Peña-Guerra, KA, van, BY, van, PBW, Kievit, A, van, SM, Allen, NM, Kehoe, CM, Robinson, HK, Pang, L, Banu, SH, Zaman, M, Efthymiou, S, Houlden, H, Järvelä, I, Lauronen, L, Määttä, T, Schrauwen, I, Leal, SM, Ruivenkamp, CAL, Barge-Schaapveld, DQCM, Peeters-Scholte, CMPCD, Galehdari, H, Mazaheri, N, Sisodiya, SM, Harrison, V, Sun, A, Thies, J, Pedroza, LA, Lara-Taranchenko, Y, Chinn, IK, Lupski, JR, Garza-Flores, A, McGlothlin, J, Yang, L, Huang, S, Wang, X, Jewett, T, Rosso, G, Lin, X, Mohammed, S, Merritt, JL, Mirzaa, GM, Timms, AE, Scheck, J, Elting, MW, Polstra, AM, Schenck, L, Ruzhnikov, MRZ, Vetro, A, Montomoli, M, Guerrini, R, Koboldt, DC, Mosher, TM, Pastore, MT, McBride, KL, Peng, J, Pan, Z, Willemsen, M, Koning, S, Turnpenny, PD, de, VBBA, Gilissen, C, Pfundt, R, Lees, M, Braddock, SR, Klemp, KC, Vansenne, F, van, GME, Quindipan, C, Deardorff, MA, Hamm, JA, Putnam, AM, Baud, R, Walsh, L, Lynch, SA, Baptista, J, Person, RE, Monaghan, KG & Cr 2021, 'Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome', Genetics in Medicine, vol. 23, no. 11, pp. 2122-2137. https://doi.org/10.1038/s41436-021-01246-2

TY - JOUR

T1 - Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome

AU - Weerts, Marjolein J.A.

AU - Lanko, Kristina

AU - Guzmán-Vega, Francisco J.

AU - Jackson, Adam

AU - Ramakrishnan, Reshmi

AU - Cardona-Londoño, Kelly J.

AU - Peña-Guerra, Karla A.

AU - van, Bever Y

AU - van, Paassen BW

AU - Kievit, Anneke

AU - van, Slegtenhorst M

AU - Allen, Nicholas M.

AU - Kehoe, Caroline M.

AU - Robinson, Hannah K.

AU - Pang, Lewis

AU - Banu, Selina H.

AU - Zaman, Mashaya

AU - Efthymiou, Stephanie

AU - Houlden, Henry

AU - Järvelä, Irma

AU - Lauronen, Leena

AU - Määttä, Tuomo

AU - Schrauwen, Isabelle

AU - Leal, Suzanne M.

AU - Ruivenkamp, Claudia A.L.

AU - Barge-Schaapveld, Daniela Q.C.M.

AU - Peeters-Scholte, Cacha M.P.C.D.

AU - Galehdari, Hamid

AU - Mazaheri, Neda

AU - Sisodiya, Sanjay M.

AU - Harrison, Victoria

AU - Sun, Angela

AU - Thies, Jenny

AU - Pedroza, Luis Alberto

AU - Lara-Taranchenko, Yana

AU - Chinn, Ivan K.

AU - Lupski, James R.

AU - Garza-Flores, Alexandra

AU - McGlothlin, Jeffery

AU - Yang, Lin

AU - Huang, Shaoping

AU - Wang, Xiaodong

AU - Jewett, Tamison

AU - Rosso, Gretchen

AU - Lin, Xi

AU - Mohammed, Shehla

AU - Merritt, J. Lawrence

AU - Mirzaa, Ghayda M.

AU - Timms, Andrew E.

AU - Scheck, J

AU - Elting, MW

AU - Polstra, AM

AU - Schenck, L

AU - Ruzhnikov, MRZ

AU - Vetro, A

AU - Montomoli, M

AU - Guerrini, R

AU - Koboldt, DC

AU - Mosher, TM

AU - Pastore, MT

AU - McBride, KL

AU - Peng, J

AU - Pan, Z

AU - Willemsen, M

AU - Koning, S

AU - Turnpenny, PD

AU - de, Vries BBA

AU - Gilissen, C

AU - Pfundt, R

AU - Lees, M

AU - Braddock, SR

AU - Klemp, KC

AU - Vansenne, F

AU - van, Gijn ME

AU - Quindipan, C

AU - Deardorff, MA

AU - Hamm, JA

AU - Putnam, AM

AU - Baud, R

AU - Walsh, L

AU - Lynch, SA

AU - Baptista, Julia

AU - Person, RE

AU - Monaghan, KG

AU - Cr, null

PY - 2021/11

Y1 - 2021/11

U2 - 10.1038/s41436-021-01246-2

DO - 10.1038/s41436-021-01246-2

M3 - Article

SN - 1098-3600

VL - 23

SP - 2122

EP - 2137

JO - Genetics in Medicine

JF - Genetics in Medicine

IS - 11

ER -