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; 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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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

@article{64ee632ac3a64aec8ec50865c0cc5d16,

title = "Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome",

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

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.",

number = "11",

}

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

UR - https://pearl.plymouth.ac.uk/pms-research/1713/

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 -

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

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

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