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 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

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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