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

MJA Weerts; K Lanko; FJ Guzmán-Vega; A Jackson; R Ramakrishnan; KJ Cardona-Londoño; KA Peña-Guerra; Bever Y van; Paassen BW van; A Kievit; Slegtenhorst M van; NM Allen; CM Kehoe; HK Robinson; L Pang; SH Banu; M Zaman; S Efthymiou; H Houlden; I Järvelä; L Lauronen; T Määttä; I Schrauwen; SM Leal; CAL Ruivenkamp; DQCM Barge-Schaapveld; CMPCD Peeters-Scholte; H Galehdari; N Mazaheri; SM Sisodiya; V Harrison; A Sun; J Thies; LA Pedroza; Y Lara-Taranchenko; IK Chinn; JR Lupski; A Garza-Flores; J McGlothlin; L Yang; S Huang; X Wang; T Jewett; G Rosso; X Lin; S Mohammed; JL Merritt; GM Mirzaa; AE Timms; J Scheck; M 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 M van; C Quindipan; MA Deardorff; Hamm J Austin; AM Putnam; R Baud; L Walsh; SA Lynch; J Baptista; RE Person; KG Monaghan

doi:10.1101/2021.02.11.430742

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

MJA Weerts, K Lanko, FJ Guzmán-Vega, A Jackson, R Ramakrishnan, KJ Cardona-Londoño, KA Peña-Guerra, Bever Y van, Paassen BW van, A Kievit, Slegtenhorst M van, NM Allen, CM Kehoe, HK Robinson, L Pang, SH Banu, M Zaman, S Efthymiou, H Houlden, I JärveläL Lauronen, T Määttä, I Schrauwen, SM Leal, CAL Ruivenkamp, DQCM Barge-Schaapveld, CMPCD Peeters-Scholte, H Galehdari, N Mazaheri, SM Sisodiya, V Harrison, A Sun, J Thies, LA Pedroza, Y Lara-Taranchenko, IK Chinn, JR Lupski, A Garza-Flores, J McGlothlin, L Yang, S Huang, X Wang, T Jewett, G Rosso, X Lin, S Mohammed, JL Merritt, GM Mirzaa, AE Timms, J Scheck, M 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 M van, C Quindipan, MA Deardorff, Hamm J Austin, AM Putnam, R Baud, L Walsh, SA Lynch, J Baptista, RE Person, KG Monaghan

Peninsula Medical School

Research output: Working paper / Preprint › Preprint

Original language	English
Number of pages	0
DOIs	https://doi.org/10.1101/2021.02.11.430742
Publication status	Published - 15 Feb 2021

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10.1101/2021.02.11.430742

1 Article

Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome
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. B., 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. & Järvelä, I. & 65 others, Lauronen, L., Määttä, T., Schrauwen, I., Leal, S. M., Ruivenkamp, C. A. L., Barge-Schaapveld, D. Q. C. M., Peeters-Scholte, C. M. P. C. D., Galehdari, H., Mazaheri, N., Sisodiya, S. M., Harrison, V., Sun, A., Thies, J., Pedroza, L. A., Lara-Taranchenko, Y., Chinn, I. K., Lupski, J. R., Garza-Flores, A., McGlothlin, J., Yang, L., Huang, S., Wang, X., Jewett, T., Rosso, G., Lin, X., Mohammed, S., Merritt, J. L., Mirzaa, G. M., Timms, A. E., Scheck, J., Elting, M., Polstra, A., Schenck, L., Ruzhnikov, M., Vetro, A., Montomoli, M., Guerrini, R., Koboldt, D., Mosher, T., Pastore, M., McBride, K., Peng, J., Pan, Z., Willemsen, M., Koning, S., Turnpenny, P., de, V. B., Gilissen, C., Pfundt, R., Lees, M., Braddock, S., Klemp, K., Vansenne, F., van, G. M., Quindipan, C., Deardorff, M., Hamm, J., Putnam, A., Baud, R., Walsh, L., Lynch, S., Baptista, J., Person, R., Monaghan, K. & Cr, Nov 2021, In: Genetics in Medicine. 23, 11, p. 2122-2137
Research output: Contribution to journal › Article › peer-review

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Weerts, MJA., Lanko, K., Guzmán-Vega, FJ., Jackson, A., Ramakrishnan, R., Cardona-Londoño, KJ., Peña-Guerra, KA., van, B. Y., van, P. BW., Kievit, A., van, S. M., Allen, NM., Kehoe, CM., Robinson, HK., Pang, L., Banu, SH., Zaman, M., Efthymiou, S., Houlden, H., ... Monaghan, KG. (2021). Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome. https://doi.org/10.1101/2021.02.11.430742

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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, M, 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, GM, Quindipan, C, Deardorff, MA, Austin, HJ, Putnam, AM, Baud, R, Walsh, L, Lynch, SA, Baptista, J, Person, RE & Monaghan, KG 2021 'Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome'. https://doi.org/10.1101/2021.02.11.430742

TY - UNPB

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

AU - Weerts, MJA

AU - Lanko, K

AU - Guzmán-Vega, FJ

AU - Jackson, A

AU - Ramakrishnan, R

AU - Cardona-Londoño, KJ

AU - Peña-Guerra, KA

AU - van, Bever Y

AU - van, Paassen BW

AU - Kievit, A

AU - van, Slegtenhorst M

AU - Allen, NM

AU - Kehoe, CM

AU - Robinson, HK

AU - Pang, L

AU - Banu, SH

AU - Zaman, M

AU - Efthymiou, S

AU - Houlden, H

AU - Järvelä, I

AU - Lauronen, L

AU - Määttä, T

AU - Schrauwen, I

AU - Leal, SM

AU - Ruivenkamp, CAL

AU - Barge-Schaapveld, DQCM

AU - Peeters-Scholte, CMPCD

AU - Galehdari, H

AU - Mazaheri, N

AU - Sisodiya, SM

AU - Harrison, V

AU - Sun, A

AU - Thies, J

AU - Pedroza, LA

AU - Lara-Taranchenko, Y

AU - Chinn, IK

AU - Lupski, JR

AU - Garza-Flores, A

AU - McGlothlin, J

AU - Yang, L

AU - Huang, S

AU - Wang, X

AU - Jewett, T

AU - Rosso, G

AU - Lin, X

AU - Mohammed, S

AU - Merritt, JL

AU - Mirzaa, GM

AU - Timms, AE

AU - Scheck, J

AU - Elting, M

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 M

AU - Quindipan, C

AU - Deardorff, MA

AU - Austin, Hamm J

AU - Putnam, AM

AU - Baud, R

AU - Walsh, L

AU - Lynch, SA

AU - Baptista, J

AU - Person, RE

AU - Monaghan, KG

PY - 2021/2/15

Y1 - 2021/2/15

U2 - 10.1101/2021.02.11.430742

DO - 10.1101/2021.02.11.430742

M3 - Preprint

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

ER -