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, Yolande van Bever, Barbara W. van Paassen, Anneke Kievit, Marjon van Slegtenhorst, 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, Joshua Scheck, Mariet W. Elting, Abeltje M. Polstra, Lauren Schenck, Maura R.Z. Ruzhnikov, Annalisa Vetro, Martino Montomoli, Renzo Guerrini, Daniel C. Koboldt, Theresa Mihalic Mosher, Matthew T. Pastore, Kim L. McBride, Jing Peng, Zou Pan, Marjolein Willemsen, Susanne Koning, Peter D. Turnpenny, Bert B.A. de Vries, Christian Gilissen, Rolph Pfundt, Melissa Lees, Stephen R. Braddock, Kara C. Klemp, Fleur Vansenne, Marielle E. van Gijn, Catherine Quindipan, Matthew A. Deardorff, J. Austin Hamm, Abbey M. Putnam, Rebecca Baud, Laurence Walsh, Sally A. Lynch, Julia Baptista, Richard E. Person, Kristin G. Monaghan, Amy Crunk, Jennifer Keller-Ramey, Adi Reich, Houda Zghal Elloumi, Marielle Alders, Jennifer Kerkhof, Haley McConkey, Sadegheh Haghshenas, Reza Maroofian, Bekim Sadikovic, Siddharth Banka, Stefan T. Arold, Tahsin Stefan Barakat

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DOI: 10.1038/s41436-021-01246-2
Published: 2021-11
Container: Genetics in Medicine
Publisher: Elsevier BV
Open access: unknown

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BibTeX

@article{allodium:10.1038/s41436-021-01246-2,
title = {Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome},
author = {Marjolein J.A. Weerts and Kristina Lanko and Francisco J. Guzmán-Vega and Adam Jackson and Reshmi Ramakrishnan and Kelly J. Cardona-Londoño and Karla A. Peña-Guerra and Yolande van Bever and Barbara W. van Paassen and Anneke Kievit and Marjon van Slegtenhorst and Nicholas M. Allen and Caroline M. Kehoe and Hannah K. Robinson and Lewis Pang and Selina H. Banu and Mashaya Zaman and Stephanie Efthymiou and Henry Houlden and Irma Järvelä and Leena Lauronen and Tuomo Määttä and Isabelle Schrauwen and Suzanne M. Leal and Claudia A.L. Ruivenkamp and Daniela Q.C.M. Barge-Schaapveld and Cacha M.P.C.D. Peeters-Scholte and Hamid Galehdari and Neda Mazaheri and Sanjay M. Sisodiya and Victoria Harrison and Angela Sun and Jenny Thies and Luis Alberto Pedroza and Yana Lara-Taranchenko and Ivan K. Chinn and James R. Lupski 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 J. Lawrence Merritt and Ghayda M. Mirzaa and Andrew E. Timms and Joshua Scheck and Mariet W. Elting and Abeltje M. Polstra and Lauren Schenck and Maura R.Z. Ruzhnikov and Annalisa Vetro and Martino Montomoli and Renzo Guerrini and Daniel C. Koboldt and Theresa Mihalic Mosher and Matthew T. Pastore and Kim L. McBride and Jing Peng and Zou Pan and Marjolein Willemsen and Susanne Koning and Peter D. Turnpenny and Bert B.A. de Vries and Christian Gilissen and Rolph Pfundt and Melissa Lees and Stephen R. Braddock and Kara C. Klemp and Fleur Vansenne and Marielle E. van Gijn and Catherine Quindipan and Matthew A. Deardorff and J. Austin Hamm and Abbey M. Putnam and Rebecca Baud and Laurence Walsh and Sally A. Lynch and Julia Baptista and Richard E. Person and Kristin G. Monaghan and Amy Crunk and Jennifer Keller-Ramey and Adi Reich and Houda Zghal Elloumi and Marielle Alders and Jennifer Kerkhof and Haley McConkey and Sadegheh Haghshenas and Reza Maroofian and Bekim Sadikovic and Siddharth Banka and Stefan T. Arold and Tahsin Stefan Barakat},
year = {2021},
journal = {Genetics in Medicine},
doi = {10.1038/s41436-021-01246-2},
url = {https://doi.org/10.1038/s41436-021-01246-2}
}

RIS

TY  - JOUR
TI  - Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome
AU  - Marjolein J.A. Weerts
AU  - Kristina Lanko
AU  - Francisco J. Guzmán-Vega
AU  - Adam Jackson
AU  - Reshmi Ramakrishnan
AU  - Kelly J. Cardona-Londoño
AU  - Karla A. Peña-Guerra
AU  - Yolande van Bever
AU  - Barbara W. van Paassen
AU  - Anneke Kievit
AU  - Marjon van Slegtenhorst
AU  - Nicholas M. Allen
AU  - Caroline M. Kehoe
AU  - Hannah K. Robinson
AU  - Lewis Pang
AU  - Selina H. Banu
AU  - Mashaya Zaman
AU  - Stephanie Efthymiou
AU  - Henry Houlden
AU  - Irma Järvelä
AU  - Leena Lauronen
AU  - Tuomo Määttä
AU  - Isabelle Schrauwen
AU  - Suzanne M. Leal
AU  - Claudia A.L. Ruivenkamp
AU  - Daniela Q.C.M. Barge-Schaapveld
AU  - Cacha M.P.C.D. Peeters-Scholte
AU  - Hamid Galehdari
AU  - Neda Mazaheri
AU  - Sanjay M. Sisodiya
AU  - Victoria Harrison
AU  - Angela Sun
AU  - Jenny Thies
AU  - Luis Alberto Pedroza
AU  - Yana Lara-Taranchenko
AU  - Ivan K. Chinn
AU  - James R. Lupski
AU  - Alexandra Garza-Flores
AU  - Jeffery McGlothlin
AU  - Lin Yang
AU  - Shaoping Huang
AU  - Xiaodong Wang
AU  - Tamison Jewett
AU  - Gretchen Rosso
AU  - Xi Lin
AU  - Shehla Mohammed
AU  - J. Lawrence Merritt
AU  - Ghayda M. Mirzaa
AU  - Andrew E. Timms
AU  - Joshua Scheck
AU  - Mariet W. Elting
AU  - Abeltje M. Polstra
AU  - Lauren Schenck
AU  - Maura R.Z. Ruzhnikov
AU  - Annalisa Vetro
AU  - Martino Montomoli
AU  - Renzo Guerrini
AU  - Daniel C. Koboldt
AU  - Theresa Mihalic Mosher
AU  - Matthew T. Pastore
AU  - Kim L. McBride
AU  - Jing Peng
AU  - Zou Pan
AU  - Marjolein Willemsen
AU  - Susanne Koning
AU  - Peter D. Turnpenny
AU  - Bert B.A. de Vries
AU  - Christian Gilissen
AU  - Rolph Pfundt
AU  - Melissa Lees
AU  - Stephen R. Braddock
AU  - Kara C. Klemp
AU  - Fleur Vansenne
AU  - Marielle E. van Gijn
AU  - Catherine Quindipan
AU  - Matthew A. Deardorff
AU  - J. Austin Hamm
AU  - Abbey M. Putnam
AU  - Rebecca Baud
AU  - Laurence Walsh
AU  - Sally A. Lynch
AU  - Julia Baptista
AU  - Richard E. Person
AU  - Kristin G. Monaghan
AU  - Amy Crunk
AU  - Jennifer Keller-Ramey
AU  - Adi Reich
AU  - Houda Zghal Elloumi
AU  - Marielle Alders
AU  - Jennifer Kerkhof
AU  - Haley McConkey
AU  - Sadegheh Haghshenas
AU  - Reza Maroofian
AU  - Bekim Sadikovic
AU  - Siddharth Banka
AU  - Stefan T. Arold
AU  - Tahsin Stefan Barakat
PY  - 2021
JO  - Genetics in Medicine
DO  - 10.1038/s41436-021-01246-2
UR  - https://doi.org/10.1038/s41436-021-01246-2
ER  -

APA

Weerts, M. J., Lanko, K., Guzmán-Vega, F. J., Jackson, A., Ramakrishnan, R., Cardona-Londoño, K. J., Peña-Guerra, K. A., Bever, Y. V., Paassen, B. W. V., Kievit, A., Slegtenhorst, M. V., Allen, N. M., Kehoe, C. M., Robinson, H. K., Pang, L., Banu, S. H., Zaman, M., Efthymiou, S., Houlden, H., Järvelä, I., Lauronen, L., Määttä, T., Schrauwen, I., Leal, S. M., Ruivenkamp, C. A., Barge-Schaapveld, D. Q., Peeters-Scholte, C. M., 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. W., Polstra, A. M., Schenck, L., Ruzhnikov, M. R., Vetro, A., Montomoli, M., Guerrini, R., Koboldt, D. C., Mosher, T. M., Pastore, M. T., McBride, K. L., Peng, J., Pan, Z., Willemsen, M., Koning, S., Turnpenny, P. D., Vries, B. B. D., Gilissen, C., Pfundt, R., Lees, M., Braddock, S. R., Klemp, K. C., Vansenne, F., Gijn, M. E. V., Quindipan, C., Deardorff, M. A., Hamm, J. A., Putnam, A. M., Baud, R., Walsh, L., Lynch, S. A., Baptista, J., Person, R. E., Monaghan, K. G., Crunk, A., Keller-Ramey, J., Reich, A., Elloumi, H. Z., Alders, M., Kerkhof, J., McConkey, H., Haghshenas, S., Maroofian, R., Sadikovic, B., Banka, S., Arold, S. T., & Barakat, T. S. (2021). Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome. Genetics in Medicine. https://doi.org/10.1038/s41436-021-01246-2

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