Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays

Mythily Ganapathi; Leticia S. Matsuoka; Michael March; Dong Li; Elly Brokamp; Sara Benito-Sanz; Susan M. White; Katherine Lachlan; Priyanka Ahimaz; Anshuman Sewda; Lisa Bastarache; Amanda Thomas-Wilson; Joan M. Stoler; Nuria C. Bramswig; Julia Baptista; Karen Stals; Florence Demurger; Benjamin Cogne; Bertrand Isidor; Maria Francesca Bedeschi; Angela Peron; Jeanne Amiel; Elaine Zackai; John P. Schacht; Alejandro D. Iglesias; Jenny Morton; Ariane Schmetz; JD Cogan; Verónica Seidel; Stephanie Lucia; Stephanie M. Baskin; Isabelle Thiffault; JD Cogan; Christopher T. Gordon; Wendy K. Chung; Sarah Bowdin; Elizabeth Bhoj

doi:10.1038/s41431-023-01434-5

Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays

Mythily Ganapathi
, Leticia S. Matsuoka
, Michael March
, Dong Li
, Elly Brokamp
, Sara Benito-Sanz
, Susan M. White
, Katherine Lachlan
, Priyanka Ahimaz
, Anshuman Sewda
, Lisa Bastarache
, Amanda Thomas-Wilson
, Joan M. Stoler
, Nuria C. Bramswig
, Julia Baptista
, Karen Stals
, Florence Demurger
, Benjamin Cogne
, Bertrand Isidor
, Maria Francesca Bedeschi

Angela Peron, Jeanne Amiel, Elaine Zackai, John P. Schacht, Alejandro D. Iglesias, Jenny Morton, Ariane Schmetz, JD Cogan, Verónica Seidel, Stephanie Lucia, Stephanie M. Baskin, Isabelle Thiffault, JD Cogan, Christopher T. Gordon, Wendy K. Chung, Sarah Bowdin, Elizabeth Bhoj^*

^*Corresponding author for this work

Peninsula Medical School

Columbia University
University of Pennsylvania
Vanderbilt University
Universidad Autónoma de Madrid
Murdoch Children's Research Institute
University of Melbourne
University Hospital Southampton NHS Foundation Trust
University of Southampton
Harvard University
Heinrich Heine University Düsseldorf
Royal Devon & Exeter NHS Foundation Trust
Service de Génétique CH Bretagne Atlantique-Vannes
Université de Nantes
University of Nantes
IRCCS Fondazione Ca'Granda – Ospedale Maggiore Policlinico - Milano
University of Milan
University of Utah
Université Paris Cité
Birmingham Women's and Children's NHS Foundation Trust
Hospital General Universitario Gregorio Marañon
Baylor College of Medicine
Children's Mercy Hospitals and Clinics
Cambridge University Hospitals NHS Foundation Trust

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

Original language	English
Pages (from-to)	1117-1124
Number of pages	0
Journal	European Journal of Human Genetics
Volume	31
Issue number	10
Early online date	27 Jul 2023
DOIs	https://doi.org/10.1038/s41431-023-01434-5
Publication status	Published - Oct 2023

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being

Access to Document

10.1038/s41431-023-01434-5

Cite this

Ganapathi, M., Matsuoka, L. S., March, M., Li, D., Brokamp, E., Benito-Sanz, S., White, S. M., Lachlan, K., Ahimaz, P., Sewda, A., Bastarache, L., Thomas-Wilson, A., Stoler, J. M., Bramswig, N. C., Baptista, J., Stals, K., Demurger, F., Cogne, B., Isidor, B., ... Bhoj, E. (2023). Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays. European Journal of Human Genetics, 31(10), 1117-1124. https://doi.org/10.1038/s41431-023-01434-5

@article{78f0cf25fe6643548a0263bb00d90a9c,

title = "Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays",

author = "Mythily Ganapathi and Matsuoka, \{Leticia S.\} and Michael March and Dong Li and Elly Brokamp and Sara Benito-Sanz and White, \{Susan M.\} and Katherine Lachlan and Priyanka Ahimaz and Anshuman Sewda and Lisa Bastarache and Amanda Thomas-Wilson and Stoler, \{Joan M.\} and Bramswig, \{Nuria C.\} and Julia Baptista and Karen Stals and Florence Demurger and Benjamin Cogne and Bertrand Isidor and Bedeschi, \{Maria Francesca\} and Angela Peron and Jeanne Amiel and Elaine Zackai and Schacht, \{John P.\} and Iglesias, \{Alejandro D.\} and Jenny Morton and Ariane Schmetz and JD Cogan and Ver{\'o}nica Seidel and Stephanie Lucia and Baskin, \{Stephanie M.\} and Isabelle Thiffault and JD Cogan and Gordon, \{Christopher T.\} and Chung, \{Wendy K.\} and Sarah Bowdin and Elizabeth Bhoj",

year = "2023",

month = oct,

doi = "10.1038/s41431-023-01434-5",

language = "English",

volume = "31",

pages = "1117--1124",

journal = "European Journal of Human Genetics",

issn = "1018-4813",

publisher = "Springer Nature",

number = "10",

}

Ganapathi, M, Matsuoka, LS, March, M, Li, D, Brokamp, E, Benito-Sanz, S, White, SM, Lachlan, K, Ahimaz, P, Sewda, A, Bastarache, L, Thomas-Wilson, A, Stoler, JM, Bramswig, NC, Baptista, J, Stals, K, Demurger, F, Cogne, B, Isidor, B, Bedeschi, MF, Peron, A, Amiel, J, Zackai, E, Schacht, JP, Iglesias, AD, Morton, J, Schmetz, A, Cogan, JD, Seidel, V, Lucia, S, Baskin, SM, Thiffault, I, Cogan, JD, Gordon, CT, Chung, WK, Bowdin, S & Bhoj, E 2023, 'Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays', European Journal of Human Genetics, vol. 31, no. 10, pp. 1117-1124. https://doi.org/10.1038/s41431-023-01434-5

TY - JOUR

T1 - Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays

AU - Ganapathi, Mythily

AU - Matsuoka, Leticia S.

AU - March, Michael

AU - Li, Dong

AU - Brokamp, Elly

AU - Benito-Sanz, Sara

AU - White, Susan M.

AU - Lachlan, Katherine

AU - Ahimaz, Priyanka

AU - Sewda, Anshuman

AU - Bastarache, Lisa

AU - Thomas-Wilson, Amanda

AU - Stoler, Joan M.

AU - Bramswig, Nuria C.

AU - Baptista, Julia

AU - Stals, Karen

AU - Demurger, Florence

AU - Cogne, Benjamin

AU - Isidor, Bertrand

AU - Bedeschi, Maria Francesca

AU - Peron, Angela

AU - Amiel, Jeanne

AU - Zackai, Elaine

AU - Schacht, John P.

AU - Iglesias, Alejandro D.

AU - Morton, Jenny

AU - Schmetz, Ariane

AU - Cogan, JD

AU - Seidel, Verónica

AU - Lucia, Stephanie

AU - Baskin, Stephanie M.

AU - Thiffault, Isabelle

AU - Cogan, JD

AU - Gordon, Christopher T.

AU - Chung, Wendy K.

AU - Bowdin, Sarah

AU - Bhoj, Elizabeth

PY - 2023/10

Y1 - 2023/10

U2 - 10.1038/s41431-023-01434-5

DO - 10.1038/s41431-023-01434-5

M3 - Article

SN - 1018-4813

VL - 31

SP - 1117

EP - 1124

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

IS - 10

ER -