The spectrum of heart defects in the TRAF7-related multiple congenital anomalies-intellectual disability syndrome.

Elise Pisan; Chiara De Luca; Francesco Brancati; Rossana Sanchez Russo; Dong Li; Elizabeth Bhoj; Tara Wenger; Ashish Marwaha; Nicole Johnson; Claire Beneteau; Elise Brischoux-Boucher; Gunnar Houge; Julie Paulsen; Trine Bjørg Hammer; Jakob Ek; Daniela Schweitzer; Bianca E Russell; Marina Dutra-Clarke; Stanley Nelson; Emilie D Douine; Rosario I Corona; Tracy Dudding; Hannah Thomson; Karen Low; Newell Belnap; Maria Iascone; Manuela Priolo; Diana Carli; Alessandro Mussa; Emilia K Bijlsma; Nathan Kopp; Jean-Philippe Jais; Jeanne Amiel; Christopher T Gordon

doi:10.1073/pnas.2317601121

The spectrum of heart defects in the TRAF7-related multiple congenital anomalies-intellectual disability syndrome.

Elise Pisan, Chiara De Luca, Francesco Brancati, Rossana Sanchez Russo, Dong Li, Elizabeth Bhoj, Tara Wenger, Ashish Marwaha, Nicole Johnson, Claire Beneteau, Elise Brischoux-Boucher, Gunnar Houge, Julie Paulsen, Trine Bjørg Hammer, Jakob Ek, Daniela Schweitzer, Bianca E Russell, Marina Dutra-Clarke, Stanley Nelson, Emilie D DouineRosario I Corona, Tracy Dudding, Hannah Thomson, Karen Low, Newell Belnap, Maria Iascone, Manuela Priolo, Diana Carli, Alessandro Mussa, Emilia K Bijlsma, Nathan Kopp, Jean-Philippe Jais, Jeanne Amiel^*, Christopher T Gordon^*

^*Corresponding author for this work

Research output: Contribution to journal › Letter (Academic Journal) › peer-review

1 Citation (Scopus)

Original language	English
Article number	e2317601121
Number of pages	4
Journal	Proceedings of the National Academy of Sciences of the United States of America
Volume	121
Issue number	12
Early online date	11 Mar 2024
DOIs	https://doi.org/10.1073/pnas.2317601121
Publication status	Published - 19 Mar 2024

Bibliographical note

Publisher Copyright:
Copyright © 2024 the Author(s).

Keywords

Humans
Intellectual Disability/genetics
Abnormalities, Multiple/genetics
Heart Defects, Congenital
Phenotype
Tumor Necrosis Factor Receptor-Associated Peptides and Proteins

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10.1073/pnas.2317601121Licence: CC BY-NC-ND

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Cite this

Pisan, E., De Luca, C., Brancati, F., Sanchez Russo, R., Li, D., Bhoj, E., Wenger, T., Marwaha, A., Johnson, N., Beneteau, C., Brischoux-Boucher, E., Houge, G., Paulsen, J., Hammer, T. B., Ek, J., Schweitzer, D., Russell, B. E., Dutra-Clarke, M., Nelson, S., ... Gordon, C. T. (2024). The spectrum of heart defects in the TRAF7-related multiple congenital anomalies-intellectual disability syndrome. Proceedings of the National Academy of Sciences of the United States of America, 121(12), Article e2317601121. https://doi.org/10.1073/pnas.2317601121

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title = "The spectrum of heart defects in the TRAF7-related multiple congenital anomalies-intellectual disability syndrome.",

keywords = "Humans, Intellectual Disability/genetics, Abnormalities, Multiple/genetics, Heart Defects, Congenital, Phenotype, Tumor Necrosis Factor Receptor-Associated Peptides and Proteins",

author = "Elise Pisan and {De Luca}, Chiara and Francesco Brancati and {Sanchez Russo}, Rossana and Dong Li and Elizabeth Bhoj and Tara Wenger and Ashish Marwaha and Nicole Johnson and Claire Beneteau and Elise Brischoux-Boucher and Gunnar Houge and Julie Paulsen and Hammer, {Trine Bj{\o}rg} and Jakob Ek and Daniela Schweitzer and Russell, {Bianca E} and Marina Dutra-Clarke and Stanley Nelson and Douine, {Emilie D} and Corona, {Rosario I} and Tracy Dudding and Hannah Thomson and Karen Low and Newell Belnap and Maria Iascone and Manuela Priolo and Diana Carli and Alessandro Mussa and Bijlsma, {Emilia K} and Nathan Kopp and Jean-Philippe Jais and Jeanne Amiel and Gordon, {Christopher T}",

note = "Publisher Copyright: Copyright {\textcopyright} 2024 the Author(s).",

year = "2024",

month = mar,

day = "19",

doi = "10.1073/pnas.2317601121",

language = "English",

volume = "121",

journal = "Proceedings of the National Academy of Sciences of the United States of America",

issn = "0027-8424",

publisher = "National Academy of Sciences",

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Pisan, E, De Luca, C, Brancati, F, Sanchez Russo, R, Li, D, Bhoj, E, Wenger, T, Marwaha, A, Johnson, N, Beneteau, C, Brischoux-Boucher, E, Houge, G, Paulsen, J, Hammer, TB, Ek, J, Schweitzer, D, Russell, BE, Dutra-Clarke, M, Nelson, S, Douine, ED, Corona, RI, Dudding, T, Thomson, H, Low, K, Belnap, N, Iascone, M, Priolo, M, Carli, D, Mussa, A, Bijlsma, EK, Kopp, N, Jais, J-P, Amiel, J & Gordon, CT 2024, 'The spectrum of heart defects in the TRAF7-related multiple congenital anomalies-intellectual disability syndrome.', Proceedings of the National Academy of Sciences of the United States of America, vol. 121, no. 12, e2317601121. https://doi.org/10.1073/pnas.2317601121

The spectrum of heart defects in the TRAF7-related multiple congenital anomalies-intellectual disability syndrome. / Pisan, Elise; De Luca, Chiara; Brancati, Francesco et al.
In: Proceedings of the National Academy of Sciences of the United States of America, Vol. 121, No. 12, e2317601121, 19.03.2024.

Research output: Contribution to journal › Letter (Academic Journal) › peer-review

TY - JOUR

T1 - The spectrum of heart defects in the TRAF7-related multiple congenital anomalies-intellectual disability syndrome.

AU - Pisan, Elise

AU - De Luca, Chiara

AU - Brancati, Francesco

AU - Sanchez Russo, Rossana

AU - Li, Dong

AU - Bhoj, Elizabeth

AU - Wenger, Tara

AU - Marwaha, Ashish

AU - Johnson, Nicole

AU - Beneteau, Claire

AU - Brischoux-Boucher, Elise

AU - Houge, Gunnar

AU - Paulsen, Julie

AU - Hammer, Trine Bjørg

AU - Ek, Jakob

AU - Schweitzer, Daniela

AU - Russell, Bianca E

AU - Dutra-Clarke, Marina

AU - Nelson, Stanley

AU - Douine, Emilie D

AU - Corona, Rosario I

AU - Dudding, Tracy

AU - Thomson, Hannah

AU - Low, Karen

AU - Belnap, Newell

AU - Iascone, Maria

AU - Priolo, Manuela

AU - Carli, Diana

AU - Mussa, Alessandro

AU - Bijlsma, Emilia K

AU - Kopp, Nathan

AU - Jais, Jean-Philippe

AU - Amiel, Jeanne

AU - Gordon, Christopher T

PY - 2024/3/19

Y1 - 2024/3/19

KW - Humans

KW - Intellectual Disability/genetics

KW - Abnormalities, Multiple/genetics

KW - Heart Defects, Congenital

KW - Phenotype

KW - Tumor Necrosis Factor Receptor-Associated Peptides and Proteins

U2 - 10.1073/pnas.2317601121

DO - 10.1073/pnas.2317601121

M3 - Letter (Academic Journal)

C2 - 38466850

SN - 0027-8424

VL - 121

JO - Proceedings of the National Academy of Sciences of the United States of America

JF - Proceedings of the National Academy of Sciences of the United States of America

IS - 12

M1 - e2317601121

ER -