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 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^*

^*Corresponding author af dette arbejde

Filadelfia

Publikation: Bidrag til tidsskrift › Letter › Forskning › peer review

Originalsprog	Engelsk
Artikelnummer	e2317601121
Tidsskrift	Proceedings of the National Academy of Sciences of the United States of America
Vol/bind	121
Udgave nummer	12
DOI	https://doi.org/10.1073/pnas.2317601121
Status	Udgivet - 19 mar. 2024

Adgang til dokumentet

10.1073/pnas.2317601121

Citationsformater

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), Artikel e2317601121. https://doi.org/10.1073/pnas.2317601121

@article{6456e9e761c74003be89a45397e93936,

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\}",

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",

number = "12",

}

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, bind 121, nr. 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.
I: Proceedings of the National Academy of Sciences of the United States of America, Bind 121, Nr. 12, e2317601121, 19.03.2024.

Publikation: Bidrag til tidsskrift › Letter › Forskning › 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

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 -