Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders

Halie J. May; Jaehoon Jeong; Anya Revah-Politi; Julie S. Cohen; Anna Chassevent; Julia Baptista; Evan H. Baugh; Louise Bier; Armand Bottani; Carminho A. Rodrigues MR Te; Charles Conlon; Joel Fluss; Michel Guipponi; Chong Ae Kim; Naomichi Matsumoto; Richard Person; Michelle Primiano; Julia Rankin; Marwan Shinawi; Constance Smith-Hicks; Aida Telegrafi; Samantha Toy; Yuri Uchiyama; Vimla Aggarwal; David B. Goldstein; Katherine W. Roche; Kwame Anyane-Yeboa

doi:10.1038/s41436-021-01222-w

Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders

Halie J. May^*
, Jaehoon Jeong
, Anya Revah-Politi
, Julie S. Cohen
, Anna Chassevent
, Julia Baptista
, Evan H. Baugh
, Louise Bier
, Armand Bottani
, Carminho A. Rodrigues MR Te
, Charles Conlon
, Joel Fluss
, Michel Guipponi
, Chong Ae Kim
, Naomichi Matsumoto
, Richard Person
, Michelle Primiano
, Julia Rankin
, Marwan Shinawi
, Constance Smith-Hicks

Aida Telegrafi, Samantha Toy, Yuri Uchiyama, Vimla Aggarwal, David B. Goldstein, Katherine W. Roche, Kwame Anyane-Yeboa^*

^*Corresponding author for this work

Peninsula Medical School

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

Original language	English
Pages (from-to)	1912-1921
Number of pages	0
Journal	Genetics in Medicine
Volume	23
Issue number	10
DOIs	https://doi.org/10.1038/s41436-021-01222-w
Publication status	Published - Oct 2021

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May, H. J., Jeong, J., Revah-Politi, A., Cohen, J. S., Chassevent, A., Baptista, J., Baugh, E. H., Bier, L., Bottani, A., Te, C. A. R. MR., Conlon, C., Fluss, J., Guipponi, M., Kim, C. A., Matsumoto, N., Person, R., Primiano, M., Rankin, J., Shinawi, M., ... Anyane-Yeboa, K. (2021). Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders. Genetics in Medicine, 23(10), 1912-1921. https://doi.org/10.1038/s41436-021-01222-w

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title = "Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders",

author = "May, \{Halie J.\} and Jaehoon Jeong and Anya Revah-Politi and Cohen, \{Julie S.\} and Anna Chassevent and Julia Baptista and Baugh, \{Evan H.\} and Louise Bier and Armand Bottani and Te, \{Carminho A. Rodrigues MR\} and Charles Conlon and Joel Fluss and Michel Guipponi and Kim, \{Chong Ae\} and Naomichi Matsumoto and Richard Person and Michelle Primiano and Julia Rankin and Marwan Shinawi and Constance Smith-Hicks and Aida Telegrafi and Samantha Toy and Yuri Uchiyama and Vimla Aggarwal and Goldstein, \{David B.\} and Roche, \{Katherine W.\} and Kwame Anyane-Yeboa",

year = "2021",

month = oct,

doi = "10.1038/s41436-021-01222-w",

language = "English",

volume = "23",

pages = "1912--1921",

journal = "Genetics in Medicine",

issn = "1098-3600",

publisher = "Elsevier B.V.",

number = "10",

}

May, HJ, Jeong, J, Revah-Politi, A, Cohen, JS, Chassevent, A, Baptista, J, Baugh, EH, Bier, L, Bottani, A, Te, CARMR, Conlon, C, Fluss, J, Guipponi, M, Kim, CA, Matsumoto, N, Person, R, Primiano, M, Rankin, J, Shinawi, M, Smith-Hicks, C, Telegrafi, A, Toy, S, Uchiyama, Y, Aggarwal, V, Goldstein, DB, Roche, KW & Anyane-Yeboa, K 2021, 'Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders', Genetics in Medicine, vol. 23, no. 10, pp. 1912-1921. https://doi.org/10.1038/s41436-021-01222-w

TY - JOUR

T1 - Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders

AU - May, Halie J.

AU - Jeong, Jaehoon

AU - Revah-Politi, Anya

AU - Cohen, Julie S.

AU - Chassevent, Anna

AU - Baptista, Julia

AU - Baugh, Evan H.

AU - Bier, Louise

AU - Bottani, Armand

AU - Te, Carminho A. Rodrigues MR

AU - Conlon, Charles

AU - Fluss, Joel

AU - Guipponi, Michel

AU - Kim, Chong Ae

AU - Matsumoto, Naomichi

AU - Person, Richard

AU - Primiano, Michelle

AU - Rankin, Julia

AU - Shinawi, Marwan

AU - Smith-Hicks, Constance

AU - Telegrafi, Aida

AU - Toy, Samantha

AU - Uchiyama, Yuri

AU - Aggarwal, Vimla

AU - Goldstein, David B.

AU - Roche, Katherine W.

AU - Anyane-Yeboa, Kwame

PY - 2021/10

Y1 - 2021/10

UR - https://pearl.plymouth.ac.uk/pms-research/1695/

U2 - 10.1038/s41436-021-01222-w

DO - 10.1038/s41436-021-01222-w

M3 - Article

SN - 1098-3600

VL - 23

SP - 1912

EP - 1921

JO - Genetics in Medicine

JF - Genetics in Medicine

IS - 10

ER -

Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders

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