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-HicksAida 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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Cite this

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",

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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

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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

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

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