De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome

Francesco Vetrini; Shane McKee; Jill A. Rosenfeld; Mohnish Suri; Andrea M. Lewis; Kimberly Margaret Nugent; Elizabeth Roeder; Rebecca O. Littlejohn; Sue Holder; Wenmiao Zhu; Joseph T. Alaimo; Brett Graham; Jill M. Harris; James B. Gibson; Matthew Pastore; Kim L. McBride; Makanko Komara; Lihadh Al-Gazali; Aisha Al Shamsi; Elizabeth A. Fanning; Klaas J. Wierenga; Daryl A. Scott; Ziva Ben-Neriah; Vardiella Meiner; Hanoch Cassuto; Orly Elpeleg; J. Lloyd Holder; Lindsay C. Burrage; Laurie H. Seaver; Lionel Van Maldergem; Sonal Mahida; Janet S. Soul; Margaret Marlatt; Ludmila Matyakhina; Julie Vogt; June Anne Gold; Soo Mi Park; Vinod Varghese; Anne K. Lampe; Ajith Kumar; Melissa Lees; Muriel Holder-Espinasse; Vivienne McConnell; Birgitta Bernhard; Ed Blair; Victoria Harrison; Donna M. Muzny; Richard A. Gibbs; Sarah H. Elsea; Jennifer E. Posey; Weimin Bi; Seema Lalani; Fan Xia; Yaping Yang; Christine M. Eng; James R. Lupski; Pengfei Liu

doi:10.1186/s13073-019-0623-0

De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome

Francesco Vetrini, Shane McKee, Jill A. Rosenfeld, Mohnish Suri, Andrea M. Lewis, Kimberly Margaret Nugent, Elizabeth Roeder, Rebecca O. Littlejohn, Sue Holder, Wenmiao Zhu, Joseph T. Alaimo, Brett Graham, Jill M. Harris, James B. Gibson, Matthew Pastore, Kim L. McBride, Makanko Komara, Lihadh Al-Gazali, Aisha Al Shamsi, Elizabeth A. FanningKlaas J. Wierenga, Daryl A. Scott, Ziva Ben-Neriah, Vardiella Meiner, Hanoch Cassuto, Orly Elpeleg, J. Lloyd Holder, Lindsay C. Burrage, Laurie H. Seaver, Lionel Van Maldergem, Sonal Mahida, Janet S. Soul, Margaret Marlatt, Ludmila Matyakhina, Julie Vogt, June Anne Gold, Soo Mi Park, Vinod Varghese, Anne K. Lampe, Ajith Kumar, Melissa Lees, Muriel Holder-Espinasse, Vivienne McConnell, Birgitta Bernhard, Ed Blair, Victoria Harrison, Donna M. Muzny, Richard A. Gibbs, Sarah H. Elsea, Jennifer E. Posey, Weimin Bi, Seema Lalani, Fan Xia, Yaping Yang, Christine M. Eng, James R. Lupski, Pengfei Liu

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

Original language	English
Article number	12
Journal	Genome Medicine
Volume	11
Issue number	1
DOIs	https://doi.org/10.1186/s13073-019-0623-0
State	Published - Feb 28 2019

ASJC Scopus Subject Areas

Molecular Medicine
Molecular Biology
Genetics
Genetics(clinical)

Keywords

22q13
Deletions
Haploinsufficiency
Loss-of-function variants
Neurodevelopmental disorders
Smith-Magenis syndrome
TCF20

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10.1186/s13073-019-0623-0

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Vetrini, F., McKee, S., Rosenfeld, J. A., Suri, M., Lewis, A. M., Nugent, K. M., Roeder, E., Littlejohn, R. O., Holder, S., Zhu, W., Alaimo, J. T., Graham, B., Harris, J. M., Gibson, J. B., Pastore, M., McBride, K. L., Komara, M., Al-Gazali, L., Al Shamsi, A., ... Liu, P. (2019). De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome. Genome Medicine, 11(1), Article 12. https://doi.org/10.1186/s13073-019-0623-0

De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome. / Vetrini, Francesco; McKee, Shane; Rosenfeld, Jill A. et al.
In: Genome Medicine, Vol. 11, No. 1, 12, 28.02.2019.

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

Vetrini, F, McKee, S, Rosenfeld, JA, Suri, M, Lewis, AM, Nugent, KM, Roeder, E, Littlejohn, RO, Holder, S, Zhu, W, Alaimo, JT, Graham, B, Harris, JM, Gibson, JB, Pastore, M, McBride, KL, Komara, M, Al-Gazali, L, Al Shamsi, A, Fanning, EA, Wierenga, KJ, Scott, DA, Ben-Neriah, Z, Meiner, V, Cassuto, H, Elpeleg, O, Holder, JL, Burrage, LC, Seaver, LH, Van Maldergem, L, Mahida, S, Soul, JS, Marlatt, M, Matyakhina, L, Vogt, J, Gold, JA, Park, SM, Varghese, V, Lampe, AK, Kumar, A, Lees, M, Holder-Espinasse, M, McConnell, V, Bernhard, B, Blair, E, Harrison, V, Muzny, DM, Gibbs, RA, Elsea, SH, Posey, JE, Bi, W, Lalani, S, Xia, F, Yang, Y, Eng, CM, Lupski, JR & Liu, P 2019, 'De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome', Genome Medicine, vol. 11, no. 1, 12. https://doi.org/10.1186/s13073-019-0623-0

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AU - Suri, Mohnish

AU - Lewis, Andrea M.

AU - Nugent, Kimberly Margaret

AU - Roeder, Elizabeth

AU - Littlejohn, Rebecca O.

AU - Holder, Sue

AU - Zhu, Wenmiao

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AU - Graham, Brett

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AU - Al Shamsi, Aisha

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AU - Wierenga, Klaas J.

AU - Scott, Daryl A.

AU - Ben-Neriah, Ziva

AU - Meiner, Vardiella

AU - Cassuto, Hanoch

AU - Elpeleg, Orly

AU - Holder, J. Lloyd

AU - Burrage, Lindsay C.

AU - Seaver, Laurie H.

AU - Van Maldergem, Lionel

AU - Mahida, Sonal

AU - Soul, Janet S.

AU - Marlatt, Margaret

AU - Matyakhina, Ludmila

AU - Vogt, Julie

AU - Gold, June Anne

AU - Park, Soo Mi

AU - Varghese, Vinod

AU - Lampe, Anne K.

AU - Kumar, Ajith

AU - Lees, Melissa

AU - Holder-Espinasse, Muriel

AU - McConnell, Vivienne

AU - Bernhard, Birgitta

AU - Blair, Ed

AU - Harrison, Victoria

AU - Muzny, Donna M.

AU - Gibbs, Richard A.

AU - Elsea, Sarah H.

AU - Posey, Jennifer E.

AU - Bi, Weimin

AU - Lalani, Seema

AU - Xia, Fan

AU - Yang, Yaping

AU - Eng, Christine M.

AU - Lupski, James R.

AU - Liu, Pengfei

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KW - Haploinsufficiency

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De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome

ASJC Scopus Subject Areas

Keywords

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