SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females

F.C. Radio; K.F. Pang; A. Ciolfi; M.A. Levy; A. Hernandez-Garcia; L. Pedace; F. Pantaleoni; Z.D. Liu; E. de Boer; A. Jackson; A. Bruselles; H. McConkey; E. Stellacci; S. Lo Cicero; M. Motta; R. Carrozzo; M.L. Dentici; K. McWalter; M. Desai; K.G. Monaghan; A. Telegrafi; C. Philippe; A. Vitobello; M. Au; K. Grand; P.A. Sanchez-Lara; J. Baez; K. Lindstrom; P. Kulch; J. Sebastian; S. Madan-Khetarpal; C. Roadhouse; J.J. MacKenzie; B. Monteleone; C.J. Saunders; J.K.J. Cuevas; L. Cross; D.H. Zhou; T. Hartley; S.L. Sawyer; F.P. Monteiro; T.V. Secches; F. Kok; L.E. Schultz-Rogers; E.L. Macke; E. Morava; E.W. Klee; J. Kemppainen; M. Iascone; A. Selicorni; A.P.A. Stegmann; Marco Tartaglia

doi:10.1016/j.ajhg.2021.01.015

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females

F.C. Radio, K.F. Pang, A. Ciolfi, M.A. Levy, A. Hernandez-Garcia, L. Pedace, F. Pantaleoni, Z.D. Liu, E. de Boer, A. Jackson, A. Bruselles, H. McConkey, E. Stellacci, S. Lo Cicero, M. Motta, R. Carrozzo, M.L. Dentici, K. McWalter, M. Desai, K.G. MonaghanA. Telegrafi, C. Philippe, A. Vitobello, M. Au, K. Grand, P.A. Sanchez-Lara, J. Baez, K. Lindstrom, P. Kulch, J. Sebastian, S. Madan-Khetarpal, C. Roadhouse, J.J. MacKenzie, B. Monteleone, C.J. Saunders, J.K.J. Cuevas, L. Cross, D.H. Zhou, T. Hartley, S.L. Sawyer, F.P. Monteiro, T.V. Secches, F. Kok, L.E. Schultz-Rogers, E.L. Macke, E. Morava, E.W. Klee, J. Kemppainen, M. Iascone, A. Selicorni, A.P.A. Stegmann, Marco Tartaglia^*

^*Corresponding author for this work

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

21 Citations (Web of Science)

Original language	English
Pages (from-to)	502-516
Number of pages	15
Journal	American Journal of Human Genetics
Volume	108
Issue number	3
DOIs	https://doi.org/10.1016/j.ajhg.2021.01.015
Publication status	Published - 4 Mar 2021

Keywords

SPLIT-ENDS
MONOSOMY 1P36
MOLECULAR CHARACTERIZATION
PHENOTYPE CORRELATIONS
REVEALS
SHARP
MUTATIONS
PROTEIN
GENE
IDENTIFICATION

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Radio, F. C., Pang, K. F., Ciolfi, A., Levy, M. A., Hernandez-Garcia, A., Pedace, L., Pantaleoni, F., Liu, Z. D., de Boer, E., Jackson, A., Bruselles, A., McConkey, H., Stellacci, E., Lo Cicero, S., Motta, M., Carrozzo, R., Dentici, M. L., McWalter, K., Desai, M., ... Tartaglia, M. (2021). SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females. American Journal of Human Genetics, 108(3), 502-516. https://doi.org/10.1016/j.ajhg.2021.01.015

Radio, F.C. ; Pang, K.F. ; Ciolfi, A. ; Levy, M.A. ; Hernandez-Garcia, A. ; Pedace, L. ; Pantaleoni, F. ; Liu, Z.D. ; de Boer, E. ; Jackson, A. ; Bruselles, A. ; McConkey, H. ; Stellacci, E. ; Lo Cicero, S. ; Motta, M. ; Carrozzo, R. ; Dentici, M.L. ; McWalter, K. ; Desai, M. ; Monaghan, K.G. ; Telegrafi, A. ; Philippe, C. ; Vitobello, A. ; Au, M. ; Grand, K. ; Sanchez-Lara, P.A. ; Baez, J. ; Lindstrom, K. ; Kulch, P. ; Sebastian, J. ; Madan-Khetarpal, S. ; Roadhouse, C. ; MacKenzie, J.J. ; Monteleone, B. ; Saunders, C.J. ; Cuevas, J.K.J. ; Cross, L. ; Zhou, D.H. ; Hartley, T. ; Sawyer, S.L. ; Monteiro, F.P. ; Secches, T.V. ; Kok, F. ; Schultz-Rogers, L.E. ; Macke, E.L. ; Morava, E. ; Klee, E.W. ; Kemppainen, J. ; Iascone, M. ; Selicorni, A. ; Stegmann, A.P.A. ; Tartaglia, Marco. / SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females. In: American Journal of Human Genetics. 2021 ; Vol. 108, No. 3. pp. 502-516.

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title = "SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females",

keywords = "SPLIT-ENDS, MONOSOMY 1P36, MOLECULAR CHARACTERIZATION, PHENOTYPE CORRELATIONS, REVEALS, SHARP, MUTATIONS, PROTEIN, GENE, IDENTIFICATION",

author = "F.C. Radio and K.F. Pang and A. Ciolfi and M.A. Levy and A. Hernandez-Garcia and L. Pedace and F. Pantaleoni and Z.D. Liu and {de Boer}, E. and A. Jackson and A. Bruselles and H. McConkey and E. Stellacci and {Lo Cicero}, S. and M. Motta and R. Carrozzo and M.L. Dentici and K. McWalter and M. Desai and K.G. Monaghan and A. Telegrafi and C. Philippe and A. Vitobello and M. Au and K. Grand and P.A. Sanchez-Lara and J. Baez and K. Lindstrom and P. Kulch and J. Sebastian and S. Madan-Khetarpal and C. Roadhouse and J.J. MacKenzie and B. Monteleone and C.J. Saunders and J.K.J. Cuevas and L. Cross and D.H. Zhou and T. Hartley and S.L. Sawyer and F.P. Monteiro and T.V. Secches and F. Kok and L.E. Schultz-Rogers and E.L. Macke and E. Morava and E.W. Klee and J. Kemppainen and M. Iascone and A. Selicorni and A.P.A. Stegmann and Marco Tartaglia",

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doi = "10.1016/j.ajhg.2021.01.015",

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Radio, FC, Pang, KF, Ciolfi, A, Levy, MA, Hernandez-Garcia, A, Pedace, L, Pantaleoni, F, Liu, ZD, de Boer, E, Jackson, A, Bruselles, A, McConkey, H, Stellacci, E, Lo Cicero, S, Motta, M, Carrozzo, R, Dentici, ML, McWalter, K, Desai, M, Monaghan, KG, Telegrafi, A, Philippe, C, Vitobello, A, Au, M, Grand, K, Sanchez-Lara, PA, Baez, J, Lindstrom, K, Kulch, P, Sebastian, J, Madan-Khetarpal, S, Roadhouse, C, MacKenzie, JJ, Monteleone, B, Saunders, CJ, Cuevas, JKJ, Cross, L, Zhou, DH, Hartley, T, Sawyer, SL, Monteiro, FP, Secches, TV, Kok, F, Schultz-Rogers, LE, Macke, EL, Morava, E, Klee, EW, Kemppainen, J, Iascone, M, Selicorni, A, Stegmann, APA & Tartaglia, M 2021, 'SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females', American Journal of Human Genetics, vol. 108, no. 3, pp. 502-516. https://doi.org/10.1016/j.ajhg.2021.01.015

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females. / Radio, F.C.; Pang, K.F.; Ciolfi, A.; Levy, M.A.; Hernandez-Garcia, A.; Pedace, L.; Pantaleoni, F.; Liu, Z.D.; de Boer, E.; Jackson, A.; Bruselles, A.; McConkey, H.; Stellacci, E.; Lo Cicero, S.; Motta, M.; Carrozzo, R.; Dentici, M.L.; McWalter, K.; Desai, M.; Monaghan, K.G.; Telegrafi, A.; Philippe, C.; Vitobello, A.; Au, M.; Grand, K.; Sanchez-Lara, P.A.; Baez, J.; Lindstrom, K.; Kulch, P.; Sebastian, J.; Madan-Khetarpal, S.; Roadhouse, C.; MacKenzie, J.J.; Monteleone, B.; Saunders, C.J.; Cuevas, J.K.J.; Cross, L.; Zhou, D.H.; Hartley, T.; Sawyer, S.L.; Monteiro, F.P.; Secches, T.V.; Kok, F.; Schultz-Rogers, L.E.; Macke, E.L.; Morava, E.; Klee, E.W.; Kemppainen, J.; Iascone, M.; Selicorni, A.; Stegmann, A.P.A.; Tartaglia, Marco.

In: American Journal of Human Genetics, Vol. 108, No. 3, 04.03.2021, p. 502-516.

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

TY - JOUR

T1 - SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females

AU - Radio, F.C.

AU - Pang, K.F.

AU - Ciolfi, A.

AU - Levy, M.A.

AU - Hernandez-Garcia, A.

AU - Pedace, L.

AU - Pantaleoni, F.

AU - Liu, Z.D.

AU - de Boer, E.

AU - Jackson, A.

AU - Bruselles, A.

AU - McConkey, H.

AU - Stellacci, E.

AU - Lo Cicero, S.

AU - Motta, M.

AU - Carrozzo, R.

AU - Dentici, M.L.

AU - McWalter, K.

AU - Desai, M.

AU - Monaghan, K.G.

AU - Telegrafi, A.

AU - Philippe, C.

AU - Vitobello, A.

AU - Au, M.

AU - Grand, K.

AU - Sanchez-Lara, P.A.

AU - Baez, J.

AU - Lindstrom, K.

AU - Kulch, P.

AU - Sebastian, J.

AU - Madan-Khetarpal, S.

AU - Roadhouse, C.

AU - MacKenzie, J.J.

AU - Monteleone, B.

AU - Saunders, C.J.

AU - Cuevas, J.K.J.

AU - Cross, L.

AU - Zhou, D.H.

AU - Hartley, T.

AU - Sawyer, S.L.

AU - Monteiro, F.P.

AU - Secches, T.V.

AU - Kok, F.

AU - Schultz-Rogers, L.E.

AU - Macke, E.L.

AU - Morava, E.

AU - Klee, E.W.

AU - Kemppainen, J.

AU - Iascone, M.

AU - Selicorni, A.

AU - Stegmann, A.P.A.

AU - Tartaglia, Marco

PY - 2021/3/4

Y1 - 2021/3/4

KW - SPLIT-ENDS

KW - MONOSOMY 1P36

KW - MOLECULAR CHARACTERIZATION

KW - PHENOTYPE CORRELATIONS

KW - REVEALS

KW - SHARP

KW - MUTATIONS

KW - PROTEIN

KW - GENE

KW - IDENTIFICATION

U2 - 10.1016/j.ajhg.2021.01.015

DO - 10.1016/j.ajhg.2021.01.015

M3 - Article

C2 - 33596411

VL - 108

SP - 502

EP - 516

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

SN - 0002-9297

IS - 3

ER -