A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis (vol 102, pg 995, 2018)

DDD Study; C4RCD Res Grp; Christel Thauvin-Robinet

doi:10.1016/j.ajhg.2018.09.002

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis (vol 102, pg 995, 2018)

DDD Study, C4RCD Res Grp, Christel Thauvin-Robinet^*

^*Corresponding author for this work

Research output: Contribution to journal › Erratum / corrigendum / retractions › Academic

Original language	English
Pages (from-to)	631-631
Number of pages	1
Journal	American Journal of Human Genetics
Volume	103
Issue number	4
DOIs	https://doi.org/10.1016/j.ajhg.2018.09.002
Publication status	Published - 4 Oct 2018

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1 Article

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis
Olson, H. E., Jean-Marcais, N., Yang, E., Heron, D., Tatton-Brown, K., van der Zwaag, P. A., Bijlsma, E. K., Krock, B. L., Backer, E., Kamsteeg, E-J., Sinnema, M., Reijnders, M. R. F., Bearden, D., Begtrup, A., Telegrafi, A., Lunsing, R. J., Burglen, L., Lesca, G., Cho, M. T., Smith, L. A., & 32 othersSheidley, B. R., El Achkar, C. M., Pearl, P. L., Poduri, A., Skraban, C. M., Tarpinian, J., Nesbitt, A. I., van de Putte, D. E. F., Ruivenkamp, C. A. L., Rump, P., Chatron, N., Sabatier, I., De Bellescize, J., Guibaud, L., Sweetser, D. A., Waxler, J. L., Wierenga, K. J., Donadieu, J., Narayanan, V., Ramsey, K. M., Nava, C., Riviere, J-B., Vitobello, A., Mau-Them, F. T., Philippe, C., Bruel, A-L., Duffourd, Y., Thomas, L., Lelieveld, S. H., Brunner, H. G., DDD Study; C4RCD Res Grp & Thauvin-Robinet, C., 3 May 2018, In: American Journal of Human Genetics. 102, 5, p. 995-1007 13 p.
Research output: Contribution to journal › Article › Academic › peer-review

Open Access

Cite this

@article{24e7fb4d28e54ba2886ac61705301077,

title = "A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis (vol 102, pg 995, 2018)",

author = "Olson, {Heather E.} and Nolwenn Jean-Marcais and Edward Yang and Delphine Heron and Katrina Tatton-Brown and {van der Zwaag}, {Paul A.} and Bijlsma, {Emilia K.} and Krock, {Bryan L.} and E. Backer and Erik-Jan Kamsteeg and Margje Sinnema and Reijnders, {Margot R. F.} and David Bearden and Amber Begtrup and Aida Telegrafi and Lunsing, {Roelineke J.} and Lydie Burglen and Gaetan Lesca and Cho, {Megan T.} and Smith, {Lacey A.} and Sheidley, {Beth R.} and {El Achkar}, {Christelle Moufawad} and Pearl, {Phillip L.} and Annapurna Poduri and Skraban, {Cara M.} and Jennifer Tarpinian and Nesbitt, {Addie I.} and {van de Putte}, {Dietje E. Fransen} and Ruivenkamp, {Claudia A. L.} and Patrick Rump and Nicolas Chatron and Isabelle Sabatier and {De Bellescize}, Julitta and Laurent Guibaud and Sweetser, {David A.} and Waxler, {Jessica L.} and Wierenga, {Klaas J.} and Jean Donadieu and Vinodh Narayanan and Ramsey, {Keri M.} and Caroline Nava and Jean-Baptiste Riviere and Antonio Vitobello and Mau-Them, {Frerdric Tran} and Christophe Philippe and Ange-Line Bruel and Yannis Duffourd and Laurel Thomas and Lelieveld, {Stefan H.} and Brunner, {Han G.} and {DDD Study} and {C4RCD Res Grp} and Christel Thauvin-Robinet",

year = "2018",

month = oct,

day = "4",

doi = "10.1016/j.ajhg.2018.09.002",

language = "English",

volume = "103",

pages = "631--631",

journal = "American Journal of Human Genetics",

issn = "0002-9297",

publisher = "Cell Press",

number = "4",

}

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis (vol 102, pg 995, 2018). / DDD Study; C4RCD Res Grp; Thauvin-Robinet, Christel.
In: American Journal of Human Genetics, Vol. 103, No. 4, 04.10.2018, p. 631-631.

Research output: Contribution to journal › Erratum / corrigendum / retractions › Academic

TY - JOUR

T1 - A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis (vol 102, pg 995, 2018)

AU - Olson, Heather E.

AU - Jean-Marcais, Nolwenn

AU - Yang, Edward

AU - Heron, Delphine

AU - Tatton-Brown, Katrina

AU - van der Zwaag, Paul A.

AU - Bijlsma, Emilia K.

AU - Krock, Bryan L.

AU - Backer, E.

AU - Kamsteeg, Erik-Jan

AU - Sinnema, Margje

AU - Reijnders, Margot R. F.

AU - Bearden, David

AU - Begtrup, Amber

AU - Telegrafi, Aida

AU - Lunsing, Roelineke J.

AU - Burglen, Lydie

AU - Lesca, Gaetan

AU - Cho, Megan T.

AU - Smith, Lacey A.

AU - Sheidley, Beth R.

AU - El Achkar, Christelle Moufawad

AU - Pearl, Phillip L.

AU - Poduri, Annapurna

AU - Skraban, Cara M.

AU - Tarpinian, Jennifer

AU - Nesbitt, Addie I.

AU - van de Putte, Dietje E. Fransen

AU - Ruivenkamp, Claudia A. L.

AU - Rump, Patrick

AU - Chatron, Nicolas

AU - Sabatier, Isabelle

AU - De Bellescize, Julitta

AU - Guibaud, Laurent

AU - Sweetser, David A.

AU - Waxler, Jessica L.

AU - Wierenga, Klaas J.

AU - Donadieu, Jean

AU - Narayanan, Vinodh

AU - Ramsey, Keri M.

AU - Nava, Caroline

AU - Riviere, Jean-Baptiste

AU - Vitobello, Antonio

AU - Mau-Them, Frerdric Tran

AU - Philippe, Christophe

AU - Bruel, Ange-Line

AU - Duffourd, Yannis

AU - Thomas, Laurel

AU - Lelieveld, Stefan H.

AU - Brunner, Han G.

AU - DDD Study

AU - C4RCD Res Grp

AU - Thauvin-Robinet, Christel

PY - 2018/10/4

Y1 - 2018/10/4

U2 - 10.1016/j.ajhg.2018.09.002

DO - 10.1016/j.ajhg.2018.09.002

M3 - Erratum / corrigendum / retractions

C2 - 30290155

SN - 0002-9297

VL - 103

SP - 631

EP - 631

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

IS - 4

ER -