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

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

Onderzoeksoutput: Article › Academic › peer review

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Originele taal-2	English
Pagina's (van-tot)	631
Aantal pagina's	1
Tijdschrift	American Journal of Human Genetics
Volume	103
Nummer van het tijdschrift	4
DOI's	https://doi.org/10.1016/j.ajhg.2018.09.002
Status	Published - 4-okt.-2018

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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 DysgenesisFinal publisher's version, 99,4 KBLicentie: Taverne

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DDD Study, C4RCD Res Grp, 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., ... Schuurs-Hoeijmakers, J. (2018). A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis (vol 102, pg 995, 2018). American Journal of Human Genetics, 103(4), 631. https://doi.org/10.1016/j.ajhg.2018.09.002

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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 = "{DDD Study} and {C4RCD Res Grp} and 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 Janneke Schuurs-Hoeijmakers",

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DDD Study, C4RCD Res Grp, Olson, HE, Jean-Marcais, N, Yang, E, Heron, D, Tatton-Brown, K, van der Zwaag, PA, Bijlsma, EK, Krock, BL, Backer, E, Kamsteeg, E-J, Sinnema, M, Reijnders, MRF, Bearden, D, Begtrup, A, Telegrafi, A, Lunsing, RJ, Burglen, L, Lesca, G, Cho, MT, Smith, LA, Sheidley, BR, El Achkar, CM, Pearl, PL, Poduri, A, Skraban, CM, Tarpinian, J, Nesbitt, AI, van de Putte, DEF, Ruivenkamp, CAL, Rump, P, Chatron, N, Sabatier, I, De Bellescize, J, Guibaud, L, Sweetser, DA, Waxler, JL, Wierenga, KJ, Donadieu, J, Narayanan, V, Ramsey, KM, Nava, C, Riviere, J-B, Vitobello, A, Mau-Them, FT, Philippe, C, Bruel, A-L, Duffourd, Y, Thomas, L, Lelieveld, SH & Schuurs-Hoeijmakers, J 2018, 'A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis (vol 102, pg 995, 2018)', American Journal of Human Genetics, vol. 103, nr. 4, blz. 631. https://doi.org/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; Olson, Heather E. et al.
In: American Journal of Human Genetics, Vol. 103, Nr. 4, 04.10.2018, blz. 631.

Onderzoeksoutput: Article › Academic › peer review

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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 - DDD Study

AU - C4RCD Res Grp

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 - Schuurs-Hoeijmakers, Janneke

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 - Article

SN - 0002-9297

VL - 103

SP - 631

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

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