Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU.

Christel Depienne; Caroline Nava; Boris Keren; Solveig Heide; Agnès Rastetter; Sandrine Passemard; Sandra Chantot-Bastaraud; Marie-Laure Moutard; Pankaj B Agrawal; Grace VanNoy; Joan M Stoler; David J Amor; Thierry Billette de Villemeur; Diane Doummar; Caroline Alby; Valérie Cormier-Daire; Catherine Garel; Pauline Marzin; Sophie Scheidecker; Anne de Saint-Martin; Edouard Hirsch; Christian Korff; Armand Bottani; Laurence Faivre; Alain Verloes; Christine Orzechowski; Lydie Burglen; Bruno Leheup; Joelle Roume; Joris Andrieux; Frenny Sheth; Chaitanya Datar; Michael J Parker; Laurent Pasquier; Sylvie Odent; Sophie Naudion; Marie-Ange Delrue; Cédric Le Caignec; Marie Vincent; Bertrand Isidor; Florence Renaldo; Fiona Stewart; Annick Toutain; Udo Koehler; Birgit Häckl; Celina von Stülpnagel; Gerhard Kluger; Rikke S Møller; Deb Pal; Tord Jonson; Maria Soller; Nienke E Verbeek; Mieke M van Haelst; Carolien de Kovel; Bobby Koeleman; Glen Monroe; Gijs van Haaften; Tania Attié-Bitach; Lucile Boutaud; Delphine Héron; Cyril Mignot

doi:10.1007/s00439-017-1772-0

Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU.

Christel Depienne
, Caroline Nava
, Boris Keren
, Solveig Heide
, Agnès Rastetter
, Sandrine Passemard
, Sandra Chantot-Bastaraud
, Marie-Laure Moutard
, Pankaj B Agrawal
, Grace VanNoy
, Joan M Stoler
, David J Amor
, Thierry Billette de Villemeur
, Diane Doummar
, Caroline Alby
, Valérie Cormier-Daire
, Catherine Garel
, Pauline Marzin
, Sophie Scheidecker
, Anne de Saint-Martin

Edouard Hirsch, Christian Korff, Armand Bottani, Laurence Faivre, Alain Verloes, Christine Orzechowski, Lydie Burglen, Bruno Leheup, Joelle Roume, Joris Andrieux, Frenny Sheth, Chaitanya Datar, Michael J Parker, Laurent Pasquier, Sylvie Odent, Sophie Naudion, Marie-Ange Delrue, Cédric Le Caignec, Marie Vincent, Bertrand Isidor, Florence Renaldo, Fiona Stewart, Annick Toutain, Udo Koehler, Birgit Häckl, Celina von Stülpnagel (Co-author), Gerhard Kluger (Co-author), Rikke S Møller, Deb Pal, Tord Jonson, Maria Soller, Nienke E Verbeek, Mieke M van Haelst, Carolien de Kovel, Bobby Koeleman, Glen Monroe, Gijs van Haaften, Tania Attié-Bitach, Lucile Boutaud, Delphine Héron, Cyril Mignot

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

67 Citations (Web of Science)

Original language	English
Pages (from-to)	463-479
Journal	HUMAN GENETICS
Volume	136
Issue number	4
DOIs	https://doi.org/10.1007/s00439-017-1772-0
Publication status	Published - 2017

Keywords

DE-NOVO MUTATIONS
CORPUS-CALLOSUM
INTELLECTUAL DISABILITY
CANDIDATE GENES
EPILEPTIC ENCEPHALOPATHIES
MEGALENCEPHALY SYNDROMES
1Q44 MICRODELETION
DELETION
AKT3
ABNORMALITIES

Access to Document

10.1007/s00439-017-1772-0

Cite this

Depienne, C., Nava, C., Keren, B., Heide, S., Rastetter, A., Passemard, S., Chantot-Bastaraud, S., Moutard, M.-L., Agrawal, P. B., VanNoy, G., Stoler, J. M., Amor, D. J., Billette de Villemeur, T., Doummar, D., Alby, C., Cormier-Daire, V., Garel, C., Marzin, P., Scheidecker, S., ... Mignot, C. (2017). Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU. HUMAN GENETICS , 136(4), 463-479. https://doi.org/10.1007/s00439-017-1772-0

Depienne, Christel ; Nava, Caroline ; Keren, Boris et al. / Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU. In: HUMAN GENETICS 2017 ; Vol. 136, No. 4. pp. 463-479.

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title = "Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU.",

keywords = "DE-NOVO MUTATIONS, CORPUS-CALLOSUM, INTELLECTUAL DISABILITY, CANDIDATE GENES, EPILEPTIC ENCEPHALOPATHIES, MEGALENCEPHALY SYNDROMES, 1Q44 MICRODELETION, DELETION, AKT3, ABNORMALITIES",

author = "Christel Depienne and Caroline Nava and Boris Keren and Solveig Heide and Agn{\`e}s Rastetter and Sandrine Passemard and Sandra Chantot-Bastaraud and Marie-Laure Moutard and Agrawal, \{Pankaj B\} and Grace VanNoy and Stoler, \{Joan M\} and Amor, \{David J\} and \{Billette de Villemeur\}, Thierry and Diane Doummar and Caroline Alby and Val{\'e}rie Cormier-Daire and Catherine Garel and Pauline Marzin and Sophie Scheidecker and \{de Saint-Martin\}, Anne and Edouard Hirsch and Christian Korff and Armand Bottani and Laurence Faivre and Alain Verloes and Christine Orzechowski and Lydie Burglen and Bruno Leheup and Joelle Roume and Joris Andrieux and Frenny Sheth and Chaitanya Datar and Parker, \{Michael J\} and Laurent Pasquier and Sylvie Odent and Sophie Naudion and Marie-Ange Delrue and \{Le Caignec\}, C{\'e}dric and Marie Vincent and Bertrand Isidor and Florence Renaldo and Fiona Stewart and Annick Toutain and Udo Koehler and Birgit H{\"a}ckl and \{von St{\"u}lpnagel\}, Celina and Gerhard Kluger and M{\o}ller, \{Rikke S\} and Deb Pal and Tord Jonson and Maria Soller and Verbeek, \{Nienke E\} and \{van Haelst\}, \{Mieke M\} and \{de Kovel\}, Carolien and Bobby Koeleman and Glen Monroe and \{van Haaften\}, Gijs and Tania Atti{\'e}-Bitach and Lucile Boutaud and Delphine H{\'e}ron and Cyril Mignot",

note = "H{\"a}ckl, St{\"u}lpnagel, Kluger: Hospital for Neuropediatrics and Neurological Rehabilitation, Epilepsy Center for Children and Adolescents, Vogtareuth, Germany; Kluger: PMU Salzburg, Austria",

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Depienne, C, Nava, C, Keren, B, Heide, S, Rastetter, A, Passemard, S, Chantot-Bastaraud, S, Moutard, M-L, Agrawal, PB, VanNoy, G, Stoler, JM, Amor, DJ, Billette de Villemeur, T, Doummar, D, Alby, C, Cormier-Daire, V, Garel, C, Marzin, P, Scheidecker, S, de Saint-Martin, A, Hirsch, E, Korff, C, Bottani, A, Faivre, L, Verloes, A, Orzechowski, C, Burglen, L, Leheup, B, Roume, J, Andrieux, J, Sheth, F, Datar, C, Parker, MJ, Pasquier, L, Odent, S, Naudion, S, Delrue, M-A, Le Caignec, C, Vincent, M, Isidor, B, Renaldo, F, Stewart, F, Toutain, A, Koehler, U, Häckl, B, von Stülpnagel, C , Kluger, G, Møller, RS, Pal, D, Jonson, T, Soller, M, Verbeek, NE, van Haelst, MM, de Kovel, C, Koeleman, B, Monroe, G, van Haaften, G, Attié-Bitach, T, Boutaud, L, Héron, D & Mignot, C 2017, 'Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU.', HUMAN GENETICS , vol. 136, no. 4, pp. 463-479. https://doi.org/10.1007/s00439-017-1772-0

Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU. / Depienne, Christel; Nava, Caroline; Keren, Boris et al.
In: HUMAN GENETICS , Vol. 136, No. 4, 2017, p. 463-479.

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

TY - JOUR

T1 - Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU.

AU - Depienne, Christel

AU - Nava, Caroline

AU - Keren, Boris

AU - Heide, Solveig

AU - Rastetter, Agnès

AU - Passemard, Sandrine

AU - Chantot-Bastaraud, Sandra

AU - Moutard, Marie-Laure

AU - Agrawal, Pankaj B

AU - VanNoy, Grace

AU - Stoler, Joan M

AU - Amor, David J

AU - Billette de Villemeur, Thierry

AU - Doummar, Diane

AU - Alby, Caroline

AU - Cormier-Daire, Valérie

AU - Garel, Catherine

AU - Marzin, Pauline

AU - Scheidecker, Sophie

AU - de Saint-Martin, Anne

AU - Hirsch, Edouard

AU - Korff, Christian

AU - Bottani, Armand

AU - Faivre, Laurence

AU - Verloes, Alain

AU - Orzechowski, Christine

AU - Burglen, Lydie

AU - Leheup, Bruno

AU - Roume, Joelle

AU - Andrieux, Joris

AU - Sheth, Frenny

AU - Datar, Chaitanya

AU - Parker, Michael J

AU - Pasquier, Laurent

AU - Odent, Sylvie

AU - Naudion, Sophie

AU - Delrue, Marie-Ange

AU - Le Caignec, Cédric

AU - Vincent, Marie

AU - Isidor, Bertrand

AU - Renaldo, Florence

AU - Stewart, Fiona

AU - Toutain, Annick

AU - Koehler, Udo

AU - Häckl, Birgit

AU - von Stülpnagel, Celina

AU - Kluger, Gerhard

AU - Møller, Rikke S

AU - Pal, Deb

AU - Jonson, Tord

AU - Soller, Maria

AU - Verbeek, Nienke E

AU - van Haelst, Mieke M

AU - de Kovel, Carolien

AU - Koeleman, Bobby

AU - Monroe, Glen

AU - van Haaften, Gijs

AU - Attié-Bitach, Tania

AU - Boutaud, Lucile

AU - Héron, Delphine

AU - Mignot, Cyril

N1 - Häckl, Stülpnagel, Kluger: Hospital for Neuropediatrics and Neurological Rehabilitation, Epilepsy Center for Children and Adolescents, Vogtareuth, Germany; Kluger: PMU Salzburg, Austria

PY - 2017

Y1 - 2017

KW - DE-NOVO MUTATIONS

KW - CORPUS-CALLOSUM

KW - INTELLECTUAL DISABILITY

KW - CANDIDATE GENES

KW - EPILEPTIC ENCEPHALOPATHIES

KW - MEGALENCEPHALY SYNDROMES

KW - 1Q44 MICRODELETION

KW - DELETION

KW - AKT3

KW - ABNORMALITIES

U2 - 10.1007/s00439-017-1772-0

DO - 10.1007/s00439-017-1772-0

M3 - Original Article

C2 - 28283832

SN - 0340-6717

VL - 136

SP - 463

EP - 479

JO - HUMAN GENETICS

JF - HUMAN GENETICS

IS - 4

ER -

Depienne C, Nava C, Keren B, Heide S, Rastetter A, Passemard S et al. Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU. HUMAN GENETICS . 2017;136(4):463-479. doi: 10.1007/s00439-017-1772-0