Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes.

Ilaria Parenti; María E Teresa-Rodrigo; Jelena Pozojevic; Sara Ruiz Gil; Ingrid Bader; Diana Braunholz; Nuria C Bramswig; Cristina Gervasini; Lidia Larizza; Lutz Pfeiffer; Ferda Ozkinay; Feliciano Ramos; Benedikt Reiz; Olaf Rittinger; Tim M Strom; Erwan Watrin; Kerstin Wendt; Dagmar Wieczorek; Bernd Wollnik; Carolina Baquero-Montoya; Juan Pié; Matthew A Deardorff; Gabriele Gillessen-Kaesbach; Frank J Kaiser

doi:10.1007/s00439-017-1758-y

Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes.

Ilaria Parenti, María E Teresa-Rodrigo, Jelena Pozojevic, Sara Ruiz Gil, Ingrid Bader (Co-author), Diana Braunholz, Nuria C Bramswig, Cristina Gervasini, Lidia Larizza, Lutz Pfeiffer, Ferda Ozkinay, Feliciano Ramos, Benedikt Reiz, Olaf Rittinger, Tim M Strom, Erwan Watrin, Kerstin Wendt, Dagmar Wieczorek, Bernd Wollnik, Carolina Baquero-MontoyaJuan Pié, Matthew A Deardorff, Gabriele Gillessen-Kaesbach, Frank J Kaiser

Department of Pediatrics

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

62 Citations (Web of Science)

Original language	English
Pages (from-to)	307-320
Journal	HUMAN GENETICS
Volume	136
Issue number	3
DOIs	https://doi.org/10.1007/s00439-017-1758-y
Publication status	Published - 2017

Keywords

CAUSE INTELLECTUAL DISABILITY
COFFIN-SIRIS SYNDROME
OF-FUNCTION MUTATIONS
TRANSCRIPTIONAL REGULATION
GENETIC-HETEROGENEITY
MOLECULAR DIAGNOSTICS
HDAC8 MUTATIONS
NIPPED-B
COMPLEX
COHESIN

Access to Document

10.1007/s00439-017-1758-y

Cite this

Parenti, I., Teresa-Rodrigo, M. E., Pozojevic, J., Ruiz Gil, S., Bader, I., Braunholz, D., Bramswig, N. C., Gervasini, C., Larizza, L., Pfeiffer, L., Ozkinay, F., Ramos, F., Reiz, B., Rittinger, O., Strom, T. M., Watrin, E., Wendt, K., Wieczorek, D., Wollnik, B., ... Kaiser, F. J. (2017). Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes. HUMAN GENETICS , 136(3), 307-320. https://doi.org/10.1007/s00439-017-1758-y

Parenti, Ilaria ; Teresa-Rodrigo, María E ; Pozojevic, Jelena et al. / Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes. In: HUMAN GENETICS 2017 ; Vol. 136, No. 3. pp. 307-320.

@article{cf14b1dd0b8b4f8aa66f74eb25b8f3f0,

title = "Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes.",

keywords = "CAUSE INTELLECTUAL DISABILITY, COFFIN-SIRIS SYNDROME, OF-FUNCTION MUTATIONS, TRANSCRIPTIONAL REGULATION, GENETIC-HETEROGENEITY, MOLECULAR DIAGNOSTICS, HDAC8 MUTATIONS, NIPPED-B, COMPLEX, COHESIN",

author = "Ilaria Parenti and Teresa-Rodrigo, \{Mar{\'i}a E\} and Jelena Pozojevic and \{Ruiz Gil\}, Sara and Ingrid Bader and Diana Braunholz and Bramswig, \{Nuria C\} and Cristina Gervasini and Lidia Larizza and Lutz Pfeiffer and Ferda Ozkinay and Feliciano Ramos and Benedikt Reiz and Olaf Rittinger and Strom, \{Tim M\} and Erwan Watrin and Kerstin Wendt and Dagmar Wieczorek and Bernd Wollnik and Carolina Baquero-Montoya and Juan Pi{\'e} and Deardorff, \{Matthew A\} and Gabriele Gillessen-Kaesbach and Kaiser, \{Frank J\}",

note = "Bader, Rittinger: Clinical Genetics Unit, Children{\textquoteright}s Hospital, Paracelsus Medical University, Salzburg, Austria",

year = "2017",

doi = "10.1007/s00439-017-1758-y",

language = "English",

volume = "136",

pages = "307--320",

journal = "HUMAN GENETICS ",

issn = "0340-6717",

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Parenti, I, Teresa-Rodrigo, ME, Pozojevic, J, Ruiz Gil, S, Bader, I, Braunholz, D, Bramswig, NC, Gervasini, C, Larizza, L, Pfeiffer, L, Ozkinay, F, Ramos, F, Reiz, B, Rittinger, O, Strom, TM, Watrin, E, Wendt, K, Wieczorek, D, Wollnik, B, Baquero-Montoya, C, Pié, J, Deardorff, MA, Gillessen-Kaesbach, G & Kaiser, FJ 2017, 'Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes.', HUMAN GENETICS , vol. 136, no. 3, pp. 307-320. https://doi.org/10.1007/s00439-017-1758-y

Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes. / Parenti, Ilaria; Teresa-Rodrigo, María E; Pozojevic, Jelena et al.
In: HUMAN GENETICS , Vol. 136, No. 3, 2017, p. 307-320.

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

TY - JOUR

T1 - Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes.

AU - Parenti, Ilaria

AU - Teresa-Rodrigo, María E

AU - Pozojevic, Jelena

AU - Ruiz Gil, Sara

AU - Bader, Ingrid

AU - Braunholz, Diana

AU - Bramswig, Nuria C

AU - Gervasini, Cristina

AU - Larizza, Lidia

AU - Pfeiffer, Lutz

AU - Ozkinay, Ferda

AU - Ramos, Feliciano

AU - Reiz, Benedikt

AU - Rittinger, Olaf

AU - Strom, Tim M

AU - Watrin, Erwan

AU - Wendt, Kerstin

AU - Wieczorek, Dagmar

AU - Wollnik, Bernd

AU - Baquero-Montoya, Carolina

AU - Pié, Juan

AU - Deardorff, Matthew A

AU - Gillessen-Kaesbach, Gabriele

AU - Kaiser, Frank J

N1 - Bader, Rittinger: Clinical Genetics Unit, Children’s Hospital, Paracelsus Medical University, Salzburg, Austria

PY - 2017

Y1 - 2017

KW - CAUSE INTELLECTUAL DISABILITY

KW - COFFIN-SIRIS SYNDROME

KW - OF-FUNCTION MUTATIONS

KW - TRANSCRIPTIONAL REGULATION

KW - GENETIC-HETEROGENEITY

KW - MOLECULAR DIAGNOSTICS

KW - HDAC8 MUTATIONS

KW - NIPPED-B

KW - COMPLEX

KW - COHESIN

U2 - 10.1007/s00439-017-1758-y

DO - 10.1007/s00439-017-1758-y

M3 - Original Article

C2 - 28120103

SN - 0340-6717

VL - 136

SP - 307

EP - 320

JO - HUMAN GENETICS

JF - HUMAN GENETICS

IS - 3

ER -

Parenti I, Teresa-Rodrigo ME, Pozojevic J, Ruiz Gil S, Bader I, Braunholz D et al. Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes. HUMAN GENETICS . 2017;136(3):307-320. doi: 10.1007/s00439-017-1758-y