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

I Parenti; ME Teresa-Rodrigo; J Pozojevic; SR Gil; I Bader; D Braunholz; NC Bramswig; C Gervasini; L Larizza; L Pfeiffer; F Ozkinay; F Ramos; B Reiz; O Rittinger; TM Strom; E Watrin; Kerstin Wendt; D Wieczorek; B Wollnik; C Baquero-Montoya; J Pie; MA Deardorff; G Gillessen-Kaesbach; FJ Kaiser

doi:10.1007/s00439-017-1758-y

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

I Parenti, ME Teresa-Rodrigo, J Pozojevic, SR Gil, I Bader, D Braunholz, NC Bramswig, C Gervasini, L Larizza, L Pfeiffer, F Ozkinay, F Ramos, B Reiz, O Rittinger, TM Strom, E Watrin, Kerstin Wendt, D Wieczorek, B Wollnik, C Baquero-MontoyaJ Pie, MA Deardorff, G Gillessen-Kaesbach, FJ Kaiser

Cell biology

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

49 Citations (Scopus)

Original language	Undefined/Unknown
Pages (from-to)	307-320
Number of pages	14
Journal	Human Genetics
Volume	136
Issue number	3
DOIs	https://doi.org/10.1007/s00439-017-1758-y
Publication status	Published - 2017

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10.1007/s00439-017-1758-y

http://hdl.handle.net/1765/95759

Cite this

Parenti, I., Teresa-Rodrigo, ME., Pozojevic, J., Gil, SR., 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., ... Kaiser, FJ. (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

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

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Parenti, I, Teresa-Rodrigo, ME, Pozojevic, J, Gil, SR, 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, Pie, 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

TY - JOUR

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

AU - Parenti, I

AU - Teresa-Rodrigo, ME

AU - Pozojevic, J

AU - Gil, SR

AU - Bader, I

AU - Braunholz, D

AU - Bramswig, NC

AU - Gervasini, C

AU - Larizza, L

AU - Pfeiffer, L

AU - Ozkinay, F

AU - Ramos, F

AU - Reiz, B

AU - Rittinger, O

AU - Strom, TM

AU - Watrin, E

AU - Wendt, Kerstin

AU - Wieczorek, D

AU - Wollnik, B

AU - Baquero-Montoya, C

AU - Pie, J

AU - Deardorff, MA

AU - Gillessen-Kaesbach, G

AU - Kaiser, FJ

PY - 2017

Y1 - 2017

U2 - 10.1007/s00439-017-1758-y

DO - 10.1007/s00439-017-1758-y

M3 - Article

SN - 0340-6717

VL - 136

SP - 307

EP - 320

JO - Human Genetics

JF - Human Genetics

IS - 3

ER -