Advanced search

ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders : novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants

Author
Organization

Citation

Please use this url to cite or link to this publication:

Chicago
Bauwens, Miriam, Alejandro Garanto, Riccardo Sangermano, Sarah Naessens, Nicole Weisschuh, Julie De Zaeytijd, Mubeen Khan, et al. 2019. “ABCA4-associated Disease as a Model for Missing Heritability in Autosomal Recessive Disorders : Novel Noncoding Splice, Cis-regulatory, Structural, and Recurrent Hypomorphic Variants.” Genetics in Medicine.
APA
Bauwens, M., Garanto, A., Sangermano, R., Naessens, S., Weisschuh, N., De Zaeytijd, J., Khan, M., et al. (2019). ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders : novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants. GENETICS IN MEDICINE.
Vancouver
1.
Bauwens M, Garanto A, Sangermano R, Naessens S, Weisschuh N, De Zaeytijd J, et al. ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders : novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants. GENETICS IN MEDICINE. 2019;
MLA
Bauwens, Miriam et al. “ABCA4-associated Disease as a Model for Missing Heritability in Autosomal Recessive Disorders : Novel Noncoding Splice, Cis-regulatory, Structural, and Recurrent Hypomorphic Variants.” GENETICS IN MEDICINE (2019): n. pag. Print.
@article{8594151,
  author       = {Bauwens, Miriam and Garanto, Alejandro and Sangermano, Riccardo and Naessens, Sarah and Weisschuh, Nicole and De Zaeytijd, Julie and Khan, Mubeen and Sadler, Fran\c{c}oise  and Balikova, Irina and Van Cauwenbergh, Caroline and Rosseel, Toon and Bauwens, Jim and De Leeneer, Kim and De Jaegere, Sarah and Van Laethem, Thalia and De Vries, Meindert and Carss, Keren and Arno, Gavin and Fakin, Ana and Webster, Andrew R  and de Ravel de L'Argenti{\`e}re, Thomy JL and Sznajer, Yves and Vuylsteke, Marnik and Kohl, Susanne and Wissinger, Bernd and Cherry, Timothy and Collin, Rob WJ and Cremers, Frans PM and Leroy, Bart and De Baere, Elfride},
  issn         = {1098-3600},
  journal      = {GENETICS IN MEDICINE},
  language     = {eng},
  title        = {ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders : novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants},
  url          = {http://dx.doi.org/10.1038/s41436-018-0420-y},
  year         = {2019},
}

Altmetric
View in Altmetric