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

(2019) GENETICS IN MEDICINE. 21(8). p.1761-1771
Author
Organization
Keywords
ABCA4-associated disease, missing heritability, non-coding, deep-intronic, AON, DEEP-INTRONIC VARIANTS, TRANSPORTER GENE ABCR, STARGARDT-DISEASE, ANTISENSE OLIGONUCLEOTIDES, RETINITIS-PIGMENTOSA, MUTATIONS, DYSTROPHY, PHENOTYPE, SPECTRUM, REVEALS

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Citation

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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, vol. 21, no. 8, 2019, pp. 1761–71.
APA
Bauwens, M., Garanto, A., Sangermano, R., Naessens, S., Weisschuh, N., De Zaeytijd, J., … De Baere, E. (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, 21(8), 1761–1771.
Chicago author-date
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 21 (8): 1761–71.
Chicago author-date (all authors)
Bauwens, Miriam, Alejandro Garanto, Riccardo Sangermano, Sarah Naessens, Nicole Weisschuh, Julie De Zaeytijd, Mubeen Khan, Françoise Sadler, Irina Balikova, Caroline Van Cauwenbergh, Toon Rosseel, Jim Bauwens, Kim De Leeneer, Sarah De Jaegere, Thalia Van Laethem, Meindert De Vries, Keren Carss, Gavin Arno, Ana Fakin, Andrew R Webster, Thomy JL de Ravel de L’Argentière, Yves Sznajer, Marnik Vuylsteke, Susanne Kohl, Bernd Wissinger, Timothy Cherry, Rob WJ Collin, Frans PM Cremers, Bart Leroy, and Elfride De Baere. 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 21 (8): 1761–1771.
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;21(8):1761–71.
IEEE
[1]
M. Bauwens 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, vol. 21, no. 8, pp. 1761–1771, 2019.
@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, Françoise 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'Argentière, 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},
  keywords     = {ABCA4-associated disease,missing heritability,non-coding,deep-intronic,AON,DEEP-INTRONIC VARIANTS,TRANSPORTER GENE ABCR,STARGARDT-DISEASE,ANTISENSE OLIGONUCLEOTIDES,RETINITIS-PIGMENTOSA,MUTATIONS,DYSTROPHY,PHENOTYPE,SPECTRUM,REVEALS},
  language     = {eng},
  number       = {8},
  pages        = {1761--1771},
  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},
  volume       = {21},
  year         = {2019},
}

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