Ghent University Academic Bibliography

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Your filters: cql: keyword exact "genetics" cql: author exact 801001748279 or (type exact bookEditor and editor exact 801001748279)

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Functional characterization of the first missense variant in CEP78, a founder allele associated with cone‐rod dystrophy, hearing loss and reduced male fertility

Giulia Ascari (UGent) , Frank Peelman (UGent) , Pietro Farinelli, Toon Rosseel (UGent) , Nina Lambrechts, Kirsten A. Wunderlich, Matias Wagner, Konstantinos Nikopoulos, Pernille Martens, Irina Balikova (UGent) , et al.

(2020) HUMAN MUTATION. 41(5). p.998-1011
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- Conference Paper
- C3
Regulatory mutations in the 5'UTR of NMNAT1, encoding the nuclear isoform of nicotinamide nucleotide adenylyltransferase 1, cause Leber Congenital Amaurosis

Frauke Coppieters (UGent) , Annelot Baert (UGent) , Caroline Van Cauwenbergh (UGent) , Miriam Bauwens (UGent) , Sarah De Jaegere (UGent) , Thomy De Ravel, Françoise Meire, Bart Leroy (UGent) and Elfride De Baere (UGent)

(2013) INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. 54(15). p.1313-1313
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- C3
Exome sequencing identifies a novel RP1 mutation in a Belgian family with autosomal dominant retinitis pigmentosa

Caroline Van Cauwenbergh (UGent) , Frauke Coppieters (UGent) , Sarah De Jaegere (UGent) , Julie De Zaeytijd (UGent) , Bart Leroy (UGent) and Elfride De Baere (UGent)

(2013) INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. 54(15). p.3355-3355
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- C3
A dual approach for comprehensive genetic testing of ABCA4 in Stargardt disease

Miriam Bauwens (UGent) , Caroline Van Cauwenbergh (UGent) , Sarah De Jaegere (UGent) , Steve Lefever (UGent) , Barbara D'haene (UGent) , Filip Pattyn (UGent) , Bart Leroy (UGent) , Elfride De Baere (UGent) and Frauke Coppieters (UGent)

(2013) INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. 54(15). p.3372-3372
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- Conference Paper
- C3
Regulatory mutations in the 5'UTR of NMNAT1, encoding the nuclear isoform of nicotinamide nucleotide adenylyltransferase 1, cause Leber Congenital Amaurosis

Frauke Coppieters (UGent) , Annelot Baert (UGent) , Caroline Van Cauwenbergh (UGent) , Miriam Bauwens (UGent) , Sarah De Jaegere (UGent) , Thomy de Ravel, Françoise Meire, Bart Leroy (UGent) and Elfride De Baere (UGent)

(2013) Belgian Society of Human Genetics, 13th Annual meeting, Abstracts.
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- Conference Paper
- C3
Exome sequencing identifies a novel RP1 mutation in a Belgian family with autosomal dominant retinitis pigmentosa

Caroline Van Cauwenbergh (UGent) , Frauke Coppieters (UGent) , Sarah De Jaegere (UGent) , Julie De Zaeytijd (UGent) , Bart Leroy (UGent) and Elfride De Baere (UGent)

(2013) Belgian Society of Human Genetics, 13th Annual meeting, Abstracts.
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- Conference Paper
- C3
A dual approach for comprehensive genetic testing of ABCA4 in Stargardt disease

Miriam Bauwens (UGent) , Caroline Van Cauwenbergh (UGent) , Sarah De Jaegere (UGent) , Steve Lefever (UGent) , Barbara D'haene (UGent) , Filip Pattyn (UGent) , Thomy de Ravel de l'Argentière, Bart Leroy (UGent) , Elfride De Baere (UGent) and Frauke Coppieters (UGent)

(2013) Belgian Society of Human Genetics, 13th Annual meeting, Abstracts.
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- Conference Paper
- C3
Regulatory mutations in the 5'UTR of NMNAT1, encoding the nuclear isoform of nicotinamide nucleotide adenylyltransferase 1, cause Leber Congenital Amaurosis

Frauke Coppieters (UGent) , Annelot Baert (UGent) , Miriam Bauwens (UGent) , Caroline Van Cauwenbergh (UGent) , Sarah De Jaegere (UGent) , Thomy de Ravel, Françoise Meire, Nouha Abdelmoula Bouayed, Lina Florentin-Arar, Bart Leroy (UGent) , et al.

(2012) American Society of Human Genetics, 62nd Annual meeting, Abstracts.
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- Conference Paper
- C3
Regulatory mutations in the 5'UTR of NMNAT1, encoding the nuclear isoform of nicotinamide nucleotide adenylyltransferase 1, cause Leber Congenital Amaurosis

Frauke Coppieters (UGent) , Annelot Baert (UGent) , Miriam Bauwens (UGent) , Caroline Van Cauwenbergh (UGent) , Sarah De Jaegere (UGent) , Thomy de Ravel, Françoise Meire, Nouha Abdelmoula Bouayed, Lina Florentin-Arar, Bart Leroy (UGent) , et al.

(2012) New Frontiers in Personal Genomics, Symposium abstracts.

Academic Bibliography

Functional characterization of the first missense variant in CEP78, a founder allele associated with cone‐rod dystrophy, hearing loss and reduced male fertility

Regulatory mutations in the 5'UTR of NMNAT1, encoding the nuclear isoform of nicotinamide nucleotide adenylyltransferase 1, cause Leber Congenital Amaurosis

Exome sequencing identifies a novel RP1 mutation in a Belgian family with autosomal dominant retinitis pigmentosa

A dual approach for comprehensive genetic testing of ABCA4 in Stargardt disease

Regulatory mutations in the 5'UTR of NMNAT1, encoding the nuclear isoform of nicotinamide nucleotide adenylyltransferase 1, cause Leber Congenital Amaurosis

Exome sequencing identifies a novel RP1 mutation in a Belgian family with autosomal dominant retinitis pigmentosa

A dual approach for comprehensive genetic testing of ABCA4 in Stargardt disease

Regulatory mutations in the 5'UTR of NMNAT1, encoding the nuclear isoform of nicotinamide nucleotide adenylyltransferase 1, cause Leber Congenital Amaurosis

Regulatory mutations in the 5'UTR of NMNAT1, encoding the nuclear isoform of nicotinamide nucleotide adenylyltransferase 1, cause Leber Congenital Amaurosis

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