Ghent University Academic Bibliography

Your filters: cql: author="Van Schil, Kristof" or (type any "bookEditor issueEditor" and editor="Van Schil, Kristof")

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Uncovering the genetic architecture of inherited retinal disease in a consanguineous Iranian cohort

Lieselot Vincke (UGent) , Kristof Van Schil, Hamid Ahmadieh, Afrooz Moghaddasi, Hamideh Sabbaghi, Narsis Daftarian, Tahmineh Motevasseli, Leila Javanparast Sheykhani, Mohammadreza Dehghani, Mohammad Yahya Vahidi Mehrjardi, et al.

(2025) NPJ GENOMIC MEDICINE. 10(1).
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- C3
Biallelic loss-of-function variants in ZNF142 are associated with a robust DNA methylation signature affecting a limited number of genomic loci

Mathis Hildonen, Andrea Ciolfi, Marco Ferilli, Camilla Cappelletti, Al Alam Chadi, David Amor, Tahsin Stefan Barakat, Valerie Benoit, Ohad Birk, Bert Callewaert (UGent) , et al.

(2025) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 33(Supplement 1). p.953-953
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An integrated approach to uncover the genetic architecture of inherited blindness in a consanguineous Iranian cohort

Lieselot Vincke (UGent) , Kristof Van Schil (UGent) , Marieke De Bruyne (UGent) , Quinten Mahieu (UGent) , Marta del Pozo Valero (UGent) , Mattias Van Heetvelde (UGent) , Toon Rosseel (UGent) , Ebrahim Al-Hajj, Astrid Rombaut, Sarah Van Malderen, et al.

(2024) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 32(Supplement 2). p.1327-1328
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Negative molecular diagnostics in non-syndromic hearing loss : what next?

Thomas Clabout, Laurence Maes (UGent) , Frederic Acke (UGent) , Wim Wuyts, Kristof Van Schil, Paul Coucke (UGent) , Sandra Janssens (UGent) and Els De Leenheer (UGent)

(2023) GENES. 14(1).
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Deciphering the genetic architecture of inherited retinal diseases in the Iranian population by integrated exome sequencing

Miriam Bauwens (UGent) , Kristof Van Schil (UGent) , Marieke De Bruyne (UGent) , Mattias Van Heetvelde (UGent) , Quinten Mahieu (UGent) , Toon Rosseel (UGent) , Ebrahim Al-Hajj, Sarah Van Malderen, Fatemeh Suri and Elfride De Baere (UGent)

(2023) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 31(Supplement 1). p.367-367
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Loss of function of RIMS2 causes a syndromic congenital cone-rod synaptic disease with neurodevelopmental and pancreatic involvement

Sabrina Mechaussier, Basamat Almoallem Mohammed (UGent) , Christina Zeitz, Kristof Van Schil (UGent) , Laila Jeddawi, Jo Van Dorpe (UGent) , Alfredo Dueñas Rey, Christel Condroyer, Olivier Pelle, Michel Polak, et al.

(2020) AMERICAN JOURNAL OF HUMAN GENETICS. 106(6). p.859-871
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Exome-based RetNet panel analysis in a Belgian cohort with inherited retinal disease (IRD) expands the molecular and phenotypic spectrum of recently identified IRD genes

Stijn Van de Sompele (UGent) , Kristof Van Schil (UGent) , Caroline Van Cauwenbergh, Toon Rosseel (UGent) , Sarah De Jaegere (UGent) , Thalia Van Laethem (UGent) , Irina Balikova (UGent) , Bart Leroy (UGent) , Frauke Coppieters (UGent) and Elfride De Baere (UGent)

(2019) EUROPEAN JOURNAL OF HUMAN GENETICS. 27(1). p.54-54
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- Miscellaneous
- open access
Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copynumber variations (vol 20, pg 202, 2018)

Kristof Van Schil (UGent) , Sarah Naessens (UGent) , Stijn Van de Sompele (UGent) , Marjolein Carron, Alexander Aslanidis, Caroline Van Cauwenbergh, Anja K. Mayer, Mattias Van Heetvelde (UGent) , Miriam Bauwens (UGent) , Hannah Verdin (UGent) , et al.

(2019) GENETICS IN MEDICINE. 21(8). p.1898-1898
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Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease

Stijn Van de Sompele (UGent) , Claire Smith, Marianthi Karali, Marta Corton, Kristof Van Schil (UGent) , Frank Peelman (UGent) , Timothy Cherry, Toon Rosseel (UGent) , Hannah Verdin (UGent) , Julien Derolez, et al.

(2019) GENETICS IN MEDICINE. 21(6). p.1319-1329
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Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease (vol 21, pg 1319, 2019)

Stijn Van de Sompele (UGent) , Claire Smith, Marianthi Karali, Marta Corton, Kristof Van Schil (UGent) , Frank Peelman (UGent) , Timothy Cherry, Toon Rosseel (UGent) , Hannah Verdin (UGent) , Julien Derolez, et al.

(2019) GENETICS IN MEDICINE. 21(4).

Academic Bibliography

Uncovering the genetic architecture of inherited retinal disease in a consanguineous Iranian cohort

Biallelic loss-of-function variants in ZNF142 are associated with a robust DNA methylation signature affecting a limited number of genomic loci

An integrated approach to uncover the genetic architecture of inherited blindness in a consanguineous Iranian cohort

Negative molecular diagnostics in non-syndromic hearing loss : what next?

Deciphering the genetic architecture of inherited retinal diseases in the Iranian population by integrated exome sequencing

Loss of function of RIMS2 causes a syndromic congenital cone-rod synaptic disease with neurodevelopmental and pancreatic involvement

Exome-based RetNet panel analysis in a Belgian cohort with inherited retinal disease (IRD) expands the molecular and phenotypic spectrum of recently identified IRD genes

Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copynumber variations (vol 20, pg 202, 2018)

Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease

Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease (vol 21, pg 1319, 2019)

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