Ghent University Academic Bibliography

Journal Article
A1
open access

The pathogenic c.1171A>G (p.Arg391Gly) and c.2359G>A (p.Val787Ile) ABCC6 variants display incomplete penetrance causing pseudoxanthoma elasticum in a subset of individuals

Flora Szeri, Agnes Miko, Nastassia Navasiolava, Ambrus Kaposi, Shana Verschuere (UGent) , Beatrix Molnar, Qiaoli Li, Sharon F. Terry, Federica Boraldi, Jouni Uitto, et al.

(2022) HUMAN MUTATION. 43(12). p.1872-1881

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Journal Article
A1
open access

Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants : application of a points-based ACMG/AMP approach

M Thomassen, RLS Mesman, TVO Hansen, M Menendez, M Rossing, A Esteban-Sánchez, E Tudini, T Törngren, MT Parsons, IS Pedersen, et al.

(2022) HUMAN MUTATION. 43(12). p.1921-1944

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Journal Article
A1
open access

Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia

Maria Solaki, Britta Baumann, Peggy Reuter, Sten Andreasson, Isabelle Audo, Carmen Ayuso, Ghassan Balousha, Francesco Benedicenti, David Birch, Pierre Bitoun, et al.

(2022) HUMAN MUTATION. 43(7). p.832-858

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Kyphoscoliotic Ehlers‐Danlos syndrome caused by pathogenic variants in FKBP14 : further insights into the phenotypic spectrum and pathogenic mechanisms

Marlies Colman (UGent) , Robin Vroman (UGent) , Tibbe Dhooge, Zoë Malfait (UGent) , Sofie Symoens (UGent) , Biruté Burnyté, Sheela Nampoothiri, Ariana Kariminejad, Fransiska Malfait (UGent) and Delfien Syx (UGent)

(2022) HUMAN MUTATION. 43(12). p.1994-2009

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Journal Article
A1
open access

Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases

Nancy Vegas, Zeynep Demir, Christopher T. Gordon, Sylvain Breton, Vanessa L. Romanelli Tavares, Hugo Moisset, Roseli Zechi‐Ceide, Nancy M. Kokitsu‐Nakata, Yasuhiro Kido, Sandrine Marlin, et al.

(2022) HUMAN MUTATION. 43(5). p.582-594

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Journal Article
A1
open access

New variants and in silico analyses in GRK1 associated Oguchi disease

James A. Poulter, Molly S. C. Gravett, Rachel L. Taylor, Kaoru Fujinami, Julie De Zaeytijd (UGent) , James Bellingham, Atta Ur Rehman, Takaaki Hayashi, Mineo Kondo, Abdur Rehman, et al.

(2021) HUMAN MUTATION. 42(2). p.164-176

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Clinical and molecular characteristics of 168 probands and 65 relatives with a clinical presentation of classical Ehlers-Danlos syndrome

Marlies Colman (UGent) , Delfien Syx (UGent) , Inge De Wandele (UGent) , Tibbe Dhooge, Sofie Symoens (UGent) and Fransiska Malfait (UGent)

(2021) HUMAN MUTATION. 42(10). p.1294-1306

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More than meets the eye : expanding and reviewing the clinical and mutational spectrum of brittle cornea syndrome

Tibbe Dhooge, Tim Van Damme (UGent) , Delfien Syx (UGent) , Laura Muiño Mosquera (UGent) , Sheela Nampoothiri, Anil Radhakrishnan, Pelin O. Simsek-Kiper, Gulen E. Utine, Maryse Bonduelle, Isabelle Migeotte, et al.

(2021) HUMAN MUTATION. 42(6). p.711-730

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Journal Article
A1
open access

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 (UGent) , 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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Journal Article
A1
open access

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423 : genotype-phenotype study in neurofibromatosis type 1

Magdalena Koczkowska, Tom Callens, Yunjia Chen, Alicia Gomes, Alesha D. Hicks, Angela Sharp, Eric Johns, Kim Armfield Uhas, Linlea Armstrong, Katherine Armstrong Bosanko, et al.

(2020) HUMAN MUTATION. 41(1). p.299-315

Academic Bibliography

The pathogenic c.1171A>G (p.Arg391Gly) and c.2359G>A (p.Val787Ile) ABCC6 variants display incomplete penetrance causing pseudoxanthoma elasticum in a subset of individuals

Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants : application of a points-based ACMG/AMP approach

Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia

Kyphoscoliotic Ehlers‐Danlos syndrome caused by pathogenic variants in FKBP14 : further insights into the phenotypic spectrum and pathogenic mechanisms

Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases

New variants and in silico analyses in GRK1 associated Oguchi disease

Clinical and molecular characteristics of 168 probands and 65 relatives with a clinical presentation of classical Ehlers-Danlos syndrome

More than meets the eye : expanding and reviewing the clinical and mutational spectrum of brittle cornea syndrome

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

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423 : genotype-phenotype study in neurofibromatosis type 1

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