Ghent University Academic Bibliography

Journal Article
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.

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Journal Article
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. p.1-27

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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 (UGent) , 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 (UGent) , 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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ZMYND11-related syndromic intellectual disability : 16 patients delineating and expanding the phenotypic spectrum

Thabo M. Yates, Morgan Drucker, Angela Barnicoat, Karen Low, Erica H. Gerkes, Andrew E. Fry, Michael J. Parker, Mary O'Driscoll, Perrine Charles, Helen Cox, et al.

(2020) HUMAN MUTATION. 41(5). p.1042-1050

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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

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Journal Article
A1
open access

Identification of splice defects due to noncanonical splice site or deep‐intronic variants in ABCA4

Zeinab Fadaie, Mubeen Khan, Marta Del Pozo‐Valero, Stéphanie S. Cornelis, Carmen Ayuso, Frans P. M. Cremers, Susanne Roosing, Rando Allikmets, Miriam Bauwens (UGent) , Mohammad Ghofrani, et al.

(2019) HUMAN MUTATION. 40(12). p.2365-2376

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Journal Article
A1
open access

The N‐terminal p.(Ser38Cys) TIMP3 mutation underlying Sorsby fundus dystrophy is a founder mutation disrupting an intramolecular disulfide bond

Sarah Naessens, Julie De Zaeytijd (UGent) , Delfien Syx (UGent) , Roosmarijn Vandenbroucke (UGent) , Frédéric Smeets, Caroline Van Cauwenbergh (UGent) , Bart Leroy (UGent) , Frank Peelman (UGent) and Frauke Coppieters (UGent)

(2019) HUMAN MUTATION. 40(5). p.539-551

Academic Bibliography

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

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

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

ZMYND11-related syndromic intellectual disability : 16 patients delineating and expanding the phenotypic spectrum

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

Identification of splice defects due to noncanonical splice site or deep‐intronic variants in ABCA4

The N‐terminal p.(Ser38Cys) TIMP3 mutation underlying Sorsby fundus dystrophy is a founder mutation disrupting an intramolecular disulfide bond

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