Ghent University Academic Bibliography

Your filters: cql: author="Maystadt, Isabelle" or (type any "bookEditor issueEditor" and editor="Maystadt, Isabelle")

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- Miscellaneous
RPE65 variant p.(E519K) causes a novel dominant adult-onset maculopathy in 83 affected individuals

Eline Van Vooren (UGent) , Filip Van Den Broeck (UGent) , Quinten Mahieu (UGent) , Eline Geens (UGent) , Mattias Van Heetvelde (UGent) , Marieke De Bruyne (UGent) , Stijn Van de Sompele (UGent) , Sheetal Uppal, Eugenia Poliakov, Claire-Marie Dhaenens, et al.

(2025) Research Square.
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- A1
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RPE65 variant p.(E519K) causes a novel dominant adult-onset maculopathy in 83 affected individuals

Eline Van Vooren (UGent) , Filip Van Den Broeck (UGent) , Quinten Mahieu (UGent) , Eline Geens (UGent) , Mattias Van Heetvelde (UGent) , Marieke De Bruyne (UGent) , Stijn Van de Sompele (UGent) , Sheetal Uppal, Eugenia Poliakov, Claire-Marie Dhaenens, et al.

(2025) INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. 66(12).
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Aarskog-Scott syndrome : a clinical study based on a large series of 111 male patients with a pathogenic variant in FGD1 and management recommendations

Mederic Jeanne, Nathalie Ronce, Solene Remize, Stephanie Arpin, Genevieve Baujat, Sylvain Breton, Florence Petit, Clemence Vanlerberghe, Anne Coeslier-Dieux, Sylvie Manouvrier-Hanu, et al.

(2025) JOURNAL OF MEDICAL GENETICS. 62(4). p.258-267
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A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

Anne-Sophie Denommé-Pichon, Leslie Matalonga, Elke de Boer, Adam Jackson, Elisa Benetti, Siddharth Banka, Ange-Line Bruel, Andrea Ciolfi, Jill Clayton-Smith, Bruno Dallapiccola, et al.

(2023) GENETICS IN MEDICINE. 25(4).
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Twist exome capture allows for lower average sequence coverage in clinical exome sequencing

Burcu Yaldiz, Erdi Kucuk, Juliet Hampstead, Tom Hofste, Rolph Pfundt, Jordi Corominas Galbany, Tuula Rinne, Helger G. Yntema, Alexander Hoischen, Marcel Nelen, et al.

(2023) HUMAN GENOMICS. 17(1).
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IGF1 haploinsufficiency in children with short stature : a case series

Willem Staels (UGent) , Nuriya Alev, Isabelle Maystadt, Olimpia Chivu, Jean De Schepper (UGent) , Claudine Heinrichs and Dominique Beckers

(2021) EUROPEAN JOURNAL OF ENDOCRINOLOGY. 185(2). p.323-332
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Phenotypes and genotypes in non‐consanguineous and consanguineous primary microcephaly : high incidence of epilepsy

Sarah Duerinckx, Julie Désir, Camille Perazzolo, Cindy Badoer, Valérie Jacquemin, Julie Soblet, Isabelle Maystadt, Yusuf Tunca, Bettina Blaumeiser, Berten Ceulemans, et al.

(2021) MOLECULAR GENETICS & GENOMIC MEDICINE. 9(9).
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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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Genotype-phenotype correlation in NF1 : evidence for a more severe phenotype associated with missense mutations affecting NF1 codons 844–848

Magdalena Koczkowska, Yunjia Chen, Tom Callens, Alicia Gomes, Angela Sharp, Sherrell Johnson, Meng-Chang Hsiao, Zhenbin Chen, Meena Balasubramanian, Christopher P Barnett, et al.

(2018) AMERICAN JOURNAL OF HUMAN GENETICS. 102(1). p.69-87
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Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins

Przemyslaw Szafranski, Tomasz Gambin, Avinash V Dharmadhikari, Kadir Caner Akdemir, Shalini N Jhangiani, Jennifer Schuette, Nihal Godiwala, Svetlana A Yatsenko, Jessica Sebastian, Suneeta Madan-Khetarpal, et al.

(2016) HUMAN GENETICS. 135(5). p.569-586

Academic Bibliography

RPE65 variant p.(E519K) causes a novel dominant adult-onset maculopathy in 83 affected individuals

RPE65 variant p.(E519K) causes a novel dominant adult-onset maculopathy in 83 affected individuals

Aarskog-Scott syndrome : a clinical study based on a large series of 111 male patients with a pathogenic variant in FGD1 and management recommendations

A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

Twist exome capture allows for lower average sequence coverage in clinical exome sequencing

IGF1 haploinsufficiency in children with short stature : a case series

Phenotypes and genotypes in non‐consanguineous and consanguineous primary microcephaly : high incidence of epilepsy

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

Genotype-phenotype correlation in NF1 : evidence for a more severe phenotype associated with missense mutations affecting NF1 codons 844–848

Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins

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