Ghent University Academic Bibliography

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Your filters: cql: author="Layet, Valerie" or (type exact bookEditor and editor="Layet, Valerie")

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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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Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenital

Annie Laquerriere, Dana Jaber, Emanuela Abiusi, Jerome Maluenda, Dan Mejlachowicz, Alexandre Vivanti, Klaus Dieterich, Radka Stoeva, Loic Quevarec, Flora Nolent, et al.

(2022) JOURNAL OF MEDICAL GENETICS. 59(6). p.559-567
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Lessons learned from 40 novel PIGA patients and a review of the literature

Allan Bayat, Alexej Knaus, Manuela Pendziwiat, Alexandra Afenjar, Tahsin Stefan Barakat, Friedrich Bosch, Bert Callewaert (UGent) , Patrick Calvas, Berten Ceulemans, Nicolas Chassaing, et al.

(2020) EPILEPSIA. 61(6). p.1142-1155
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Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity

Smail Hadj-Rabia, Bert Callewaert (UGent) , Emmanuelle Bourrat, Marlies Kempers, Astrid S Plomp, Valerie Layet, Deborah Bartholdi, Marjolijn Renard (UGent) , Julie De Backer (UGent) , Fransiska Malfait (UGent) , et al.

(2013) ORPHANET JOURNAL OF RARE DISEASES. 8.

Academic Bibliography

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

Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenital

Lessons learned from 40 novel PIGA patients and a review of the literature

Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity

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