Ghent University Academic Bibliography

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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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- Journal Article
- A1
- open access
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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- 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
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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- Journal Article
- A1
- open access
Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders

Madelyn A. Gillentine, Tianyun Wang, Kendra Hoekzema, Jill Rosenfeld, Pengfei Liu, Hui Guo, Chang N. Kim, Bert B. A. De Vries, Lisenka E. L. M. Vissers, Magnus Nordenskjold, et al.

(2021) GENOME MEDICINE. 13(1).
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Novel defects in collagen XII and VI expand the mixed myopathy/Ehlers-Danlos syndrome spectrum and lead to variant-specific alterations in the extracellular matrix

Sarah Delbaere (UGent) , Tibbe Dhooge, Delfien Syx (UGent) , Florence Petit, Nathalie Goemans, Anne Destrée, Olivier Vanakker (UGent) , Riet De Rycke (UGent) , Sofie Symoens (UGent) and Fransiska Malfait (UGent)

(2020) GENETICS IN MEDICINE. 22(1). p.112-123
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A clinical scoring system for congenital contractural arachnodactyly

Ilse Meerschaut, Shana De Coninck, Wouter Steyaert (UGent) , Angela Barnicoat, Allan Bayat, Francesco Benedicenti, Siren Berland, Edward M. Blair, Jeroen Breckpot, Anna de Burca, et al.

(2020) GENETICS IN MEDICINE. 22(1). p.124-131
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Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND)

Gabriella Vera, Arthur Sorlin, Geoffroy Delplancq, François Lecoquierre, Marie Brasseur-Daudruy, Florence Petit, Thomas Smol, Alban Ziegler, Dominique Bonneau, Estelle Colin, et al.

(2020) EUROPEAN JOURNAL OF MEDICAL GENETICS. 63(10).
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- Conference Paper
- C3
Heterozygous defects in collagen XII cause myopathic Ehlers-Danlos syndrome and lead to variant-specific alterations in the extracellular matrix

Sarah Delbaere (UGent) , Tibbe Dhooge, Delfien Syx (UGent) , Florence Petit, Nathalie Goemans, Anne Destree, Olivier Vanakker (UGent) , Riet De Rycke (UGent) , Sofie Symoens (UGent) and Fransiska Malfait (UGent)

(2019) Belgian Society for Human Genetics, 19th Annual meeting, Abstracts.
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- Journal Article
- A1
- open access
ACTB loss-of-function mutations result in a pleiotropic developmental disorder

Sara Cuvertino, Helen M Stuart, Kate E Chandler, Neil A Roberts, Ruth Armstrong, Laura Bernardini, Sanjeev Bhaskar, Bert Callewaert (UGent) , Jill Clayton-Smith, Cristina Hernando Davalillo, et al.

(2017) AMERICAN JOURNAL OF HUMAN GENETICS. 101(6). p.1021-1033

Academic Bibliography

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

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

Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenital

Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders

Novel defects in collagen XII and VI expand the mixed myopathy/Ehlers-Danlos syndrome spectrum and lead to variant-specific alterations in the extracellular matrix

A clinical scoring system for congenital contractural arachnodactyly

Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND)

Heterozygous defects in collagen XII cause myopathic Ehlers-Danlos syndrome and lead to variant-specific alterations in the extracellular matrix

ACTB loss-of-function mutations result in a pleiotropic developmental disorder

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