Ghent University Academic Bibliography

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Congenital hydrocephalus : new Mendelian mutations and evidence for oligogenic inheritance

Valerie Jacquemin, Nassim Versbraegen, Sarah Duerinckx, Annick Massart, Julie Soblet, Camille Perazzolo, Nicolas Deconinck (UGent) , Elise Brischoux-Boucher, Anne De Leener, Nicole Revencu, et al.

(2023) HUMAN GENOMICS. 17(1).
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Implementation of fetal clinical exome sequencing : comparing prospective and retrospective cohorts

Martina Marangoni, Guillaume Smits, Gilles Ceysens, Elena Costa, Robert Coulon, Caroline Daelemans, Caroline De Coninck, Sara Derisbourg, Kalina Gajewska, Giulia Garofalo, et al.

(2022) GENETICS IN MEDICINE. 24(2). p.344-363
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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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Severe congenital microcephaly with AP4M1 mutation, a case report

Sarah Duerinckx, Helene Verhelst (UGent) , Camille Perazzolo, Philippe David, Laurence Desmyter, Isabelle Pirson and Marc Abramowicz

(2017) BMC MEDICAL GENETICS. 18.
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A familial heterozygous null mutation of MET in autism spectrum disorder

Nelle Lambert, Vanessa Wermenbol, Bruno Pichon, Sandra Acosta, Jelle van den Ameele (UGent) , Camille Perazzolo, Diana Messina, Maria-Franca Musumeci, Barbara Dessars, Anne De Leener, et al.

(2014) AUTISM RESEARCH. 7(5). p.617-622
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FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly

Nicolas Simonis, Isabelle Migeotte, Nelle Lambert, Camille Perazzolo, Deepthi C de Silva, Boyan Dimitrov, Claudine Heinrichs, Sandra Janssens (UGent) , Bronwyn Kerr, Geert Mortier, et al.

(2013) JOURNAL OF MEDICAL GENETICS. 50(9). p.585-592
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Spondyloperipheral dysplasia as the mosaic form of platyspondylic lethal skeletal dyplasia torrance type in mother and fetus with the same COL2A1 mutation

Julie Désir, Marie Cassart, Catherine Donner, Paul Coucke (UGent) , Marc Abramowicz and Geert Mortier (UGent)

(2012) AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 158A(8). p.1948-1952
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TMEM126A mutation in a Moroccan family with autosomal recessive optic atrophy

Julie Désir, Frauke Coppieters (UGent) , Nicole van Regemorter, Elfride De Baere (UGent) , Marc Abramowicz and Monique Cordonnier

(2012) MOLECULAR VISION. 18(191). p.1849-1857
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The genetics of familial adenomatous polyposis (FAP) and MutYH-associated polyposis (MAP)

Kathleen Claes (UGent) , Karin Dahan, S Tejpar, Anne De Paepe (UGent) , Maryse Bonduelle, Marc Abramowicz, Christine Verellen, Denis Franchimont, Eric Van Cutsem and Alex Kartheuser

(2011) ACTA GASTRO-ENTEROLOGICA BELGICA. 74(3). p.421-426

Academic Bibliography

Congenital hydrocephalus : new Mendelian mutations and evidence for oligogenic inheritance

Implementation of fetal clinical exome sequencing : comparing prospective and retrospective cohorts

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

Severe congenital microcephaly with AP4M1 mutation, a case report

A familial heterozygous null mutation of MET in autism spectrum disorder

FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly

Spondyloperipheral dysplasia as the mosaic form of platyspondylic lethal skeletal dyplasia torrance type in mother and fetus with the same COL2A1 mutation

TMEM126A mutation in a Moroccan family with autosomal recessive optic atrophy

The genetics of familial adenomatous polyposis (FAP) and MutYH-associated polyposis (MAP)

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