Ghent University Academic Bibliography

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Your filters: cql: author="AMIEL, J*" or (type exact bookEditor and editor="AMIEL, J*")

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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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MYT1L-associated neurodevelopmental disorder : description of 40 new cases and literature review of clinical and molecular aspects

Juliette Coursimault, Anne-Marie Guerrot, Michelle M. Morrow, Catherine Schramm, Francisca Millan Zamora, Anita Shanmugham, Shuxi Liu, Fanggeng Zou, Frederic Bilan, Gwenael Le Guyader, et al.

(2022) HUMAN GENETICS. 141(1). p.65-80
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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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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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In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome

Virgini Carmignac, Julien Thevenon, Lesly Adès, Bert Callewaert (UGent) , Sophie Julia, Christel Thauvin-Robinet, Lucie Gueneau, Jean-Benoit Courcet, Estelle Lopez, Katherine Holman, et al.

(2012) AMERICAN JOURNAL OF HUMAN GENETICS. 91(5). p.950-957
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Congenital pontocerebellar atrophy and telencephalic defects in three siblings: a new subtype

Juliaan Leroy (UGent) , G LYON, C FALLET, J AMIEL, Claudine De Praeter (UGent) , Caroline Van den broecke and Piet Vanhaesebrouck (UGent)

(2007) ACTA NEUROPATHOLOGICA. 114(4). p.387-399

Academic Bibliography

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

MYT1L-associated neurodevelopmental disorder : description of 40 new cases and literature review of clinical and molecular aspects

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

In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome

Congenital pontocerebellar atrophy and telencephalic defects in three siblings: a new subtype

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