Ghent University Academic Bibliography

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Your filters: cql: author="Thauvin-Robinet, Christel" or (type exact bookEditor and editor="Thauvin-Robinet, Christel")

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SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability

Elke Bogaert (UGent) , Aurore Garde, Thierry Gautier, Kathleen Rooney, Yannis Duffourd, Pontus LeBlanc (UGent) , Emma Van Reempts (UGent) , Frederic Tran Mau-Them, Ingrid M. Wentzensen, Kit Sing Au, et al.

(2023) AMERICAN JOURNAL OF HUMAN GENETICS. 110(5). p.790-808
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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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De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation

M. Felicia Basilicata, Ange-Line Bruel, Giuseppe Semplicio, Claudia Isabelle Keller Valsecchi, Tuğçe Aktaş, Yannis Duffourd, Tobias Rumpf, Jenny Morton, Iben Bache, Witold G. Szymanski, et al.

(2018) NATURE GENETICS. 50(10). p.1442-1451
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3q27.3 microdeletional syndrome: a recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psychosis with mood disorder

Julien Thevenon, Patrick Callier, Hélène Poquet, Iben Bache, Björn Menten (UGent) , Valérie Malan, Maria Luigia Cavaliere, Jean-Paul Girod, Christel Thauvin-Robinet, Salima El Chehadeh, et al.

(2014) JOURNAL OF MEDICAL GENETICS. 51(1). p.21-27
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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

Academic Bibliography

SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability

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

De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation

3q27.3 microdeletional syndrome: a recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psychosis with mood disorder

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

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