Ghent University Academic Bibliography

Your filters: cql: author="Migeotte, Isabelle" or (type any "bookEditor issueEditor" and editor="Migeotte, Isabelle")

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- Journal Article
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Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

Daniela Matuozzo, Estelle Talouarn, Astrid Marchal, Peng Zhang, Jeremy Manry, Yoann Seeleuthner, Yu Zhang, Alexandre Bolze, Matthieu Chaldebas, Baptiste Milisavljevic, et al.

(2023) GENOME MEDICINE. 15(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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Human genetic and immunological determinants of critical COVID-19 pneumonia

Qian Zhang, Paul Bastard, Adem Karbuz, Adrian Gervais, Ahmad Abou Tayoun, Alessandro Aiuti, Alexandre Belot, Alexandre Bolze, Alexandre Gaudet, Anastasiia Bondarenko, et al.

(2022) NATURE. 603(7902). p.587-598
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More than meets the eye : expanding and reviewing the clinical and mutational spectrum of brittle cornea syndrome

Tibbe Dhooge, Tim Van Damme (UGent) , Delfien Syx (UGent) , Laura Muiño Mosquera (UGent) , Sheela Nampoothiri, Anil Radhakrishnan, Pelin O. Simsek-Kiper, Gulen E. Utine, Maryse Bonduelle, Isabelle Migeotte, et al.

(2021) HUMAN MUTATION. 42(6). p.711-730
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- Journal Article
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Distinct antibody repertoires against endemic human coronaviruses in children and adults

Taushif Khan, Mahbuba Rahman, Fatima Al Ali, Susie S. Y. Huang, Manar Ata, Qian Zhang, Paul Bastard, Zhiyong Liu, Emmanuelle Jouanguy, Vivien Beziat, et al.

(2021) JCI INSIGHT. 6(4).
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- Miscellaneous
More than meets the eye : expanding and reviewing the clinical and mutational spectrum of brittle cornea syndrome

Tibbe Dhooge, Tim Van Damme (UGent) , Delfien Syx (UGent) , Laura Muiño Mosquera, Sheela Nampoothiri, Anil Radhakrishnan, Pelin Simsek-Kiper, Gülen Eda Utine, Maryse Bonduelle, Isabelle Migeotte, et al.

(2020) Authorea.
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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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- Journal Article
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Inborn errors of type I IFN immunity in patients with life-threatening COVID-19

Qian Zhang, Paul Bastard, Zhiyong Liu, Jérémie Le Pen, Marcela Moncada-Velez, Jie Chen, Masato Ogishi, Ira K. D. Sabli, Stephanie Hodeib, Cecilia Korol, et al.

(2020) SCIENCE. 370(6515). p.422-+
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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

Academic Bibliography

Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

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

Human genetic and immunological determinants of critical COVID-19 pneumonia

More than meets the eye : expanding and reviewing the clinical and mutational spectrum of brittle cornea syndrome

Distinct antibody repertoires against endemic human coronaviruses in children and adults

More than meets the eye : expanding and reviewing the clinical and mutational spectrum of brittle cornea syndrome

A clinical scoring system for congenital contractural arachnodactyly

Inborn errors of type I IFN immunity in patients with life-threatening COVID-19

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

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