Estelle Colin
University of Angers
79 Papers
171 Citations
Estelle Colin is an academic researcher from University of Angers. The author has contributed to research in topics: Biology & Medicine. The author has an hindex of 22, co-authored 62 publications. Previous affiliations of Estelle Colin include French Institute of Health and Medical Research.
Chat about Author
Papers
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing
Claire Redin,Bénédicte Gérard,Julia Lauer,Yvan Herenger,Jean Muller,Angélique Quartier,Alice Masurel-Paulet,Marjolaine Willems,Gaetan Lesca,Salima El-Chehadeh,Stéphanie Le Gras,Serge Vicaire,Muriel Philipps,Michael Dumas,Véronique Geoffroy,Claire Feger,Nicolas Haumesser,Yves Alembik,Magalie Barth,Dominique Bonneau,Estelle Colin,Hélène Dollfus,Bérénice Doray,Marie-Ange Delrue,Valérie Drouin-Garraud,Elisabeth Flori,Mélanie Fradin,Christine Francannet,Alice Goldenberg,Serge Lumbroso,Michèle Mathieu-Dramard,Dominique Martin-Coignard,Didier Lacombe,Gilles Morin,Anne Polge,Sylvie Sukno,Christel Thauvin-Robinet,Julien Thevenon,Martine Doco-Fenzy,David Geneviève,Pierre Sarda,Patrick Edery,Bertrand Isidor,Bernard Jost,Laurence Olivier-Faivre,Jean-Louis Mandel,Amélie Piton +46 more
TL;DR: Targeted high-throughput sequencing of 217 genes in which mutations had been reported in patients with ID or autism as the major clinical concern appears relevant as a first intention test for the diagnosis of ID, but importantly will also contribute to a better understanding regarding the specific contribution of the many genes implicated in ID and autism.
269
KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes
Audrey Putoux,Sophie Thomas,Karlien L.M. Coene,Erica E. Davis,Yasemin Alanay,Gönöl Ogur,Elif Uz,Daniela Buzas,Céline Gomes,Sophie Patrier,Christopher L. Bennett,Nadia Elkhartoufi,Marie Hélène Saint Frison,Luc Rigonnot,N. Joye,Solenn Pruvost,Gülen Eda Utine,Koray Boduroğlu,Patrick Nitschke,L. Fertitta,Christel Thauvin-Robinet,Arnold Munnich,Valérie Cormier-Daire,Raoul C.M. Hennekam,Estelle Colin,Nurten A. Akarsu,Christine Bole-Feysot,Nicolas Cagnard,Alain Schmitt,Nicolas Goudin,Stanislas Lyonnet,Férechté Encha-Razavi,Jean Pierre Siffroi,Mark Winey,Nicholas Katsanis,Marie Gonzales,Michel Vekemans,Philip L. Beales,Tania Attié-Bitach +38 more
TL;DR: In this article, the role of KIF7 in human primary cilia, especially in the Hedgehog pathway through the regulation of GLI targets, and expand the clinical spectrum of ciliopathies.
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
Vincenzo Salpietro,Vincenzo Salpietro,Vincenzo Salpietro,Christine L Dixon,Hui Guo,Hui Guo,Oscar D. Bello,Jana Vandrovcova,Stephanie Efthymiou,Reza Maroofian,Gali Heimer,Lydie Burglen,Stéphanie Valence,Erin Torti,Moritz Hacke,Julia Rankin,Huma Tariq,Estelle Colin,Vincent Procaccio,Pasquale Striano,Pasquale Striano,Kshitij Mankad,Andreas Lieb,Sharon Chen,Laura Pisani,Conceição Bettencourt,Roope Männikkö,Andreea Manole,Alfredo Brusco,Enrico Grosso,Giovanni Battista Ferrero,Judith Armstrong-Moron,Sophie Gueden,Omer Bar-Yosef,Michal Tzadok,Kristin G. Monaghan,Teresa Santiago-Sim,Richard E. Person,Megan T. Cho,Rebecca Willaert,Yongjin Yoo,Jong-Hee Chae,Yingting Quan,Huidan Wu,Tianyun Wang,Tianyun Wang,Raphael Bernier,Kun Xia,Alyssa Blesson,Mahim Jain,M. Mahdi Motazacker,Bregje Jaeger,Amy L Schneider,Katja E. Boysen,Alison M. Muir,Candace T. Myers,Ralitza H. Gavrilova,Lauren Gunderson,Laura Schultz-Rogers,Eric W. Klee,David A. Dyment,Matthew Osmond,Matthew Osmond,Mara Parellada,Cloe Llorente,Javier González-Peñas,Angel Carracedo,Arie van Haeringen,Claudia A. L. Ruivenkamp,Caroline Nava,Delphine Héron,Rosaria Nardello,Michele Iacomino,Carlo Minetti,Carlo Minetti,Aldo Skabar,Antonella Fabretto,Miquel Raspall-Chaure,Michael Chez,Anne Tsai,Emily Fassi,Marwan Shinawi,John N. Constantino,Rita De Zorzi,Sara Fortuna,Fernando Kok,Boris Keren,Dominique Bonneau,Murim Choi,Bruria Ben-Zeev,Federico Zara,Heather C Mefford,Ingrid E. Scheffer,Jill Clayton-Smith,Jill Clayton-Smith,Alfons Macaya,James E. Rothman,James E. Rothman,Evan E. Eichler,Dimitri M. Kullmann,Henry Houlden +100 more
TL;DR: The results show that de-novo variants in GRIA2 can cause neurodevelopmental disorders, complementing evidence that other genetic causes of ID, ASD and DEE also disrupt glutamatergic synaptic transmission.
Loss-of-Function Mutations in WDR73 Are Responsible for Microcephaly and Steroid-Resistant Nephrotic Syndrome: Galloway-Mowat Syndrome
Estelle Colin,Evelyne Huynh Cong,Evelyne Huynh Cong,Géraldine Mollet,Géraldine Mollet,Agnès Guichet,Olivier Gribouval,Olivier Gribouval,Christelle Arrondel,Christelle Arrondel,Olivia Boyer,Olivia Boyer,Laurent Daniel,Marie-Claire Gubler,Marie-Claire Gubler,Zelal Ekinci,Michel Tsimaratos,Brigitte Chabrol,Nathalie Boddaert,Alain Verloes,Arnaud Chevrollier,Naïg Gueguen,Valérie Desquiret-Dumas,Marc Ferré,Vincent Procaccio,Laurence Richard,Benoît Funalot,Anne Moncla,Dominique Bonneau,Corinne Antignac,Corinne Antignac +30 more
TL;DR: It is shown that WDR73 was present in the brain and kidney and was located diffusely in the cytoplasm during interphase but relocalized to spindle poles and astral microtubules during mitosis, and plays a crucial role in the maintenance of cell architecture and cell survival.
125
Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy
Estelle Colin,Jens Daniel,Alban Ziegler,Jamal Wakim,Aurora Scrivo,Tobias B. Haack,Salim Khiati,Anne-Sophie Denommé,Patrizia Amati-Bonneau,Majida Charif,Vincent Procaccio,Pascal Reynier,Kyrieckos Aleck,Lorenzo D. Botto,Claudia Lena Herper,Charlotte Sophia Kaiser,Rima Nabbout,Sylvie Nguyen,José Antonio Mora-Lorca,Birgit Assmann,Stine Christ,Thomas Meitinger,Tim M. Strom,Holger Prokisch,Antonio Miranda-Vizuete,Georg F. Hoffmann,Guy Lenaers,Pascale Bomont,Eva Liebau,Dominique Bonneau +29 more
TL;DR: Clinical, biochemical, and experimental findings support the finding of UBA5 mutations as a pathophysiological cause for early-onset encephalopathies due to abnormal protein ufmylation.
102