Scientific publications
Publications
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2024
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An ESHG–ESHRE survey on the current practice of expanded carrier screening in medically assisted reproduction
- Antonio Capalbo
- Guido de Wert
- Lidewij Henneman
- Georgia Kakourou
- Saria Mcheik
- Borut Peterlin
- Carla van El
- Rita Vassena
- Nathalie Vermeulen
- Stéphane Viville
- Francesca Forzano
Human Reproduction ; Volume: 39 ; Page: 1844-1855
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An atypical form of 60S ribosomal subunit in Diamond-Blackfan anemia linked to RPL17 variants
- Florence Fellmann
- Carol Saunders
- Marie-Françoise O’donohue
- David Reid
- Kelsey Mcfadden
- Nathalie Montel-Lehry
- Cong Yu
- Mingyan Fang
- Jianguo Zhang
- Beryl Royer-Bertrand
- Pietro Farinelli
- Narjesse Karboul
- Jason Willer
- Lorraine Fievet
- Zahurul Alam Bhuiyan
- Alissa L.W. Kleinhenz
- Julie Jadeau
- Joy Fulbright
- Carlo Rivolta
- Raffaele Renella
- ...
JCI Insight ; Volume: 9 ; Page: e172475
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Copy Number Variation and Epilepsy: State of the Art in the Era of High-Throughput Sequencing—A Multicenter Cohort Study
- Sarah Baer
- Audrey Schalk
- Marguerite Miguet
- Elise Schaefer
- Salima El Chehadeh
- Emmanuelle Ginglinger
- Anne de Saint-Martin
- Marie-Thérèse Abi-Wardé
- Vincent Laugel
- Yvan de Feraudy
- Lucas Gauer
- Edouard Hirsch
- Clotilde Boulay
- Claire Bansept
- Anamaria Bolocan
- Ismini Kitadinis
- Aurélie Gouronc
- Bénédicte Gerard
- Amélie Piton
- Sophie Scheidecker
Pediatric Neurology ; Volume: 159 ; Page: 16-25
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Dysregulated expression of cholesterol biosynthetic genes in Alzheimer's disease alters epigenomic signatures of hippocampal neurons
- Isabel Paiva
- Jonathan Seguin
- Iris Grgurina
- Akash Kumar Singh
- Brigitte Cosquer
- Damien Plassard
- Laura Tzeplaeff
- Stephanie Le Gras
- Ludovica Cotellessa
- Charles Decraene
- Johanne Gambi
- Rafael Alcala-Vida
- Muthusamy Eswaramoorthy
- Luc Buée
- Jean-Christophe Cassel
- Paolo Giacobini
- David Blum
- Karine Merienne
- Tapas Kundu
- Anne-Laurence Boutillier
Neurobiology of Disease ; Volume: 198 ; Page: 106538
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Recovery time reduction to decrease experimental duration (R2D2): A simple and universal method to accelerate NMR experiments
- Margot Sanchez
- Julien Pontabry
- Gaëtan Assemat
- Anthony Martinez
- Serge Akoka
Talanta ; Volume: 276 ; Page: 126157
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A genetic-epigenetic interplay at 1q21.1 locus underlies CHD1L-mediated vulnerability to primary progressive multiple sclerosis
- Majid Pahlevan Kakhki
- Antonino Giordano
- Chiara Starvaggi Cucuzza
- Tejaswi Venkata S. Badam
- Samudyata Samudyata
- Marianne Victoria Lemée
- Pernilla Stridh
- Asimenia Gkogka
- Klementy Shchetynsky
- Adil Harroud
- Alexandra Gyllenberg
- Yun Liu
- Sanjaykumar Boddul
- Tojo James
- Melissa Sorosina
- Massimo Filippi
- Federica Esposito
- Fredrik Wermeling
- Mika Gustafsson
- Patrizia Casaccia
- ...
Nature Communications ; Volume: 15 ; Page: 6419
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Biosynthesis of a clickable pyoverdine via in vivo enzyme engineering of an adenylation domain
- Hélène Puja
- Laurent Bianchetti
- Johan Revol-Tissot
- Nicolas Simon
- Anastasiia Shatalova
- Julian Nommé
- Sarah Fritsch
- Roland H Stote
- Gaëtan Mislin
- Noëlle Potier
- Annick Dejaegere
- Coraline Rigouin
Microbial Cell Factories ; Volume: 23 ; Page: 207
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Soft jamming of viral particles in nanopores
- Léa Chazot-Franguiadakis
- Joelle Eid
- Gwendoline Delecourt
- Pauline Kolbeck
- Saskia Brugère
- Bastien Molcrette
- Marius Socol
- Marylène Mougel
- Anna Salvetti
- Vincent Démery
- Jean-Christophe Lacroix
- Véronique Bennevault
- Philippe Guégan
- Martin Castelnovo
- Fabien Montel
Nature Communications ; Volume: 15 ; Page: 6180
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Classification of human actin pathological variants using C. elegans CRISPR-generated models
- Théo Hecquet
- Nadine Arbogast
- Delphine Suhner
- Anaïs Goetz
- Grégory Amann
- Selin Yürekli
- Fiona Marangoni
- Johannes N Greve
- Nataliya Di Donato
- Anne-Cécile Reymann
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Preclinical spheroid models identify BMX as a therapeutic target for metastatic MYCN nonamplified neuroblastoma
- Santhoshkumar Sundaramoorthy
- Daniele Filippo Colombo
- Rajendran Sanalkumar
- Liliane Broye
- Katia Balmas Bourloud
- Gaylor Boulay
- Luisa Cironi
- Ivan Stamenkovic
- Raffaele Renella
- Fabien Kuttler
- Gerardo Turcatti
- Miguel Rivera
- Annick Mühlethaler-Mottet
- Anaïs F Bardet
- Nicolò Riggi
JCI Insight ; Volume: 9 ; Page: e169647
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