Y. Fichou

J. Chelly, B. Girard, J. Nectoux, 2009, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Liquid-liquid phase separation of tau driven by hydrophobic interaction facilitates fibrillization of tau

K. Kosik, G. Bazan, Songi Han, 2020, bioRxiv.

A polymer surfactant corona dynamically replaces water in solvent-free protein liquids and ensures macromolecular flexibility and activity.

S. Mann, C. Jackson, G. Zaccai, 2012, Journal of the American Chemical Society.

Cell cloning-based transcriptome analysis in Rett patients: relevance to the pathogenesis of Rett syndrome of new human MeCP2 target genes

J. Chelly, J. Nectoux, Y. Fichou, 2010, Journal of cellular and molecular medicine.

First report of Rhnull individuals in the Indian population and characterization of the underlying molecular mechanisms

C. Férec, Y. Fichou, S. Kulkarni, 2017, Transfusion.

The experience of extended blood group genotyping by next‐generation sequencing (NGS): investigation of patients with sickle‐cell disease

C. Férec, Y. Fichou, C. Le Maréchal, 2016, Vox sanguinis.

Molecular and serological analysis of the D variant in the Chinese population and identification of seven novel RHD alleles

Y. Fichou, G. Luo, Ling Wei, 2022, Transfusion.

Comprehensive Molecular Analysis of Serologically D-Negative and Weak/Partial D Phenotype in Thai Blood Donors

C. Férec, Y. Fichou, P. Nuchnoi, 2019, Transfusion Medicine and Hemotherapy.

Comprehensive phenotypic and molecular investigation of RhD and RhCE variants in Moroccan blood donors.

C. Férec, Y. Fichou, M. Benajiba, 2019, Blood transfusion = Trasfusione del sangue.

Distribution of Rhesus blood group antigens and weak D alleles in the population of Albania.

C. Férec, Y. Fichou, G. Zoraqi, 2014, Blood transfusion = Trasfusione del sangue.

Establishment of a medium‐throughput approach for the genotyping of RHD variants and report of nine novel rare alleles

I. Dupont, C. Férec, Y. Fichou, 2013, Transfusion.

High-resolution Neutron Spectroscopy to Study Picosecond-nanosecond Dynamics of Proteins and Hydration Water.

G. Schirò, M. Weik, Y. Fichou, 2022, Journal of visualized experiments : JoVE.

Splicing Outcomes of 5′ Splice Site GT>GC Variants That Generate Wild-Type Transcripts Differ Significantly Between Full-Length and Minigene Splicing Assays

D. Cooper, Z. Liao, Wen‐Bin Zou, 2021, Frontiers in Genetics.

First estimate of the scale of canonical 5′ splice site GT>GC variants capable of generating wild‐type transcripts

D. Cooper, M. Mort, Z. Liao, 2019, Human mutation.

Gel purification of genomic DNA removes contaminating small DNA fragments interfering with polymerase chain reaction analysis of small fragment homologous replacement.

C. Férec, D. de Semir, Y. Fichou, 2006, Oligonucleotides.

NGS and blood group systems: State of the art and perspectives.

Y. Fichou, C. Férec, 2017, Transfusion clinique et biologique : journal de la Societe francaise de transfusion sanguine.

The potential of oligonucleotides for therapeutic applications.

C. Férec, Y. Fichou, Yann Fichou, 2006, Trends in biotechnology.

A convenient qualitative and quantitative method to investigate RHD‐RHCE hybrid genes

I. Dupont, C. Férec, Y. Fichou, 2013, Transfusion.

Structures of Pathological and Functional Amyloids and Prions, a Solid-State NMR Perspective

B. Habenstein, B. Bardiaux, A. Grélard, 2021, Frontiers in Molecular Neuroscience.

Defining Blood Group Gene Reference Alleles by Long-Read Sequencing: Proof of Concept in the ACKR1 Gene Encoding the Duffy Antigens

C. Férec, Y. Fichou, C. Tournamille, 2019, Transfusion Medicine and Hemotherapy.

SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing

A. Spurdle, C. Houdayer, D. Vidaud, 2022, Human mutation.

Assessment of branch point prediction tools to predict physiological branch points and their alteration by variants

A. Spurdle, N. Sevenet, C. Houdayer, 2019, BMC Genomics.

CDKL5 MUTATIONS IN BOYS WITH SEVERE ENCEPHALOPATHY AND EARLY-ONSET INTRACTABLE EPILEPSY

J. Chelly, B. Girard, J. Nectoux, 2009, Neurology.

Electrostatically driven complex coacervation and amyloid aggregation of tau are independent processes with overlapping conditions.

Songi Han, Y. Fichou, Yanxian Lin, 2020, ACS chemical neuroscience.

Protein shapes at the core of chronic traumatic encephalopathy

Songi Han, Y. Fichou, 2019, Nature Structural & Molecular Biology.

From genetic variability to phenotypic expression of blood group systems.

Y. Fichou, C. Férec, L. Raud, 2017, Transfusion clinique et biologique : journal de la Societe francaise de transfusion sanguine.

Extensive functional analyses of RHD splice site variants: Insights into the potential role of splicing in the physiology of Rh

C. Férec, Y. Fichou, G. Le Gac, 2015, Transfusion.

The first missense mutation causing Rett syndrome specifically affecting the MeCP2_e1 isoform

J. Chelly, B. Girard, J. Nectoux, 2009, neurogenetics.

Functional analysis of novel RHD variants: splicing disruption is likely to be a common mechanism of variant D phenotype

C. Férec, I. Callebaut, Y. Fichou, 2019, Transfusion.

Missense RHD single nucleotide variants induce weakened D antigen expression by altering splicing and/or protein expression

C. Férec, I. Callebaut, Y. Fichou, 2021, Transfusion.

Mutations in the amiloride‐sensitive epithelial sodium channel in patients with cystic fibrosis‐like disease

P. Lebecque, A. Azad, M. Schwartz, 2009, Human mutation.

Next‐generation sequencing is a credible strategy for blood group genotyping

C. Férec, Y. Fichou, M. Audrézet, 2014, British journal of haematology.

Interaction of Dystrophin Rod Domain with Membrane Phospholipids

C. Rondeau-Mouro, E. Le Rumeur, Y. Fichou, 2003, The Journal of Biological Chemistry.

The elusive tau molecular structures: can we translate the recent breakthroughs into new targets for intervention?

Luc Buée, Caroline Smet-Nocca, Joris Winderickx, 2019, Acta Neuropathologica Communications.

The novel c.634+4A>G splicing variant in RHCE results in weak C and e antigen expression in a pregnant woman originated from Japan

C. Férec, Y. Fichou, C. Le Maréchal, 2022, Transfusion.

Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort

A. Spurdle, B. Wappenschmidt, N. Sevenet, 2019, Nucleic acids research.

Biallelic variants in MAATS1 encoding CFAP91, a calmodulin-associated and spoke-associated complex protein, cause severe astheno-teratozoospermia and male infertility

N. Thierry-Mieg, P. Ray, Y. Fichou, 2020, Journal of Medical Genetics.

Molecular Dynamics Simulations of a Powder Model of the Intrinsically Disordered Protein Tau.

Douglas J. Tobias, Matthias Heyden, D. Tobias, 2015, The journal of physical chemistry. B.

No Association Between CEL-HYB Hybrid Allele and Chronic Pancreatitis in Asian Populations.

D. Cooper, S. Bhaskar, Z. Liao, 2016, Gastroenterology.

Molecular basis of weak D expression in the Indian population and report of a novel, predominant variant RHD allele

C. Férec, Y. Fichou, S. Kulkarni, 2018, Transfusion.

Insights into RHCE Molecular Analysis in Samples with Partial D Variants: the Experience of Western France

C. Férec, Y. Fichou, C. Le Maréchal, 2015, Transfusion Medicine and Hemotherapy.

Nation‐wide investigation of RHD variants in Thai blood donors: Impact for molecular diagnostics

C. Férec, Y. Fichou, P. Nuchnoi, 2020, Transfusion.

Variant screening of the RHD gene in a large cohort of subjects with D phenotype ambiguity: report of 17 novel rare alleles

I. Dupont, C. Férec, Y. Fichou, 2012, Transfusion.

The RHD*weak D type 4.0 allele is predominantly but not exclusively cis‐associated with the altered RHCE*ce(c.48C, c.105T, c.733G, c.744C, c.1025T) allele in the French population

C. Férec, Y. Fichou, C. Maréchal, 2014, Transfusion medicine.

Molecular RHD-RHCE Analysis by Multiplex PCR of Short Fluorescent Fragments.

C. Férec, Y. Fichou, 2015, Methods in molecular biology.

Weak D type 1, 2 and 3 subtype alleles are rare in the Western French population

C. Férec, Y. Fichou, C. Le Maréchal, 2019, Transfusion medicine.

RHD-Positive Alleles among D- C/E+ Individuals from India

C. Férec, G. Mishra, Y. Fichou, 2018, Transfusion Medicine and Hemotherapy.

Small deletions within the RHD coding sequence: a report of two novel mutational events and a survey of the underlying pathophysiologic mechanisms

D. Cooper, I. Dupont, C. Férec, 2013, Transfusion.

Estimating the age of CFTR mutations predominantly found in Brittany (Western France).

E. Génin, C. Férec, Y. Fichou, 2008, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

Spatially Heterogeneous Surface Water Diffusivity around Structured Protein Surfaces at Equilibrium.

F. Dahlquist, M. Heyden, Songi Han, 2017, Journal of the American Chemical Society.

Estimating the age of p.(Phe508del) with family studies of geographically distinct European populations and the early spread of cystic fibrosis

E. Génin, M. Macek, C. Férec, 2018, European Journal of Human Genetics.

Neutrons describe ectoine effects on water H-bonding and hydration around a soluble protein and a cell membrane

D. Oesterhelt, A. Martel, G. Zaccai, 2016, Scientific Reports.

Annexin V is directly involved in cystic fibrosis transmembrane conductance regulator's chloride channel function.

P. Trouvé, C. Férec, Y. Fichou, 2007, Biochimica et biophysica acta.

Hydration water mobility is enhanced around tau amyloid fibers

Douglas J. Tobias, Estelle Mossou, Michaela Zamponi, 2015, Proceedings of the National Academy of Sciences.

Conformation-based assay of tau protein aggregation.

T. Keller, Songi Han, Y. Fichou, 2017, Methods in cell biology.

Patients with Asian-type DEL can safely be transfused with RhD-positive blood

Chunquan Ou, W. Flegel, Y. Fichou, 2023, Blood.

Mutation in the SLC9A6 gene is not a frequent cause of sporadic Angelman-like syndrome

Juliette Nectoux, Nadia Bahi-Buisson, Jamel Chelly, 2009, European Journal of Human Genetics.

Molecular characterization of rare D--/D-- variants in individuals of Indian origin.

C. Férec, G. Mishra, Y. Fichou, 2020, Blood transfusion = Trasfusione del sangue.

Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort

A. Spurdle, B. Wappenschmidt, N. Sevenet, 2018, Nucleic acids research.

Protein shapes at the core of chronic traumatic encephalopathy

Songi Han, Y. Fichou, 2019, Nature Structural & Molecular Biology.

Cofactors are essential constituents of stable and seeding-active tau fibrils

J. Freed, K. Kosik, T. Keller, 2018, Proceedings of the National Academy of Sciences.

Combining full-length gene assay and SpliceAI to interpret the splicing impact of all possible SPINK1 coding variants

Wen‐Bin Zou, Jin-Huan Lin, C. Férec, 2023, medRxiv.

Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort

A. Spurdle, B. Wappenschmidt, N. Sevenet, 2018, Nucleic Acids Research.