Publications and ressources

Identification of Similar Patients Through Medical Concept Embedding from Electronic Health Records: A Feasibility Study for Rare Disease Diagnosis

Marc Vincent, Nicolas Garcelon, Sophie Saunier

Source : Stud Health Technol Inform

2021 May 27

Pmid : 34042646

Disruption of pathways regulated by Integrator complex in Galloway-Mowat syndrome due to WDR73 mutations.

Frances Tilley

Source : Sci Rep

2021 Mar 8

Pmid : 33686175

Disruption of pathways regulated by Integrator complex in Galloway-Mowat syndrome due to WDR73 mutations.

Source : Sci Rep

2021 Mar 8

Pmid : 33686175

Bi-allelic pathogenic variations in DNAJB11 cause Ivemark II syndrome, a renal-hepatic-pancreatic dysplasia.

Christelle Arrondel, Tania Attié-Bitach, Corinne Antignac, Sophie Saunier, Laurence Heidet

Source : Kidney Int

2021 Feb 1

Pmid : 33129895

Generation of an induced pluripotent stem cell (iPSC) line (IMAGINi007) from a patient with steroid-resistant nephrotic syndrome carrying the homozygous p.R138Q mutation in the podocin-encoding NPHS2 gene.

Giulia Menara, Nathalie Lefort, Corinne Antignac, Géraldine Mollet

Source : Stem Cell Res

2020 Jul 1

Pmid : 32585588

Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis.

Olivier Gribouval, Christelle Arrondel, Géraldine Mollet, Guillaume Dorval, Corinne Antignac

Source : Proc. Natl. Acad. Sci. U.S.A.

2020 Jun 30

Pmid : 32554502

Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function.

Corinne Antignac, Matias Simons, Patrick Nitschké, Christine Bole, Olivier Gribouval, Olivia Boyer

Source : J. Clin. Invest.

2019 Dec 3

Pmid : 31613795

Phenotypic similarity for rare disease: Ciliopathy diagnoses and subtyping.

Sophie Saunier, Stanislas Lyonnet, Nicolas Garcelon

Source : J Biomed Inform

2019 Nov 28

Pmid : 31622800

TBC1D8B Loss-of-Function Mutations Lead to X-Linked Nephrotic Syndrome via Defective Trafficking Pathways.

Corinne Antignac, Guillaume Dorval, Olivier Gribouval, Olivia Boyer, Alexandre Benmerah , Géraldine Mollet

Source : Am. J. Hum. Genet.

2019 Nov 19

Pmid : 30661770

Human IFT52 mutations uncover a novel role for the protein in microtubule dynamics and centrosome cohesion.

Sophie Saunier, Valérie Cormier-Daire, Cécile Jeanpierre, Meriem Garfa-Traoré , Patrick Nitschké

Source : Hum. Mol. Genet.

2019 Oct 27

Pmid : 31042281

Loss-of-function mutations in KIF14 cause severe microcephaly and kidney development defects in humans and zebrafish.

Alexandre Benmerah

Source : Hum. Mol. Genet.

2019 Oct 27

Pmid : 30388224

Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome.

Géraldine Mollet, Corinne Antignac, Christelle Arrondel, Olivier Gribouval, Olivia Boyer

Source : Nat Commun

2019 Sep 6

Pmid : 31481669

Cilia in hereditary cerebral anomalies.

Alexandre Benmerah

Source : Biol. Cell

2019 Sep 3

Pmid : 31177551

Casein kinase 1ε and 1α as novel players in polycystic kidney disease and mechanistic targets for (R)-roscovitine and (S)-CR8.

Sophie Saunier

Source : Am. J. Physiol. Renal Physiol.

2019 Jul 15

Pmid : 29537311

Ciliary kinesins beyond IFT: Cilium length, disassembly, cargo transport and signalling.

Alexandre Benmerah

Source : Biol. Cell

2019 Jul 11

Pmid : 30720881