Publications

Serag, M.; Plutino, M.; Charles, P.; Azulay, J.-P.; Chaussenot, A.; Paquis-Flucklinger, V.; Ait-El-Mkadem Saadi, S.; Rouzier, C. A Case Report of SYNE1 Deficiency-Mimicking Mitochondrial Disease and the Value of Pangenomic Investigations. Genes 2023, 14, 2154. https://doi.org/10.3390/genes14122154.

Ait-El-Mkadem Saadi, S ; Kaphan, E ; Morales Jaurrieta, A ; Fragaki, K ; Chaussenot, A ; Bannwarth, S & al , Splicing variants in NARS2 are associated with milder phenotypes and intra-familial variability., Eur J Med Genet, 2022, 65, 104643.

Labory, J ; Le Bideau, G ; Pratella, D ; Yao, JE ; Ait-El-Mkadem Saadi, S ; Bannwarth, S & al , ABEILLE: a novel method for ABerrant Expression Identification empLoying machine LEarning from RNA-sequencing data., Bioinformatics, 2022, 38, 4754-4761.

Genin, EC ; Bannwarth, S ; Ropert, B ; Lespinasse, F ; Mauri-Crouzet, A ; Augé, G & al , CHCHD10 and SLP2 control the stability of the PHB complex: a key factor for motor neuron viability., Brain, 2022, 145, 3415-3430.

Pratella, D ; Duboc, V ; Milanesio, M ; Boudjarane, J ; Descombes, S ; Paquis-Flucklinger, V & al , GenomeMixer and TRUST: Novel bioinformatics tools to improve reliability of Non-Invasive Prenatal Testing (NIPT) for fetal aneuploidies., Comput Struct Biotechnol J, 2022, 20, 1028-1035.

Pratella, D ; Ait-El-Mkadem Saadi, S ; Bannwarth, S ; Paquis-Fluckinger, V ; Bottini, S , A Survey of Autoencoder Algorithms to Pave the Diagnosis of Rare Diseases., Int J Mol Sci, 2021, 22, .

Biancalana, V ; Rendu, J ; Chaussenot, A ; Mecili, H ; Bieth, E ; Fradin, M & al , A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course., Acta Neuropathol Commun, 2021, 9, 155.

Duboc, V ; Pratella, D ; Milanesio, M ; Boudjarane, J ; Descombes, S ; Paquis-Flucklinger, V & al , NiPTUNE: an automated pipeline for noninvasive prenatal testing in an accurate, integrative and flexible framework., Brief Bioinform, 2022, 23, .

Benkirane, M ; Marelli, C ; Guissart, C ; Roubertie, A ; Ollagnon, E ; Choumert, A & al , High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families., Genet Med, 2021, 23, 2160-2170.

Bris, C ; Goudenège, D ; Desquiret-Dumas, V ; Gueguen, N ; Bannwarth, S ; Gaignard, P & al , Improved detection of mitochondrial DNA instability in mitochondrial genome maintenance disorders., Genet Med, 2021, 23, 1769-1778.

Labory, J ; Fierville, M ; Ait-El-Mkadem, S ; Bannwarth, S ; Paquis-Flucklinger, V ; Bottini, S , Multi-Omics Approaches to Improve Mitochondrial Disease Diagnosis: Challenges, Advances, and Perspectives., Front Mol Biosci, 2020, 7, 590842.

Zereg, E ; Chaussenot, A ; Morel, G ; Bannwarth, S ; Sacconi, S ; Soriani, MH & al , Single-fiber studies for assigning pathogenicity of eight mitochondrial DNA variants associated with mitochondrial diseases., Hum Mutat, 2020, 41, 1394-1406.

Decoux-Poullot, AG ; Bannwarth, S ; Procaccio, V ; Lebre, AS ; Jardel, C ; Vialettes, B & al , Clinical phenotype of mitochondrial diabetes due to rare mitochondrial DNA mutations., Ann Endocrinol (Paris), 2020, 81, 68-77.

Fragaki, K ; Chaussenot, A ; Serre, V ; Acquaviva, C ; Bannwarth, S ; Rouzier, C & al , A novel variant m.8561C>T in the overlapping region of MT-ATP6 and MT-ATP8 in a child with early-onset severe neurological signs., Mol Genet Metab Rep, 2019, 21, 100543.

Rouzier, C ; Chaussenot, A ; Fragaki, K ; Serre, V ; Ait-El-Mkadem, S ; Richelme, C & al , NDUFS6 related Leigh syndrome: a case report and review of the literature., J Hum Genet, 2019, 64, 637-645.

Genin, EC ; Madji Hounoum, B ; Bannwarth, S ; Fragaki, K ; Lacas-Gervais, S ; Mauri-Crouzet, A & al , Mitochondrial defect in muscle precedes neuromuscular junction degeneration and motor neuron death in CHCHD10 S59L/+ mouse., Acta Neuropathol, 2019, 138, 123-145.

Bernardor, J ; Faudeux, C ; Chaussenot, A ; Antignac, C ; Goldenberg, A ; Gubler, MC & al , Nephrotic syndrome and mitochondrial disorders: answers., Pediatr Nephrol, 2019, 34, 1375-1377.

Bernardor, J ; Faudeux, C ; Chaussenot, A ; Antignac, C ; Goldenberg, A ; Gubler, MC & al , Nephrotic syndrome and mitochondrial disorders: Questions., Pediatr Nephrol, 2019, 34, 1373-1374.

Goudenège, D ; Bris, C ; Hoffmann, V ; Desquiret-Dumas, V ; Jardel, C ; Rucheton, B & al , eKLIPse: a sensitive tool for the detection and quantification of mitochondrial DNA deletions from next-generation sequencing data., Genet Med, 2019, 21, 1407-1416.