T. Jouan

发表

Recessive loss of function PIGN alleles, including an intragenic deletion with founder effect in La Réunion Island, in patients with Fryns syndrome

C. Bole-Feysot, P. Nitschké, J. Thevenon, 2018, European Journal of Human Genetics.

A novel homozygous KCNQ3 loss‐of‐function variant causes non‐syndromic intellectual disability and neonatal‐onset pharmacodependent epilepsy

C. Philippe, M. Cataldi, H. Maurey, 2019, Epilepsia open.

Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature

R. Touraine, A. Verloes, F. Ramond, 2020, Clinical genetics.

De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature

G. Cooper, P. Fergelot, K. Devriendt, 2020, European Journal of Human Genetics.

Variant recurrence in neurodevelopmental disorders: the use of publicly available genomic data identifies clinically relevant pathogenic missense variants

F. Lecoquierre, L. Faivre, C. Philippe, 2019, Genetics in Medicine.

Accelerated genome sequencing with controlled costs for infants in intensive care units: a feasibility study in a French hospital network

C. Flamant, A. Toutain, A. Boland, 2021, European Journal of Human Genetics.

Whole-exome sequencing identifies the first French MODY 6 family with a new mutation in the NEUROD1 gene.

B. Vergès, Y. Duffourd, S. Baillot-Rudoni, 2020, Diabetes & metabolism.

Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy.

S. Antonarakis, P. Milani, S. Auvin, 2016, American journal of human genetics.

Application of whole‐exome sequencing to unravel the molecular basis of undiagnosed syndromic congenital neutropenia with intellectual disability

J. Melki, J. Rivière, J. Thevenon, 2017, American journal of medical genetics. Part A.

Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing

R. Touraine, C. Chiaverini, J. Rivière, 2017, Genetics in Medicine.

Mosaicism for a KITLG Mutation in Linear and Whorled Nevoid Hypermelanosis.

J. Rivière, J. Thevenon, L. Faivre, 2017, The Journal of investigative dermatology.

Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis

Patrick Callier, Ange-Line Bruel, Sophie Nambot, 2017, Genetics in Medicine.

Secondary actionable findings identified by exome sequencing: expected impact on the organisation of care from the study of 700 consecutive tests

J. Deleuze, J. Thevenon, L. Faivre, 2019, European Journal of Human Genetics.

Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses.

J. Rivière, J. Thevenon, L. Faivre, 2017, European journal of medical genetics.

De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy

S. Nelson, J. Graham, J. Martinez-Agosto, 2018, Genetics in Medicine.

Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing

J. Melki, N. Philip, Salima El-Chehadeh, 2019, European Journal of Human Genetics.

Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing

J. Thevenon, L. Faivre, C. Philippe, 2019, European Journal of Human Genetics.

De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features

J. Clayton-Smith, D. Harris, J. Rivière, 2020, Journal of Medical Genetics.

Autosomal recessive variations of TBX6, from congenital scoliosis to spondylocostal dysostosis

J. Rivière, A. Verloes, J. Thevenon, 2017, Clinical genetics.

De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome

C. Romano, E. Eichler, H. Firth, 2020, Genetics in Medicine.

Lysosomal Signaling Licenses Embryonic Stem Cell Differentiation via Inactivation of Tfe3.

Michael B. Stadler, S. Smallwood, J. Rivière, 2019, Cell stem cell.

Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability

B. O’Roak, A. Munnich, G. Jondeau, 2020, Journal of Medical Genetics.

Prenatal presentation of Aicardi‐Goutières syndrome: Nonspecific phenotype necessitates exome sequencing for definitive diagnosis

J. Thevenon, L. Faivre, C. Philippe, 2019, Prenatal diagnosis.

Further clinical and molecular characterization of an XLID syndrome associated with BRWD3 variants, a gene implicate in leukemia-related JAK-STAT pathway.

H. Warren, P. Blackburn, L. Ousager, 2022, European journal of medical genetics.

Extending the ALDH18A1 clinical spectrum to severe autosomal recessive fetal cutis laxa with corpus callosum agenesis

J. Thevenon, L. Faivre, C. Thauvin-Robinet, 2018, American journal of medical genetics. Part A.

Secondary actionable findings identified by exome sequencing: expected impact on the organisation of care from the study of 700 consecutive tests

J. Deleuze, J. Thevenon, L. Faivre, 2019, European Journal of Human Genetics.

De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy

S. Nelson, J. Graham, J. Martinez-Agosto, 2018, Genetics in Medicine.