X. Latypova

发表

Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.

J. Rosenfeld, I. Scheffer, H. Mefford, 2016, American journal of human genetics.

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.

Stephan J Sanders, R. Redon, J. Rosenfeld, 2019, American journal of human genetics.

Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome

Nikita R. Dsouza, Magalie S Leduc, J. Graham, 2022, Genome Medicine.

First French study relative to preconception genetic testing: 1500 general population participants’ opinion

B. Isidor, S. Bézieau, X. Latypova, 2021, Orphanet Journal of Rare Diseases.

De Novo Truncating Mutations in the Kinetochore‐Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability

R. Redon, J. Rosenfeld, C. Dina, 2016, Human mutation.

New recessive mutations in SYT2 causing severe presynaptic congenital myasthenic syndromes

A. Sureau, J. Rendu, B. Eymard, 2020, Neurology: Genetics.

NGS-driven molecular diagnosis of heterogeneous hereditary neurological disorders reveals novel and known variants in disease-causing genes

S. Baig, J. Rendu, J. Fauré, 2022, Molecular Genetics and Genomics.

RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6

H. Kayserili, N. Barker, C. Bénéteau, 2018, Nature.

A dominant vimentin variant causes a rare syndrome with premature aging

S. Küry, B. Cogné, C. Chariau, 2020, European Journal of Human Genetics.

Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy

C. Mathew, M. Simpson, N. Mailand, 2022, Nature Communications.

Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant Ciliopathy.

D. Koboldt, N. Katsanis, S. Daiger, 2020, American journal of human genetics.

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

Meghan C Towne, Sharyn A. Lincoln, Stephan J Sanders, 2017, American journal of human genetics.

Novel KCNB1 mutation associated with non-syndromic intellectual disability

Naomichi Matsumoto, Stéphane Bézieau, N. Matsumoto, 2016, Journal of Human Genetics.

Diagnostic workup in children with arthrogryposis: description of practices from a single reference centre, comparison with literature and suggestion of recommendations

P. Jouk, J. Rendu, J. Fauré, 2021, Journal of Medical Genetics.

The Clinical and Genotypic Spectrum of Scoliosis in Multiple Pterygium Syndrome: A Case Series on 12 Children

P. Giampietro, F. Rauch, K. Shazand, 2021, Genes.

New splicing pathogenic variant in EBP causing extreme familial variability of Conradi–Hünermann–Happle Syndrome

N. Winer, C. Bénéteau, S. Mercier, 2018, European Journal of Human Genetics.

Toward Personalized Medicine: Using Cardiomyocytes Differentiated From Urine-Derived Pluripotent Stem Cells to Recapitulate Electrophysiological Characteristics of Type 2 Long QT Syndrome

F. Charpentier, G. Loussouarn, I. Baró, 2015, Journal of the American Heart Association.

Tau protein phosphatases in Alzheimer's disease: The leading role of PP2A

Cornelia M. Wilson, F. Terro, Ludovic Martin, 2013, Ageing Research Reviews.

De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive.

S. Lalani, Yaping Yang, C. Eng, 2016, American journal of human genetics.

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder.

Stephan J Sanders, R. Redon, J. Rosenfeld, 2017, American journal of human genetics.

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder.

Stephan J Sanders, R. Redon, J. Rosenfeld, 2017, American journal of human genetics.

Post-translational modifications of tau protein: Implications for Alzheimer's disease

F. Terro, Ludovic Martin, X. Latypova, 2011, Neurochemistry International.

Tau protein kinases: Involvement in Alzheimer's disease

Cornelia M. Wilson, F. Terro, C. Yardin, 2013, Ageing Research Reviews.

A Genomic Approach to Delineating the Occurrence of Scoliosis in Arthrogryposis Multiplex Congenita

P. Giampietro, K. Shazand, N. Dahan-Oliel, 2021, Genes.

Two novel variants in CNTNAP1 in two siblings presenting with congenital hypotonia and hypomyelinating neuropathy

S. Küry, C. Bénéteau, B. Cogné, 2016, European Journal of Human Genetics.

Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.

Stephan J Sanders, Carol J. Saunders, C. Freitag, 2018, American journal of human genetics.

Objective Evaluation of Clinical Actionability for Genes Involved in Myopathies: 63 Genes with a Medical Value for Patient Care

M. Cossée, N. Lévy, J. Rendu, 2022, medRxiv.

Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder.

J. Rosenfeld, P. Stankiewicz, R. Stevenson, 2021, American journal of human genetics.

Mandibular dysostosis without microphthalmia caused by OTX2 deletion

C. Le Caignec, B. Isidor, O. Pichon, 2016, American journal of medical genetics. Part A.

Familial deep endometriosis: A rare monogenic disease?

S. Ploteau, B. Isidor, X. Latypova, 2017, European journal of obstetrics, gynecology, and reproductive biology.

Erratum: De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder (American Journal of Human Genetics (2017) 100(2) (352–363) (S0002929717300034) (10.1016/j.ajhg.2017.01.003))

Stephan J Sanders, R. Redon, J. Rosenfeld, 2017 .

New splicing pathogenic variant in EBP causing extreme familial variability of Conradi–Hünermann–Happle Syndrome

N. Winer, C. Bénéteau, S. Mercier, 2018, European Journal of Human Genetics.

Mutations in MYLPF cause a novel segmental amyoplasia that manifests as distal arthrogryposis

D. Nickerson, M. Bamshad, K. Buckingham, 2020, bioRxiv.

A dominant vimentin variant causes a rare syndrome with premature aging

S. Küry, B. Cogné, C. Chariau, 2020, European Journal of Human Genetics.

Challenges of preconception genetic testing in France: A qualitative study.

B. Isidor, X. Latypova, M. Jourdain, 2022, European journal of medical genetics.

Letter regarding the article "Two girls with short stature, short neck, vertebral anomalies, Sprengel deformity and intellectual disability" (Isidor et al., 2015).

B. Isidor, X. Latypova, Xiao Dang, 2021, European journal of medical genetics.