K. Siquier-Pernet

发表

Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia.

H. Hakonarson, P. Crino, M. Hegde, 2016, American journal of human genetics.

De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene

A. Munnich, N. Boddaert, S. Hanein, 2018, Brain : a journal of neurology.

Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population

A. Munnich, N. Boddaert, C. Bole-Feysot, 2016, Orphanet Journal of Rare Diseases.

Title: Recessive PRDM13 mutations cause severe brainstem dysfunction with perinatal lethality, cerebellar hypoplasia and disrupt Purkinje cell differentiation

C. Garel, N. Boddaert, A. Laquérriere, 2022 .

Refining the phenotype associated with CASC5 mutation

A. Munnich, C. Bole-Feysot, P. Nitschké, 2015, neurogenetics.

Mutations in NONO lead to syndromic intellectual disability and inhibitory synaptic defects

Steven A. Brown, A. Munnich, A. Schröter, 2015, Nature Neuroscience.

Profiling olfactory stem cells from living patients identifies miRNAs relevant for autism pathophysiology

Lam Son Nguyen, Y. Humeau, C. Rougeulle, 2016, Molecular Autism.

Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders

J. Hehir-Kwa, B. D. de Vries, D. Baralle, 2020, American journal of human genetics.

16p13.11p11.2 triplication syndrome: a new recognizable genomic disorder characterized by optical genome mapping and whole genome sequencing

A. Hastie, C. Bole-Feysot, P. Nitschké, 2022, European Journal of Human Genetics.

Differential expression of the 18 kDa translocator protein (TSPO) by neoplastic and inflammatory cells in mouse tumors of breast cancer.

R. Boisgard, B. Tavitian, F. Dollé, 2011, Molecular pharmaceutics.

Mutation in TTI2 Reveals a Role for Triple T Complex in Human Brain Development

A. Munnich, M. Stern, P. Nitschké, 2013, Human mutation.

AMPA-receptor specific biogenesis complexes control synaptic transmission and intellectual ability

B. Fakler, Sami Boudkkazi, C. Bole-Feysot, 2017, Nature Communications.

A nonsense variant in HERC1 is associated with intellectual disability, megalencephaly, thick corpus callosum and cerebellar atrophy

Sébastien Moutton, Nathalie Boddaert, Lam Son Nguyen, 2015, European Journal of Human Genetics.

Contiguous mutation syndrome in the era of high-throughput sequencing

A. Munnich, N. Boddaert, R. Barouki, 2015, Molecular genetics & genomic medicine.

Whole-exome sequence analysis highlights the role of unmasked recessive mutations in copy number variants with incomplete penetrance

C. Bole-Feysot, P. Nitschké, M. Vekemans, 2018, European Journal of Human Genetics.

Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy

Kiely N. James, A. Fatemi, M. Tarnopolsky, 2019, The Journal of clinical investigation.

Molecular imaging study on in vivo distribution and pharmacokinetics of modified small interfering RNAs (siRNAs).

R. Boisgard, B. Jego, B. Tavitian, 2008, Oligonucleotides.

Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cells differentiation.

C. Garel, N. Boddaert, J. Baptista, 2022, American journal of human genetics.

Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination

Nancy T. Malintan, J. Rothman, D. Kullmann, 2019, Brain : a journal of neurology.

OP-BRAI190255 2948..2964

Nancy T. Malintan, M. Ryten, N. Boddaert, 2019 .

A novel mutation in STXBP1 causing epileptic encephalopathy (late onset infantile spasms) with partial respiratory chain complex IV deficiency.

A. Munnich, R. Nabbout, C. Barnérias, 2013, European journal of medical genetics.

A non-coding variant in the Kozak sequence of RARS2 strongly decreases protein levels and causes pontocerebellar hypoplasia

A. Munnich, N. Boddaert, C. Bole-Feysot, 2023, BMC Medical Genomics.

Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia.

H. Hakonarson, P. Crino, M. Hegde, 2016, American journal of human genetics.