F. T. Mau-Them

发表

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

François Dubeau, Guillaume Bourque, Ange-Line Bruel, 2017, American journal of human genetics.

The diagnostic rate of inherited metabolic disorders by exome sequencing in a cohort of 547 individuals with developmental disorders

J. Thevenon, L. Faivre, C. Philippe, 2021, Molecular genetics and metabolism reports.

De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability

Michael T. Zimmermann, Nikita R. Dsouza, S. Antonarakis, 2020, Journal of Medical Genetics.

Exome sequencing allows detection of relevant pharmacogenetic variants in epileptic patients

L. Faivre, Quentin Thomas, C. Philippe, 2022, The Pharmacogenomics Journal.

Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability

F. Rivier, D. Wieczorek, I. Touitou, 2013, European Journal of Human Genetics.

TRIT1 deficiency: Two novel patients with four novel variants.

L. Faivre, C. Thauvin-Robinet, F. Petit, 2022, European journal of medical genetics.

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.

New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics

A. Verloes, S. Banka, T. Reimand, 2020, Genetics in Medicine.

HIST1H1E heterozygous protein‐truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals

C. Cytrynbaum, R. Weksberg, J. Graham, 2019, American journal of medical genetics. Part A.

The p190 RhoGAPs, ARHGAP35, and ARHGAP5 are implicated in GnRH neuronal development: Evidence from patients with idiopathic hypogonadotropic hypogonadism, zebrafish, and in vitro GAP activity assay.

R. Quinton, W. Crowley, A. Wilkie, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4

M. Bihoreau, J. Laplanche, G. Captier, 2019, Genetics in Medicine.

A second look at exome sequencing data: detecting mobile elements insertion in a rare disease cohort

A. Verloes, L. Faivre, C. Philippe, 2022, European Journal of Human Genetics.

Circulating Cell Free Tumor DNA Detection as a Routine Tool for Lung Cancer Patient Management

J. Solassol, J. Vendrell, S. Godreuil, 2017, International journal of molecular sciences.

NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

I. Scheffer, H. Mefford, M. Mackay, 2020, Genetics in Medicine.

Deciphering exome sequencing data: Bringing mitochondrial DNA variants to light

C. Bris, V. Procaccio, L. Faivre, 2019, Human mutation.

Systematic analysis and prediction of genes associated with disorders on chromosome X

J. Gécz, N. Drouot, P. Striano, 2022, medRxiv.

Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases

Michael F. Wangler, Nele A. Haelterman, Jill A. Madden, 2022, Cell reports.

Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development.

Frédéric Tran Mau-Them, Jean-François Deleuze, Elise Schaefer, 2017, American journal of human genetics.

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7

M. Reijnders, W. Chung, A. Munnich, 2020, Genetics in Medicine.

Next‐generation sequencing approaches and challenges in the diagnosis of developmental anomalies and intellectual disability

Patrick Callier, Ange-Line Bruel, Antonio Vitobello, 2020, Clinical genetics.

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.

Same performance of exome sequencing before and after fetal autopsy for congenital abnormalities: toward a paradigm shift in prenatal diagnosis?

J. Thevenon, L. Faivre, S. Blesson, 2022, European Journal of Human Genetics.

L. Feuk, B. V. van Bon, R. Pfundt, 2021, Genetics in Medicine.

Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly.

J. Rosenfeld, E. Roeder, J. Lupski, 2023, American journal of human genetics.

Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy

R. Taft, Q. Waisfisz, R. Rodenburg, 2019, Neurology.

Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity

Jill A. Madden, J. Lupski, R. Tenconi, 2021, Genetics in Medicine.

De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder.

N. Drouot, P. V. Van Ness, A. Goldman, 2020, American journal of human genetics.

Highly clustered de novo frameshift variants in the neuronal splicing factor NOVA2 result in a specific abnormal C terminal part and cause a severe form of intellectual disability with autistic features

N. Drouot, A. Goldman, A. Telegrafi, 2019, bioRxiv.

De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay.

L. Vissers, I. Krantz, R. Bodmer, 2020, American journal of human genetics.

Skraban‐Deardorff syndrome: Six new cases of WDR26‐related disease and expansion of the clinical phenotype

W. Carré, L. Pasquier, L. Faivre, 2020, Clinical genetics.

Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment

Nancy T. Malintan, J. Rothman, D. Kullmann, 2019, American journal of human genetics.

2.5 years’ experience of GeneMatcher data-sharing: a powerful tool for identifying new genes responsible for rare diseases

F. Lecoquierre, J. Thevenon, A. Telegrafi, 2018, Genetics in Medicine.

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.

J. Schuurs-Hoeijmakers, M. Reijnders, H. Brunner, 2018, American journal of human genetics.

A bi‐allelic loss‐of‐function SARS1 variant in children with neurodevelopmental delay, deafness, cardiomyopathy, and decompensation during fever

E. Schmitt, J. Rivière, J. Thevenon, 2021, Human mutation.

G. Captier, J. Rivière, M. Barat‐Houari, 2017, Genetics in Medicine.

Refining the clinical phenotype associated with missense variants in exons 38 and 39 of KMT2D

S. Banka, L. Faivre, C. Philippe, 2022, American Journal of Medical Genetics. Part A.

Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder

Jill A. Madden, J. Rosenfeld, J. R. Younce, 2023, medRxiv.

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

J. Rosenfeld, I. Scheffer, H. Mefford, 2017, American journal of human genetics.

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.

J. Schuurs-Hoeijmakers, M. Reijnders, H. Brunner, 2018, American journal of human genetics.

Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders

C. Depienne, O. Guillin, A. Afenjar, 2023, European journal of human genetics : EJHG.

Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss-of-function variants.

Mahshid S. Azamian, S. Lalani, B. Isidor, 2023, American journal of medical genetics. Part A.

Penetrance, variable expressivity and monogenic neurodevelopmental disorders.

F. Lecoquierre, B. Cogné, W. Deb, 2024, European journal of medical genetics.

Early prenatal diagnosis of causative homozygous variants in ASCC1 in a fetus with cystic hygroma and additional homozygous variants of unknown significance associated with a neurological phenotype not visible in early gestation: Dual diagnosis or not?

C. Thauvin-Robinet, Y. Duffourd, F. T. Mau-Them, 2024, Prenatal Diagnosis.