S. Moutton

发表

Complete loss of function of the ubiquitin ligase HERC2 causes a severe neurodevelopmental phenotype

C. Rooryck, D. Lacombe, C. Baumann, 2016, European Journal of Human Genetics.

Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth.

S. Haas, V. Kalscheuer, H. Man, 2013, Human molecular 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.

The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction

W. Chung, K. Devriendt, Alison M. Male, 2020, Genetics in Medicine.

Sex chromosome aneuploidies and copy-number variants: a further explanation for neurodevelopmental prognosis variability?

B. Gilbert-Dussardier, C. Rooryck, C. Bénéteau, 2017, European Journal of Human Genetics.

Morphology and genomic hallmarks of breast tumours developed by ATM deleterious variant carriers

A. Vincent-Salomon, G. Chenevix-Trench, I. Bièche, 2018, Breast Cancer Research.

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.

Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity

J. Lupski, K. Devriendt, J. Vermeesch, 2019, Human mutation.

Delineating FOXG1 syndrome

E. Haan, D. Lev, F. Rivier, 2018, Neurology: Genetics.

Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C

A. Vanderver, R. Schiffmann, D. Timmann, 2020, The Journal of clinical endocrinology and metabolism.

Copy number variants calling from WES data through eXome hidden Markov model (XHMM) identifies additional 2.5% pathogenic genomic imbalances smaller than 30 kb undetected by array‐CGH

J. Thevenon, L. Faivre, C. Philippe, 2022, Annals of human genetics.

Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care

K. Devriendt, G. Scarano, A. Toutain, 2018, Genetics in Medicine.

Neuroimaging findings in Mowat–Wilson syndrome: a study of 54 patients

K. Devriendt, G. Scarano, A. Toutain, 2016, Genetics in Medicine.

Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome

S. Julia, R. Touraine, A. Toutain, 2017, American journal of medical genetics. Part C, Seminars in medical genetics.

Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder

R. Weksberg, N. Drouot, Y. Hérault, 2021, Genetics in Medicine.

Clinical study of 19 patients with SCN8A‐related epilepsy: Two modes of onset regarding EEG and seizures

S. Julia, A. Afenjar, O. Dulac, 2019, Epilepsia.

Health-Related Quality of Life for Patients With Genetically Determined Leukoencephalopathy.

A. Vanderver, R. Schiffmann, A. Majnemer, 2018, Pediatric neurology.

Next‐generation sequencing in a series of 80 fetuses with complex cardiac malformations and/or heterotaxy

R. Touraine, N. Chassaing, P. Jouk, 2020, Human mutation.

New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix–Saguenay

A. Durr, P. Convers, M. Koenig, 2015, Annals of neurology.

In utero seizures revealing dentato‐olivary dysplasia caused by SCN2A mutation

A. Laquérriere, L. Villard, S. Moutton, 2017, Neuropathology and applied neurobiology.

Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineation

C. Garel, A. Benachi, C. Bénéteau, 2020, Genetics in Medicine.

Typical facial gestalt in X‐linked Kabuki syndrome

I. Touitou, D. Lacombe, S. Moutton, 2016, American journal of medical genetics. Part A.

OMIXCARE: OMICS technologies solved about 33% of the patients with heterogeneous rare neuro-developmental disorders and negative exome sequencing results and identified 13% additional candidate variants

A. Afenjar, A. Boland, J. Deleuze, 2022, Frontiers in Cell and Developmental Biology.

Microdeletions at 19p13.11p12 in five individuals with neurodevelopmental delay.

A. Reis, A. Rauch, M. Krumbiegel, 2022, European journal of medical genetics.

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 .

Fetal phenotypes in otopalatodigital spectrum disorders

P. Fergelot, J. Melki, A. Verloes, 2016, Clinical genetics.

Autism and developmental disability caused by KCNQ3 gain‐of‐function variants

I. Scheffer, H. Mefford, D. Goldstein, 2019, Annals of neurology.

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

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

Morphology and genomic hallmarks of breast tumours developed by ATM deleterious variant carriers

A. Vincent-Salomon, G. Chenevix-Trench, I. Bièche, 2018, Breast Cancer Research.

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

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

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.

De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder.

I. Scheffer, H. Mefford, E. Zackai, 2018, American journal of human genetics.

Growth charts in Kabuki syndrome 1

A. Toutain, N. Philip, B. Gilbert-Dussardier, 2019, American Journal of Medical Genetics. Part A.

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.

Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineation

C. Garel, A. Benachi, C. Bénéteau, 2020, Genetics in Medicine.

Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders

R. Touraine, A. Afenjar, A. Toutain, 2019, Journal of Medical Genetics.

19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference

P. Fergelot, P. Gasparini, S. Mansour, 2017, European Journal of Human Genetics.

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.

Interest of exome sequencing trio‐like strategy based on pooled parental DNA for diagnosis and translational research in rare diseases

L. Faivre, C. Philippe, C. Thauvin-Robinet, 2021, Molecular genetics & genomic medicine.

Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations

N. Boddaert, A. Toutain, M. Picot, 2017, Clinical Genetics.

Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference: Interactive e-Posters

C., C. Garel, É., 2020, European Journal of Human Genetics.

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

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

Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.

P. Lockhart, I. Scheffer, H. Mefford, 2022, American journal of human genetics.

Neuropsychological study in 19 French patients with White‐Sutton syndrome and POGZ mutations

A. Afenjar, A. Toutain, B. Cogné, 2020, Clinical genetics.

Second-tier trio exome sequencing after negative solo clinical exome sequencing: an efficient strategy to increase diagnostic yield and decipher molecular bases in undiagnosed developmental disorders

S. Kushner, F. Lecoquierre, J. Thevenon, 2020, Human Genetics.

Second-tier trio exome sequencing after negative solo clinical exome sequencing: an efficient strategy to increase diagnostic yield and decipher molecular bases in undiagnosed developmental disorders

S. Kushner, F. Lecoquierre, J. Thevenon, 2020, Human Genetics.

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.

Stepwise use of genomics and transcriptomics technologies increases diagnostic yield in Mendelian disorders

A. Boland, J. Deleuze, E. Colin, 2023, Frontiers in Cell and Developmental Biology.

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.

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

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

Homozygous 16p13.11 duplication associated with mild intellectual disability and urinary tract malformations in two siblings born from consanguineous parents

J. Toutain, C. Rooryck, D. Lacombe, 2015, American journal of medical genetics. Part A.

Widening of the genetic and clinical spectrum of Lamb–Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency

Eric W. Klee, Ange-Line Bruel, Sophie Nambot, 2019, 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.

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.

Multiplex targeted high‐throughput sequencing in a series of 352 patients with congenital limb malformations

F. Giuliano, F. Escande, A. Dieux, 2020, Human mutation.

Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15.

D. Baralle, R. Bernier, F. Alkuraya, 2019, Human molecular genetics.

STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability

Golder N Wilson, I. Simonic, Soo-Mi Park, 2017, Journal of Medical Genetics.

Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations

R. Touraine, J. Mandel, J. Thevenon, 2020, Journal of Medical Genetics.

PURA-Related Developmental and Epileptic Encephalopathy

M. Reijnders, D. Segal, E. Wirrell, 2021, Neurology. Genetics.

DLG4-related synaptopathy: a new rare brain disorder

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

Truncating variants of the DLG4 gene are responsible for intellectual disability with marfanoid features

L. Faivre, C. Philippe, C. Thauvin-Robinet, 2018, 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.

Genetic counselling difficulties and ethical implications of incidental findings from array‐CGH: a 7‐year national survey

S. Julia, A. Afenjar, A. Toutain, 2016, Clinical genetics.

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.

Discovery of a genetic module essential for assigning left–right asymmetry in humans and ancestral vertebrates

B. Venkatesh, H. R. Crollius, F. Eisenhaber, 2021, Nature Genetics.

Discovery of a genetic module essential for assigning left–right asymmetry in humans and ancestral vertebrates

B. Venkatesh, H. R. Crollius, F. Eisenhaber, 2021, Nature Genetics.

HNRNPR Variants that Impair Homeobox Gene Expression Drive Developmental Disorders in Humans.

M. Wlodarski, A. MacInnes, R. Houtkooper, 2019, American journal of human genetics.

Recurrent KIF2A mutations are responsible for classic lissencephaly

C. Bole-Feysot, J. Steffann, J. Pedespan, 2017, neurogenetics.

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.

High efficiency and clinical relevance of exome sequencing in the daily practice of neurogenetics

Y. Béjot, M. Giroud, L. Faivre, 2021, Journal of the Neurological Sciences.

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.

Variants of human CLDN9 cause mild to profound hearing loss

T. Friedman, C. Philippe, C. Fenollar-Ferrer, 2021, Human mutation.

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.

10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in France

J. Melki, A. Toutain, A. Verloes, 2021, Orphanet Journal of Rare Diseases.

Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy.

Kiely N. James, J. Rosenfeld, Alison M. Male, 2020, American journal of human genetics.

Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool

C. Rooryck, L. Pasquier, E. Colin, 2023, Frontiers in Genetics.

Using deep-neural-network-driven facial recognition to identify distinct Kabuki syndrome 1 and 2 gestalt

S. Julia, A. Afenjar, A. Toutain, 2021, European Journal of Human Genetics.

Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15.

D. Baralle, R. Bernier, F. Alkuraya, 2020, Human molecular genetics.

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.

DE NOVO VARIANTS IN FBXW7 ASSOCIATED WITH A VARIABLE NEURODEVELOPMENTAL AND CONGENITAL ANOMALY PHENOTYPE

W. Chung, O. Devinsky, A. Gupta, 2020 .

Rare variants in PPFIA3 cause delayed development, intellectual disability, autism, and epilepsy

Alyssa A. Tran, Undiagnosed Diseases Network, J. Rosenfeld, 2023, medRxiv.

Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice

Ellen F. Macnamara, J. Constantino, J. Graham, 2023, Science advances.

Clinical and Molecular Spectrum of Nonsyndromic Early‐Onset Osteoarthritis

A. Fabre, M. Barat‐Houari, I. Touitou, 2020, Arthritis & rheumatology.

Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in POLR3A, POLR3B and POLR1C

A. Vanderver, I. Thiffault, B. Brais, 2023, Journal of Medical Genetics.

19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference

P. Fergelot, P. Gasparini, S. Mansour, 2017, European Journal of Human Genetics.

Cost of exome analysis in patients with intellectual disability: a micro-costing study in a French setting

A. Toutain, N. Philip, P. Jouk, 2023, BMC Health Services Research.

Unexpected diagnosis of a SHH nonsense variant causing a variable phenotype ranging from familial coloboma and Intellectual disability to isolated microcephaly

J. Rivière, J. Thevenon, L. Faivre, 2018, Clinical genetics.

Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum

P. Fergelot, A. Mégarbané, N. Chassaing, 2016, Journal of Human Genetics.

De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes.

G. Mancini, D. Bick, J. Thevenon, 2019, Human molecular genetics.

A novel FTL mutation responsible for neuroferritinopathy with asymmetric clinical features and brain anomalies.

P. Fergelot, P. Brugières, D. Lacombe, 2014, Parkinsonism & Related Disorders.

Rare metabolic disease mimicking COL4A1/COL4A2 fetal brain phenotype

M. Yvert, F. Rivier, N. Leboucq, 2022, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Combining globally search for a regular expression and print matching lines with bibliographic monitoring of genomic database improves diagnosis

J. Thevenon, S. Mercier, L. Faivre, 2023, Frontiers in Genetics.

Major intra-familial phenotypic heterogeneity and incomplete penetrance due to a CACNA1A pathogenic variant.

P. Jouk, D. Lacombe, C. Goizet, 2019, European journal of medical genetics.

Audiological phenotyping evaluation in KBG syndrome: Description of a multicenter review.

S. Moutton, M. Rio, Y. Lerosey, 2023, International journal of pediatric otorhinolaryngology.

The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders

E. Zackai, J. Lupski, T. Strom, 2023, Brain : a journal of neurology.

Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies: 3.5% of all positive cases

E. Colin, J. Thevenon, L. Faivre, 2023, Journal of medical genetics.

Neuroimaging findings in Mowat–Wilson syndrome: a study of 54 patients

K. Devriendt, G. Scarano, A. Toutain, 2016, Genetics in Medicine.

Dysmorphic features in subtelomeric 20p13 deletion excluding JAG1: a recognizable microdeletion phenotype?

J. Toutain, C. Rooryck, D. Lacombe, 2012, European journal of medical genetics.

Genetic counselling difficulties and ethical implications of incidental findings from array‐CGH: a 7‐year national survey

S. Julia, A. Afenjar, A. Toutain, 2016, Clinical genetics.

New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix–Saguenay

A. Durr, P. Convers, M. Koenig, 2015, Annals of neurology.

Neuroimaging findings in Mowat–Wilson syndrome: a study of 54 patients

K. Devriendt, G. Scarano, A. Toutain, 2016, Genetics in Medicine.

Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition

Maeson S. Latsko, P. Jayakar, K. Štěrbová, 2023, Research square.

Growth charts in DYRK1A syndrome

A. Afenjar, A. Bayat, L. Pasquier, 2023, American journal of medical genetics. Part A.