C. Thauvin-Robinet

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Phenotypic spectrum and incidence of TRPV4 mutations in patients with inherited axonal neuropathy

F. Chapon, R. Carlier, A. Echaniz-Laguna, 2014 .

Primary Progressive Aphasia Associated With GRN Mutations

B. Dubois, J. Pariente, R. Levy, 2021, Neurology.

Multifocal ectopic Purkinje-related premature contractions: a new SCN5A-related cardiac channelopathy.

Yves Coudière, Christian Dina, Laurence Faivre, 2012, Journal of the American College of Cardiology.

Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis

Pierre Lindenbaum, Christian Dina, Laurence Faivre, 2011, Nature Genetics.

Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

Véronique Geoffroy, Claire Redin, Jean Muller, 2014, Journal of Medical Genetics.

Fifteen years of research on oral–facial–digital syndromes: from 1 to 16 causal genes

Colin A. Johnson, M. Huynen, D. Birnbaum, 2017, Journal of Medical Genetics.

Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?

W. Reardon, R. Touraine, A. Afenjar, 2017, Clinical genetics.

Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients

S. Julia, R. Touraine, A. Afenjar, 2016, American journal of medical genetics. Part A.

Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20

A. Munnich, D. Lacombe, F. Giuliano, 2020, European Journal of Human Genetics.

17q21.31 microdeletion in a patient with pituitary stalk interruption syndrome.

L. Faivre, C. Thauvin-Robinet, P. Callier, 2011, European journal of medical genetics.

Search for the best indicators for the presence of a VPS13B gene mutation and confirmation of diagnostic criteria in a series of 34 patients genotyped for suspected Cohen syndrome

A. Afenjar, N. Philip, A. Verloes, 2010, Journal of Medical 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.

Bladder exstrophy–epispadias complex: Investigation of suppressor of variegation, enhancer of zeste and Trithorax (SET) as a candidate gene in a large cohort of patients

C. Thauvin-Robinet, H. Reutter, W. Rösch, 2006, Scandinavian journal of urology and nephrology.

Prenatal diagnosis of Juberg–Hayward syndrome

L. Faivre, C. Thauvin-Robinet, P. Sagot, 2005, Prenatal diagnosis.

Newborn screening programmes including genetic analyses: limits and risks of negative consequences?

C. Thauvin-Robinet, E. Girodon, A. Munck, 2010, Journal of Epidemiology & Community Health.

The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening

E. Génin, C. Clavel, S. Leroy, 2009, Journal of Medical Genetics.

Re-focusing on Agnathia-Otocephaly complex

P. Calvas, N. Chassaing, D. Lacombe, 2020, Clinical Oral Investigations.

Loss‐of‐function variants in ARHGEF9 are associated with an X‐linked intellectual disability dominant disorder

L. Cuisset, B. Cogné, C. Thauvin-Robinet, 2021, Human mutation.

The oculoauriculofrontonasal syndrome: Further clinical characterization and additional evidence suggesting a nontraditional mode of inheritance

G. Captier, H. Kayserili, M. Vezain, 2018, American journal of medical genetics. Part A.

Clinical delineation of a subtype of frontonasal dysplasia with creased nasal ridge and upper limb anomalies: Report of six unrelated patients

J. Choi, H. Kayserili, J. Thevenon, 2017, American journal of medical genetics. Part A.

Cohen Syndrome-Associated Cataract Is Explained by VPS13B Functions in Lens Homeostasis and Is Modified by Additional Genetic Factors

S. Picaud, C. Thauvin-Robinet, E. Dubus, 2020, Investigative ophthalmology & visual science.

Serpin B1 defect and increased apoptosis of neutrophils in Cohen syndrome neutropenia

E. Solary, A. Hammann, J. Thevenon, 2019, Journal of Molecular Medicine.

Cohen syndrome is associated with major glycosylation defects.

E. Solary, J. Rivière, J. Thevenon, 2014, Human molecular genetics.

Congenital neutropenia with retinopathy, a new phenotype without intellectual deficiency or obesity secondary to VPS13B mutations

J. Thevenon, L. Faivre, C. Thauvin-Robinet, 2014, American journal of medical genetics. Part A.

The power of high-resolution non-targeted array-CGH in identifying intragenic rearrangements responsible for Cohen syndrome

P. Rump, L. Faivre, C. Thauvin-Robinet, 2011, Journal of Medical Genetics.

High prevalence of arrhythmic and myocardial complications in patients with cardiac glycogenosis due to PRKAG2 mutations

M. Desnos, C. Bonithon-Kopp, J. Thevenon, 2018, Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology.

Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve-Melchior-Clausen syndrome.

A. Munnich, R. Trembath, A. Verloes, 2003, Human molecular genetics.

SOD 1 , ANG , VAPB , TARDBP , and FUS mutations in familial Amyotrophic Lateral Sclerosis : genotype-phenotype correlations

V. Meininger, F. Salachas, D. Hannequin, 2017 .

SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype–phenotype correlations

V. Meininger, F. Salachas, D. Hannequin, 2010, Journal of Medical Genetics.

A. Verloes, L. Faivre, C. Thauvin-Robinet, 2018, Clinical Genetics.

The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy

J. Thevenon, L. Faivre, C. Philippe, 2012, Journal of Medical Genetics.

ITSN1: a novel candidate gene involved in autosomal dominant neurodevelopmental disorder spectrum

I. Thiffault, C. Brownstein, A. Bayat, 2021, European journal of human genetics : EJHG.

X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3

Shane A. McCarthy, Richard D Emes, Klaudia Walter, 2017, Nature Communications.

Neuropsychological and neuroimaging phenotype induced by a CAMTA1 mutation

L. Rumbach, J. Thevenon, L. Faivre, 2014, Brain and Development.

Phenotypic spectrum and incidence of TRPV4 mutations in patients with inherited axonal neuropathy

F. Chapon, R. Carlier, A. Echaniz-Laguna, 2014, Neurology.

Measurement of nasal potential difference in young children with an equivocal sweat test following newborn screening for cystic fibrosis

C. Thauvin-Robinet, I. Sermet-Gaudelus, I. Fajac, 2010, Thorax.

Renal insufficiency, a frequent complication with age in oral‐facial‐digital syndrome type I

A. Toutain, P. Jouk, L. Faivre, 2010, Clinical Genetics.

How to make a tongue: Cellular and molecular regulation of muscle and connective tissue formation during mammalian tongue development.

A. A. Birjandi, S. Iseki, C. Thauvin-Robinet, 2019, Seminars in cell & developmental biology.

Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole‐exome sequencing as a first‐line diagnostic test

J. Rivière, J. Thevenon, L. Faivre, 2016, Clinical genetics.

Association of Marfan's Syndrome and Turner's Syndrome

C. Thauvin-Robinet, F. Huet, A. Nivelon-Chevallier, 2001, Journal of pediatric endocrinology & metabolism : JPEM.

Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome

J. Mandel, B. Gilbert-Dussardier, J. Thevenon, 2017, European Journal of Human Genetics.

Ef fi cient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

Salima El-Chehadeh, J. Mandel, S. Gras, 2014 .

Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified cases

N. Drouot, A. Durr, M. Koenig, 2016, Journal of Neurology.

The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients

A. Toutain, Olivier Tassy, D. Lacombe, 2012, European Journal of Human Genetics.

Haploinsufficiency of the Primary Familial Brain Calcification Gene SLC20A2 Mediated by Disruption of a Regulatory Element

D. Campion, A. Boland, T. Frebourg, 2020, Movement disorders : official journal of the Movement Disorder Society.

Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature

M. Polak, N. Boddaert, A. Brice, 2017, Journal of Medical Genetics.

Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype

B. V. van Bon, A. Hoischen, H. Brunner, 2017, Journal of Medical Genetics.

Heterozygous deletion of the LRFN2 gene is associated with working memory deficits

R. Petralia, E. Guedj, J. Thevenon, 2015, European Journal of Human Genetics.

Primary progressive aphasias associated with C9orf72 expansions: Another side of the story

J. Pariente, M. Chupin, F. Pasquier, 2021, Cortex.

Expanding the Phenotype Associated with NAA10‐Related N‐Terminal Acetylation Deficiency

T. Arnesen, J. Rivière, G. Mancini, 2016, Human mutation.

Lung disease associated with periventricular nodular heterotopia and an FLNA mutation.

E. Haan, S. Robertson, L. Faivre, 2011, European journal of medical genetics.

C9ORF72 repeat expansions in the frontotemporal dementias spectrum of diseases: a flow-chart for genetic testing.

B. Dubois, J. Pariente, M. Ruberg, 2013, Journal of Alzheimer's disease : JAD.

Terminal Latency Index (TLI) Abnormalities in Hereditary Neuropathy withLiability to Pressure Palsies (HNPP)

M. Giroud, C. Thauvin-Robinet, P. Latour, 2015 .

Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speech

L. Faivre, H. Dollfus, P. Jonveaux, 2010, 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.

Incidental findings in a series of 2500 gene panel tests for a genetic predisposition to cancer: Results and Impact on patients.

C. Coutant, C. Lejeune, R. Boidot, 2021, European journal of medical genetics.

Secondary findings from whole-exome/genome sequencing evaluating stakeholder perspectives. A review of the literature.

C. Lejeune, R. Boidot, J. Thevenon, 2019, European journal of medical genetics.

A major determinant for binding and aminoacylation of tRNA(Ala) in cytoplasmic Alanyl-tRNA synthetase is mutated in dominant axonal Charcot-Marie-Tooth disease.

E. Broussolle, L. Faivre, C. Thauvin-Robinet, 2010, American journal of human genetics.

A New Presenilin-1 Missense Variant Associated With a Progressive Supranuclear Palsy-like Phenotype.

Y. Béjot, L. Faivre, Quentin Thomas, 2022, Alzheimer disease and associated disorders.

Outcome of kidney transplantation in type Ioral‐facial‐digital syndrome

K. Dahan, C. Thauvin-Robinet, O. Devuyst, 2011, Transplant international : official journal of the European Society for Organ Transplantation.

Plasma oxysterols: biomarkers for diagnosis and treatment in spastic paraplegia type 5

A. Durr, F. Lamari, G. Stevanin, 2018, Brain : a journal of neurology.

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.

Insulin response dysregulation explains abnormal fat storage and increased risk of diabetes mellitus type 2 in Cohen Syndrome.

E. Blair, L. Faivre, C. Thauvin-Robinet, 2015, Human molecular genetics.

Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability

C. Depienne, A. Toutain, C. Rooryck, 2017, Jornal de Pediatria.

Exome sequencing in clinical settings: preferences and experiences of parents of children with rare diseases (SEQUAPRE study)

J. Rivière, S. Béjean, J. Thevenon, 2019, European Journal of Human Genetics.

Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families

A. Munnich, C. Farra, A. Verloes, 2009, Journal of Medical Genetics.

Molecular analysis of Pericentrin gene (PCNT) in a series of 24 Seckel/ MOPD II families

A. Munnich, C. Farra, A. Verloes, 2009 .

ADGRL1 haploinsufficiency causes a variable spectrum of neurodevelopmental disorders in humans and alters synaptic activity and behavior in a mouse model.

J. Rosenfeld, P. Striano, F. Zara, 2022, American journal of human genetics.

Delineation of the 3p14.1p13 microdeletion associated with syndromic distal limb contractures

S. Vokes, P. Jouk, J. Thevenon, 2014, American journal of medical genetics. Part A.

Spondylocostal dysostosis, anal and genitourinary malformations in a fetal case: a new case of Casamassima-Morton-Nance syndrome?

L. Faivre, C. Thauvin-Robinet, P. Sagot, 2007, European journal of medical genetics.

Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants.

Ethan M. Goldberg, J. Gécz, M. Tress, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

TRIT1 deficiency: Two novel patients with four novel variants.

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

Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature

R. Pfundt, C. Creuzot-Garcher, P. Calvas, 2016, European Journal of Human Genetics.

Search for a gene responsible for Floating‐Harbor syndrome on chromosome 12q15q21.1

D. Lacombe, L. Faivre, C. Thauvin-Robinet, 2012, American journal of medical genetics. Part A.

Search for genomic imbalances in a cohort of 20 patients with oral–facial–digital syndromes negative for mutations and large rearrangements in the OFD1 gene

L. Faivre, C. Thauvin-Robinet, B. Franco, 2009, American journal of medical genetics. Part A.

Severe neonatal non‐dystrophic myotonia secondary to a novel mutation of the voltage‐gated sodium channel (SCN4A) gene

L. Faivre, C. Thauvin-Robinet, B. Hainque, 2008, American journal of medical genetics. Part A.

Retracted: Exploring the potential role of disease‐causing mutation in a gene desert: Duplication of noncoding elements 5′ of GRIA3 is associated with GRIA3 silencing and X‐linked intellectual disability

L. Faivre, C. Philippe, P. Jonveaux, 2012, Human mutation.

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.

Another observation with VATER association and a complex IV respiratory chain deficiency.

A. Munnich, P. Rustin, A. Rötig, 2006, European journal of medical genetics.

Should chromosome breakage studies be performed in patients with VACTERL association?

C. Mathew, G. Pals, D. Stoppa-Lyonnet, 2005, American journal of medical genetics. Part A.

Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility.

J. Sarles, J. Hugot, N. Katsanis, 2018, American journal of human genetics.

Neutralization of HSF1 in cells from PIK3CA-related overgrowth spectrum patients blocks abnormal proliferation.

C. Garrido, L. Faivre, C. Thauvin-Robinet, 2020, Biochemical and biophysical research communications.

Incomplete Timothy syndrome secondary to a mosaic mutation of the CACNA1C gene diagnosed using next‐generation sequencing

L. Faivre, C. Thauvin-Robinet, V. Probst, 2017, American journal of medical genetics. Part A.

CFTR p.Arg117His associated with CBAVD and other CFTR-related disorders

A. Valéri, C. Clavel, G. Karsenty, 2013, Journal of Medical Genetics.

GM3 synthase deficiency in non-Amish patients

C. Schwartz, J. Thevenon, L. Faivre, 2021, Genetics in Medicine.

Clinical and molecular data in cases of prenatal localized overgrowth disorder: major implication of genetic variants in PI3K‐AKT‐mTOR signaling pathway

L. Faivre, C. Philippe, C. Thauvin-Robinet, 2021, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

SCN5A-related cardiac channelopathy

C. Dina, A. Wilde, F. Charpentier, 2012 .

Array‐CGH in a series of 30 patients with mental retardation, dysmorphic features, and congenital malformations detected an interstitial 1p22.2‐p31.1 deletion in a patient with features overlapping the Goldenhar syndrome

L. Faivre, C. Thauvin-Robinet, P. D'Athis, 2008, American Journal of Medical Genetics. Part A.

Mutations in the ERCC2 (XPD) gene associated with severe fetal ichthyosis and dysmorphic features

D. Lipsker, J. Mandel, A. Weingertner, 2016, Prenatal diagnosis.

Cystoid maculopathy is a frequent feature of Cohen syndrome-associated retinopathy

J. Sahel, C. Creuzot-Garcher, G. Mancini, 2021, Scientific Reports.

Autosomal recessive truncating MAB21L1 mutation associated with a syndromic scrotal agenesis

J. Rivière, J. Deleuze, J. Thevenon, 2017, Clinical genetics.

3q27.3 microdeletional syndrome: a recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psychosis with mood disorder

B. Menten, Z. Tümer, J. Thevenon, 2013, Journal of Medical Genetics.

Retrotransposon insertion as a novel mutational cause of spinal muscular atrophy

S. Coutant, F. Lecoquierre, M. Vezain, 2022, Human Genetics.

Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.

J. Rosenfeld, A. V. Vulto-van Silfhout, E. Eichler, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders

J. Gécz, S. Robertson, R. Stevenson, 2022, 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.

Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11

R. Pfundt, A. Toutain, N. Philip, 2016, American journal of medical genetics. Part A.

Detection of relevant pharmacogenetic information through exome sequencing in oncology.

R. Boidot, L. Faivre, C. Thauvin-Robinet, 2022, Pharmacogenomics.

Correction: Corrigendum: The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery

E. Marcotte, Tae Joo Park, J. Wallingford, 2016, Nature Genetics.

Homozygous SMN1 exons 1–6 deletion: Pitfalls in genetic counseling and general recommendations for spinal muscular atrophy molecular diagnosis

M. Cossée, L. Faivre, B. Gérard, 2012, American journal of medical genetics. Part A.

[Genetic testing in asymptomatic minors: a survey among French geneticists].

A. Dürr, L. Faivre, C. Thauvin-Robinet, 2010, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Systematic search for neutropenia should be part of the first screening in patients with poikiloderma.

K. Macdermot, A. Toutain, L. Faivre, 2012, European journal of medical genetics.

Genomic deletions of OFD1 account for 23% of oral‐facial‐digital type 1 syndrome after negative DNA sequencing

T. Frebourg, L. Faivre, C. Thauvin-Robinet, 2009, Human mutation.

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.

Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials

R. Touraine, A. Toutain, N. Chassaing, 2021, Clinical genetics.

Cytogenetic and array‐CGH characterization of a 6q27 deletion in a patient with developmental delay and features of Ehlers–Danlos syndrome

A. De Paepe, L. Faivre, C. Thauvin-Robinet, 2010, American journal of medical genetics. Part A.

Angelman Syndrome: A Case Series Assessing Neurological Issues in Adulthood

Y. Béjot, M. Giroud, L. Faivre, 2014, European Neurology.

Refining the critical region for congenital diaphragmatic hernia on chromosome 15q26 from the study of four fetuses

L. Faivre, G. Lefort, C. Thauvin-Robinet, 2011, Prenatal diagnosis.

TCTN3 mutations cause Mohr-Majewski syndrome.

Colin A. Johnson, A. Munnich, Y. Ville, 2012, American journal of human genetics.

Severe prenatal renal anomalies associated with mutations in HNF1B or PAX2 genes.

R. Salomon, C. Antignac, U. Jensen, 2013, Clinical journal of the American Society of Nephrology : CJASN.

Written information to patients in clinical genetics: what's the impact?

S. Mercier, L. Faivre, C. Thauvin-Robinet, 2011, European journal of medical genetics.

Osteo-Oto-Hepato-Enteric Syndrome (O2HE) is caused by loss of function mutations in UNC45A

J. Sarles, J. Hugot, N. Katsanis, 2017, bioRxiv.

Delineation of EFTUD2 Haploinsufficiency‐Related Phenotypes Through a Series of 36 Patients

A. Munnich, N. Baena, A. Verloes, 2014, Human mutation.

What do French patients and geneticists think about prenatal and preimplantation diagnoses in Marfan syndrome?

G. Jondeau, J. Thevenon, L. Faivre, 2012, Prenatal diagnosis.

Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral–facial–digital syndrome with short stature and brachymesophalangia

G. Pazour, J. Rivière, J. Thevenon, 2016, Clinical genetics.

Infantile systemic hyalinosis: a case with atypical prolonged survival

L. Faivre, C. Thauvin-Robinet, F. Huet, 2001, Acta paediatrica.

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.

A prenatal case of inverted duplication with terminal deletion of 5p not including the cat‐like cry critical region

L. Faivre, C. Thauvin-Robinet, P. Sagot, 2011, American journal of medical genetics. Part A.

Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: toward recommendation for molecular testing and management

C. Fagour, P. Njølstad, J. Bernstein, 2016, Clinical genetics.

Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia

A. Toutain, P. Calvas, N. Chassaing, 2014, Clinical genetics.

Recurrence of SOX2 anophthalmia syndrome with gonosomal mosaicism in a phenotypically normal mother

C. Hayward, D. Fitzpatrick, L. Faivre, 2006, American journal of medical genetics. Part A.

20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition

Claire Redin, Jean Muller, Laurence Faivre, 2013, European Journal of Human Genetics.

Polymicrogyria, cerebellar vermis hypoplasia, severe facial dysmorphism and cleft palate: a new syndrome?

L. Faivre, C. Thauvin-Robinet, J. Gouyon, 2007, European journal of medical genetics.

Tubulopathy and pancytopaenia with normal pancreatic function: a variant of Pearson syndrome.

A. Fischer, A. Munnich, A. Rötig, 2009, European journal of medical genetics.

C5orf42 is the major gene responsible for OFD syndrome type VI

H. Kayserili, J. Rivière, D. Lacombe, 2014, Human Genetics.

Prenatal overgrowth and mosaic trisomy 15q25‐qter including the IGF1 receptor gene

L. Faivre, C. Thauvin-Robinet, P. Sagot, 2004, Prenatal diagnosis.

TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome

Colin A. Johnson, M. Huynen, S. Saunier, 2015, Nature Cell Biology.

SCA15 due to large ITPR1 deletions in a cohort of 333 white families with dominant ataxia.

Janel O. Johnson, D. Hernandez, A. Singleton, 2011, Archives of neurology.

The adolescent and adult form of cobalamin C disease: clinical and molecular spectrum

D. Grabli, M. Giroud, F. Sedel, 2007, Journal of Neurology, Neurosurgery, and Psychiatry.

Mosaic‐activating FGFR2 mutation in two fetuses with papillomatous pedunculated sebaceous naevus

F. Dhombres, J. Rivière, M. Gonzalès, 2017, The British journal of dermatology.

Cerebriform sebaceous nevus: a subtype of organoid nevus due to specific postzygotic FGFR2 mutations

L. Faivre, C. Philippe, C. Thauvin-Robinet, 2021, Journal of the European Academy of Dermatology and Venereology : JEADV.

Polymicrogyria in a child with inv dup del(9p) and 22q11.2 microduplication

L. Faivre, C. Thauvin-Robinet, P. Callier, 2009, American journal of medical genetics. Part A.

Loss of Function Mutation in the Palmitoyl-Transferase HHAT Leads to Syndromic 46,XY Disorder of Sex Development by Impeding Hedgehog Protein Palmitoylation and Signaling

S. Antonarakis, M. Resh, B. Conne, 2014, PLoS genetics.

Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development

A. Munnich, A. Molven, O. Bruland, 2011, Journal of Medical Genetics.

Deciphering exome sequencing data: Bringing mitochondrial DNA variants to light

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

Recurrence of achondrogenesis type II within the same family: Evidence for germline mosaicism

G. Mortier, L. Faivre, C. Thauvin-Robinet, 2004, American journal of medical genetics. Part A.

Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond–like features

Magalie S Leduc, M. Konantz, C. Lengerke, 2017, The Journal of clinical investigation.

Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life.

A. Toutain, J. Rivière, J. Thevenon, 2014, American journal of human genetics.

Exposure to hydroxyurea during pregnancy: a case series

C. Thauvin-Robinet, R. Casasnovas, S. Douvier, 2001, Leukemia.

Diagnostic strategy in segmentation defect of the vertebrae: a retrospective study of 73 patients

S. Julia, J. Rivière, A. Verloes, 2018, Journal of Medical Genetics.

NOTCH, a new signaling pathway implicated in holoprosencephaly.

T. Bohan, I. Gicquel, V. Dupé, 2011, Human molecular 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.

A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability

T. Bourgeron, R. Delorme, D. Campion, 2015, European Journal of Human Genetics.

6q16.3q23.3 duplication associated with Prader-Willi-like syndrome

J. Thevenon, L. Faivre, C. Thauvin-Robinet, 2015, Molecular Cytogenetics.

Delineation of a new chromosome 20q11.2 duplication syndrome including the ASXL1 gene

L. Faivre, C. Thauvin-Robinet, S. Kjaergaard, 2013, American journal of medical genetics. Part A.

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.

Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development

L. Richards, A. Barkovich, A. Afenjar, 2018, Neuron.

A de novo nonsense PDGFB mutation causing idiopathic basal ganglia calcification with laryngeal dystonia

Y. Béjot, M. Giroud, D. Campion, 2014, European Journal of Human Genetics.

Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification.

L. Defebvre, J. Pariente, M. Vérin, 2013, Brain : a journal of neurology.

Novel mutations in EPM2A and NHLRC1 widen the spectrum of Lafora disease

P. Ryvlin, L. Maillard, P. Genton, 2010, Epilepsia.

Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders

J. Gécz, S. Robertson, R. Stevenson, 2021, HGG advances.

Delineation of 15q13.3 microdeletions

M. Holder, L. Vallée, B. Gilbert-Dussardier, 2010, Clinical genetics.

A GWAS in Latin Americans identifies novel face shape loci, implicating VPS13B and a Denisovan introgressed region in facial variation

T. Spector, D. Balding, G. Bedoya, 2021, Science Advances.

Overlapping phenotypes between SHORT and Noonan syndromes in patients with PTPN11 pathogenic variants

C. Vigouroux, A. Verloes, J. Thevenon, 2020, Clinical genetics.

Homozygous Truncating Intragenic Duplication in TUSC3 Responsible for Rare Autosomal Recessive Nonsyndromic Intellectual Disability with No Clinical or Biochemical Metabolic Markers.

J. Thevenon, L. Faivre, P. Jonveaux, 2015, JIMD reports.

What can we learn from old microdeletion syndromes using array‐CGH screening?

L. Faivre, P. Jonveaux, C. Thauvin-Robinet, 2012, Clinical 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.

Genome sequencing in cytogenetics: Comparison of short‐read and linked‐read approaches for germline structural variant detection and characterization

Patrick Callier, Antonio Vitobello, Yannis Duffourd, 2020, Molecular genetics & genomic medicine.

ITSN1: a novel candidate gene involved in autosomal dominant neurodevelopmental disorder spectrum

I. Thiffault, C. Brownstein, A. Bayat, 2021, European Journal of Human Genetics.

Mutations in SLC 13 A 5 Cause Autosomal-Recessive Epileptic Encephalopathy with Seizure Onset in the First Days of Life

Anne de Saint Martin, A. Toutain, J. Rivière, 2017 .

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

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

9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping

V. Dulieu, P. Jouk, C. Rooryck, 2015, European Journal of Human Genetics.

An Improved Method to Extract DNA from 1 ml of Uncultured Amniotic Fluid from Patients at Less than 16 Weeks’ Gestation

J. Thevenon, L. Faivre, C. Thauvin-Robinet, 2013, PloS one.

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.

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.

Germline correction of an epimutation related to Silver-Russell syndrome.

D. Bourc’his, L. Faivre, C. Thauvin-Robinet, 2015, Human molecular 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.

Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability

C Binquet, A. Mégarbané, A. Toutain, 2013, Clinical genetics.

PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy.

Patrick Callier, Laurence Faivre, Christel Thauvin-Robinet, 2013, American journal of human genetics.

A constitutive BCL2 down-regulation aggravates the phenotype of PKD1-mutant-induced polycystic kidney disease

E. Solary, R. Loffroy, J. Thevenon, 2017, Human molecular genetics.

Contribution of array CGH in prognosis and genetic counselling of prenatally diagnosed supernumerary ring chromosome 20

L. Faivre, C. Thauvin-Robinet, P. Sagot, 2009, Prenatal diagnosis.

Multiple cysts of the corpus callosum and psychomotor delay in a patient with a 3.1 Mb 15q24.1q24.2 interstitial deletion identified by array‐CGH

M. Giroud, L. Faivre, C. Thauvin-Robinet, 2009, American journal of medical genetics. Part A.

12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech

Patrick Callier, Laurence Faivre, Christel Thauvin-Robinet, 2012, European Journal of Human Genetics.

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.

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.

M. Shaw, N. de Leeuw, J. Gécz, 2020, American journal of human genetics.

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes

A. Munnich, R. Hennekam, N. Katsanis, 2011, Nature Genetics.

Cerebral dysgenesis does not exclude OFD I syndrome

L. Faivre, C. Thauvin-Robinet, B. Franco, 2011, American journal of medical genetics. Part A.

Syndromic encephalocele in a fetal case with a 1p35‐pter deletion and a 14q32‐qter duplication inherited from a maternal balanced translocation

L. Faivre, C. Thauvin-Robinet, P. Sagot, 2007, Prenatal diagnosis.

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.

Detection of an interstitial 3q21.1‐q21.3 deletion in a child with multiple congenital abnormalities, mental retardation, pancytopenia, and myelodysplasia

L. Faivre, C. Thauvin-Robinet, P. D'Athis, 2009, American journal of medical genetics. Part A.

Kosaki overgrowth syndrome: A novel pathogenic variant in PDGFRB and expansion of the phenotype including cerebrovascular complications

L. Faivre, C. Philippe, C. Thauvin-Robinet, 2020, Clinical genetics.

Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features

S. Julia, R. Touraine, A. Afenjar, 2018, Journal of Medical Genetics.

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

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

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.

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.

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.

Exome sequencing in clinical settings: preferences and experiences of parents of children with rare diseases (SEQUAPRE study)

J. Rivière, S. Béjean, J. Thevenon, 2019, European Journal of Human 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.

Update on oral-facial-digital syndromes (OFDS)

C. Thauvin-Robinet, B. Franco, 2016, Cilia.

Secondary findings from next generation sequencing: Psychological and ethical issues. Family and patient perspectives.

L. Faivre, C. Thauvin-Robinet, O. Putois, 2019, European journal of medical genetics.

Intragenic CAMTA1 rearrangements cause non-progressive congenital ataxia with or without intellectual disability

L. Gallagher, E. Haffen, C. Depienne, 2012, Journal of Medical Genetics.

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.

Prenatal diagnosis and intrafamilial clinical heterogeneity of Fraser syndrome

L. Faivre, C. Thauvin-Robinet, P. Sagot, 2002, Prenatal diagnosis.

De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation

R. Pfundt, J. Ganesh, B. Menten, 2018, Nature 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.

The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery

E. Marcotte, Tae Joo Park, J. Wallingford, 2016, Nature 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.

Toward clinical and molecular dissection of frontonasal dysplasia with facial skin polyps: From Pai syndrome to differential diagnosis through a series of 27 patients

G. Captier, M. Vezain, J. Roume, 2022, American journal of medical genetics. Part A.

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.

M. Shaw, N. de Leeuw, J. Gécz, 2021, American journal of human genetics.

Cardiomyopathy due to PRDM16 mutation: First description of a fetal presentation, with possible modifier genes

L. Faivre, C. Philippe, C. Thauvin-Robinet, 2020, American journal of medical genetics. Part C, Seminars in medical genetics.

Report of the first patient with a homozygous OTUD7A variant responsible for epileptic encephalopathy and related proteasome dysfunction

E. Krüger, S. Auvin, A. Verloes, 2019, Clinical genetics.

Further delineation of the clinical spectrum of de novo TRIM8 truncating mutations

W. Chung, O. Devinsky, D. Lowenstein, 2018, American journal of medical genetics. Part A.

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.

Homozygous FIBP nonsense variant responsible of syndromic overgrowth, with overgrowth, macrocephaly, retinal coloboma and learning disabilities

J. Rivière, J. Thevenon, L. Faivre, 2016, Clinical genetics.

OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairment

A. Munnich, N. Boddaert, R. Touraine, 2013, Clinical 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.

Hypomandibular faciocranial dysostosis in consanguineous parents revealed by ultrasound prenatal diagnosis

L. Faivre, C. Thauvin-Robinet, V. Cormier-Daire, 2002, Prenatal diagnosis.

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.

Cloacal exstrophy in an infant with 9q34.1‐qter deletion resulting from a de novo unbalanced translocation between chromosome 9q and Yq

L. Faivre, M. Fellous, C. Thauvin-Robinet, 2004, American journal of medical genetics. Part A.

OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin.

J. Veltman, S. Letteboer, R. Roepman, 2009, American journal of human genetics.

MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone

E. Valente, J. Rivière, J. Reiter, 2016, PLoS biology.

Detailed clinical, genetic and neuroimaging characterization of OFD VI syndrome.

D. Lacombe, L. Pasquier, M. Gonzalès, 2013, European journal of medical genetics.

Oral-facial-digital syndrome type I cells exhibit impaired DNA repair; unanticipated consequences of defective OFD1 outside of the cilia network

C. Thauvin-Robinet, M. O’Driscoll, Daniela Iaconis, 2016, Human molecular genetics.

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.

H. Mefford, G. Cooper, N. Paul, 2019, American journal of human genetics.

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

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

Smith‐Magenis syndrome: Clinical and behavioral characteristics in a large retrospective cohort

N. Philip, A. Verloes, D. Lacombe, 2020, Clinical 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.

Expanding the Allelic Heterogeneity of ANO10-Associated Autosomal Recessive Cerebellar Ataxia

H. Hakonarson, Yiran Guo, S. Sandaradura, 2023, Neurology: Genetics.

A new family with an SLC9A6 mutation expanding the phenotypic spectrum of Christianson syndrome

N. Philip, J. Mandel, J. Thevenon, 2016, American journal of medical genetics. Part A.

The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation

A. Munnich, J. García-Verdugo, A. Mégarbané, 2014, Nature 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.

Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity

C. Depienne, F. Saudou, C. Bacino, 2020, Nature Communications.

De Novo Mutations in SLC25A24 Cause a Disorder Characterized by Early Aging, Bone Dysplasia, Characteristic Face, and Early Demise.

R. Hennekam, A. V. van Kuilenburg, P. Lapunzina, 2017, American journal of human 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.

De novo 15q21.1q21.2 deletion identified through FBN1 MLPA and refined by 244K array-CGH in a female teenager with incomplete Marfan syndrome.

V. Dulieu, G. Jondeau, M. Claustres, 2010, European journal of medical genetics.

In utero ultrasound diagnosis of corpus callosum agenesis leading to the identification of orofaciodigital type 1 syndrome in female fetuses

P. Sonigo, M. Gonzalès, L. Faivre, 2018, Birth defects research.

Clinical, molecular, and genotype–phenotype correlation studies from 25 cases of oral–facial–digital syndrome type 1: a French and Belgian collaborative study

G. Mortier, A. Toutain, M. Cossée, 2005, Journal of Medical Genetics.

CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study

L. Pasquier, S. Lyonnet, C. Thauvin-Robinet, 2014, Orphanet Journal of Rare Diseases.

Familial orofaciodigital syndrome type I revealed by ultrasound prenatal diagnosis of porencephaly

L. Faivre, C. Thauvin-Robinet, P. Sagot, 2001, Prenatal diagnosis.

[Impact of maternal age distribution on the expected live birth prevalence of Down's syndrome in the metropolitan France between 1965 and 2008].

C. Thauvin-Robinet, P. Sagot, J. Gouyon, 2010, Journal de gynecologie, obstetrique et biologie de la reproduction.

New insights into CC2D2A-related Joubert syndrome

F. Rivier, C. Garel, A. Afenjar, 2022, Journal of Medical Genetics.

OFD 1 Is Mutated in X-Linked Joubert Syndrome and Interacts with LCA 5-Encoded Lebercilin

J. Veltman, S. Letteboer, R. Roepman, 2009 .

Compassionate use of everolimus for refractory epilepsy in a patient with MTOR mosaic mutation.

J. Rivière, L. Faivre, C. Thauvin-Robinet, 2020, European journal of medical 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.

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

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

Diagnostic criteria in Pai syndrome: results of a case series and a literature review.

M. Vazquez, C. Thauvin-Robinet, J. Amiel, 2019, International journal of oral and maxillofacial surgery.

Hypochondroplasia and stature within normal limits: Another family with an Asn540Ser mutation in the fibroblast growth factor receptor 3 gene

L. Faivre, J. Bonaventure, C. Thauvin-Robinet, 2003, American journal of medical genetics. Part A.

Homozygosity mapping of a Dyggve-Melchior-Clausen syndrome gene to chromosome 18q21.1

A. Munnich, A. Mégarbané, V. El Ghouzzi, 2002, Journal of Medical Genetics.

Surgical management of Chiari malformation type 1 associated to MCAP syndrome and study of cerebellar and adjacent tissues for PIK3CA mosaicism.

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

The Economic, Medical and Psychosocial Consequences of Whole Genome Sequencing for the Genetic Diagnosis of Patients With Intellectual Disability: The DEFIDIAG Study Protocol

F. Guillemin, C. Lejeune, A. Boland, 2022, Frontiers in Genetics.

Associations between cognitive performance and the rehabilitation, medical care and social support provided to French children with Prader-Willi syndrome.

N. Philip, A. Verloes, C. Lejeune, 2020, European journal of medical genetics.

Additional evidence to support the role of the 20q13.33 region in susceptibility to autism

Nathalie Lagarde, L. Faivre, P. Jonveaux, 2013, American journal of medical genetics. Part A.

Detection of the novel allele, HLA‐A*32:165, in a French individual by next‐generation sequencing

C. Thauvin-Robinet, M. Chevarin, Simon Verdez, 2022, HLA.

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.

Compound heterozygous PKHD1 variants cause a wide spectrum of ductal plate malformations

J. Rivière, J. Thevenon, L. Faivre, 2015, American journal of medical genetics. Part A.

In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome.

P. Robinson, E. Arbustini, C. Béroud, 2012, American journal of human genetics.

Executive functioning in adolescents and adults with Silver-Russell syndrome

A. Toutain, B. Donadille, L. Faivre, 2023, PloS one.

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.

Untreated growth hormone deficiency with extremely short stature, bone dysplasia, cleft lip--palate and severe mental retardation in a 26-year-old man with a de novo unbalanced translocation t(1;12)(q24;q24).

L. Faivre, C. Thauvin-Robinet, G. Malka, 2007, European journal of medical genetics.

Multifocal Ectopic Purkinje-Related Premature Contractions A New SCN5A -Related Cardiac Channelopathy

C. Dina, A. Wilde, F. Charpentier, 2012 .

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.

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.

Severe X‐linked chondrodysplasia punctata in nine new female fetuses

A. Toutain, J. Rivière, M. Gonzalès, 2015, Prenatal diagnosis.

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.

A new cohort of MECP2 mutation screening in unexplained mental retardation: Careful re‐evaluation is the best indicator for molecular diagnosis

V. Dulieu, L. Faivre, C. Thauvin-Robinet, 2006, American journal of medical genetics. Part A.

6q16.3q23.3 duplication associated with Prader-Willi-like syndrome

J. Thevenon, L. Faivre, C. Thauvin-Robinet, 2015, Molecular Cytogenetics.

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.

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.

Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis

P. Rump, E. Blair, L. Faivre, 2012, European Journal of Human Genetics.

GLI3 is rarely implicated in OFD syndromes with midline abnormalities

L. Pasquier, J. Thevenon, L. Faivre, 2011, Human mutation.

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

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

SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability

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

Craniosynostosis, anal anomalies, and porokeratosis (CDAGS syndrome): case report and literature review.

E. Chouery, A. Mégarbané, L. Faivre, 2013, European journal of medical genetics.

Contribution of three‐dimensional computed tomography in prenatal diagnosis of lethal infantile cortical hyperostosis (Caffey disease)

L. Faivre, C. Thauvin-Robinet, V. Cormier-Daire, 2009, Prenatal diagnosis.

Severe lactic acidosis and acute thiamin deficiency: A report of 11 neonates with unsupplemented total parenteral nutrition

L. Faivre, C. Thauvin-Robinet, J. Saudubray, 2004, Journal of Inherited Metabolic Disease.

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.

Microcephaly is not mandatory for the diagnosis of mosaic variegated aneuploidy syndrome

L. Faivre, C. Thauvin-Robinet, P. Sagot, 2005, American journal of medical genetics. Part A.

Expanding the clinical phenotype of patients with a ZDHHC9 mutation

J. Thevenon, V. Kalscheuer, L. Faivre, 2014, American Journal of Medical Genetics. Part A.

A new mutational hotspot in the SKI gene in the context of MFS/TAA molecular diagnosis

J. Clayton-Smith, G. Jondeau, D. Bonneau, 2020, Human Genetics.

Asymmetric crying facies in an elderly, when a facial asymmetry is not a facial paralysis but a marker of possible congenital malformations: case report and review of the literature

C. Thauvin-Robinet, M. Giroud, S. Nambot, 2022, Neurological Sciences.

Re-focusing on Agnathia-Otocephaly complex

P. Calvas, N. Chassaing, D. Lacombe, 2020, Clinical Oral Investigations.

[Variations in the prevalence of Down's syndrome in the French population between 1978 and 2005].

C. Thauvin-Robinet, P. Sagot, J. Gouyon, 2010, Journal de gynecologie, obstetrique et biologie de la reproduction.

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.

OFIP/KIAA0753 forms a complex with OFD1 and FOR20 at pericentriolar satellites and centrosomes and is mutated in one individual with oral-facial-digital syndrome.

M. Huynen, D. Birnbaum, J. Rivière, 2016, Human molecular 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.

Novel KIAA1033/WASHC4 mutations in three patients with syndromic intellectual disability and a review of the literature

K. Dent, J. Thevenon, L. Faivre, 2020, American journal of medical genetics. Part A.

Clinical spectrum of eye malformations in four patients with Mowat–Wilson syndrome

C. Creuzot-Garcher, J. Thevenon, S. Lyonnet, 2015, American journal of medical genetics. Part A.

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.

A new osteochondrodysplasia with severe osteopenia, preaxial polydactyly, clefting and dysmorphic features resembling filamin‐related disorders

S. Robertson, L. Faivre, C. Thauvin-Robinet, 2006, Prenatal diagnosis.

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.

Major feeding difficulties in the first reported case of interstitial 20q11.22‐q12 microdeletion and molecular cytogenetic characterization

L. Faivre, C. Thauvin-Robinet, M. Prieur, 2006, American journal of medical genetics. Part A.

Quality of life and mental health of adolescents and adults with Silver-Russell syndrome.

A. Toutain, B. Donadille, L. Faivre, 2022, European journal of medical genetics.

WS11.6 Newborn screening for cystic fibrosis: Rationale for p.Arg117His (R117H) removal from the CFTR mutation panel in France

C. Thauvin-Robinet, M. Audrézet, E. Girodon, 2015 .

Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease

Rebecca C. Spillmann, Q. K. Tan, J. Lupski, 2023, medRxiv.

De Novo 21q22.1q22.2 deletion including RUNX1 mimicking a congenital infection

J. Thevenon, L. Faivre, P. Jonveaux, 2011, American journal of medical genetics. Part A.

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.

Biallelic SCN10A mutations in neuromuscular disease and epileptic encephalopathy

J. Mullikin, A. Bassuk, W. Gahl, 2016, Annals of clinical and translational neurology.

De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation

R. Pfundt, J. Ganesh, B. Menten, 2018, Nature Genetics.

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.

Epileptic encephalopathy as a new feature of the sudden infant death with dysgenesis of the testes syndrome caused by TSPYL1 variants

L. Faivre, C. Philippe, C. Thauvin-Robinet, 2022, American journal of medical genetics. Part A.

Expanding the clinical spectrum of mosaic BRAF skin phenotypes

J. Rivière, L. Faivre, C. Philippe, 2021, Journal of the European Academy of Dermatology and Venereology : JEADV.

Characterization of Vps13b-mutant mice reveals neuroanatomical and behavioral phenotypes with females less affected

B. Yalcin, L. Faivre, C. Thauvin-Robinet, 2023, Neurobiology of Disease.

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.

Experience and expectations of pharmacogenetic tests in France.

L. Faivre, C. Thauvin-Robinet, Y. Duffourd, 2023, Therapie.

SCA15 due to large ITPR1 deletions in a cohort of 333 white families with dominant ataxia.

Janel O. Johnson, D. Hernandez, A. Singleton, 2011, Archives of neurology.

C5orf42 is the major gene responsible for OFD syndrome type VI

H. Kayserili, J. Rivière, D. Lacombe, 2013, Human 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.

Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life.

A. Toutain, J. Rivière, J. Thevenon, 2014, American journal of human genetics.

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.

Multifocal ectopic Purkinje-related premature contractions: a new SCN5A-related cardiac channelopathy.

F. Charpentier, Y. Coudière, L. Faivre, 2012, Journal of the American College of Cardiology.

Multifocal Ectopic Purkinje-related Premature Contractions a New Scn5a-related Cardiac Channelopathy

F. Charpentier, Y. Coudière, C. Thauvin-Robinet, 2022 .

The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation

A. Munnich, J. García-Verdugo, A. Mégarbané, 2014, Nature Genetics.

The Oral-facial-digital Syndrome Gene C2cd3 Encodes a Positive Regulator of Centriole Elongation Hhs Public Access Author Manuscript Results and Discussion Online Methods Genome-wide Snp Genotyping and Homozygosity Mapping Genome-wide Snp Genotyping Was Performed Using the Human Mapping 500k Nsp Arr

J. García-Verdugo, C. Thauvin-Robinet, V. Herranz-Pérez, 2022 .

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

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

Patient satisfaction, experience and preferences in the implementation of genetics teleconsultations in the North-eastern region of France

C. Thauvin-Robinet, A. Bertaut, C. Cabrol, 2023, European Journal of Medical Genetics.

Novel mutations in EPM2A and NHLRC1 widen the spectrum of Lafora disease

P. Ryvlin, L. Maillard, P. Genton, 2010, Epilepsia.

Refining the critical region for congenital diaphragmatic hernia on chromosome 15q26 from the study of four fetuses

C. Thauvin-Robinet, J. Andrieux, P. Sagot, 2011, Prenatal diagnosis.

FOXG1 variants can be associated with milder phenotypes than congenital Rett syndrome with unassisted walking and language development.

A. Pinto, C. Thauvin-Robinet, C. Fallerini, 2024, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Delineation of a new chromosome 20q11.2 duplication syndrome including the ASXL1 gene

L. Faivre, C. Thauvin-Robinet, S. Kjaergaard, 2013, American journal of medical genetics. Part A.

Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.

J. Rosenfeld, A. V. Vulto-van Silfhout, E. Eichler, 2023, Genetics in Medicine.