P. Saugier-Veber

发表

Identification of mobile retrocopies during genetic testing: Consequences for routine diagnosis

A. Toutain, A. Wilkie, J. Galbany, 2019, Human mutation.

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.

Complete germline deletion of the STK11 gene in a family with Peutz–Jeghers syndrome

T. Frebourg, Cosette Martin, N. Meur, 2004, European Journal of Human Genetics.

Mutations of ARX are associated with striking pleiotropy and consistent genotype–phenotype correlation

E. Zackai, Soma Das, A. Toutain, 2004, Human mutation.

Human lissencephaly with cerebellar hypoplasia due to mutations in TUBA1A: expansion of the foetal neuropathological phenotype

A. Laquérriere, J. Chelly, G. Friocourt, 2010, Acta Neuropathologica.

A de novo variant in ADGRL2 suggests a novel mechanism underlying the previously undescribed association of extreme microcephaly with severely reduced sulcation and rhombencephalosynapsis

A. Laquérriere, T. Frebourg, S. Coutant, 2018, Acta Neuropathologica Communications.

Hydrocephalus due to multiple ependymal malformations is caused by mutations in the MPDZ gene

A. Laquérriere, T. Frebourg, F. Lecoquierre, 2017, Acta Neuropathologica Communications.

Clinical and molecular characterization of cystinuria in a French cohort: relevance of assessing large‐scale rearrangements and splicing variants

T. Frebourg, B. Knebelmann, Abdellah Tebani, 2017, Molecular genetics & genomic medicine.

A. Afenjar, T. Roscioli, A. Verloes, 2018, neurogenetics.

Identification of a novel mutation in the autoimmune regulator (AIRE-1) gene in a French family with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.

N. Drouot, T. Frebourg, P. Saugier-Veber, 2001, European journal of endocrinology.

Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency

B. Drénou, S. Coutant, N. Elçioglu, 2021, Journal of Medical Genetics.

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.

Large CACNA 1 A Deletion in a Family With Episodic Ataxia Type 2

E. Tournier-Lasserve, P. Saugier-Veber, F. Riant, 2008 .

Wiedemann‐Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French cases

A. Afenjar, N. Philip, D. Lacombe, 2018, Clinical genetics.

Pontocerebellar hypoplasia with rhombencephalosynapsis and microlissencephaly expands the spectrum of PCH type 1B.

A. Laquérriere, T. Frebourg, M. Vezain, 2019, European journal of medical genetics.

Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use

D. Campion, O. Guillin, V. Drouin‐Garraud, 2020, Translational Psychiatry.

CCM molecular screening in a diagnosis context: novel unclassified variants leading to abnormal splicing and importance of large deletions

E. Tournier-Lasserve, P. Saugier-Veber, F. Riant, 2013, neurogenetics.

This is a repository copy of Serological proteome analysis reveals new specific biases in the IgM and IgG autoantibody repertoires in autoimmune polyendocrine syndrome type 1

Sophie Duban-deweer, P. Saugier-Veber, S. Dubucquoi, 2018 .

Serological proteome analysis reveals new specific biases in the IgM and IgG autoantibody repertoires in autoimmune polyendocrine syndrome type 1

J. Wemeau, Sophie Duban-deweer, P. Saugier-Veber, 2015, Autoimmunity.

Polyglandular autoimmune syndrome type I.

J. Wemeau, P. Saugier-Veber, E. Proust-Lemoine, 2012, Presse medicale.

Polyendocrinopathies auto-immunes de type 1

J. Weill, J. Carel, J. Wemeau, 2010 .

Autoimmune Polyendocrine Syndrome Type 1 in North-Western France: AIRE Gene Mutation Specificities and Severe Forms Needing Immunosuppressive Therapies

J. Weill, J. Wemeau, J. Lalau, 2010, Hormone Research in Paediatrics.

Clinical assessment of five patients with BRWD3 mutation at Xq21.1 gives further evidence for mild to moderate intellectual disability and macrocephaly.

J. Schuurs-Hoeijmakers, V. Drouin‐Garraud, H. van Bokhoven, 2014, European journal of medical genetics.

Neuropathological hallmarks of fetal hydrocephalus linked to CCDC88C pathogenic variants

N. Drouot, A. Laquérriere, K. Cassinari, 2021, Acta neuropathologica communications.

Searching for secondary findings: considering actionability and preserving the right not to know

A. Munnich, S. Julia, P. Calvas, 2019, European Journal of Human Genetics.

The intrafamilial variability of the 22q11.2 microduplication encompasses a spectrum from minor cognitive deficits to severe congenital anomalies

A. Laquérriere, T. Frebourg, L. Marpeau, 2006, American journal of medical genetics. Part A.

Myoclonus in fraternal twin toddlers: a French family with a novel mutation in the SGCE gene.

F. Giuliano, P. Saugier-Veber, O. Pincemaille, 2009, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Myoclonus dystonia plus syndrome due to a novel 7q21 microdeletion

N. Drouot, V. Czernecki, T. Frebourg, 2010, American journal of medical genetics. Part A.

uORF‐introducing variants in the 5′UTR of the NIPBL gene as a cause of Cornelia de Lange syndrome

N. Drouot, O. Quenez, K. Cassinari, 2022, Human mutation.

A cryopyrin-associated periodic syndrome with joint destruction.

T. Frebourg, X. le Loët, A. Goldenberg, 2006, Rheumatology.

Variable expressivity of the clinical and biochemical phenotype associated with the apolipoprotein E p.Leu149del mutation

T. Frebourg, L. Faivre, P. Gambert, 2005, European Journal of Human Genetics.

Giant diencephalic harmartoma and related anomalies: A newly recognized entity distinct from the Pallister–Hall syndrome

C. Garel, J. Oury, V. Drouin‐Garraud, 2009, American journal of medical genetics. Part A.

XNP mutation in a large family with Juberg-Marsidi syndrome

A. Munnich, S. Lyonnet, L. Villard, 1996, Nature Genetics.

Prenatal Three-Dimensional Ultrasound Detection of Adducted Thumbs in X-Linked Hydrocephaly: Two Case Reports with Molecular Genetic Studies

P. Saugier-Veber, W. Sepulveda, E. Corral, 2015, Case reports in obstetrics and gynecology.

Exome sequencing identifies the first genetic determinants of sirenomelia in humans

C. V. van Ravenswaaij-Arts, T. Frebourg, S. Coutant, 2020, Human mutation.

Keratopathy in Autoimmune Polyendocrinopathy Syndrome Type 1

J. Bertherat, A. Brézin, J. Carel, 2015, Cornea.

Contribution of DNA methylation profiling to the reclassification of a variant of uncertain significance in the KDM5C gene.

S. Coutant, F. Lecoquierre, B. Sadikovic, 2022, European journal of medical genetics.

Large CACNA1A deletion in a family with episodic ataxia type 2.

E. Tournier-Lasserve, P. Saugier-Veber, F. Riant, 2008, Archives of neurology.

Neurological presentation of a congenital disorder of glycosylation CDG-Ia: implications for diagnosis and genetic counseling.

V. Drouin‐Garraud, T. Frebourg, G. Matthijs, 2000, American journal of medical genetics.

Apparent segregation of null alleles ascribed to deletions of the ornithine transcarbamylase gene in congenital hyperammonaemia

A. Munnich, S. Lyonnet, D. Rabier, 1995, Prenatal diagnosis.

Significant contribution of intragenic deletions to ARID1B mutation spectrum

A. Afenjar, N. Philip, V. Cormier-Daire, 2019, Genetics in Medicine.

Epidemiology and diagnosis of invasive pulmonary aspergillosis in bone marrow transplant patients: results of a 5 year retrospective study.

F. Derouin, E. Gluckman, A. Sulahian, 1993, Bone marrow transplantation.

Retrotransposon insertion as a novel mutational cause of spinal muscular atrophy

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

A leaky splicing mutation affecting SMN1 exon 7 inclusion explains an unexpected mild case of spinal muscular atrophy

T. Frebourg, M. Vezain, J. Vallat, 2011, Human mutation.

Genetic compensation in a human genomic disorder.

P. Kuhn, T. Frebourg, G. Rudolf, 2009, The New England journal of medicine.

Golli‐MBP Copy Number Analysis by FISH, QMPSF and MAPH in 195 Patients with Hypomyelinating Leukodystrophies

E. Bertini, R. Schiffmann, T. Frebourg, 2006, Annals of human genetics.

Molecular characterization of MPS IIIA, MPS IIIB and MPS IIIC in Tunisian patients.

A. Lavoinne, A. Miled, P. Saugier-Veber, 2011, Clinica chimica acta; international journal of clinical chemistry.

Segregation of a missense mutation in the microtubule-associated protein tau gene with familial frontotemporal dementia and parkinsonism.

Y. Agid, B. Dubois, D. Campion, 1998, Human molecular genetics.

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.

A sensitive assay for measuring SMN mRNA levels in peripheral blood and in muscle samples of patients affected with spinal muscular atrophy

J. Melki, A. Toutain, T. Frebourg, 2007, European Journal of Human Genetics.

Inference of Diagnostic Markers and Therapeutic Targets From CSF Proteomics for the Treatment of Hydrocephalus

A. Horowitz, P. Saugier-Veber, V. Gilard, 2020, bioRxiv.

X-linked partial corpus callosum agenesis with mild intellectual disability: identification of a novel L1CAM pathogenic variant

R. Touraine, B. Gérard, A. Piton, 2021, neurogenetics.

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.

Detection of heterozygousSMN1 deletions in SMA families using a simple fluorescent multiplex PCR method

N. Drouot, A. Munnich, T. Frebourg, 2001, Journal of medical genetics.

Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients

N. Drouot, A. Boland, D. Lacombe, 2022, Human mutation.

[Autoimmune polyendocrine syndrome type 1].

J. Weill, J. Carel, J. Wemeau, 2010, Archives de pédiatrie.

Molecular evaluation of foetuses with holoprosencephaly shows high incidence of microdeletions in the HPE genes

I. Gicquel, T. Frebourg, L. Pasquier, 2006, Human Genetics.

X–linked spastic paraplegia and Pelizaeus–Merzbacher disease are allelic disorders at the proteolipid protein locus

A. Munnich, D. Bonneau, O. Boespflug-Tanguy, 1994, Nature Genetics.

[The challenge for dermatologists of early APECED diagnosis].

F. Aubin, P. Saugier-Veber, P. Humbert, 2014, Annales de dermatologie et de venereologie.

Detection of copy-number variations from NGS data using read depth information: a diagnostic performance evaluation

R. Redon, N. Drouot, J. Dartigues, 2020, European Journal of Human Genetics.

Role of cytoskeletal abnormalities in the neuropathology and pathophysiology of type I lissencephaly

A. Laquérriere, S. Marret, P. Marcorelles, 2010, Acta Neuropathologica.

Simple detection of genomic microdeletions and microduplications using QMPSF in patients with idiopathic mental retardation

N. Drouot, V. Drouin‐Garraud, T. Frebourg, 2006, European Journal of Human Genetics.

Structure of the human progesterone receptor gene.

E. Milgrom, P. Dessen, M. Misrahi, 1993, Biochimica et biophysica acta.

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.

Autistic Disorder in Patients with Williams-Beuren Syndrome: A Reconsideration of the Williams-Beuren Syndrome Phenotype

A. Toutain, D. Cohen, A. Verloes, 2012, PloS one.

MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects

W. Chung, A. Munnich, B. Menten, 2021, Human Genetics.

SETD2 and DNMT3A screen in the Sotos-like syndrome French cohort

A. Afenjar, E. Pasmant, M. Vidaud, 2016, Journal of Medical Genetics.

Clinical and molecular delineation of the 17q21.31 microdeletion syndrome

L. Vissers, B. D. de Vries, E. Eichler, 2008, Journal of Medical Genetics.

MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations

S. Auvin, T. Frebourg, N. Le Meur, 2009, Journal of Medical Genetics.

Heterogeneity of NSD1 alterations in 116 patients with Sotos syndrome

A. Afenjar, V. Drouin‐Garraud, T. Frebourg, 2007, Human mutation.

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.

Detection of genomic imbalances by array based comparative genomic hybridisation in fetuses with multiple malformations

T. Frebourg, S. Jacquemont, C. Le Caignec, 2005, Journal of Medical Genetics.

Risk estimation of uniparental disomy of chromosome 14 or 15 in a fetus with a parent carrying a non‐homologous Robertsonian translocation. Should we still perform prenatal diagnosis?

R. Touraine, L. Cuisset, H. Hamdi-Rozé, 2019, Prenatal diagnosis.

The severe form of type I hyperprolinaemia results from homozygous inactivation of the PRODH gene

D. Campion, T. Frebourg, D. Bonneau, 2003, Journal of medical genetics.

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.

NGLY1 Deficiency: A Rare Newly Described Condition with a Typical Presentation

S. Coutant, F. Lecoquierre, S. Marret, 2021, Life.

Hypersociability associated with developmental delay, macrocephaly and facial dysmorphism points to CHD3 mutations.

V. Drouin‐Garraud, A. Boland, T. Frebourg, 2021, European journal of medical genetics.

Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND).

H. Galehdari, T. Frebourg, R. Maroofian, 2020, European journal of medical genetics.

A Simple, Universal, and Cost-Efficient Digital PCR Method for the Targeted Analysis of Copy Number Variations.

Jean-François Deleuze, Gaël Nicolas, Anne Boland, 2019, Clinical chemistry.

Presence of autism, hyperserotonemia, and severe expressive language impairment in Williams-Beuren syndrome

D. Cohen, A. Verloes, G. Anderson, 2013, Molecular Autism.

Detection of copy-number variations from NGS data using read depth information: a diagnostic performance evaluation

R. Redon, N. Drouot, J. Dartigues, 2020, European Journal of Human Genetics.

X-linked partial corpus callosum agenesis with mild intellectual disability: identification of a novel L1CAM pathogenic variant

R. Touraine, B. Gérard, A. Piton, 2021, neurogenetics.

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.

Thrombocytopenia-absent radius (TAR) syndrome: a clinical genetic series of 14 further cases. impact of the associated 1q21.1 deletion on the genetic counselling.

D. Bonneau, F. Escande, J. Andrieux, 2011, European journal of medical genetics.

Type 0 Spinal Muscular Atrophy: Further Delineation of Prenatal and Postnatal Features in 16 Patients.

R. Touraine, T. Frebourg, J. Roume, 2016, Journal of neuromuscular diseases.

A rare SMN2 variant in a previously unrecognized composite splicing regulatory element induces exon 7 inclusion and reduces the clinical severity of spinal muscular atrophy

R. Touraine, A. Toutain, T. Frebourg, 2010, Human mutation.

A rare SMN2 variant in a previously unrecognized composite splicing regulatory element induces exon 7 inclusion and reduces the clinical severity of spinal muscular atrophy

R. Touraine, A. Toutain, T. Frebourg, 2010, Human mutation.

Refined characterization of the expression and stability of the SMN gene products.

J. Melki, Jeremie Vitte, C. Brahe, 2007, The American journal of pathology.

Molecular analysis of SMA patients without homozygous SMN1 deletions using a new strategy for identification of SMN1 subtle mutations

P. Bénit, A. Munnich, O. Clermont, 2004, Human mutation.

Neuropathological review of 138 cases genetically tested for X-linked hydrocephalus: evidence for closely related clinical entities of unknown molecular bases

N. Drouot, C. Fallet-Bianco, P. Gressens, 2013, Acta Neuropathologica.

Pathomechanistic characterization of two exonic L1CAM variants located in trans in an obligate carrier of X-linked hydrocephalus

N. Drouot, T. Frebourg, V. Castellani, 2012, neurogenetics.

Molecular characterization of a 14q deletion in a boy with features of Holt–Oram syndrome

V. Drouin‐Garraud, T. Frebourg, N. Le Meur, 2005, American journal of medical genetics. Part A.

Duplication at chromosome 2q31.1-q31.2 in a family presenting syndactyly and nystagmus

J. Andrieux, S. Odent, X. Zanlonghi, 2011, European Journal of Human Genetics.

Cardiac conduction alterations in a French family with amyloidosis of the finnish type with the p.Asp187Tyr mutation in the GSN gene

N. Chastan, D. Hannequin, T. Frebourg, 2006, Muscle & nerve.

Lumping Juberg-Marsidi syndrome and X-linked alpha-thalassemia/mental retardation syndrome?

A. Munnich, A. Toutain, S. Lyonnet, 1995, American journal of medical genetics.

Murine MPDZ‐linked hydrocephalus is caused by hyperpermeability of the choroid plexus

Richard J Smeyne, M. Thakur, H. Ishikawa, 2018, EMBO molecular medicine.

Murine MPDZ-Linked Hydrocephalus is Caused by Hyperpermeability of the Choroid Plexus

Richard J Smeyne, M. Thakur, S. Pickup, 2018, bioRxiv.

Development of a nonfluorescent multiplex semiquantitative polymerase chain reaction to confirm rearrangements detected by array-comparative genomic hybridization.

N. Drouot, T. Frebourg, P. Chambon, 2011, Genetic testing and molecular biomarkers.

Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications.

S. Scherer, C. Cytrynbaum, R. Weksberg, 2022, Brain : a journal of neurology.

Factor V Cambridge mutation and activated protein C resistance assays

J. Borg, P. Saugier-Veber, M. Chrétien, 2006, Thrombosis and Haemostasis.

Mapping the differences in care for 5,000 Spinal Muscular Atrophy patients, a survey of 24 national registries in North America, Australasia and Europe

Thomas Sejersen, Rachel Thompson, Clemens Bloetzer, 2013, Journal of Neurology.

A de novo variant in ADGRL2 suggests a novel mechanism underlying the previously undescribed association of extreme microcephaly with severely reduced sulcation and rhombencephalosynapsis

A. Laquérriere, T. Frebourg, S. Coutant, 2018, Acta neuropathologica communications.

X‐linked lissencephaly with absent corpus callosum and ambiguous genitalia (XLAG): Clinical, magnetic resonance imaging, and neuropathological findings

Stéphane Marret, Dominique Bonneau, Diana Rodriguez, 2002, Annals of neurology.

CCM molecular screening in a diagnosis context: novel unclassified variants leading to abnormal splicing and importance of large deletions

E. Tournier-Lasserve, P. Saugier-Veber, F. Riant, 2013, neurogenetics.

Clinical imaging and neuropathological correlations in an unusual case of cerebrotendinous xanthomatosis.

D. Hannequin, D. Wallon, A. Laquérriere, 2010, Clinical neuropathology.

A non-DM1, non-DM2 multisystem myotonic disorder with frontotemporal dementia: phenotype and suggestive mapping of the DM3 locus to chromosome 15q21-24.

A. Delacourte, C. Duyckaerts, D. Campion, 2004, Brain : a journal of neurology.

A non-DM 1 , non-DM 2 multisystem myotonic disorder with frontotemporal dementia : phenotype and suggestive mapping of the DM 3 locus to chromosome 15 q 21-24

A. Delacourte, C. Duyckaerts, D. Campion, 2004 .

Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects.

I. Gut, M. Bayés, J. Melki, 2014, Human molecular genetics.

Prenatal diagnosis of hydrocephalus‐stenosis of the aqueduct of Sylvius by ultrasound in the first trimester of pregnancy. Report of two cases

Y. Ville, J. Bernard, J. Roume, 2001, Prenatal diagnosis.

Identification of novel L1CAM mutations using fluorescence‐assisted mismatch analysis

A. Munnich, N. Philip, N. Le Meur, 1998, Human mutation.

Pathomechanistic characterization of two exonic L1CAM variants located in trans in an obligate carrier of X-linked hydrocephalus

N. Drouot, T. Frebourg, V. Castellani, 2012, neurogenetics.

Polyvalvular heart disease with joint hypermobility, characteristic facies, and particular skin abnormalities: new cases of "polyvalvular heart disease syndrome" or new association?

H. Cavé, A. Verloes, M. Tauber, 2010, European journal of medical genetics.

Evidence for tangential migration disturbances in human lissencephaly resulting from a defect in LIS1, DCX and ARX genes

A. Laquérriere, S. Marret, P. Marcorelles, 2010, Acta Neuropathologica.

High diagnostic potential of short and long read genome sequencing with transcriptome analysis in exome-negative developmental disorders

N. Drouot, A. Boland, O. Quenez, 2023, Human Genetics.

Searching for secondary findings: considering actionability and preserving the right not to know

A. Munnich, S. Julia, P. Calvas, 2019, European Journal of Human Genetics.

The Juberg-Marsidi syndrome maps to the proximal long arm of the X chromosome (Xq12-q21).

A. Munnich, S. Lyonnet, A. Moncla, 1993, American journal of human genetics.

[Genetics of mental retardation].

A. Goldenberg, P. Saugier-Veber, A Goldenberg, 2003, Pathologie-biologie.

Congenital hydrocephalus: new Mendelian mutations and evidence for oligogenic inheritance

T. Lenaerts, R. Touraine, M. Abramowicz, 2023, Human Genomics.

Hydrocephalus due to multiple ependymal malformations is caused by mutations in the MPDZ gene

A. Laquérriere, T. Frebourg, F. Lecoquierre, 2017, Acta neuropathologica communications.

Foetal presentation of cartilage hair hypoplasia with extensive granulomatous inflammation.

A. Laquérriere, T. Frebourg, M. Brasseur-Daudruy, 2013, European journal of medical genetics.

Neurodevelopmental outcome in prenatally diagnosed isolated agenesis of the corpus callosum.

S. Marret, M. Brasseur-Daudruy, P. Saugier-Veber, 2018, Early human development.

Significant contribution of intragenic deletions to ARID1B mutation spectrum

A. Afenjar, N. Philip, V. Cormier-Daire, 2019, Genetics in Medicine.

Confirmation and further delineation of the SMG9‐deficiency syndrome, a rare and severe developmental disorder

A. Boland, T. Frebourg, O. Quenez, 2019, American journal of medical genetics. Part A.

Refined genetic mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13.3 and evidence of linkage disequilibrium in European families

A. Munnich, D. Bonneau, L. Viollet, 2004, European Journal of Human Genetics.

Inference of Diagnostic Markers and Therapeutic Targets From CSF Proteomics for the Treatment of Hydrocephalus

P. Saugier-Veber, V. Gilard, Arie Horowitz, 2020, bioRxiv.

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.