massimiliano rossi

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Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies

Elsa Leitão , Amandine Santini , Benjamin Cogne , Miriam Essid , Maria Athanasiadou et al.

Nature Genetics, 2026, ⟨10.1038/s41588-026-02547-5⟩

Article dans une revue hal-05379108v1

DNA methylation signature and clinical delineation of PACS1-related disorder in 24 unreported individuals

Quentin Sabbagh , Camille Cenni , Sadegheh Haghshenas , Jean-Luc Alessandri , Mads Bak et al.

European Journal of Human Genetics, 2026, ⟨10.1038/s41431-026-02083-0⟩

Article dans une revue hal-05579472v1
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PFMG2025–integrating genomic medicine into the national healthcare system in France

Caroline Abadie , Aldja Abderrahmane , Ouarda Abdous , Carine Abel , Oanez Ackermann et al.

The Lancet Regional Health - Europe, 2025, 50, pp.101183. ⟨10.1016/j.lanepe.2024.101183⟩

Article dans une revue hal-04988732v1
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Impact of SMAD6 Variants on Neurodevelopment in Craniosynostosis

Isabelle Verlut , Sofia Guernouche , Massimiliano Rossi , Alexandru Szathmari , Pierre A Beuriat et al.

Journal of Craniofacial Surgery, 2025, Online ahead of print. ⟨10.1097/scs.0000000000011461⟩

Article dans une revue hal-05290669v1
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Thermally-driven microfluidic swirler for flow manipulation

Filippo Azzini , Gian Luca Morini , Beatrice Pulvirenti , Massimiliano Rossi , Marcos Rojas-Cárdenas

International Journal of Thermal Sciences, 2025, 215, pp.109944. ⟨10.1016/j.ijthermalsci.2025.109944⟩

Article dans une revue hal-05087864v1
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Real-World Safety and Effectiveness of Vosoritide in Children with Achondroplasia: French Early Access Program

Valérie Cormier-Daire , Thomas Edouard , Bertrand Isidor , Swati Mukherjee , Jeanne M Pimenta et al.

Hormone Research in Paediatrics, 2025, pp.1 - 17. ⟨10.1159/000543743⟩

Article dans une revue hal-05290775v1

Oral Infigratinib Therapy in Children with Achondroplasia

Ravi Savarirayan , Josep Maria de Bergua , Paul Arundel , Jean‐pierre Salles , Vrinda Saraff et al.

New England Journal of Medicine, 2025, 392 (9), pp.865-874. ⟨10.1056/NEJMoa2411790⟩

Article dans une revue hal-05045853v1

Resolving structural variations missed by short-read sequencing uncovers their pathogenicity

Caroline Schluth-Bolard , Laïla El Khattabi , Pierre Antoine Rollat Farnier , Nicolas Chatron , Marion Beaumont et al.

Journal of Medical Genetics, 2025, ⟨10.1136/jmg-2025-110838⟩

Article dans une revue hal-05246796v1

Novel Digital Anomalies, Hippocampal Atrophy, and Mutations Expand the Genotypic and Phenotypic Spectra of CNKSR2 in the Houge Type of X‐Linked Syndromic Intellectual Development Disorder ( MRXSHG )

Mohammad‐reza Ghasemi , Sahand Tehrani Fateh , Afif Ben-Mahmoud , Vijay Gupta , Lara Stühn et al.

American Journal of Medical Genetics Part A, 2024, ⟨10.1002/ajmg.a.63963⟩

Article dans une revue hal-04980410v1
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Expectations, needs and mid-term outcomes in people accessing to secondary findings from ES: 1st French mixed study (FIND Study)

Eléonore Viora-Dupont , Françoise Robert , Aline Chassagne , Aurore Pélissier , Stéphanie Staraci et al.

European Journal of Human Genetics, 2024, 32, pp.1166 - 1183. ⟨10.1038/s41431-024-01616-9⟩

Article dans une revue hal-05290652v1
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Novel Digital Anomalies, Hippocampal Atrophy, and Mutations Expand the Genotypic and Phenotypic Spectra of <i>CNKSR2</i> in the Houge Type of X‐Linked Syndromic Intellectual Development Disorder (MRXSHG)

Mohammad‐reza Ghasemi , Sahand Tehrani Fateh , Afif Ben‐mahmoud , Vijay Gupta , Lara G Stühn et al.

American Journal of Medical Genetics Part A, 2024, 197, ⟨10.1002/ajmg.a.63963⟩

Article dans une revue hal-05290769v1
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Long-term follow-up of severe autosomal recessive SP7-related bone disorder

Lucas Gauthier , Elisabeth Fontanges , Roland Chapurlat , Corinne Collet , Massimiliano Rossi

BONE, 2024, 179, pp.116953. ⟨10.1016/j.bone.2023.116953⟩

Article dans une revue inserm-05028756v1
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Elastin turnover in Williams–Beuren and 7q11.23 microduplication syndromes

Alexandre Guilhem , Severine Ruet , Patrick Edery , Cecile Acquaviva , Massimiliano Rossi

European Heart Journal Open, 2024, 4 (3), pp.oeae045. ⟨10.1093/ehjopen/oeae045⟩

Article dans une revue (data paper) hal-04892293v1
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Ciliopathy due to POC1A deficiency: clinical and metabolic features, and cellular modeling

Kevin Perge , Emilie Capel , Carine Villanueva , Jérémie Gautheron , Safiatou Diallo et al.

European Journal of Endocrinology, 2024, 190 (2), pp.151-164. ⟨10.1093/ejendo/lvae009⟩

Article dans une revue hal-04455965v1
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Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders

Thomas Husson , François Lecoquierre , Gaël Nicolas , Anne-Claire Richard , Alexandra Afenjar et al.

European Journal of Human Genetics, 2024, 32, pp.190-199. ⟨10.1038/s41431-023-01474-x⟩

Article dans une revue hal-05290645v2
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Elastin turnover in Williams–Beuren and 7q11.23 microduplication syndromes

Alexandre Guilhem , Severine Ruet , Patrick Edery , Cecile Acquaviva , Massimiliano Rossi

European Heart Journal Open, 2024, 4, ⟨10.1093/ehjopen/oeae045⟩

Article dans une revue hal-05290644v1
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Clinical and genetic characterization of a progressive <i>RBL2</i>-associated neurodevelopmental disorder

Gabriel N Aughey , Elisa Cali , Reza Maroofian , Maha S Zaki , Alistair T Pagnamenta et al.

Brain - A Journal of Neurology , 2024, 148, pp.1194 - 1211. ⟨10.1093/brain/awae363⟩

Article dans une revue hal-05290610v1
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Lessons from two series by physicians and caregivers' self‐reported data in DDX3X ‐related disorders

Valentin Ruault , Pauline Burger , Johanna Gradels-Hauguel , Nathalie Ruiz , Rami Abou Jamra et al.

Molecular Genetics & Genomic Medicine, 2024, 12 (1), pp.e2363. ⟨10.1002/mgg3.2363⟩

Article dans une revue hal-04567616v1

Early-Onset Osteoporosis: Molecular Analysis in Large Cohort and Focus on the PLS3 Gene

Maxence Mancini , Roland Chapurlat , Bertrand Isidor , Marine Desjonqueres , Guillaume Couture et al.

Calcified Tissue International, 2024, 115 (5), pp.591-598. ⟨10.1007/s00223-024-01288-z⟩

Article dans une revue hal-04823379v1

Weill-Marchesani syndrome: natural history and genotype-phenotype correlations from 18 news cases and review of literature

Pauline Marzin , Sophie Rondeau , Jean-Luc Alessandri , Klaus Dieterich , Carine Le Goff et al.

Journal of Medical Genetics, 2024, 61 (2), pp.109-116. ⟨10.1136/jmg-2023-109288⟩

Article dans une revue hal-04544905v1

Clinical interest of molecular study in cases of isolated midline craniosynostosis

Federico Di Rocco , Massimiliano Rossi , Isabelle Verlut , Alexandru Szathmari , Pierre Aurélien Beuriat et al.

European Journal of Human Genetics, 2023, 31 (6), pp.621 - 628. ⟨10.1038/s41431-023-01295-y⟩

Article dans une revue hal-05290624v1

Clinical interest of molecular study in cases of isolated midline craniosynostosis

Federico Di Rocco , Massimiliano Rossi , Isabelle Verlut , Alexandru Szathmari , Pierre-Aurélien Beuriat et al.

European Journal of Human Genetics, 2023, European Journal of Human Genetics, 31, p. 621-628. ⟨10.1038/s41431-023-01295-y⟩

Article dans une revue hal-04636841v1

Anxiety, concerns and COVID-19: Cross-country perspectives from families and individuals with neurodevelopmental conditions

Vassilis Sideropoulos , Jo van Herwegen , Ben Meuleman , Michael Alessandri , Faisal M Alnemary et al.

Journal of Global Health, 2023, 13, pp.04081. ⟨10.7189/jogh.13.04081⟩

Article dans une revue hal-05290581v1
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Low risk of embryonic and other cancers in <i>PIK3CA</i>‐related overgrowth spectrum: Impact on screening recommendations

Laurence Faivre , Jean‐charles Crépin , Manon Réda , Sophie Nambot , Virginie Carmignac et al.

Clinical Genetics, 2023, 104, pp.554 - 563. ⟨10.1111/cge.14410⟩

Article dans une revue hal-05290738v1
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Molecular consequences of PQBP1 deficiency, involved in the X-linked Renpenning syndrome

Jérémie Courraud , Camille Engel , Angélique Quartier , Nathalie Drouot , Ursula Houessou et al.

Molecular Psychiatry, 2023, 29 (2), pp.287 - 296. ⟨10.1038/s41380-023-02323-5⟩

Article dans une revue hal-05290745v1
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A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

Anne-Sophie Denommé-Pichon , Leslie Matalonga , Elke de Boer , Adam Jackson , Elisa Benetti et al.

Genetics in Medicine, 2023, 25 (4), pp.100018. ⟨10.1016/j.gim.2023.100018⟩

Article dans une revue hal-05290572v1
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Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication–deletion: Genotype–phenotype correlation for anomalies of the corpus callosum

Roseline Vibert , Cyril Mignot , Boris Keren , Sandra Chantot-Bastaraud , Marie-France Portnoï et al.

Clinical Genetics, 2022, 101 (3), pp.307-316. ⟨10.1111/cge.14096⟩

Article dans une revue inserm-03838049v1
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Infigratinib in children with achondroplasia: the PROPEL and PROPEL 2 studies

Ravi Savarirayan , Josep Maria de Bergua , Paul Arundel , Helen Mcdevitt , Valerie Cormier-Daire et al.

Therapeutic advances in musculoskeletal disease, 2022, 14, pp.1759720X2210848. ⟨10.1177/1759720X221084848⟩

Article dans une revue hal-04233776v1
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New insights in craniovertebral junction MR changes leading to stenosis in children with achondroplasia

Sara Cabet , Alexandru Szathmari , Carmine Mottolese , Patricia Franco , Laurent Guibaud et al.

Child's Nervous System, 2022, 38, pp.1137 - 1145. ⟨10.1007/s00381-022-05514-7⟩

Article dans une revue hal-05290750v1

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

Daphné Lehalle , Ange‐line Bruel , Antonio Vitobello , Anne‐sophie Denommé‐pichon , Yannis Duffourd et al.

American Journal of Medical Genetics Part A, 2022, 188 (7), pp.2036 - 2047. ⟨10.1002/ajmg.a.62739⟩

Article dans une revue hal-05290783v1
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Infigratinib in children with achondroplasia: the PROPEL and PROPEL 2 studies

Ravi Savarirayan , Josep Maria de Bergua , Paul Arundel , Helen Mcdevitt , Valerie Cormier-Daire et al.

Therapeutic advances in musculoskeletal disease, 2022, 14, ⟨10.1177/1759720x221084848⟩

Article dans une revue hal-05290673v1
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CDK13-related disorder: Report of a series of 18 previously unpublished individuals and description of an epigenetic signature

Flavien Rouxel , Raissa Relator , Jennifer Kerkhof , Haley Mcconkey , Michael Levy et al.

Genetics in Medicine, 2022, 24 (5), pp.1096-1107. ⟨10.1016/j.gim.2021.12.016⟩

Article dans une revue hal-04587703v1

Clinical delineation of SETBP1 haploinsufficiency disorder

Nadieh A Jansen , Ruth O Braden , Siddharth Srivastava , Erin F Otness , Gaetan Lesca et al.

European Journal of Human Genetics, 2021, 29 (8), pp.1198 - 1205. ⟨10.1038/s41431-021-00888-9⟩

Article dans une revue hal-05290620v1

<i>GGCX</i>‐related congenital combined vitamin K‐dependent clotting factors deficiency‐1: Description of a fetus with chondrodysplasia punctata

Alix Mathonnet , Séverine Cunat , Fabienne Allias , Sandrine Caillot , Cyrielle Thonnon et al.

American Journal of Medical Genetics Part A, 2021, 188 (1), pp.314 - 318. ⟨10.1002/ajmg.a.62503⟩

Article dans une revue hal-05290658v1

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

Aurore Garde , Laurent Guibaud , Alice Goldenberg , Florence Petit , Rodolphe Dard et al.

Clinical Genetics, 2021, 99 (5), pp.650-661. ⟨10.1111/cge.13918⟩

Article dans une revue hal-03404308v1
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Effects of eight neuropsychiatric copy number variants on human brain structure

Claudia Modenato , Kuldeep Kumar , Clara Moreau , Sandra Martin-Brevet , Guillaume Huguet et al.

Translational Psychiatry, 2021, 11 (1), pp.399. ⟨10.1038/s41398-021-01490-9⟩

Article dans une revue hal-03652913v1
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Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials

Aurore Garde , Laurent Guibaud , Alice Goldenberg , Florence Petit , Rodolphe Dard et al.

Clinical Genetics, 2021, 99, pp.650 - 661. ⟨10.1111/cge.13918⟩

Article dans une revue hal-05290616v1
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KCNT1 -related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum

Claudia Bonardi , Henrike Heyne , Martina Fiannacca , Mark Fitzgerald , Elena Gardella et al.

Brain - A Journal of Neurology , 2021, 144 (12), pp.3635-3650. ⟨10.1093/brain/awab219⟩

Article dans une revue inserm-04957356v1
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Association of Genetic Syndrome and Chest Tumor: Is it Just A Coincidence?

Hani Saiedi , Massimiliano Rossi , Corinne Collet , Pauline Monin , Francois Tronc et al.

Biomedical Journal of Scientific & Technical Research, 2021, 35, ⟨10.26717/bjstr.2021.35.005711⟩

Article dans une revue hal-05290598v1
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10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in France

Claude Messiaen , Caroline Racine , Ahlem Khatim , Louis Soussand , Sylvie Odent et al.

Orphanet Journal of Rare Diseases, 2021, 16 (1), ⟨10.1186/s13023-021-01957-4⟩

Article dans une revue hal-03403349v1
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Erotomania and phenotypic continuum in a family frameshift variant of AUTS2: a case report and review

Christophe Gauld , Alice Poisson , Julie Reversat , Elodie Peyroux , Françoise Houdayer-Robert et al.

BMC Psychiatry, 2021, 21, pp.360. ⟨10.1186/s12888-021-03342-8⟩

Article dans une revue inserm-03306601v1

Sensenbrenner syndrome: a further challenge in evaluating sagittal synostosis and a need for a multidisciplinary approach

Thomas Quinaux , Viola Custodi , Audrey Putoux , Justine Bacchetta , Massimiliano Rossi et al.

Child's Nervous System, 2021, 37 (5), pp.1695-1701. ⟨10.1007/s00381-021-05075-1⟩

Article dans une revue hal-05026173v1
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Effects of eight neuropsychiatric copy number variants on human brain structure

Claudia Modenato , Kuldeep Kumar , Clara Moreau , Sandra Martin-Brevet , Guillaume Huguet et al.

Translational Psychiatry, 2021, 11 (1), pp.399. ⟨10.1038/s41398-021-01490-9⟩

Article dans une revue hal-05290641v1
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Growth charts in Cockayne syndrome type 1 and type 2

Sarah Baer , Nicolas Tuzin , Peter B Kang , Shehla Mohammed , Masaya Kubota et al.

European Journal of Medical Genetics, 2021, 64 (1), pp.104105. ⟨10.1016/j.ejmg.2020.104105⟩

Article dans une revue hal-05290660v1

Sensenbrenner syndrome: a further challenge in evaluating sagittal synostosis and a need for a multidisciplinary approach

Thomas Quinaux , Viola Custodi , Audrey Putoux , Justine Bacchetta , Massimiliano Rossi et al.

Child's Nervous System, 2021, 37 (5), pp.1695 - 1701. ⟨10.1007/s00381-021-05075-1⟩

Article dans une revue hal-05290777v1
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De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature

Sophie Nambot , Laurence Faivre , Ghayda Mirzaa , Julien Thevenon , Ange-Line Bruel et al.

European Journal of Human Genetics, 2020, 28 (6), pp.770-782. ⟨10.1038/s41431-020-0571-6⟩

Article dans une revue inserm-03846561v1
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Normal intellectual skills in patients with Rhombencephalosynapsis

Marie-France Bonnetain , Christelle Rougeot-Jung , Catherine Sarret , Laurence Lion-François , Olivier Revol et al.

European Journal of Paediatric Neurology, 2020, 29, pp.92-100. ⟨10.1016/j.ejpn.2020.09.007⟩

Article dans une revue hal-03124493v1
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Telemedicine strategy of the European Reference Network ITHACA for the diagnosis and management of patients with rare developmental disorders

Michael Smith , Elizabeth Alexander , Ruta Marcinkute , Dorica Dan , Myfanwy Rawson et al.

Orphanet Journal of Rare Diseases, 2020, 15, ⟨10.1186/s13023-020-1349-1⟩

Article dans une revue hal-05290780v1
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Mandibular-pelvic-patellar syndrome (mpp) is a novel pitx1-related disorder due to alteration of pitx1 transactivation ability

Godelieve Morel , Celine Duhamel , Simon Boussion , Frederic Frenois , Gaetan Lesca et al.

Human Mutation, 2020, Human mutation, 41 (9), pp.1499-1506. ⟨10.1002/humu.24070⟩

Article dans une revue hal-03405413v1
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Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals

Henri Margot , Guilaine Boursier , Claire Duflos , Elodie Sanchez , Jeanne Amiel et al.

Genetics in Medicine, 2020, 22 (1), pp.181-188. ⟨10.1038/s41436-019-0623-x⟩

Article dans une revue hal-02268419v1

Treatment Responsiveness in KCNT1-Related Epilepsy

Mark Fitzgerald , Martina Fiannacca , Douglas Smith , Tracy Gertler , Boudewijn Gunning et al.

Neurotherapeutics, 2019, 16 (3), pp.848-857. ⟨10.1007/s13311-019-00739-y⟩

Article dans une revue hal-04560731v1
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Minoxidil versus placebo in the treatment of arterial wall hypertrophy in children with Williams Beuren Syndrome: a randomized controlled trial

Behrouz Kassai , Philippe Bouyé , Brigitte Gilbert-Dussardier , François Godart , Jean-Benoit Thambo et al.

BMC Pediatrics, 2019, 19 (1), pp.170. ⟨10.1186/s12887-019-1544-1⟩

Article dans une revue hal-04382896v1
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Molecular investigation, using chromosomal microarray and whole exome sequencing, of six patients affected by Williams Beuren syndrome and Autism Spectrum Disorder

Julie Masson , Caroline Demily , Nicolas Chatron , Audrey Labalme , Pierre-Antoine Rollat-Farnier et al.

Orphanet Journal of Rare Diseases, 2019, 14 (1), pp.121. ⟨10.1186/s13023-019-1094-5⟩

Article dans une revue (data paper) hal-04892404v1

Postnatal clinical phenotype of five patients with Pallister–Killian Syndrome (tetrasomy 12p): Interest of array CGH for diagnosis and review of the literature

Amerh Salem Alqahtani , Audrey Putoux , Marie Noelle Bonnet Dupeyron , Maryline Carneiro , Laurence Lion‐francois et al.

Molecular Genetics and Genomic Medicine, 2019, 7 (10), pp.3367 - 3374. ⟨10.1002/mgg3.939⟩

Article dans une revue (data paper) hal-05123008v1

Pycnodysostosis: Natural history and management guidelines from 27 French cases and a literature review

Varoona Bizaoui , Caroline Michot , Geneviève Baujat , Cyril Amouroux , Sabine Baron et al.

Clinical Genetics, 2019, 96 (4), pp.309-316. ⟨10.1111/cge.13591⟩

Article dans une revue hal-02626235v1

Developmental trajectories of neuroanatomical alterations associated with the 16p11.2 Copy Number Variations

Alonso Cárdenas-De-La-Parra , Sandra Martin-Brevet , Clara Moreau , Borja Rodriguez-Herreros , Vladimir Fonov et al.

NeuroImage, 2019, 203, pp.116155. ⟨10.1016/j.neuroimage.2019.116155⟩

Article dans une revue hal-02441775v1
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Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders

Caroline Schluth-Bolard , Flavie Diguet , Nicolas Chatron , Pierre-Antoine Rollat-Farnier , Claire Bardel et al.

Journal of Medical Genetics, 2019, 56 (8), pp.526-535. ⟨10.1136/jmedgenet-2018-105778⟩

Article dans une revue hal-03863519v1
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Craniosynostosis and metabolic bone disorder. A review

Federico Di Rocco , Anya Rothenbuhler , Valérie Cormier-Daire , Justine Bacchetta , Catherine Adamsbaum et al.

Neurochirurgie, 2019, 65 (5), pp.258-263. ⟨10.1016/j.neuchi.2019.09.008⟩

Article dans une revue hal-03488489v1
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Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study

Sandra Martin , Borja Rodríguez-Herreros , Jared Nielsen , Clara Moreau , Claudia Modenato et al.

Biological Psychiatry, 2018, 84 (4), pp.253 - 264. ⟨10.1016/j.biopsych.2018.02.1176⟩

Article dans une revue hal-01870357v1

16p13.11 microduplication in 45 new patients: refined clinical significance and genotype–phenotype correlations

Laïla Allach El Khattabi , Solveig Heide , Jean-Hubert Caberg , Joris Andrieux , Martine Doco Fenzy et al.

Journal of Medical Genetics, 2018, ⟨10.1136/jmedgenet-2018-105389⟩

Article dans une revue hal-01926555v1
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Characterization of two familial cases presenting with a syndromic specific learning disorder and carrying (17q;21q) unbalanced translocations

Julie Coton , Audrey Labalme , Marianne Till , Gerald Bussy , Sonia Krifi Papoz et al.

Clinical Case Reports, 2018, 6 (5), pp.827-834. ⟨10.1002/ccr3.1450⟩

Article dans une revue hal-04480033v1
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Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features

Marguerite Miguet , Laurence Faivre , Jeanne Amiel , Mathilde Nizon , Renaud Touraine et al.

Journal of Medical Genetics, 2018, 55 (6), pp.jmedgenet-2017-104956. ⟨10.1136/jmedgenet-2017-104956⟩

Article dans une revue hal-02064139v1

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

Daphne Lehalle , Umut Altunoglu , Ange‐line Bruel , Mirna Assoum , Yannis Duffourd et al.

EMBO Molecular Medicine, 2018, 11 (1), ⟨10.15252/emmm.201809540⟩

Article dans une revue hal-02904510v1
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Autosomal recessive primary microcephaly due to ASPM mutations: An update

Pascaline Létard , Séverine Drunat , Yoann Vial , Sarah Duerinckx , Anais Ernault et al.

Human Mutation, 2018, 39 (3), pp.319-332. ⟨10.1002/humu.23381⟩

Article dans une revue hal-02393637v1

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

Daphne Lehalle , Umut Altunoglu , Ange-Line Bruel , Mirna Assoum , Yannis Duffourd et al.

American Journal of Medical Genetics Part A, 2018, 176 (12), pp.2740-2750. ⟨10.1002/ajmg.a.40662⟩

Article dans une revue hal-02005698v1
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Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome

Marine Legendre , Véronique Abadie , Tania Attié-Bitach , Nicole Philip , Tiffany Busa et al.

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 2017, 175 (4), pp.417 - 430. ⟨10.1002/ajmg.c.31591⟩

Article dans une revue hal-01691932v1

Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing.

Paul Kuentz , Judith Saint-Onge , Yannis Duffourd , Jean-Benoît Courcet , Virginie Carmignac et al.

Genetics in Medicine, 2017, 19 (9), pp.989-997. ⟨10.1038/gim.2016.220⟩

Article dans une revue hal-01560452v1

Clinical and molecular cytogenetic characterization of four unrelated patients carrying 2p14 microdeletions

Marie-Laure Mathieu , Caroline Demily , Sandra Chantot-Bastaraud , Alexandra Afenjar , Cyril Mignot et al.

American Journal of Medical Genetics Part A, 2017, 173 (8), pp.2268-2274. ⟨10.1002/ajmg.a.38307⟩

Article dans une revue (data paper) inserm-04094444v1

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

Angélique Quartier , Hélène Poquet , Brigitte Gilbert-Dussardier , Massimiliano Rossi , Anne-Sophie Casteleyn et al.

European Journal of Human Genetics, 2017, 25 (4), pp.423 - 431. ⟨10.1038/ejhg.2016.204⟩

Article dans une revue hal-04542452v1
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Autism spectrum disorder associated with 49,XYYYY: case report and review of the literature

Caroline Demily , Alice Poisson , Elodie Peyroux , Valérie Gatellier , Alain Nicolas et al.

BMC Medical Genetics, 2017, 18 (1), pp.9. ⟨10.1186/s12881-017-0371-1⟩

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American Journal of Medical Genetics Part A, 2016, 170 (11), pp.2847-2859. ⟨10.1002/ajmg.a.37878⟩

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European Child and Adolescent Psychiatry, 2016, 25 (3), pp.297 - 310. ⟨10.1007/s00787-015-0741-1⟩

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Orphanet Journal of Rare Diseases, 2016, 11 (1), pp.26. ⟨10.1186/s13023-016-0408-0⟩

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Genome Research, 2016, 26 (4), pp.474-485. ⟨10.1101/gr.196048.115⟩

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American Journal of Medical Genetics Part A, 2015, 167 (5), pp.1008 - 1017. ⟨10.1002/ajmg.a.36856⟩

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L'Encéphale, 2015, 41 (3), pp.266-273. ⟨10.1016/j.encep.2014.10.005⟩

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European Journal of Human Genetics, 2015, 23 (1), pp.92-102. ⟨10.1038/ejhg.2014.62⟩

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Orphanet Journal of Rare Diseases, 2014, 9 (1), pp.2. ⟨10.1186/1750-1172-9-2⟩

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European Journal of Human Genetics, 2014, 23, pp.292 - 301. ⟨10.1038/ejhg.2014.95⟩

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American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 2013, 162B (4), pp.388-403. ⟨10.1002/ajmg.b.32148⟩

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Nature, 2011, 478 (7367), pp.97-102. ⟨10.1038/nature10406⟩

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Clinical Dysmorphology, 2003, 12 (4), pp.269-274. ⟨10.1097/00019605-200310000-00012⟩

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Maladies rares. L'apport de la recherche dans les sciences humaines, Erès, 2023, Erès essais - Société, 978-2-7492-7770-7

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Maladies rares : l'apport des recherches en sciences humaines et sociales, Erès éditions, 2023, 9782749277707

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61st Annual Meeting of the European Society for Paediatric Endocrinology (ESPE), Sep 2023, The Hague, Netherlands. pp.90-90

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60th Annual Meeting of the European Society for Paediatric Endocrinology (ESPE), Sep 2022, Rome, Italy. pp.308-309

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2018 WORLD BANK CONFERENCE ON LAND AND POVERTY: land governance in interconnected world, Mar 2018, WASHINGTON, DC, United States

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