massimiliano rossi

Publications

Article dans une revue (83)

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 Athanasiadouet 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 Baket al. European Journal of Human Genetics, 2026, ⟨10.1038/s41431-026-02083-0⟩ Article dans une revue hal-05579472v1
PFMG2025–integrating genomic medicine into the national healthcare system in France Caroline Abadie,Aldja Abderrahmane,Ouarda Abdous,Carine Abel,Oanez Ackermannet al. The Lancet Regional Health - Europe, 2025, 50, pp.101183. ⟨10.1016/j.lanepe.2024.101183⟩ Article dans une revue hal-04988732v1
Impact of SMAD6 Variants on Neurodevelopment in Craniosynostosis Isabelle Verlut,Sofia Guernouche,Massimiliano Rossi,Alexandru Szathmari,Pierre A Beuriatet al. Journal of Craniofacial Surgery, 2025, Online ahead of print. ⟨10.1097/scs.0000000000011461⟩ Article dans une revue hal-05290669v1
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
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 Pimentaet 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 Saraffet 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 Beaumontet 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 Stühnet al. American Journal of Medical Genetics Part A, 2024, ⟨10.1002/ajmg.a.63963⟩ Article dans une revue hal-04980410v1
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 Staraciet al. European Journal of Human Genetics, 2024, 32, pp.1166 - 1183. ⟨10.1038/s41431-024-01616-9⟩ Article dans une revue hal-05290652v1
Novel Digital Anomalies, Hippocampal Atrophy, and Mutations Expand the Genotypic and Phenotypic Spectra of &lt;i&gt;CNKSR2&lt;/i&gt; 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 Stühnet al. American Journal of Medical Genetics Part A, 2024, 197, ⟨10.1002/ajmg.a.63963⟩ Article dans une revue hal-05290769v1
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
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
Ciliopathy due to POC1A deficiency: clinical and metabolic features, and cellular modeling Kevin Perge,Emilie Capel,Carine Villanueva,Jérémie Gautheron,Safiatou Dialloet al. European Journal of Endocrinology, 2024, 190 (2), pp.151-164. ⟨10.1093/ejendo/lvae009⟩ Article dans une revue hal-04455965v1
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 Afenjaret al. European Journal of Human Genetics, 2024, 32, pp.190-199. ⟨10.1038/s41431-023-01474-x⟩ Article dans une revue hal-05290645v2
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
Clinical and genetic characterization of a progressive &lt;i&gt;RBL2&lt;/i&gt;-associated neurodevelopmental disorder Gabriel N Aughey,Elisa Cali,Reza Maroofian,Maha S Zaki,Alistair T Pagnamentaet al. Brain - A Journal of Neurology , 2024, 148, pp.1194 - 1211. ⟨10.1093/brain/awae363⟩ Article dans une revue hal-05290610v1
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 Jamraet 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 Coutureet 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 Goffet 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 Beuriatet 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 Beuriatet 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 Alnemaryet al. Journal of Global Health, 2023, 13, pp.04081. ⟨10.7189/jogh.13.04081⟩ Article dans une revue hal-05290581v1
Low risk of embryonic and other cancers in &lt;i&gt;PIK3CA&lt;/i&gt;‐related overgrowth spectrum: Impact on screening recommendations Laurence Faivre,Jean‐charles Crépin,Manon Réda,Sophie Nambot,Virginie Carmignacet al. Clinical Genetics, 2023, 104, pp.554 - 563. ⟨10.1111/cge.14410⟩ Article dans une revue hal-05290738v1
Molecular consequences of PQBP1 deficiency, involved in the X-linked Renpenning syndrome Jérémie Courraud,Camille Engel,Angélique Quartier,Nathalie Drouot,Ursula Houessouet al. Molecular Psychiatry, 2023, 29 (2), pp.287 - 296. ⟨10.1038/s41380-023-02323-5⟩ Article dans une revue hal-05290745v1
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 Benettiet al. Genetics in Medicine, 2023, 25 (4), pp.100018. ⟨10.1016/j.gim.2023.100018⟩ Article dans une revue hal-05290572v1
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 Portnoïet al. Clinical Genetics, 2022, 101 (3), pp.307-316. ⟨10.1111/cge.14096⟩ Article dans une revue inserm-03838049v1
Infigratinib in children with achondroplasia: the PROPEL and PROPEL 2 studies Ravi Savarirayan,Josep Maria de Bergua,Paul Arundel,Helen Mcdevitt,Valerie Cormier-Daireet al. Therapeutic advances in musculoskeletal disease, 2022, 14, pp.1759720X2210848. ⟨10.1177/1759720X221084848⟩ Article dans une revue hal-04233776v1
New insights in craniovertebral junction MR changes leading to stenosis in children with achondroplasia Sara Cabet,Alexandru Szathmari,Carmine Mottolese,Patricia Franco,Laurent Guibaudet 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 Duffourdet 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
Infigratinib in children with achondroplasia: the PROPEL and PROPEL 2 studies Ravi Savarirayan,Josep Maria de Bergua,Paul Arundel,Helen Mcdevitt,Valerie Cormier-Daireet al. Therapeutic advances in musculoskeletal disease, 2022, 14, ⟨10.1177/1759720x221084848⟩ Article dans une revue hal-05290673v1
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 Levyet 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 Lescaet al. European Journal of Human Genetics, 2021, 29 (8), pp.1198 - 1205. ⟨10.1038/s41431-021-00888-9⟩ Article dans une revue hal-05290620v1
&lt;i&gt;GGCX&lt;/i&gt;‐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 Thonnonet 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 Dardet al. Clinical Genetics, 2021, 99 (5), pp.650-661. ⟨10.1111/cge.13918⟩ Article dans une revue hal-03404308v1
Effects of eight neuropsychiatric copy number variants on human brain structure Claudia Modenato,Kuldeep Kumar,Clara Moreau,Sandra Martin-Brevet,Guillaume Huguetet al. Translational Psychiatry, 2021, 11 (1), pp.399. ⟨10.1038/s41398-021-01490-9⟩ Article dans une revue hal-03652913v1
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 Dardet al. Clinical Genetics, 2021, 99, pp.650 - 661. ⟨10.1111/cge.13918⟩ Article dans une revue hal-05290616v1
KCNT1 -related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum Claudia Bonardi,Henrike Heyne,Martina Fiannacca,Mark Fitzgerald,Elena Gardellaet al. Brain - A Journal of Neurology , 2021, 144 (12), pp.3635-3650. ⟨10.1093/brain/awab219⟩ Article dans une revue inserm-04957356v1
Association of Genetic Syndrome and Chest Tumor: Is it Just A Coincidence? Hani Saiedi,Massimiliano Rossi,Corinne Collet,Pauline Monin,Francois Troncet al. Biomedical Journal of Scientific & Technical Research, 2021, 35, ⟨10.26717/bjstr.2021.35.005711⟩ Article dans une revue hal-05290598v1
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 Odentet al. Orphanet Journal of Rare Diseases, 2021, 16 (1), ⟨10.1186/s13023-021-01957-4⟩ Article dans une revue hal-03403349v1
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-Robertet 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 Rossiet al. Child's Nervous System, 2021, 37 (5), pp.1695-1701. ⟨10.1007/s00381-021-05075-1⟩ Article dans une revue hal-05026173v1
Effects of eight neuropsychiatric copy number variants on human brain structure Claudia Modenato,Kuldeep Kumar,Clara Moreau,Sandra Martin-Brevet,Guillaume Huguetet al. Translational Psychiatry, 2021, 11 (1), pp.399. ⟨10.1038/s41398-021-01490-9⟩ Article dans une revue hal-05290641v1
Growth charts in Cockayne syndrome type 1 and type 2 Sarah Baer,Nicolas Tuzin,Peter B Kang,Shehla Mohammed,Masaya Kubotaet 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 Rossiet al. Child's Nervous System, 2021, 37 (5), pp.1695 - 1701. ⟨10.1007/s00381-021-05075-1⟩ Article dans une revue hal-05290777v1
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 Bruelet al. European Journal of Human Genetics, 2020, 28 (6), pp.770-782. ⟨10.1038/s41431-020-0571-6⟩ Article dans une revue inserm-03846561v1
Normal intellectual skills in patients with Rhombencephalosynapsis Marie-France Bonnetain,Christelle Rougeot-Jung,Catherine Sarret,Laurence Lion-François,Olivier Revolet al. European Journal of Paediatric Neurology, 2020, 29, pp.92-100. ⟨10.1016/j.ejpn.2020.09.007⟩ Article dans une revue hal-03124493v1
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 Rawsonet al. Orphanet Journal of Rare Diseases, 2020, 15, ⟨10.1186/s13023-020-1349-1⟩ Article dans une revue hal-05290780v1
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 Lescaet al. Human Mutation, 2020, Human mutation, 41 (9), pp.1499-1506. ⟨10.1002/humu.24070⟩ Article dans une revue hal-03405413v1
Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals Henri Margot,Guilaine Boursier,Claire Duflos,Elodie Sanchez,Jeanne Amielet 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 Gunninget al. Neurotherapeutics, 2019, 16 (3), pp.848-857. ⟨10.1007/s13311-019-00739-y⟩ Article dans une revue hal-04560731v1
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 Thamboet al. BMC Pediatrics, 2019, 19 (1), pp.170. ⟨10.1186/s12887-019-1544-1⟩ Article dans une revue hal-04382896v1
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-Farnieret 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‐francoiset 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 Baronet 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 Fonovet al. NeuroImage, 2019, 203, pp.116155. ⟨10.1016/j.neuroimage.2019.116155⟩ Article dans une revue hal-02441775v1
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 Bardelet al. Journal of Medical Genetics, 2019, 56 (8), pp.526-535. ⟨10.1136/jmedgenet-2018-105778⟩ Article dans une revue hal-03863519v1
Craniosynostosis and metabolic bone disorder. A review Federico Di Rocco,Anya Rothenbuhler,Valérie Cormier-Daire,Justine Bacchetta,Catherine Adamsbaumet al. Neurochirurgie, 2019, 65 (5), pp.258-263. ⟨10.1016/j.neuchi.2019.09.008⟩ Article dans une revue hal-03488489v1
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 Modenatoet 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 Fenzyet al. Journal of Medical Genetics, 2018, ⟨10.1136/jmedgenet-2018-105389⟩ Article dans une revue hal-01926555v1
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 Papozet al. Clinical Case Reports, 2018, 6 (5), pp.827-834. ⟨10.1002/ccr3.1450⟩ Article dans une revue hal-04480033v1
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 Touraineet 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 Duffourdet al. EMBO Molecular Medicine, 2018, 11 (1), ⟨10.15252/emmm.201809540⟩ Article dans une revue hal-02904510v1
Autosomal recessive primary microcephaly due to ASPM mutations: An update Pascaline Létard,Séverine Drunat,Yoann Vial,Sarah Duerinckx,Anais Ernaultet 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 Duffourdet 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
Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome Marine Legendre,Véronique Abadie,Tania Attié-Bitach,Nicole Philip,Tiffany Busaet 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 Carmignacet 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 Mignotet 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 Casteleynet al. European Journal of Human Genetics, 2017, 25 (4), pp.423 - 431. ⟨10.1038/ejhg.2016.204⟩ Article dans une revue hal-04542452v1
Autism spectrum disorder associated with 49,XYYYY: case report and review of the literature Caroline Demily,Alice Poisson,Elodie Peyroux,Valérie Gatellier,Alain Nicolaset al. BMC Medical Genetics, 2017, 18 (1), pp.9. ⟨10.1186/s12881-017-0371-1⟩ Article dans une revue inserm-02305085v1
Clinical and Molecular Findings in 39 Patients with KBG Syndrome Caused by Deletion or Mutation of ANKRD11 Alice Goldenberg,Florence Riccardi,Aude Tessier,Rolph Pfundt,Tiffany Busaet al. American Journal of Medical Genetics Part A, 2016, 170 (11), pp.2847-2859. ⟨10.1002/ajmg.a.37878⟩ Article dans une revue istex hal-01469066v1
Facial emotion perception by intensity in children and adolescents with 22q11.2 deletion syndrome Arnaud Leleu,Guillaume Saucourt,Caroline Rigard,Gabrielle Chesnoy,Jean-Yves Baudouinet al. European Child and Adolescent Psychiatry, 2016, 25 (3), pp.297 - 310. ⟨10.1007/s00787-015-0741-1⟩ Article dans une revue hal-01396381v1
Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing Nadège Calmels,Géraldine Greff,Cathy Obringer,Nadine Kempf,Claire Gasnieret al. Orphanet Journal of Rare Diseases, 2016, 11 (1), pp.26. ⟨10.1186/s13023-016-0408-0⟩ Article dans une revue hal-01295286v1
Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network Nicolas Chassaing,Erica E. Davis,Kelly L. Mcknight,Adrienne R. Niederriter,Alexandre Causseet al. Genome Research, 2016, 26 (4), pp.474-485. ⟨10.1101/gr.196048.115⟩ Article dans une revue hal-01282340v1
Refinement of genotype-phenotype correlation in 18 patients carrying a 1q24q25 deletion Nicolas Chatron,Véronique Haddad,Joris Andrieux,Julie Desir,Odile Bouteet al. American Journal of Medical Genetics Part A, 2015, 167 (5), pp.1008 - 1017. ⟨10.1002/ajmg.a.36856⟩ Article dans une revue istex hal-01684281v1
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