massimiliano rossi

Publications

Article dans une revue (39)

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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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, 57 (5), pp.301 - 307. ⟨10.1136/jmedgenet-2018-105389⟩ Article dans une revue hal-05290566v1
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
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
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
Perspectives actuelles dans la microdélétion 22q11.2 : prise en charge du phénotype neurocomportemental Caroline Demily,M. Rossi,M. Schneider,P. Edery,Arnaud Leleuet al. L'Encéphale, 2015, 41 (3), pp.266-273. ⟨10.1016/j.encep.2014.10.005⟩ Article dans une revue hal-01205624v1
ZEB2, a new candidate gene for asplenia. Linda Pons,Sophie Dupuis-Girod,Marie-Pierre Cordier,Patrick Edery,Massimiliano Rossi Orphanet Journal of Rare Diseases, 2014, 9 (1), pp.2. ⟨10.1186/1750-1172-9-2⟩ Article dans une revue inserm-00927620v1

Chapitre d'ouvrage (2)

What to Ask to the Geneticist in Craniosynostosis? Pauline Marzin,Alessandro de Falco,Corine Collet,Massimiliano Rossi Neurosurgical Aspects of Craniosynostosis, Springer Nature Switzerland, pp.331-341, 2024, ⟨10.1007/978-3-031-69386-1_25⟩ Chapitre d'ouvrage hal-05290850v1
Accéder au séquençage pangénomique : ambivalence et incertitude Françoise Robert,Patrick Edery,Massimiliano Rossi,Damien Sanlaville,Laurence Faivre Maladies rares : l'apport des recherches en sciences humaines et sociales, Erès éditions, 2023, 9782749277707 Chapitre d'ouvrage hal-04989351v1

Autre publication scientifique (1)

Protocole National de Diagnostic et Soins “Chondrodysplasies ponctuées: déficit de la biosynthèse du cholestérol et déficit en arylsulfatase E M. Rossi,Damien Haye 2022 Autre publication scientifique hal-05290875v1