massimiliano rossi

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Publications

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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-05290669 v1
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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-05290775 v1

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, 2025, 61 (2), pp.109 - 116. ⟨10.1136/jmg-2023-109288⟩
Article dans une revue hal-05290787 v1

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-05246796 v1
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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-05290652 v1

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-04980410 v1
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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-05290645 v2
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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-04892293 v1
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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-05290769 v1
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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-05121483 v1
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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-05290644 v1
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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-05290610 v1
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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-04567616 v1

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-05290581 v1

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-05290624 v1
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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-05290738 v1
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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, pp.287 - 296. ⟨10.1038/s41380-023-02323-5⟩
Article dans une revue hal-05290745 v1
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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-05290572 v1
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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-04587703 v1

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-05290783 v1
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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-05290673 v1
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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-05290750 v1

<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-05290658 v1

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-05290620 v1
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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, ⟨10.1186/s13023-021-01957-4⟩
Article dans une revue hal-05290398 v1
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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-05290616 v1
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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-05290598 v1
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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-05290641 v1

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-05290777 v1
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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-05290660 v1

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 hal-05320321 v1
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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-05290780 v1

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-05290665 v1

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-05123008 v1
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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-04892404 v1

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, 57 (5), pp.301 - 307. ⟨10.1136/jmedgenet-2018-105389⟩
Article dans une revue hal-05290566 v1
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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-04480033 v1

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-04094444 v1

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-01560452 v1
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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 Causse et al.
Genome Research, 2016, 26 (4), pp.474-485. ⟨10.1101/gr.196048.115⟩
Article dans une revue hal-01282340 v1
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Perspectives actuelles dans la microdélétion 22q11.2 : prise en charge du phénotype neurocomportemental

Caroline Demily , M. Rossi , M. Schneider , P. Edery , Arnaud Leleu et al.
L'Encéphale, 2015, 41 (3), pp.266-273. ⟨10.1016/j.encep.2014.10.005⟩
Article dans une revue hal-01205624 v1
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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-00927620 v1

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-05290850 v1

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-04989351 v1