Paul Rollier

Publications

Article dans une revue (21)

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
Genetic analyses using chromosomal microarray and exome sequencing in fetuses and women with Müllerian duct anomalies Auriane Cospain,Paul Rollier,Anna Lokchine,Erika Launay,Ludivine Dionet al. Journal of Assisted Reproduction and Genetics, 2025, 42 (12), pp.4177-4189. ⟨10.1007/s10815-025-03691-3⟩ Article dans une revue hal-05345147v1
Acid Ceramidase Deficiency Silvestre Cuinat,Paul Rollier,Katheryn Grand,Pedro A Sanchez-Lara,Michelle Allen-Sharpleyet al. Neurology Genetics, 2025, 11 (2), pp.e200243. ⟨10.1212/nxg.0000000000200243⟩ Article dans une revue inserm-04994343v1
PERIGENOMED-CLINICS 1—the first study on feasibility, acceptability and psychosocial impact of PERIGENOMED: a pilot project aimed at providing initial concrete evidence on the relevance of panel-based genome sequencing for newborn screening (NBS) in France Camille Level,Christel Thauvin-Robinet,C Binquet,Yannis Duffourd,Emeline Davoineet al. Bmj Open, 2025, 15 (10), pp.e105752. ⟨10.1136/bmjopen-2025-105752⟩ Article dans une revue hal-05345188v1
A new syndromic case of hearing loss and ectodermal anomalies associated with a recurrent missense variation in GJB6 gene Badreddine Elmakhzen,Paul Rollier,Clémence Saillard,Benoît Godey,Cedric Le Marechalet al. Molecular Genetics and Genomic Medicine, 2025, 13 (5), pp.e2474. ⟨10.1002/mgg3.2474⟩ Article dans une revue hal-05097882v1
Optimizing care for MRKH patients: From malformation screening to uterus transplantation eligibility A. Cospain,Ludivine Dion,Maud Bidet,Krystel Nyangoh Timoh,Chloé Quélinet al. Acta Obstetricia et Gynecologica Scandinavica, 2024, ⟨10.1111/aogs.14985⟩ Article dans une revue hal-04767398v1
DISP1 deficiency: monoallelic and biallelic variants cause a spectrum of midline craniofacial malformations Alinoë Lavillaureix,Paul Rollier,Artem Kim,Veranika Panasenkava,Marie de Tayracet al. Genetics in Medicine, 2024, 26 (7), pp.101126. ⟨10.1016/j.gim.2024.101126⟩ Article dans une revue hal-04534147v1
Expanding the TUBB3‐Related Phenotypic Landscape: Fetal Diagnosis of Novel TUBB3 Variant Linked With Phenotypic Variability Within a Single Family Abdelhakim Bouazzaoui,Chloé Quélin,Celine Rozel,Wilfrid Carré,Christèle Dubourget al. Prenatal Diagnosis, 2024, ⟨10.1002/pd.6715⟩ Article dans une revue hal-04869950v1
RORA-neurodevelopmental disorder: A unique triad of developmental disabilities, cerebellar anomalies, and myoclonic seizures Mariagrazia Talarico,Julitta de Bellescize,Matthias de Wachter,Xavier Le Guillou,Guylène Le Meuret al. Genetics in Medicine, 2024, 27 (4), pp.101347. ⟨10.1016/j.gim.2024.101347⟩ Article dans une revue hal-05037055v1
Newborn Screening of Primary Carnitine Deficiency: An Overview of Worldwide Practices and Pitfalls to Define an Algorithm before Expansion of Newborn Screening in France Charles Lefèvre,François Labarthe,Diane Dufour,Caroline Moreau,Marie Faoucheret al. International Journal of Neonatal Screening, 2023, 9 (1), pp.6. ⟨10.3390/ijns9010006⟩ Article dans une revue hal-04165959v1
Long‐term follow‐up of 64 children with classical infantile‐onset Pompe disease since 2004: a French real‐life observational study M. Tardieu,C. Cudejko,A. Cano,C. Hoebeke,D. Bernouxet al. European Journal of Neurology, In press, 30 (9), pp.2828-2837. ⟨10.1111/ene.15894⟩ Article dans une revue hal-04108445v1
Laboratory medicine unveiling an unusual cause of D-lactic acidosis as the trigger of decompensation of a rare inborn error of metabolism Charles R. Lefèvre,Elise Sacaze,Léna Damaj,Paul Rollier,Marie Lenskiet al. Clinical Chemistry and Laboratory Medicine, 2023, Clinical Chemistry and Laboratory Medicine, 61 (12), pp.e263-e267. ⟨10.1515/cclm-2023-0425⟩ Article dans une revue hal-04554419v1
FOSL2 truncating variants in the last exon cause a neurodevelopmental disorder with scalp and enamel defects Auriane Cospain,Ana Rivera-Barahona,Erwan Dumontet,Blanca Gener,Isabelle Bailleul-Forestieret al. Genetics in Medicine, 2022, 24 (12), pp.2475-2486. ⟨10.1016/j.gim.2022.09.002⟩ Article dans une revue hal-03954791v1
Scarcity of available information resources for patients and clinicians after a diagnosis of ultra-rare diseases: retrospective on a cohort of 626 individuals with congenital abnormalities and/or intellectual disability Paul Rollier,Sandrine de Montgolfier,Christèle Dubourg,Wilfrid Carre,Véronique Davidet al. European Journal of Human Genetics, 2022, 30 (SUPPL 1), pp.583-583 Article dans une revue hal-03687603v1
Accelerated genome sequencing with controlled costs for infants in intensive care units: a feasibility study in a French hospital network Anne-Sophie Denommé-Pichon,Antonio Vitobello,Robert Olaso,Alban Ziegler,Médéric Jeanneet al. European Journal of Human Genetics, 2022, 30 (5), pp.567-576. ⟨10.1038/s41431-021-00998-4⟩ Article dans une revue hal-03854163v1
Correction to: Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities Virginie Carmignac,Cyril Mignot,Emmanuelle Blanchard,Paul Kuentz,Marie-Hélène Aubriot-Lortonet al. Genetics in Medicine, 2021, 23 (8), pp.1585. ⟨10.1038/s41436-021-01217-7⟩ Article dans une revue hal-03602381v1
Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities Virginie Carmignac,Cyril Mignot,Emmanuelle Blanchard,Paul Kuentz,Marie-Hélène Aubriot-Lortonet al. Genetics in Medicine, 2021, 23 (8), pp.1484-1491. ⟨10.1038/s41436-021-01161-6⟩ Article dans une revue hal-03602359v1
De novo missense variants in LMBRD2 are associated with developmental and motor delays, brain structure abnormalities and dysmorphic features Alka Malhotra,Alban Ziegler,Li Shu,Renee Perrier,Louise Amlie-Wolfet al. Journal of Medical Genetics, 2020, pp.jmedgenet-2020-107137. ⟨10.1136/jmedgenet-2020-107137⟩ Article dans une revue hal-02953511v1
Fast genome sequencing in less than 40 days for newborn patients in intensive care unit: a feasibility study allowing diagnosis in 56% of cases in a French hospital network A. Denomme-Pichon,A. Vitobello,Robert Olaso,A. Ziegler,Bertrand Isidoret al. European Journal of Human Genetics, 2020, 28 (Suppl 1), pp.607-607 Article dans une revue cea-04419424v1
Pseudodicentric Chromosome Originating from Autosomes 9 and 21 in a Male Patient with Oligozoospermia Marion Beaumont,Elena Tucker,Laura Mary,Erika Launay,Yann Lurtonet al. Cytogenetic and Genome Research, 2019, 159 (4), pp.201-207. ⟨10.1159/000504820⟩ Article dans une revue hal-02440057v1
Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia Claire Guissart,Xenia Latypova,Paul Rollier,Tahir Khan,Hannah Stambergeret al. American Journal of Human Genetics, 2018, 102 (5), pp.744 - 759. ⟨10.1016/j.ajhg.2018.02.021⟩ Article dans une revue hal-01796580v1

Communication dans un congrès (7)

Phenotypic and genotypic comparison between severe forms and microform of holoprosencephaly in a cohort of 173 individuals with pathogenic variants in SHH gene Ophelie Boutfol,Paul Rollier,Valérie Dupé,Artem Kim,Alinoë Lavillaureixet al. 58th Conference of the European-Society-of-Human-Genetics (ESHG), May 2025, Milan, Italy Communication dans un congrès hal-05563667v1
French guidelines for the diagnosis, follow-up and management of individuals with Smith-Lemli-Opitz syndrome and establishment of a French natural history cohort Paul Rollier,Sylvie Odent,Thierry Levade,Cecile Pagan,Antonin Lamazièreet al. 58th Conference of the European-Society-of-Human-Genetics (ESHG), May 2025, Milan, Italy Communication dans un congrès hal-05563662v1
ACUITEE: A Comprehensive Tool for Visualization, Editing and Curating textual Annotations in Clinical Data Moussa Baddour,Olivier Dameron,Marie de Tayrac,Stéphane Paquelet,Paul Rollieret al. EECSS 2025 - 11th World Congress on Electrical Engineering and Computer Systems and Sciences, Aug 2025, Paris, France. pp.1-9 Communication dans un congrès hal-04974765v1
Genetic and Clinical Insights into Alazami Syndrome. a series of 22 patients Océane Coudrieu,Valentin Ruault,Valérie Cormier-Daire,Nicola Brunetti-Pierri,Caroline Kannengiesseret al. 58th Conference of the European-Society-of-Human-Genetics (ESHG), May 2025, Milan, Italy Communication dans un congrès hal-05563666v1
Phenotypes Extraction from Text: Analysis and Perspective in the LLM Era Moussa Baddour,Stéphane Paquelet,Paul Rollier,Marie De Tayrac,Olivier Dameronet al. IS 2024 - 12th IEEE International Conference on Intelligent Systems, Aug 2024, Varna, Bulgaria. pp.1-8, ⟨10.1109/IS61756.2024.10705235⟩ Communication dans un congrès hal-04647016v1
Oligogenic inheritance in neural tube defects: major involvment of primary cilia, planar cell polarity and extracellular matrix genes Marie Faoucher,Artem Kim,Charles Brottier,Wilfrid Carré,Florence Demurgeret al. 55th European Society of Human Genetics (ESHG) Conference, Jun 2022, Vienna, Austria Communication dans un congrès hal-04286876v1
Pathogenicity assessment of DISP1 variants associated with midline anomalies spectrum Alinoë Lavillaureix,Paul Rollier,Artem Kim,Christèle Dubourg,Wilfrid Carréet al. 55th European Society of Human Genetics (ESHG) Conference, Jun 2022, Vienna, Austria Communication dans un congrès hal-04286966v1