Paul Rollier

22
Documents

Publications

Publications

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Acid Ceramidase Deficiency

Silvestre Cuinat , Paul Rollier , Katheryn Grand , Pedro A Sanchez-Lara , Michelle Allen-Sharpley et al.
Neurology Genetics, 2025, 11 (2), pp.e200243. ⟨10.1212/nxg.0000000000200243⟩
Article dans une revue inserm-04994343 v1
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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 Marechal et al.
Molecular Genetics and Genomic Medicine, 2025, 13 (5), pp.e2474. ⟨10.1002/mgg3.2474⟩
Article dans une revue hal-05097882 v1
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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 Meur et al.
Genetics in Medicine, 2024, 27 (4), pp.101347. ⟨10.1016/j.gim.2024.101347⟩
Article dans une revue hal-05037055 v1
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Optimizing care for MRKH patients: From malformation screening to uterus transplantation eligibility

A. Cospain , Ludivine Dion , Maud Bidet , Krystel Nyangoh Timoh , Chloé Quélin et al.
Acta Obstetricia et Gynecologica Scandinavica, 2024, ⟨10.1111/aogs.14985⟩
Article dans une revue hal-04767398 v1

DISP1 deficiency: monoallelic and biallelic variants cause a spectrum of midline craniofacial malformations

Alinoë Lavillaureix , Paul Rollier , Artem Kim , Veranika Panasenkava , Marie de Tayrac et al.
Genetics in Medicine, 2024, pp.101126. ⟨10.1016/j.gim.2024.101126⟩
Article dans une revue hal-04534147 v1
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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 Dubourg et al.
Prenatal Diagnosis, 2024, ⟨10.1002/pd.6715⟩
Article dans une revue hal-04869950 v1
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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. Bernoux et al.
European Journal of Neurology, In press, 30 (9), pp.2828-2837. ⟨10.1111/ene.15894⟩
Article dans une revue hal-04108445 v1
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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 Faoucher et al.
International Journal of Neonatal Screening, 2023, 9 (1), pp.6. ⟨10.3390/ijns9010006⟩
Article dans une revue hal-04165959 v1

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 Lenski et 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-04554419 v1
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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-Forestier et al.
Genetics in Medicine, 2022, 24 (12), pp.2475-2486. ⟨10.1016/j.gim.2022.09.002⟩
Article dans une revue hal-03954791 v1

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 David et al.
European Journal of Human Genetics, 2022, 30 (SUPPL 1), pp.583-583
Article dans une revue hal-03687603 v1

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 Jeanne et al.
European Journal of Human Genetics, 2022, 30 (5), pp.567-576. ⟨10.1038/s41431-021-00998-4⟩
Article dans une revue hal-03854163 v1

Correction to: Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities

Virginie Carmignac , Cyril Mignot , Emmanuelle Blanchard , Paul Kuentz , Marie-Hélène Aubriot-Lorton et al.
Genetics in Medicine, 2021, 23 (8), pp.1585. ⟨10.1038/s41436-021-01217-7⟩
Article dans une revue hal-03602381 v1
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Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities

Virginie Carmignac , Cyril Mignot , Emmanuelle Blanchard , Paul Kuentz , Marie-Hélène Aubriot-Lorton et al.
Genetics in Medicine, 2021, 23 (8), pp.1484-1491. ⟨10.1038/s41436-021-01161-6⟩
Article dans une revue hal-03602359 v1

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-Wolf et al.
Journal of Medical Genetics, 2020, pp.jmedgenet-2020-107137. ⟨10.1136/jmedgenet-2020-107137⟩
Article dans une revue hal-02953511 v1

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 Isidor et al.
European Journal of Human Genetics, 2020, 28 (Suppl 1), pp.607-607
Article dans une revue cea-04419424 v1

Pseudodicentric Chromosome Originating from Autosomes 9 and 21 in a Male Patient with Oligozoospermia

Marion Beaumont , Elena Tucker , Laura Mary , Erika Launay , Yann Lurton et al.
Cytogenetic and Genome Research, 2019, 159 (4), pp.201-207. ⟨10.1159/000504820⟩
Article dans une revue hal-02440057 v1
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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 Stamberger et al.
American Journal of Human Genetics, 2018, 102 (5), pp.744 - 759. ⟨10.1016/j.ajhg.2018.02.021⟩
Article dans une revue hal-01796580 v1
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ACUITEE: A Comprehensive Tool for Visualization, Editing and Curating textual Annotations in Clinical Data

Moussa Baddour , Olivier Dameron , Marie de Tayrac , Stéphane Paquelet , Paul Rollier et 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-04974765 v1
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Phenotypes Extraction from Text: Analysis and Perspective in the LLM Era

Moussa Baddour , Stéphane Paquelet , Paul Rollier , Marie De Tayrac , Olivier Dameron et 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-04647016 v1

Pathogenicity assessment of DISP1 variants associated with midline anomalies spectrum

Alinoë Lavillaureix , Paul Rollier , Artem Kim , Christèle Dubourg , Wilfrid Carré et al.
55th European Society of Human Genetics (ESHG) Conference, Jun 2022, Vienna, Austria
Communication dans un congrès hal-04286966 v1

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 Demurger et al.
55th European Society of Human Genetics (ESHG) Conference, Jun 2022, Vienna, Austria
Communication dans un congrès hal-04286876 v1