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Paul Rollier

14
Documents

Publications

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

Alinoë Lavillaureix , Paul Rollier , Artem Kim , Veranika Panasenkava , Marie de Tayrac
Genetics in Medicine, 2024, pp.101126. ⟨10.1016/j.gim.2024.101126⟩
Article dans une revue hal-04534147v1

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
International Journal of Neonatal Screening, 2023, 9 (1), pp.6. ⟨10.3390/ijns9010006⟩
Article dans une revue hal-04165959v1
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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
European Journal of Neurology, In press, 30 (9), pp.2828-2837. ⟨10.1111/ene.15894⟩
Article dans une revue hal-04108445v1

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
European Journal of Human Genetics, 2022, 30 (5), pp.567-576. ⟨10.1038/s41431-021-00998-4⟩
Article dans une revue hal-03854163v1
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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
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 David
European Journal of Human Genetics, 2022, 30 (SUPPL 1), pp.583-583
Article dans une revue hal-03687603v1
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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
Genetics in Medicine, 2021, 23 (8), pp.1484-1491. ⟨10.1038/s41436-021-01161-6⟩
Article dans une revue hal-03602359v1

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
Genetics in Medicine, 2021, 23 (8), pp.1585. ⟨10.1038/s41436-021-01217-7⟩
Article dans une revue hal-03602381v1

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

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

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

Marion Beaumont , Elena Tucker , Laura Mary , Erika Launay , Yann Lurton
Cytogenetic and Genome Research, 2019, 159 (4), pp.201-207. ⟨10.1159/000504820⟩
Article dans une revue hal-02440057v1
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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
American Journal of Human Genetics, 2018, 102 (5), pp.744 - 759. ⟨10.1016/j.ajhg.2018.02.021⟩
Article dans une revue hal-01796580v1