List of Publications
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Confirmation and Expansion of the Phenotype Associated with the Recurrent p.Val837Met Variant in TRPM3
de Sainte Agathe J-M, Van-Gils J, Lasseaux E, Arveiler B, Lacombe D, Pfirrmann C, Raclet V, Gaston L, Plaisant C, Aupy J, Trimouille A
European Journal of Medical Genetics. 2020 Aug;63(8):103942
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A. Triple diagnosis of Wiedemann‐Steiner, Waardenburg and DLG3‐related intellectual disability association found by WES: A case report
Matis T, Michaud V, Van‐Gils J, Raclet V, Plaisant C, Fergelot P, Lasseaux E, Arveiler B, Trimouille A
The Journal of Gene Medicine. 2020 Aug 19;22(8)
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Lentiginosis and café‐au‐lait macules as part of the phenotypic spectrum of PAX3‐related disorders
Morice‐Picard F, Letertre O, Lasseaux E, Cario‐Andre M, Arveiler B, Taieb A
Clinical and Experimental Dermatology. 2020 Jul 10;45(5):621–3
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Mitochondrial functions and rare diseases
Dard L, Blanchard W, Hubert C, Lacombe D, Rossignol R
Molecular aspects of medicine. 2020;71:100842
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Dopachrome tautomerase variants in patients with oculocutaneous albinism
Pennamen P, Tingaud-Sequeira A, Gazova I, Keighren M, McKie L, Marlin S, Gherbi Halem S, Kaplan J, Delevoye C, Lacombe D, Plaisant C, Michaud V, Lasseaux E, Javerzat S, Jackson I, Arveiler B
Genetics in Medicine. 2021 Mar;23(3):479–87
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BLOC1S5 pathogenic variants cause a new type of Hermansky–Pudlak syndrome
Pennamen P, Le L, Tingaud-Sequeira A, Fiore M, Bauters A, van Duong Béatrice N, Coste V, Bordet J-C, Plaisant C, Diallo M, Michaud V, Trimouille A, Lacombe D, Lasseaux E, Delevoye C, Picard FM, Delobel B, Marks MS, Arveiler B
Genetics in Medicine. 2020 Oct;22(10):1613–22
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Nuclear control of lung cancer cells migration, invasion and bioenergetics by eukaryotic translation initiation factor 3F
Esteves P, Dard L, Brillac A, Hubert C, Sarlak S, Rousseau B, Dumon E, Izotte J, Bonneu M, Lacombe D, Dupuy J-W, Amoedo N, Rossignol R
Oncogene. 2020;39(3):617–36
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A new case with Hermansky-Pudlak syndrome type 9, a rare cause of syndromic albinism with severe defect of platelets dense bodies
Michaud V, Fiore M, Coste V, Huguenin Y, Bordet J-C, Plaisant C, Lasseaux E, Morice-Picard F, Arveiler B
Platelets. 2021 Apr 3;32(3):420–3
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Albinism: An Underdiagnosed Condition
Arveiler B, Michaud V, Lasseaux E
The Journal of investigative dermatology. 2020;140(7):1449–51
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Delineation of phenotypes and genotypes related to cohesin structural protein RAD21
Krab LC, Marcos-Alcalde I, Assaf M, Balasubramanian M, Andersen JB, Bisgaard A-M, Fitzpatrick DR, Gudmundsson S, Huisman SA, Kalayci T, Maas SM, Martinez F, McKee S, Menke LA, Mulder PA, Murch OD, Parker M, Pie J, Ramos FJ, Rieubland C, Rosenfeld Mokry JA, Scarano E, Shinawi M, Gómez-Puertas P, Tümer Z, Hennekam RC
Human genetics. 2020 May;139(5):575–92