Concepedia

Jean‐Michaël Mazzella

JM

Statistics

Publications

10

Citations

769

H-Index

10

Active since

2015

Affiliations

Assistance Publique – Hôpitaux de Paris(Current)

Université Paris Cité

Inserm

Hôpital Européen Georges-Pompidou

Paris Cardiovascular Research Center

Jean‐Michaël Mazzella is an author at Assistance Publique – Hôpitaux de Paris specializing in medical genetics, human genetics, and genetics.

Publications per year

2015–2023

10

Publications

10

The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers–Danlos syndrome

Michael Frank, Juliette Albuisson, Brigitte Ranque et al. · European Journal of Human Genetics · 2015 · 239 citations · Full text

, , +9

Vascular Ehlers-Danlos Syndrome

Michael Frank, Salma Adham, Stéphanie Seigle et al. · Journal of the American College of Cardiology · 2019 · 173 citations

Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease

Marion Lenglet, Florence Robriquet, Klaus Schwarz et al. · Blood · 2018 · 97 citations · Full text

, , +16

Mutation spectrum in the ABCC6 gene and genotype–phenotype correlations in a French cohort with pseudoxanthoma elasticum

Anne Legrand, Laurence Cornez, Wafa Samkari et al. · Genetics in Medicine · 2017 · 89 citations · Full text

, , +14

Risk assessment of maternally inherited <i>SDHD</i> paraganglioma and phaeochromocytoma

Nelly Burnichon, Jean‐Michaël Mazzella, Delphine Drui et al. · Journal of Medical Genetics · 2016 · 55 citations

, , +16

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