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David Cheillan

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Medical Biologist

Hospices Civils de Lyon

France

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Open Date: 2022-01-01

Close Date: 2024-01-01

Articles (20)

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2026

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Collaborators (19)

Claire Guissart

Université de Montpellier

FRANCE

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Mei Baker

Professor

University of Wisconsin School of Medicine and Public Health

UNITED STATES

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Anne-Frederique Dessein

Université de Lille

FRANCE

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Catherine Calzada

Senior Research Scientist

CNRS Délégation Rhône-Auvergne

FRANCE

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Paul Kuentz

Professeur des Universités-Praticien Hospitalier

Centre Hospitalier Universitaire Vaudois

FRANCE

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Maximilian Zeyda

Medical University of Vienna

AUSTRIA

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Lenka Noskova

Charles University

CZECH REPUBLIC

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Marie Bækvad-Hansen

Statens Serum Institut

DENMARK

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Urh Groselj

University of Ljubljana

SLOVENIA

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Joseph Dewulf

Head of Laboratory of Bochemical Genetics and newborn screening

Cliniques Universitaires Saint-Luc

BELGIUM

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ARMELLE PENHOAT

Université Claude Bernard Lyon 1

FRANCE

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François Boemer

University Hospital

BELGIUM

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Marie-Caroline Michalski

Research Director

INRA Centre Clermont-Ferrand-Theix-Lyon

FRANCE

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Mette Nyegaard

Head of Department

Aalborg University

DENMARK

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Behrouz Kassai

Professor

Université Claude Bernard Lyon 1

FRANCE

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Ildikó Szatmári

Head of Laboratory

Semmelweis University

HUNGARY

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Cecile Vors

Researcher

INSERM

FRANCE

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Peter Schielen

senior scientist/senior advisor

National Institute for Public Health and the Environment

NETHERLANDS

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Alberto B. Burlina

ITALY

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David Cheillan

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Articles (20)

Features and Legal Practice of Dried Blood Spot Card Biobanking in Europe: Balancing Research Potential with Parental and Children’s Rights

Gut commensal Bacteroides faecichinchillae, a potential novel candidate of next-generation probiotics targeting type 2 diabetes

ISNS General Guidelines for Neonatal Bloodspot Screening 2025

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

An ALG12-CDG patient with a novel homozygous intronic mutation associated with low ALG12 mRNA

Evaluation of the effects of metformin on gut functions and microbiota and their contribution to improving glucose tolerance in diabetic mice

The ELOVL proteins: Very and ultra long-chain fatty acids at the crossroads between metabolic and neurodegenerative disorders

Intestinal absorption of sphingosine: new insights on generated ceramide species using stable isotope tracing in vitro

A pseudoautosomal glycosylation disorder prompts the revision of dolichol biosynthesis.

Clinical Characteristics, Developmental Trajectory, and Caregiver Burden of Patients With Creatine Transporter Deficiency ( <i>SLC6A8</i> )

HeterozygousSPTLC1p.Leu39del is a major cause of slow-progressing juvenile ALS

Evaluation of a New Tandem Mass Spectrometry Method for Sickle Cell Disease Newborn Screening

A pseudoautosomal glycosylation disorder prompts the revision of dolichol biosynthesis (vol 187, pg 3585, 2024)

Diagnostic challenge between a frequent polygenic hypocholesterolemia and an unusual Smith Lemli Opitz syndrome related to bi-allelic <i>DHCR7</i> mutations

Functional and Molecular Characterization of New SPTLC1 Missense Variants in Patients with Hereditary Sensory and Autonomic Neuropathy Type 1 (HSAN1)

Molecular analysis of ABCD1 gene in moroccan patients with X-linked adrenoleukodystrophy

Newborn Screening of Primary Carnitine Deficiency: An Overview of Worldwide Practices and Pitfalls to Define an Algorithm before Expansion of Newborn Screening in France

Reply to Maase et al. Comment on “Jones et al. Application of a Novel Algorithm for Expanding Newborn Screening for Inherited Metabolic Disorders across Europe. <i>Int. J. Neonatal Screen.</i> 2022, <i>8</i>, 20”

Autosomal dominant Zellweger spectrum disorder caused by de novo variants in PEX14 gene

LC-MS/MS quantification of three C16 sulfatide species in dried blood spots for the diagnosis and treatment monitoring of metachromatic leukodystrophy

Collaborators (19)

Claire Guissart

Mei Baker

Anne-Frederique Dessein

Catherine Calzada

Paul Kuentz

Maximilian Zeyda

Lenka Noskova

Marie Bækvad-Hansen

Urh Groselj

Joseph Dewulf

ARMELLE PENHOAT

François Boemer

Marie-Caroline Michalski

Mette Nyegaard

Behrouz Kassai

Ildikó Szatmári

Cecile Vors

Peter Schielen

Alberto B. Burlina

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