Concepedia

Author

Médéric Jeanne

Université de ToursORCID

Also Known As

Jeanne M. Nerbonne (276351), M. Jeanne, Mederic Jeanne, Médéric Jeanne, Sophie Blesson, Yvan Herenger, Yvan Jamilloux

35

Publications

485

Citations

13

H-Index

27

Concepts

All Affiliations

Université de ToursCentre Hospitalier Universitaire de ToursInsermCentre National de la Recherche ScientifiqueInstitut du Thorax
MJ

About

Médéric Jeanne is an author at Université de Tours specializing in medicine, genetics, and neurogenetics.

Top Concepts

#ConceptH-IndexPublicationsCitations

1

Medicine

5

5

104

2

Social Sciences

2

2

55

3

Cell Biology

1

1

15

4

Health Informatics

1

1

21

5

Hospital Medicine

1

1

21

Médéric Jeanne

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9

Publications

244

Citations

9

H-Index

YearCitations

Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions

Alban Ziegler, Carrie Koval‐Burt, Denise M. Kay,

JAMA

2024

78

Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities

Médéric Jeanne, Hélène Demory, Aubin Moutal,

The American Journal of Human Genetics

2021

40

Rare disease diagnosis using knowledge guided retrieval augmentation for ChatGPT

Charlotte Zelin, Wendy K. Chung, Médéric Jeanne,

Journal of Biomedical Informatics

2024

28

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,

European Journal of Human Genetics

2021

21

Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool

Frédéric Tran Mau‐Them, Julian Delanne, Anne‐Sophie Denommé‐Pichon,

Frontiers in Genetics

2023

21

Haploinsufficiency of the HIRA gene located in the 22q11 deletion syndrome region is associated with abnormal neurodevelopment and impaired dendritic outgrowth

Médéric Jeanne, Marie‐Laure Vuillaume, Dévina C. Ung,

Human Genetics

2021

18

<i>SEMA6B</i> variants cause intellectual disability and alter dendritic spine density and axon guidance

Amélie Cordovado, Martina Schaettin, Médéric Jeanne,

Human Molecular Genetics

2022

15

Heterozygous variants in <scp> <i>ZBTB7A</i> </scp> cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin

Charlotte von der Lippe, Kristian Tveten, Trine Prescott,

American Journal of Medical Genetics Part A

2021

13

Whole genome sequencing identifies a de novo 2.1 Mb balanced paracentric inversion disrupting FOXP1 and leading to severe intellectual disability

Marie‐Laure Vuillaume, Benjamin Cogné, Médéric Jeanne,

Clinica Chimica Acta

2018

10

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