Alban Ziegler - Concepedia

Author

Alban Ziegler

Also Known As

A Ziegler, A. C. Ziegler, A. Ziegler, Alban C. Ziegler, Alban ZIEGLER, Alban Ziegler, Boris Chaumette, Cédrick Wallet, Estelle Colin, M Willems

115

Publications

Citations

H-Index

Concepts

All Affiliations

Inserm Université d'Angers Centre National de la Recherche Scientifique Assistance Publique – Hôpitaux de Paris Centre Hospitalier Universitaire d'Angers

About

Alban Ziegler is an author at Inserm specializing in medicine, genetics, and neurogenetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	11	12	690
2	Social Sciences	4	4	197
3	Cell Biology	2	2	221
4	Health Informatics	1	1	21
5	Hospital Medicine	1	1	21

Alban Ziegler

Publications

1.2K

Citations

H-Index

Page 1

	Year	Citations
Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development Ashley L. Lennox, Mariah L. Hoye, Ruiji Jiang, Neuron Developmental BiologyBrain DevelopmentDevelopmental GeneticsGeneticsRna Biology	2020	205
Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy Estelle Colin, Jens Daniel, Alban Ziegler, The American Journal of Human Genetics Molecular NeuroscienceMendelian DisorderBiallelic VariantsGenetic DisorderGenetics	2016	119
The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis Karin Weiss, Hayley P. Lazar, Alina Kurolap, Genetics in Medicine Mendelian DisorderGenetic DisorderGeneticsGenotype–phenotype CorrelationsGenetic Epidemiology	2019	97
Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions Alban Ziegler, Carrie Koval‐Burt, Denise M. Kay, JAMA	2024	78
CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum Enrico D.H. Konrad, Niels Nardini, Almuth Caliebe, Genetics in Medicine	2019	67
Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome Adrián Palencia‐Campos, Phillip C. Aoto, Erik M.F. Machal, The American Journal of Human Genetics Developmental AnomalyMosaic VariantsDevelopmental BiologyDysplasiaPrkacb Cause	2020	50
An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids Sacha Ferdinandusse, Kirsty McWalter, Heleen te Brinke, Genetics in Medicine	2020	49
De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder Ghayda Mirzaa, Jessica X. Chong, Amélie Piton, Genetics in Medicine Neurodevelopmental DisordersInherited VariantsSyndromic AutismGeneticsGenetic Disorder	2019	44
MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype Thomas Smol, Florence Petit, Amélie Piton, Neurogenetics Intellectual ImpairmentGenetic DisorderMed13l-related Intellectual DisabilityGenetic EpidemiologyRehabilitation	2018	42
Antisense oligonucleotide therapy in an individual with KIF1A-associated neurological disorder Alban Ziegler, Joanne Carroll, Jennifer Bain, Nature Medicine Neurodegenerative DiseasesNeurological DisorderPathologyNeurologyAntisense Therapy	2024	38

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