Agnès Bloch‐Zupan

Author

Agnès Bloch‐Zupan

Also Known As

A Bloch-Zupan, A. Bloch-Zupan, A. Bloch-Zupanh, A. Bloch‐Zupan, Agn??s Bloch-Zupan, Agnes Bloch Zupan, Agnes Bloch-Zupan, Agnes Bloch‐Zupan, Agnès BLOCH-ZUPAN, Agnès Bloch Zupan

141

Publications

2.9K

Citations

H-Index

Concepts

All Affiliations

Université de Strasbourg Inserm Hôpitaux Universitaires de Strasbourg Institut de génétique et de biologie moléculaire et cellulaire Centre National de la Recherche Scientifique

About

Agnès Bloch‐Zupan is an author at Université de Strasbourg specializing in medicine, developmental biology, and genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	16	19	639
2	Cell Biology	6	6	222
3	Anatomy	1	1	28
4	Biology	1	1	20
5	Cellular Physiology	1	1	77

Agnès Bloch‐Zupan

Publications

1.9K

Citations

H-Index

Page 1

	Year	Citations
Mutations in CNNM4 Cause Jalili Syndrome, Consisting of Autosomal-Recessive Cone-Rod Dystrophy and Amelogenesis Imperfecta David Parry, Alan J. Mighell, Walid El‐Sayed, The American Journal of Human Genetics	2009	166
A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement Megana Prasad, Véronique Geoffroy, Serge Vicaire, Journal of Medical Genetics	2015	134
Orodental phenotype and genotype findings in all subtypes of hypophosphatasia Amélie Reibel, Marie‐Cécile Manière, François Clauss, Orphanet Journal of Rare Diseases	2009	121
Homozygosity Mapping and Candidate Prioritization Identify Mutations, Missed by Whole-Exome Sequencing, in SMOC2, Causing Major Dental Developmental Defects Agnès Bloch‐Zupan, Xavier Jamet, Christelle Etard, The American Journal of Human Genetics Developmental AnomalyDevelopmental BiologyGenetic DisorderWhole-exome SequencingGenetics	2011	104
Nephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal Recessive FAM20A Mutations Graciana Jaureguiberry, Muriel de La Dure‐Molla, David Parry, Nephron Physiology	2013	102
Hypomorphic mutations of TRIP11 cause odontochondrodysplasia Anika Wehrle, Tomasz M. Witkos, Sheila Unger, JCI Insight GeneticsMolecular GeneticsCytoskeletonHypomorphic MutationsCellular Physiology	2019	77
Clinical utility gene card for: Hypophosphatasia – update 2013 Étienne Mornet, Christine Hofmann, Agnès Bloch‐Zupan, European Journal of Human Genetics Gene TherapiesMedicineGeneticsPathogenesisClinical Genetics	2013	69
SNP genome scanning localizes oto-dental syndrome to chromosome 11q13 and microdeletions at this locus implicate FGF3 in dental and inner-ear disease and FADD in ocular coloboma Cheryl Y. Gregory‐Evans, Mariya Moosajee, Matt Hodges, Human Molecular Genetics	2007	59
<i>SLC13A5</i> is the second gene associated with Kohlschütter–Tönz syndrome Anna Schossig, Agnès Bloch‐Zupan, Adrian Lussi, Journal of Medical Genetics	2016	55
Amelogenesis imperfecta: Next-generation sequencing sheds light on Witkop’s classification Agnès Bloch‐Zupan, Tristan Rey, Alexandra Jimenez-Armijo, Frontiers in Physiology	2023	54

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