Author

Agnès Bloch‐Zupan

Observed names: A Bloch-Zupan, A Bloch-Zupan (16047047), A Bloch-zupan, A Zupan-Bloch, A. Bloch-Zupan, A. Bloch-Zupanh, A. Bloch-zupan, A. Bloch‐Zupan, Agn??s Bloch-Zupan, Agnes Bloch Zupan, Agnes Bloch-Zupan, Agnes Bloch-zupan, Agnes Bloch‐Zupan, Agnès Bloch, Agnès Bloch Zupan, Agnès Bloch-Zupan, Agnès Bloch-zupan, Agnés Bloch-Zupan, BLOCH-ZUPAN, Agnès, Bloch, Agnès, Bloch-Zupan A, Bloch-Zupan Agnes, Bloch-Zupan, A, Bloch-Zupan, A., Bloch-Zupan, A.:, Bloch-Zupan, Agnes, Bloch-Zupan, Agnès

Institutions: Centre National de la Recherche Scientifique, Inserm, Institut de génétique et de biologie moléculaire et cellulaire, Hôpitaux Universitaires de Strasbourg, Hôpital Civil, Strasbourg, ERN CRANIO, Université de Strasbourg

Observed institutions: University of Iowa, Hôpital Necker-Enfants Malades, Centre National de la Recherche Scientifique, Inserm, Great Ormond Street Hospital, Great Ormond Street Hospital for Children NHS Foundation Trust, Institut de génétique et de biologie moléculaire et cellulaire, Phénotypage et ingénierie précliniques des systèmes d’organismes modèles, Hôpitaux Universitaires de Strasbourg, Institute of Medical Biology, Eastman Dental Hospital, Institut de Biologie Moléculaire et Cellulaire, Montreal Clinical Research Institute, Hôpital Civil, Strasbourg, ERN CRANIO, Laboratoire de Génétique Médicale, Université Marie et Louis Pasteur, University College London, Université de Strasbourg

ORCID: 0000-0002-6511-2615

Observed ORCID: 0000-0002-6511-2615

OpenAlex ID: A5042227654

Amelogenesis imperfecta

2007 · Peter JM Crawford, Michael Aldred, et al. · Orphanet Journal of Rare Diseases · 412

Mutation update for the CSB / ERCC6 and CSA / ERCC8 genes involved in Cockayne syndrome

2009 · V. Laugel, C. Dalloz, et al. · Human Mutation · 232

Mutations in CNNM4 Cause Jalili Syndrome, Consisting of Autosomal-Recessive Cone-Rod Dystrophy and Amelogenesis Imperfecta

2009 · David A. Parry, Alan J. Mighell, et al. · The American Journal of Human Genetics · 167

A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement

2015 · Megana K Prasad, Véronique Geoffroy, et al. · Journal of Medical Genetics · 136

Systematic Review of Studies Comparing the Anti-Caries Efficacy of Children’s Toothpaste Containing 600 ppm of Fluoride or Less with High Fluoride Toothpastes of 1,000 ppm or Above

2003 · A.B. Ammari, A. Bloch-Zupan, et al. · Caries Research · 135

Orodental phenotype and genotype findings in all subtypes of hypophosphatasia

2009 · Amélie Reibel, Marie-Cécile Manière, et al. · Orphanet Journal of Rare Diseases · 120

Nephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal Recessive FAM20A Mutations

2013 · Graciana Jaureguiberry, Muriel De la Dure-Molla, et al. · Nephron Physiology · 106

Homozygosity Mapping and Candidate Prioritization Identify Mutations, Missed by Whole-Exome Sequencing, in SMOC2, Causing Major Dental Developmental Defects

2011 · Agnès Bloch-Zupan, Xavier Jamet, et al. · The American Journal of Human Genetics · 102

Pathognomonic oral profile of Enamel Renal Syndrome (ERS) caused by recessive FAM20A mutations

2014 · Muriel de la Dure-Molla, Mickael Quentric, et al. · Orphanet Journal of Rare Diseases · 91

Elements of morphology: Standard terminology for the teeth and classifying genetic dental disorders

2019 · Muriel de La Dure‐Molla, Benjamin Philippe Fournier, et al. · American Journal of Medical Genetics Part A · 88

Hypomorphic mutations of TRIP11 cause odontochondrodysplasia

2019 · Anika Wehrle, Tomasz M. Witkos, et al. · JCI Insight · 79

Hypophosphatasia: diagnosis and clinical signs – a dental surgeon perspective

2016 · Agnès Bloch‐Zupan · International Journal of Paediatric Dentistry · 73

Amelogenesis imperfecta: Next-generation sequencing sheds light on Witkop’s classification

2023 · Agnes Bloch-Zupan, Tristan Rey, et al. · Frontiers in Physiology · 71

Clinical utility gene card for: Hypophosphatasia – update 2013

2013 · Etienne Mornet, Christine Hofmann, et al. · European Journal of Human Genetics · 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

2007 · C. Y. Gregory-Evans, M. Moosajee, et al. · Human Molecular Genetics · 60

PFMG2025–integrating genomic medicine into the national healthcare system in France

2025 · Caroline Abadie, Aldja Abderrahmane, et al. · The Lancet Regional Health - Europe · 57

SLC13A5 is the second gene associated with Kohlschütter–Tönz syndrome

2016 · Anna Schossig, Agnès Bloch-Zupan, et al. · Journal of Medical Genetics · 54

Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta

2015 · Mathilde Huckert, Corinne Stoetzel, et al. · Human Molecular Genetics · 49

A novel homeobox mutation in thePITX2gene in a family with Axenfeld‐Rieger syndrome associated with brain, ocular, and dental phenotypes

2006 · Faisal Idrees, Agnes Bloch‐Zupan, et al. · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · 48

An autosomal recessive cone–rod dystrophy associated with amelogenesis imperfecta

2004 · M Michaelides, A Bloch-Zupan, et al. · Journal of Medical Genetics · 48

Roles of retinoic acid receptors and of Hox genes in the patterning of the teeth and of the jaw skeleton

1995 · M Mark, D Lohnes, et al. · The International Journal of Developmental Biology · 46

Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement

2024 · Didier Lacombe, Agnès Bloch-Zupan, et al. · Journal of Medical Genetics · 45

The appearance of the feet in Pfeiffer syndrome caused by FGFR1 P252R mutation

2003 · Massimiliano Rossi, Rachel L. Jones, et al. · Clinical Dysmorphology · 42

Amelogenesis Imperfecta

2016 · M.K. Prasad, S. Laouina, et al. · Journal of Dental Research · 40

Homozygous and Compound Heterozygous MMP20 Mutations in Amelogenesis Imperfecta

2013 · B. Gasse, E. Karayigit, et al. · Journal of Dental Research · 39

Works count: 184

Citation count: 3,546

H-index: 32

I10-index: 73