A Munnich

3.1k citations

37 papers · 1.1k indexed · h-index 14

Impact in

Clinical Biochemistry top 2%
- Metabolism and Genetic Disorders
Genetics top 5%

Papers in ⓘ

Molecular Biology 21
- Mitochondrial Function and Pathology 4
- RNA modifications and cancer 3
- Retinal Development and Disorders 3
Genetics 13
- Genomic variations and chromosomal abnormalities 4
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities 3
- Neurogenetic and Muscular Disorders Research 3

Co-authors: Stanislas Lyonnet (13 shared papers)Jacky Bonaventure (2 shared papers)Jean Marie Saudubray (2 shared papers)Laurence Legeai‐Mallet (1 shared paper)Jean‐Paul Bonnefont (5 shared papers)Catherine Benoist-Lasselin (1 shared paper)Daniel Rabier (3 shared papers)M. Brivet (2 shared papers)
Journals: Journal of Medical Genetics (7 papers)Human Molecular Genetics (3 papers)Clinical Genetics (3 papers)Journal of Clinical Investigation (2 papers)Cytogenetic and Genome Research (2 papers)
Partner nations: France Poland United Kingdom

In The Last Decade

A Munnich

36 papers receiving 1.0k citations

Peers

Countries citing papers authored by A Munnich

Since Specialization

Citations

This map shows the geographic impact of A Munnich's research. It shows the number of citations coming from papers published by authors working in each country. You can also color the map by specialization and compare the number of citations received by A Munnich with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites A Munnich more than expected).

Fields of papers citing papers by A Munnich

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by A Munnich. Nodes represent research fields, and links connect fields that are likely to share authors. Colored nodes show fields that tend to cite the papers produced by A Munnich. The network helps show where A Munnich may publish in the future.

Co-authors

The 25 scholars most cited alongside A Munnich, linked wherever they have co-authored with each other. Click a name or a connecting line to browse the papers they share.

Border = papers with A Munnich Line = papers co-authored together A Munnich links everyone, so they are left out of the graph.

All Works

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20 of 20 papers shown

Showing the 20 most-cited of 37 papers — load more, or switch the sort, to bring in the rest.

#	Work
1	Mutations in the cationic trypsinogen gene and evidence for genetic heterogeneity in hereditary pancreatitis Journal of Medical Genetics ·Claude Férec, Odile Raguénès, Rémi Salomon, (unknown), J.-P. Bernard, M Guillot, I. Quéré, Christophe Fauré, Bernard Mercier, M.‐P. Audrézet, P.-J. Guillausseau, Céline Dupont, A Munnich, Jean‐Denis Bignon, L. Le Bodic	1999	143
2	Human trifunctional protein deficiency: A new disorder of mitochondrial fatty acid β-oridation Biochemical and Biophysical Research Communications ·Ronald J. A. Wanders, Lodewijk IJlst, F Poggi, Jean‐Paul Bonnefont, A Munnich, M. Brivet, Daniel Rabier, Jean Marie Saudubray	1992	134
3	Expression of the Sonic hedgehog (SHH) Gene during Early Human Development and Phenotypic Expression of New Mutations Causing Holoprosencephaly Human Molecular Genetics ·Sylvie Odent, Tania Attié‐Bitach, Martine Blayau, M Mathieu, J. Augé, Anne‐Lise Delezoide, J. Y. Le Gall, B. Le Marec, A Munnich, Véronique David, Michel Vekemans	1999	123
4	Various mechanisms cause RET-mediated signaling defects in Hirschsprung's disease. Journal of Clinical Investigation ·Anna Pelet, Olivier Geneste, Patrick Edery, Andrea Pasini, S Chappuis, T Atti, A Munnich, Gilbert Lenoir, Stanislas Lyonnet, Marc Billaud	1998	83
5	Overexpression of FGFR3, Stat1, Stat5 and p21Cip1 correlates with phenotypic severity and defective chondrocyte differentiation in FGFR3-related chondrodysplasias Bone ·Laurence Legeai‐Mallet, Catherine Benoist-Lasselin, A Munnich, Jacky Bonaventure	2003	82
6	Mutations of the retinal specific ATP binding transporter gene (ABCR) in a single family segregating both autosomal recessive retinitis pigmentosa RP19 and Stargardt disease: evidence of clinical heterogeneity at this locus Journal of Medical Genetics ·Jean‐Michel Rozet, S. Gerber, Imad Ghazi, Isabelle Perrault, Dominique Ducroq, Eric Souied, Annick Cabot, J.L. Dufier, A Munnich, Josseline Kaplan	1999	74
7	Large deletion of the peroxisomal acyl-CoA oxidase gene in pseudoneonatal adrenoleukodystrophy. Journal of Clinical Investigation ·B. Fournier, Jean Marie Saudubray, Bernard Bénichou, Stanislas Lyonnet, A Munnich, Hans Clevers, Bwee Tien Poll‐The	1994	62
8	Sex related expressivity of the phenotype in coronal craniosynostosis caused by the recurrent P250R FGFR3 mutation Journal of Medical Genetics ·Elisabeth Lajeunie, Vincent El Ghouzzi, M Le Merrer, A Munnich, Jacky Bonaventure, Dominique Rénier	1999	62
9	Atypical findings in Kabuki syndrome: Report of 8 patients in a series of 20 and review of the literature American Journal of Medical Genetics Part A ·David Geneviève, Jeanne Amiel, Géraldine Viot, M. Le Merrer, Damien Sanlaville, Andoni Urtizberea, M. Gérard, A Munnich, Valérie Cormier‐Daire, Stanislas Lyonnet	2004	58
10	Mutations in PHD‐like domain of the ATRX gene correlate with severe psychomotor impairment and severe urogenital abnormalities in patients with ATRX syndrome Clinical Genetics ·Catherine Badens, Caroline Lacoste, N. Philip, Nathalie Martini, Serge Courrier, Fabienne Giuliano, Alain Verloès, A Munnich, Bruno Leheup, Lydie Bürglen, Sylvie Odent, Hilde Van Esch, Nicolas Lévy	2006	37
11	Severe manifestations in carrier females in X linked retinitis pigmentosa. Journal of Medical Genetics ·E. Souied, Bertrand Ségues, Imad Ghazi, Jean‐Michel Rozet, Sophie Châtelin, S. Gerber, Isabelle Perrault, A Michel-Awad, Marie‐Louise Briard, Ghislaine Plessis, Jean‐Louis Dufier, A Munnich, Josseline Kaplan	1997	36
12	Single-strand conformation polymorphism for detection of mutations and base substitutions in phenylketonuria. PubMed ·Philippe Labrune, Dominique Melle, F.A. Rey, M. Berthelon, Catherine Caillaud, Jean Rey, A Munnich, Stanislas Lyonnet	1991	36
13	Monozygotic twins discordant for submicroscopic chromosomal anomalies in 2p25.3 region detected by array CGH Clinical Genetics ·Marlène Rio, G Royer, Stéphanie Gobin, M-C de Blois, Catherine Ozilou, Alain Bernheim, Mathilde Nizon, A Munnich, Jean‐Paul Bonnefont, Serge Romana, Michel Vekemans, C Turleau, Valérie Malan	2012	23
14	Approach to the patient with a fatty acid oxidation disorder. PubMed ·Saudubray Jm, G. H. Mitchell, Jean‐Paul Bonnefont, Gary J. Schwartz, C. Nuttin, A Munnich, M. Brivet, Anne Vassault, France Demaugre, Daniel Rabier	1992	14
15	Genetic background of clinical homogeneity of phenylketonuria in Poland. Journal of Medical Genetics ·Jadwiga Jaruzelska, Renata Matuszak, Stanislas Lyonnet, F.A. Rey, Jean Rey, Jolanta Filipowicz, Krzysztof Borski, A Munnich	1993	13
16	Site specific screening for point mutations in ornithine transcarbamylase deficiency. PubMed ·D Feldmann, Jean‐Michel Rozet, Anna Pelet, D Hentzen, Pascale Briand, P. Hübert, C Largillière, Daniel Rabier, J. P. Farriaux, A Munnich	1992	9
17	Usher syndrome type I is not linked to D1S81 (pTHH 33): evidence for genetic heterogeneity. PubMed ·J.‐C. Kaplan, G Guasconi, Dominique Bonneau, Judith Melki, M L Briard, A Munnich, Jean‐Louis Dufier, J Frézal	1990	8
18	Two distinct mutations at a single BamHI site in phenylketonuria. Journal of Medical Genetics ·Dominique Melle, P Verelst, F. Rey, M. Berthelon, Bruno François, A Munnich, Stanislas Lyonnet	1991	8
19	[Mutations of RET proto-oncogene in Hirschsprung disease]. PubMed ·Stanislas Lyonnet, Patrick Edery, LM Mulligan, Anna Pelet, Eleanor Dow, Laurent Abel, Susan Holder, Claire Nihoul‐Feketé, B. A. J. Ponder, A Munnich	1994	8
20	A TaqI polymorphism in the human cyclin A gene Nucleic Acids Research ·P. Pateriini, Maria Stella De Mitri, Cindy M. Martin, A Munnich, Christian Bréchot	1991	7

About A Munnich

A Munnich is a scholar working on Molecular Biology, Genetics, Clinical Biochemistry, Surgery and Cancer Research, having authored 37 papers that have together received 1.1k indexed citations. Recurring topics across this work include Metabolism and Genetic Disorders (10 papers), Congenital gastrointestinal and neural anomalies (4 papers), Mitochondrial Function and Pathology (4 papers), Genomic variations and chromosomal abnormalities (4 papers), RNA modifications and cancer (3 papers), Retinal Development and Disorders (3 papers), Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities (3 papers) and Neurogenetic and Muscular Disorders Research (3 papers). The work is most often cited by research in Clinical Biochemistry (216 citations), Genetics (347 citations), Molecular Biology (685 citations), Ophthalmology (83 citations) and Oncology (166 citations). A Munnich has collaborated with scholars based in France, Poland and United Kingdom. Frequent co-authors include Stanislas Lyonnet, Jacky Bonaventure, Jean Marie Saudubray, Laurence Legeai‐Mallet, Jean‐Paul Bonnefont, Catherine Benoist-Lasselin, Daniel Rabier, M. Brivet, Lodewijk IJlst and Ronald J. A. Wanders. Their work appears in journals such as Journal of Medical Genetics, Human Molecular Genetics, Clinical Genetics, Journal of Clinical Investigation and Cytogenetic and Genome Research.

Rankless uses publication and citation data sourced from OpenAlex, an open and comprehensive bibliographic database. While OpenAlex provides broad and valuable coverage of the global research landscape, it—like all bibliographic datasets—has inherent limitations. These include incomplete records, variations in author disambiguation, differences in journal indexing, and delays in data updates. As a result, some metrics and network relationships displayed in Rankless may not fully capture the entirety of a scholar's output or impact.

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