Frédéric Tran Mau‐Them

4.1k citations

30 papers · 397 indexed · h-index 11

Co-authors: Peter J. Coopman Sylvain Godreuil Jérôme Solassol Julie A. Vendrell Laurence Faivre Christophe Philippe Sébastien Moutton Ange‐Line Bruel
Topics: Genomics and Rare Diseases (11 papers)Genomic variations and chromosomal abnormalities (6 papers)Genetics and Neurodevelopmental Disorders (6 papers)
Cited by: Genetics Cancer Research Molecular Biology
Journals: Proceedings of the National Academy of Sciences The EMBO Journal International Journal of Molecular Sciences
Partner nations: France Germany United States

In The Last Decade

Frédéric Tran Mau‐Them

29 papers receiving 393 citations

Peers

Countries citing papers authored by Frédéric Tran Mau‐Them

Since Specialization

Citations

This map shows the geographic impact of Frédéric Tran Mau‐Them'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 Frédéric Tran Mau‐Them with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Frédéric Tran Mau‐Them more than expected).

Fields of papers citing papers by Frédéric Tran Mau‐Them

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Frédéric Tran Mau‐Them. 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 Frédéric Tran Mau‐Them. The network helps show where Frédéric Tran Mau‐Them may publish in the future.

Co-authorship network of co-authors of Frédéric Tran Mau‐Them

This figure shows the co-authorship network connecting the top 25 collaborators of Frédéric Tran Mau‐Them. A scholar is included among the top collaborators of Frédéric Tran Mau‐Them based on the total number of citations received by their joint publications. Widths of edges represent the number of papers authors have co-authored together. Node borders signify the number of papers an author published with Frédéric Tran Mau‐Them. Frédéric Tran Mau‐Them is excluded from the visualization to improve readability, since they are connected to all nodes in the network.

All Works

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20 of 20 papers shown

#	Work	Indexed citations
1	Early prenatal diagnosis of causative homozygous variants in ASCC1 in a fetus with cystic hygroma and additional homozygous variants of unknown significance associated with a neurological phenotype not visible in early gestation: Dual diagnosis or not? 2024 ·Prenatal Diagnosis ·(unknown),Julian Delanne,G. Gorincour,Laurence Faivre,(unknown),Christophe Philippe,Yannis Duffourd,Antonio Vitobello,Thierry Rousseau,(unknown),(unknown),(unknown),Christel Thauvin‐Robinet,Frédéric Tran Mau‐Them	1
2	Heterozygous pathogenic variants in POMC are not responsible for monogenic obesity: Implication for MC4R agonist use 2023 ·Genetics in Medicine ·(unknown),Brigitte Delemer,Christine Poitou,Martine Vaxillaire,(unknown),Aurélie Dechaume,(unknown),Mathilde Boissel,Mehdi Derhourhi,Karine Clément,Jean Petit,Frédéric Tran Mau‐Them,Ange‐Line Bruel,Christel Thauvin‐Robinet,Alexandru Saveanu,(unknown),Johanne Le Beyec,Philippe Froguel,Amélie Bonnefond	10
3	Gain-of-function MYCN causes a megalencephaly-polydactyly syndrome manifesting mirror phenotypes of Feingold syndrome 2023 ·Human Genetics and Genomics Advances ·(unknown),Kohji Kato,Frédéric Tran Mau‐Them,(unknown),Chloé Quēlin,(unknown),Antonio Vitobello,(unknown),Hossam H. Shawki,Hisashi Oishi,Christel Thauvin‐Robinet,Toshiki Takenouchi,Kenjiro Kosaki,Yoshiyuki Takahashi,Shinji Saitoh	2
4	Refining the clinical phenotype associated with missense variants in exons 38 and 39 of KMT2D 2022 ·American Journal of Medical Genetics Part A ·(unknown),Aurore Garde,Sandrine Marlin,(unknown),Sylvain Ernest,Sophie Nambot,Yannis Duffourd,(unknown),C. Duvillard,Siddharth Banka,Christophe Philippe,Christel Thauvin‐Robinet,Frédéric Tran Mau‐Them,Laurence Faivre	3
5	A second look at exome sequencing data: detecting mobile elements insertion in a rare disease cohort 2022 ·European Journal of Human Genetics ·(unknown),Martin Chevarin,Antonio Vitobello,(unknown),Cyril Fournier,Alain Verloès,Émilie Tisserant,P. Vabres,(unknown),Christophe Philippe,Anne‐Sophie Denommé‐Pichon,Ange‐Line Bruel,Frédéric Tran Mau‐Them,(unknown),(unknown),Jean‐Marc Costa,Detlef Trost,Christel Thauvin‐Robinet,Laurence Faivre,Yannis Duffourd	6
6	Exome sequencing allows detection of relevant pharmacogenetic variants in epileptic patients 2022 ·The Pharmacogenomics Journal ·(unknown),Quentin Thomas,(unknown),Céline Verstuyft,Émilie Tisserant,Antonio Vitobello,Frédéric Tran Mau‐Them,Christophe Philippe,Marc Bardou,Maxime Luu,Abderrahmane Bourredjem,Patrick Callier,Christel Thauvin‐Robinet,Nicolas Picard,Laurence Faivre,Yannis Duffourd	1
7	Atypical phenotype of a patient with Bardet–Biedl syndrome type 4 2022 ·Molecular Genetics & Genomic Medicine ·(unknown),Laëtitia Lambert,(unknown),Ange‐Line Bruel,Frédéric Tran Mau‐Them,(unknown),Jean‐Louis Lemelle,Olivier Klein,(unknown),(unknown),(unknown),(unknown),Céline Bonnet,Christophe Philippe,Bruno Leheup	1
8	TRIT1 deficiency: Two novel patients with four novel variants 2022 ·European Journal of Medical Genetics ·Thomas Smol,Perrine Brunelle,Roseline Caumes,Odile Boute‐Bénéjean,C. Thuillier,Martin Figeac,Emilie Ait‐Yahya,(unknown),Frédéric Tran Mau‐Them,Christel Thauvin‐Robinet,Laurence Faivre,Catherine Roche‐Lestienne,Sylvie Manouvrier‐Hanu,Florence Petit,Jamal Ghoumid	2
9	A bi‐allelic loss‐of‐function SARS1 variant in children with neurodevelopmental delay, deafness, cardiomyopathy, and decompensation during fever 2021 ·Human Mutation ·Jean‐Marie Ravel,Natacha Dreumont,(unknown),Desirée E.C. Smith,Marisa I. Mendes,Arnaud Wiedemann,David Coelho,Emmanuelle Schmitt,Jean‐Baptiste Rivière,Frédéric Tran Mau‐Them,Julien Thévenon,Paul Kuentz,Marc Polivka,Sabine A. Fuchs,(unknown),Christel Thauvin‐Robinet,Jean‐Louis Guéant,Gajja S. Salomons,Laurence Faivre,François Feillet	6
10	Interest of exome sequencing trio‐like strategy based on pooled parental DNA for diagnosis and translational research in rare diseases 2021 ·Molecular Genetics & Genomic Medicine ·Frédéric Tran Mau‐Them,Yannis Duffourd,Antonio Vitobello,Ange‐Line Bruel,Anne‐Sophie Denommé‐Pichon,Sophie Nambot,Julian Delanne,Sébastien Moutton,Arthur Sorlin,(unknown),(unknown),(unknown),Martin Chevarin,Charlotte Pöe,Anne‐Laure Mosca‐Boidron,Patrick Callier,(unknown),Laurence Faivre,Christophe Philippe,Christel Thauvin‐Robinet	4
11	Skraban‐Deardorff syndrome: Six new cases of WDR 26 ‐related disease and expansion of the clinical phenotype 2021 ·Clinical Genetics ·(unknown),Élise Schaefer,(unknown),Christèle Dubourg,Wilfrid Carré,(unknown),(unknown),Lionel Van Maldergem,Amélie Piton,Bénédicte Gérard,Frédéric Tran Mau‐Them,Ange‐Line Bruel,Laurence Faivre,Florence Démurger,Laurent Pasquier,Sylvie Odent,Mélanie Fradin,Alinoë Lavillaureix	4
12	Next‐generation sequencing approaches and challenges in the diagnosis of developmental anomalies and intellectual disability 2020 ·Clinical Genetics ·Ange‐Line Bruel,Antonio Vitobello,Frédéric Tran Mau‐Them,Sophie Nambot,Arthur Sorlin,Anne‐Sophie Denommé‐Pichon,Julian Delanne,Sébastien Moutton,Patrick Callier,Yannis Duffourd,Christophe Philippe,Laurence Faivre,Christel Thauvin‐Robinet	11
13	Deciphering exome sequencing data: Bringing mitochondrial DNA variants to light 2019 ·Human Mutation ·(unknown),Céline Bris,Vincent Procaccio,Patrizia Amati‐Bonneau,P. Vabres,Nada Houcinat,Émilie Tisserant,François Feillet,Ange‐Line Bruel,(unknown),Christophe Philippe,Arthur Sorlin,Frédéric Tran Mau‐Them,Antonio Vitobello,Jean‐Marc Costa,(unknown),Detlef Trost,Laurence Faivre,Christel Thauvin‐Robinet,(unknown)	7
14	Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing 2019 ·European Journal of Human Genetics ·Ange‐Line Bruel,Sophie Nambot,(unknown),Antonio Vitobello,Julien Thévenon,Mirna Assoum,Sébastien Moutton,Nada Houcinat,Daphné Lehalle,Nolwenn Jean‐Marçais,(unknown),(unknown),(unknown),(unknown),(unknown),(unknown),(unknown),(unknown),(unknown),(unknown),(unknown),(unknown),(unknown),(unknown),(unknown),(unknown),(unknown),(unknown),(unknown),(unknown),(unknown),(unknown),(unknown),(unknown),(unknown),(unknown),(unknown),(unknown),(unknown),(unknown),(unknown),(unknown),(unknown),(unknown),(unknown),(unknown),(unknown),(unknown),(unknown),(unknown),Martin Chevarin,Thibaud Jouan,Charlotte Pöe,Patrick Callier,(unknown),Christophe Philippe,Frédéric Tran Mau‐Them,Yannis Duffourd,Laurence Faivre,Christel Thauvin‐Robinet	39
15	Variant recurrence in neurodevelopmental disorders: the use of publicly available genomic data identifies clinically relevant pathogenic missense variants 2019 ·Genetics in Medicine ·François Lecoquierre,Yannis Duffourd,Antonio Vitobello,Ange‐Line Bruel,(unknown),Christine Coubes,(unknown),Sophie Nambot,Martin Chevarin,Thibaud Jouan,Sébastien Moutton,Frédéric Tran Mau‐Them,Christophe Philippe,Arthur Sorlin,Laurence Faivre,Christel Thauvin‐Robinet	20
16	LARP7 variants and further delineation of the Alazami syndrome phenotypic spectrum among primordial dwarfisms: 2 sisters 2018 ·European Journal of Medical Genetics ·(unknown),Frédéric Tran Mau‐Them,Julien Thévenon,Thomas Guignard,Vincent Gâtinois,Jean‐Baptiste Rivière,Anne Boland,Vincent Meyer,Jean‐François Deleuze,Elodie Sanchez,Florence Apparailly,David Geneviève,Marjolaine Willems	19
17	A Broad Test Based on Fluorescent-Multiplex PCR for Noninvasive Prenatal Diagnosis of Cystic Fibrosis 2018 ·Fetal Diagnosis and Therapy ·Claire Guissart,Frédéric Tran Mau‐Them,(unknown),(unknown),(unknown),Victoria L. Pritchard,Cécile Rouzier,(unknown),(unknown),Jacques Puechberty,Éric Bieth,Philippe Khau Van Kien,(unknown),Caroline Raynal,Anne Girardet,Mireille Claustres,M. Kœnig,Marie‐Claire Vincent	9
18	Circulating Cell Free Tumor DNA Detection as a Routine Tool forLung Cancer Patient Management 2017 ·International Journal of Molecular Sciences ·Julie A. Vendrell,Frédéric Tran Mau‐Them,(unknown),Sylvain Godreuil,Peter J. Coopman,Jérôme Solassol	77
19	B3GAT3-related disorder with craniosynostosis and bone fragility due to a unique mutation 2017 ·Genetics in Medicine ·Kévin Yauy,Frédéric Tran Mau‐Them,Marjolaine Willems,Christine Coubes,Patricia Blanchet,Christian Herlin,(unknown),Elodie Sanchez,Jean-Michel Faure,(unknown),O. Prodhomme,Anne Boland,Vincent Meyer,Jean‐Baptiste Rivière,Yannis Duffourd,Jean‐François Deleuze,Thomas Guignard,Guillaume Captier,Mouna Barat‐Houari,David Geneviève	21
20	Non-invasive prenatal diagnosis (NIPD) of cystic fibrosis: an optimized protocol using MEMO fluorescent PCR to detect the p.Phe508del mutation 2016 ·Journal of Cystic Fibrosis ·Claire Guissart,(unknown),Caroline Raynal,Anne Girardet,Frédéric Tran Mau‐Them,(unknown),Cécile Rouzier,(unknown),(unknown),Jacques Puechberty,Éric Bieth,(unknown),Philippe Khau Van Kien,(unknown),Victoria L. Pritchard,M. Kœnig,Mireille Claustres,(unknown)	12

About Frédéric Tran Mau‐Them

Frédéric Tran Mau‐Them is a scholar working on Genetics, Aging and Genetics, having authored 30 papers that have together received 397 indexed citations. Recurring topics across this work include Genomics and Rare Diseases (11 papers), Genomic variations and chromosomal abnormalities (6 papers) and Genetics and Neurodevelopmental Disorders (6 papers). The work is most often cited by research in Genetics (167 citations), Cancer Research (84 citations) and Molecular Biology (238 citations). Frédéric Tran Mau‐Them has collaborated with scholars based in France, Germany and United States. Frequent co-authors include Peter J. Coopman, Sylvain Godreuil, Jérôme Solassol, Julie A. Vendrell, Laurence Faivre, Christophe Philippe, Sébastien Moutton, Ange‐Line Bruel, Antonio Vitobello and Marjolaine Willems. Their work appears in journals such as Proceedings of the National Academy of Sciences, The EMBO Journal and International Journal of Molecular Sciences.

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