Ange‐Line Bruel

3.8k citations

28 papers · 274 indexed · h-index 11

Co-authors: Laurence Faivre Antonio Vitobello Christophe Philippe Frédéric Tran Mau‐Them Christel Thauvin‐Robinet Julien Thévenon Yannis Duffourd Sébastien Moutton
Topics: Genomics and Rare Diseases (10 papers)Genetics and Neurodevelopmental Disorders (8 papers)Genetic and Kidney Cyst Diseases (7 papers)
Cited by: Genetics Molecular Biology Clinical Biochemistry
Journals: The American Journal of Human Genetics Human Molecular Genetics Experimental Cell Research
Partner nations: France United States Netherlands

In The Last Decade

Ange‐Line Bruel

27 papers receiving 272 citations

Peers

Countries citing papers authored by Ange‐Line Bruel

Since Specialization

Citations

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

Fields of papers citing papers by Ange‐Line Bruel

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Ange‐Line Bruel. 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 Ange‐Line Bruel. The network helps show where Ange‐Line Bruel may publish in the future.

Co-authorship network of co-authors of Ange‐Line Bruel

This figure shows the co-authorship network connecting the top 25 collaborators of Ange‐Line Bruel. A scholar is included among the top collaborators of Ange‐Line Bruel 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 Ange‐Line Bruel. Ange‐Line Bruel 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	Expanding MNS1 Heterotaxy Phenotype 2024 ·American Journal of Medical Genetics Part A ·(unknown),Andrée Delahaye‐Duriez,(unknown),Ange‐Line Bruel,Anne‐Sophie Denommé‐Pichon,(unknown),Christel Thauvin‐Robinet,(unknown),Véronique Satre,(unknown),(unknown),Boris Keren,Laurence Faivre	1
2	Exploring the Cognitive and Behavioral Aspects of Shprintzen‐Goldberg Syndrome; a Novel Cohort and Literature Review 2024 ·Clinical Genetics ·Elisabeth Stoltz Sjöström,Ange‐Line Bruel,Christophe Philippe,Julian Delanne,Laurence Faivre,Leonie A. Menke,Ping Yee Billie Au,(unknown),Shahida Moosa,Allan Bayat	0
3	Patients with complex and very-early-onset ATL1-related spastic paraplegia offer insights on genotype/phenotype correlations and support for autosomal recessive forms of SPG3A 2024 ·Journal of Neurology ·(unknown),(unknown),Pınar Gençpınar,Ange‐Line Bruel,Christophe Philippe,(unknown),(unknown),(unknown),Laëtitia Lambert,Emmanuelle Schmitt,Guillaume Banneau,(unknown),Christel Thauvin‐Robinet,Laurence Faivre,Quentin Thomas	1
4	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
5	Expanding the phenotype of HNRNPU‐related neurodevelopmental disorder with emphasis on seizure phenotype and review of literature 2022 ·American Journal of Medical Genetics Part A ·James R. Taylor,(unknown),(unknown),Antonio Vitobello,Christophe Philippe,Ange‐Line Bruel,Gerarda Cappuccio,Nicola Brunetti‐Pierri,Marjolaine Willems,Bertrand Isidor,Kristen Park,Meena Balasubramanian	12
6	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
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	UQCRC2-related mitochondrial complex III deficiency, about 7 patients 2022 ·Mitochondrion ·(unknown),Pauline Gaignard,Élise Lebigot,Didier Eyer,Geoffroy Delplancq,(unknown),K. Mazodier,(unknown),Cécile Rouzier,Konstantina Fragaki,(unknown),Christophe Philippe,Ange‐Line Bruel,Laurence Faivre,François Feillet,(unknown)	7
9	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
10	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
11	Loss‐of‐function variants in ARHGEF9 are associated with an X‐linked intellectual disability dominant disorder 2021 ·Human Mutation ·(unknown),Thomas Besnard,Mathilde Nizon,(unknown),(unknown),(unknown),Christel Thauvin‐Robinet,Ange‐Line Bruel,Paul Kuentz,Christine Coubes,Laurence Cuisset,Cyril Mignot,Boris Keren,Stéphane Bezieau,Benjamin Cogné	2
12	NovelKIAA1033/WASHC4mutations in three patients with syndromic intellectual disability and a review of the literature 2020 ·American Journal of Medical Genetics Part A ·Mirna Assoum,Ange‐Line Bruel,Melissa Crenshaw,Julian Delanne,Ingrid M. Wentzensen,Kirsty McWalter,Karin M. Dent,Antonio Vitobello,Paul Kuentz,Julien Thévenon,Yannis Duffourd,Christel Thauvin‐Robinet,Laurence Faivre	10
13	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
14	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
15	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
16	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
17	INTU‐related oral‐facial‐digital syndrome type VI: A confirmatory report 2018 ·Clinical Genetics ·Ange‐Line Bruel,Jonathan Lévy,Narcisse Elenga,(unknown),A. Favre,(unknown),Yline Capri,Laurence Perrin,Sandrine Passemard,Yoann Vial,Anne‐Claude Tabet,Laurence Faivre,Christel Thauvin‐Robinet,Alain Verloès	6
18	Truncating variants of the DLG4 gene are responsible for intellectual disability with marfanoid features 2018 ·Clinical Genetics ·Sébastien Moutton,Ange‐Line Bruel,Mirna Assoum,Martin Chevarin,Elisabeth Sarrazin,Cyril Goizet,(unknown),Aude Charollais,Perrine Charles,D. Héron,Anne Faudet,Nada Houcinat,Antonio Vitobello,(unknown),Christophe Philippe,Yannis Duffourd,(unknown),Laurence Faivre	17
19	Clinical delineation of a subtype of frontonasal dysplasia with creased nasal ridge and upper limb anomalies: Report of six unrelated patients 2017 ·American Journal of Medical Genetics Part A ·Daphné Lehalle,Umut Altunoğlu,Ange‐Line Bruel,Éric Arnaud,Patricia Blanchet,(unknown),Julie Désir,Esra KAYA KILIÇ,Damien Lederer,Lucile Pinson,Christel Thauvin‐Robinet,Amihood Singer,Julien Thévenon,Patrick Callier,Hülya Kayserili,Laurence Faivre	5
20	OFIP/KIAA0753 forms a complex with OFD1 and FOR20 at pericentriolar satellites and centrosomes and is mutated in one individual with oral-facial-digital syndrome 2015 ·Human Molecular Genetics ·Véronique Chevrier,Ange‐Line Bruel,Teunis J. P. van Dam,Brunella Franco,(unknown),Frédérique Lembo,Stéphane Audebert,Émilie Baudelet,Daniel Isnardon,(unknown),Jean‐Paul Borg,Paul Kuentz,Julien Thévenon,Lydie Bürglen,Laurence Faivre,Jean‐Baptiste Rivière,Martijn A. Huynen,Daniel Birnbaum,Olivier Rosnet,Christel Thauvin‐Robinet	35

About Ange‐Line Bruel

Ange‐Line Bruel is a scholar working on Developmental Biology, Genetics and Clinical Biochemistry, having authored 28 papers that have together received 274 indexed citations. Recurring topics across this work include Genomics and Rare Diseases (10 papers), Genetics and Neurodevelopmental Disorders (8 papers) and Genetic and Kidney Cyst Diseases (7 papers). The work is most often cited by research in Genetics (187 citations), Molecular Biology (177 citations) and Clinical Biochemistry (13 citations). Ange‐Line Bruel has collaborated with scholars based in France, United States and Netherlands. Frequent co-authors include Laurence Faivre, Antonio Vitobello, Christophe Philippe, Frédéric Tran Mau‐Them, Christel Thauvin‐Robinet, Julien Thévenon, Yannis Duffourd, Sébastien Moutton, Paul Kuentz and Brunella Franco. Their work appears in journals such as The American Journal of Human Genetics, Human Molecular Genetics and Experimental Cell Research.

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