Julie Gauthier

6.0k citations

38 papers · 1.5k indexed · h-index 19

Genetics top 2%
Molecular Biology top 10%
Cognitive Neuroscience top 5%
Cellular and Molecular Neuroscience top 10%
Cell Biology top 10%

Co-authors: Guy A. Rouleau Laurent Mottron Ridha Joober Fadi F. Hamdan Amélie Piton Jacques L. Michaud Éric Fombonne Sylvia Dobrzeniecka
Topics: Genetics and Neurodevelopmental Disorders (16 papers)Genomics and Rare Diseases (8 papers)Genomic variations and chromosomal abnormalities (7 papers)
Cited by: Genetics Cognitive Neuroscience Developmental Neuroscience
Journals: SHILAP Revista de lepidopterologíaAnnals of Neurology Biological Psychiatry
Partner nations: Canada United States France

In The Last Decade

Julie Gauthier

38 papers receiving 1.4k citations

Peers

Countries citing papers authored by Julie Gauthier

Since Specialization

Citations

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

Fields of papers citing papers by Julie Gauthier

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Julie Gauthier. 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 Julie Gauthier. The network helps show where Julie Gauthier may publish in the future.

Co-authorship network of co-authors of Julie Gauthier

This figure shows the co-authorship network connecting the top 25 collaborators of Julie Gauthier. A scholar is included among the top collaborators of Julie Gauthier 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 Julie Gauthier. Julie Gauthier 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	A novel FGG missense variant associated with fibrinogen storage disease in a large family from Quebec 2024 ·Haemophilia ·Marie‐Claude Pelland‐Marcotte,(unknown),(unknown),Christine Demers,Julie Castilloux,Julie Gauthier,Marguerite Neerman‐Arbez,Alessandro Casini,Georges‐Étienne Rivard	1
2	Picomolar Sensitivity Analysis of Multiple Bradykinin-Related Peptides in the Blood Plasma of Patients With Hereditary Angioedema in Remission: A Pilot Study 2022 ·SHILAP Revista de lepidopterología ·François Marceau,Georges‐Étienne Rivard,Jacques Hébert,Julie Gauthier,Hélène Bachelard,(unknown),Bjoern B. Burckhardt	3
3	Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males 2021 ·Human Genetics ·Hans‐Jürgen Kreienkamp,Matias Wagner,Heike Weigand,(unknown),Marie McDonald,Boris Keren,Cyril Mignot,Julie Gauthier,(unknown),Jacques L. Michaud,(unknown),Rosemarie Smith,Ulrike Löbel,Maja Hempel,Christian Kubisch,Jonas Denecke,Philippe M. Campeau,Jennifer Bain,Davor Lessel	13
4	The challenge of genetically unresolved haemophilia A patients: Interest of the combination of whole F8 gene sequencing and functional assays 2020 ·Haemophilia ·Fanny Lassalle,(unknown),Loubna Jouan,Laura L. Swystun,Julie Gauthier,C. Zawadzki,Jenny Goudemand,Sophie Susen,Georges‐Étienne Rivard,David Lillicrap	11
5	Measurement of Bradykinin Formation and Degradation in Blood Plasma: Relevance for Acquired Angioedema Associated With Angiotensin Converting Enzyme Inhibition and for Hereditary Angioedema Due to Factor XII or Plasminogen Gene Variants 2020 ·Frontiers in Medicine ·François Marceau,Georges E. Rivard,Julie Gauthier,Karen Binkley,Arnaud Bonnefoy,Isabelle Boccon‐Gibod,Laurence Bouillet,Matthieu Picard,(unknown),(unknown),Hélène Bachelard,Jacques Hébert,Konrad Bork	18
6	A variant of neonatal progeroid syndrome, or Wiedemann–Rautenstrauch syndrome, is associated with a nonsense variant in POLR3GL 2019 ·European Journal of Human Genetics ·(unknown),(unknown),(unknown),Sophie Ehresmann,(unknown),Julie Gauthier,Virginie Saillour,Geneviève Bernard,Grant A. Mitchell,(unknown),Jacques L. Michaud,Philippe M. Campeau	18
7	Non-invasive prenatal aneuploidy testing: Critical diagnostic performance parameters predict sample z-score values 2018 ·Clinical Biochemistry ·Jonatan Blais,Sylvie Giroux,(unknown),(unknown),Alexandre Dionne‐Laporte,Loubna Jouan,Julie Gauthier,(unknown),Richard A. Moore,Jeremy Parker,(unknown),Yongjun Zhao,Guy A. Rouleau,Aly Karsan,Sylvie Langlois,François Rousseau	7
8	De novo variants in sporadic cases of childhood onset schizophrenia 2015 ·European Journal of Human Genetics ·Amirthagowri Ambalavanan,Simon Girard,Kwangmi Ahn,Sirui Zhou,Alexandre Dionne‐Laporte,Dan Spiegelman,Cynthia V. Bourassa,Julie Gauthier,Fadi F. Hamdan,Lan Xiong,Patrick A. Dion,Ridha Joober,Judith L. Rapoport,Guy A. Rouleau	67
9	Investigation of rare variants in LRP1, KPNA1, ALS2CL and ZNF480 genes in schizophrenia patients reflects genetic heterogeneity of the disease 2013 ·Behavioral and Brain Functions ·Loubna Jouan,Simon Girard,Sylvia Dobrzeniecka,Amirthagowri Ambalavanan,Marie‐Odile Krebs,Ridha Joober,Julie Gauthier,Patrick A. Dion,Guy A. Rouleau	16
10	SYN2 is an autism predisposing gene: loss-of-function mutations alter synaptic vesicle cycling and axon outgrowth 2013 ·Human Molecular Genetics ·Anna Corradi,Manuela Fadda,Amélie Piton,Lysanne Patry,Antonella Marte,Pia Rossi,Maxime Cadieux‐Dion,Julie Gauthier,Line Lapointe,Laurent Mottron,Flavia Valtorta,Guy A. Rouleau,Anna Fassio,Fabio Benfenati,Patrick Cossette	65
11	De novo mutations in neurological and psychiatric disorders: effects, diagnosis and prevention 2012 ·Genome Medicine ·Julie Gauthier,Guy A. Rouleau	10
12	Rare Variants in Complex Traits: Novel Identification Strategies and the Role of de novo Mutations 2012 ·Human Heredity ·Loubna Jouan,Julie Gauthier,Patrick A. Dion,Guy A. Rouleau	5
13	De Novo SYNGAP1 Mutations in Nonsyndromic Intellectual Disability and Autism 2011 ·Biological Psychiatry ·Fadi F. Hamdan,Hussein Daoud,Amélie Piton,Julie Gauthier,Sylvia Dobrzeniecka,Marie‐Odile Krebs,Ridha Joober,Jean‐Claude Lacaille,Amélie Nadeau,Jeff M. Milunsky,Zhenyuan Wang,Lionel Carmant,Laurent Mottron,Miriam H. Beauchamp,Guy A. Rouleau,Jacques L. Michaud	130
14	A Population Genetic Approach to Mapping Neurological Disorder Genes Using Deep Resequencing 2011 ·PLoS Genetics ·Rachel A. Myers,Ferrán Casals,Julie Gauthier,Fadi F. Hamdan,Jon Keebler,Adam R. Boyko,Carlos D. Bustamante,Amélie Piton,Dan Spiegelman,Édouard Henrion,Martine Zilversmit,Julie Hussin,Jacklyn Quinlan,Yanlian Yang,Ronald G. Lafrenière,(unknown),Eric A. Stone,Guy A. Rouleau,Philip Awadalla	68
15	De Novo Mutations in FOXP1 in Cases with Intellectual Disability, Autism, and Language Impairment 2010 ·The American Journal of Human Genetics ·Fadi F. Hamdan,Hussein Daoud,Daniel Rochefort,Amélie Piton,Julie Gauthier,(unknown),(unknown),Sylvia Dobrzeniecka,Marie‐Odile Krebs,Ridha Joober,Ronald G. Lafrenière,Jean‐Claude Lacaille,Laurent Mottron,Pierre Drapeau,Miriam H. Beauchamp,Michael Phillips,Éric Fombonne,Guy A. Rouleau,Jacques L. Michaud	170
16	De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy 2009 ·Annals of Neurology ·Fadi F. Hamdan,Amélie Piton,Julie Gauthier,Anne Lortie,François Dubeau,Sylvia Dobrzeniecka,Dan Spiegelman,Anne Noreau,Stéphanie Pellerin,Mélanie Côté,Édouard Henrion,Éric Fombonne,Laurent Mottron,Claude Marineau,Pierre Drapeau,Ronald G. Lafrenière,(unknown),Guy A. Rouleau,Jacques L. Michaud	108
17	Novel de novo SHANK3 mutation in autistic patients 2008 ·American Journal of Medical Genetics Part B Neuropsychiatric Genetics ·Julie Gauthier,Dan Spiegelman,Amélie Piton,Ronald G. Lafrenière,Sandra B. Laurent,Judith St‐Onge,Line Lapointe,Fadi F. Hamdan,Patrick Cossette,Laurent Mottron,Éric Fombonne,Ridha Joober,Claude Marineau,Pierre Drapeau,Guy A. Rouleau	245
18	Transmission disequilibrium study of an oligodendrocyte and myelin glycoprotein gene allele in 431 families with an autistic proband 2007 ·Neuroscience Research ·Isabelle Martin,Julie Gauthier,Marcello D’Amelio,(unknown),Patrick Vourc’h,Guy A. Rouleau,Antonio M. Persico,Christian Andrés	8
19	Capillary electrophoresis separation of a mixture of chitin and chitosan oligosaccharides derivatized using a modified fluorophore conjugation procedure 2005 ·Journal of Separation Science ·(unknown),Julie Gauthier,Isabelle Boucher,Karen C. Waldron	23
20	Mutation screening of FOXP2 in individuals diagnosed with autistic disorder 2003 ·American Journal of Medical Genetics Part A ·Julie Gauthier,Ridha Joober,Laurent Mottron,Sandra B. Laurent,(unknown),(unknown),Guy A. Rouleau	42

About Julie Gauthier

Julie Gauthier is a scholar working on Genetics, Hematology and Cognitive Neuroscience, having authored 38 papers that have together received 1.5k indexed citations. Recurring topics across this work include Genetics and Neurodevelopmental Disorders (16 papers), Genomics and Rare Diseases (8 papers) and Genomic variations and chromosomal abnormalities (7 papers). The work is most often cited by research in Genetics (847 citations), Cognitive Neuroscience (484 citations) and Developmental Neuroscience (62 citations). Julie Gauthier has collaborated with scholars based in Canada, United States and France. Frequent co-authors include Guy A. Rouleau, Laurent Mottron, Ridha Joober, Fadi F. Hamdan, Amélie Piton, Jacques L. Michaud, Éric Fombonne, Sylvia Dobrzeniecka, Ronald G. Lafrenière and Sandra B. Laurent. Their work appears in journals such as SHILAP Revista de lepidopterología, Annals of Neurology and Biological Psychiatry.

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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