Julie Gauthier

6.0k citations

38 papers · 1.5k indexed · h-index 19

Genetics top 2%
- Genetics and Neurodevelopmental Disorders 16
- Genomics and Rare Diseases 8
- Genomic variations and chromosomal abnormalities 7
Cognitive Neuroscience top 5%
- Autism Spectrum Disorder Research 7
Developmental Neuroscience top 10%
Cellular and Molecular Neuroscience top 10%
Cell Biology top 10%
- Cellular transport and secretion 3
Molecular Biology
- RNA regulation and disease 5
- RNA and protein synthesis mechanisms 4
Hematology
- Platelet Disorders and Treatments 3

Co-authors: Guy A. Rouleau Laurent Mottron Ridha Joober Fadi F. Hamdan Amélie Piton Jacques L. Michaud Éric Fombonne Sylvia Dobrzeniecka
Cited by: Genetics Cognitive Neuroscience Developmental Neuroscience
Journals: SHILAP Revista de lepidopterología (1 paper)Annals of Neurology (1 paper)Biological Psychiatry (1 paper)
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

The 25 scholars most cited alongside Julie Gauthier, 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 Julie Gauthier Line = papers co-authored together Julie Gauthier links everyone, so they are left out of the graph.

All Works

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20 of 20 papers shown

#	Work
1	A novel FGG missense variant associated with fibrinogen storage disease in a large family from Quebec Haemophilia ·Marie‐Claude Pelland‐Marcotte,Adelina‐Teona Avram,Hélène Néron,Christine Demers,Julie Castilloux,Julie Gauthier,Marguerite Neerman‐Arbez,Alessandro Casini,Georges‐Étienne Rivard	2024	1
2	Picomolar Sensitivity Analysis of Multiple Bradykinin-Related Peptides in the Blood Plasma of Patients With Hereditary Angioedema in Remission: A Pilot Study SHILAP Revista de lepidopterología ·François Marceau,Georges‐Étienne Rivard,Jacques Hébert,Julie Gauthier,Hélène Bachelard,Tanja Gangnus,Bjoern B. Burckhardt	2022	3
3	Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males Human Genetics ·Hans‐Jürgen Kreienkamp,Matias Wagner,Heike Weigand,Allyn McConkie-Rossell,Marie McDonald,Boris Keren,Cyril Mignot,Julie Gauthier,Jean‐François Soucy,Jacques L. Michaud,Meghan Dumas,Rosemarie Smith,Ulrike Löbel,Maja Hempel,Christian Kubisch,Jonas Denecke,Philippe M. Campeau,Jennifer Bain,Davor Lessel	2021	13
4	The challenge of genetically unresolved haemophilia A patients: Interest of the combination of whole F8 gene sequencing and functional assays Haemophilia ·Fanny Lassalle,Yohann Jourdy,Loubna Jouan,Laura L. Swystun,Julie Gauthier,C. Zawadzki,Jenny Goudemand,Sophie Susen,Georges‐Étienne Rivard,David Lillicrap	2020	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 Frontiers in Medicine ·François Marceau,Georges E. Rivard,Julie Gauthier,Karen Binkley,Arnaud Bonnefoy,Isabelle Boccon‐Gibod,Laurence Bouillet,Matthieu Picard,Ghislain Lévesque,Hannah Laure Elfassy,Hélène Bachelard,Jacques Hébert,Konrad Bork	2020	18
6	A variant of neonatal progeroid syndrome, or Wiedemann–Rautenstrauch syndrome, is associated with a nonsense variant in POLR3GL European Journal of Human Genetics ·Éliane Beauregard‐Lacroix,Smrithi Salian,Hyunyun Kim,Sophie Ehresmann,Guylaine D’Amours,Julie Gauthier,Virginie Saillour,Geneviève Bernard,Grant A. Mitchell,Jean‐François Soucy,Jacques L. Michaud,Philippe M. Campeau	2019	18
7	Non-invasive prenatal aneuploidy testing: Critical diagnostic performance parameters predict sample z-score values Clinical Biochemistry ·Jonatan Blais,Sylvie Giroux,André Caron,Valérie Clément,Alexandre Dionne‐Laporte,Loubna Jouan,Julie Gauthier,Tina MacLeod,Richard A. Moore,Jeremy Parker,Lucas Swanson,Yongjun Zhao,Guy A. Rouleau,Aly Karsan,Sylvie Langlois,François Rousseau	2018	7
8	De novo variants in sporadic cases of childhood onset schizophrenia 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	2015	67
9	Investigation of rare variants in LRP1, KPNA1, ALS2CL and ZNF480 genes in schizophrenia patients reflects genetic heterogeneity of the disease 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	2013	16
10	SYN2 is an autism predisposing gene: loss-of-function mutations alter synaptic vesicle cycling and axon outgrowth 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	2013	65
11	De novo mutations in neurological and psychiatric disorders: effects, diagnosis and prevention Genome Medicine ·Julie Gauthier,Guy A. Rouleau	2012	10
12	Rare Variants in Complex Traits: Novel Identification Strategies and the Role of de novo Mutations Human Heredity ·Loubna Jouan,Julie Gauthier,Patrick A. Dion,Guy A. Rouleau	2012	5
13	De Novo SYNGAP1 Mutations in Nonsyndromic Intellectual Disability and Autism 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	2011	130
14	A Population Genetic Approach to Mapping Neurological Disorder Genes Using Deep Resequencing 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,Alexander R. Griffing,Eric A. Stone,Guy A. Rouleau,Philip Awadalla	2011	68
15	De Novo Mutations in FOXP1 in Cases with Intellectual Disability, Autism, and Language Impairment The American Journal of Human Genetics ·Fadi F. Hamdan,Hussein Daoud,Daniel Rochefort,Amélie Piton,Julie Gauthier,Mathieu Langlois,Gila Foomani,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	2010	170
16	De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy 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,Jean Claude Lacaille,Guy A. Rouleau,Jacques L. Michaud	2009	108
17	Novel de novo SHANK3 mutation in autistic patients 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	2008	245
18	Transmission disequilibrium study of an oligodendrocyte and myelin glycoprotein gene allele in 431 families with an autistic proband Neuroscience Research ·Isabelle Martin,Julie Gauthier,Marcello D’Amelio,Sylviane Védrine,Patrick Vourc’h,Guy A. Rouleau,Antonio M. Persico,Christian Andrés	2007	8
19	Capillary electrophoresis separation of a mixture of chitin and chitosan oligosaccharides derivatized using a modified fluorophore conjugation procedure Journal of Separation Science ·Marie‐Eve Beaudoin,Julie Gauthier,Isabelle Boucher,Karen C. Waldron	2005	23
20	Mutation screening of FOXP2 in individuals diagnosed with autistic disorder American Journal of Medical Genetics Part A ·Julie Gauthier,Ridha Joober,Laurent Mottron,Sandra B. Laurent,Marketa Fuchs,Violaine De Kimpe,Guy A. Rouleau	2003	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), Genomic variations and chromosomal abnormalities (7 papers), Autism Spectrum Disorder Research (7 papers), RNA regulation and disease (5 papers), RNA and protein synthesis mechanisms (4 papers), Platelet Disorders and Treatments (3 papers) and Cellular transport and secretion (3 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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