P
Pascale Richard Data-verified
Affiliation confirmed via AI analysis of OpenAlex, ORCID, and web sources.
High Impact
Head
faculty
57 h-index
365 pubs
12,033 cited
Research Areas
Links
Biography and Research Information
OverviewAI-generated summary
Pascale Richard leads a research group at the University of Arkansas at Little Rock, focusing on the genetic underpinnings of various human diseases. Her work investigates the complex relationships between genetic mutations and clinical phenotypes, particularly in cardiovascular conditions and rare genetic syndromes.
Recent publications by Richard and her collaborators explore shared genetic pathways contributing to hypertrophic and dilated cardiomyopathies, the clinical features and long-term prognosis of congenital myasthenic syndromes in adults, and the phenotype-genotype correlations in left ventricular noncompaction. Her research also addresses the prevalence and phenotypes associated with specific gene variants, such as in Dunnigan lipodystrophy syndrome and hypertrophic cardiomyopathy related to ALPK3 null variants. She has co-authored studies on risk models for arrhythmias in non-ischemic dilated cardiomyopathy and the impact of LMNA variant locations on cardiomyopathy outcomes.
With an h-index of 57 and over 11,000 citations across 367 publications, Richard is recognized as a highly cited researcher. Key collaborators include Philip H. Williams and William H. Baltosser from the University of Arkansas at Little Rock.
Metrics
- h-index: 57
- Publications: 365
- Citations: 12,033
Selected Publications
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Phylogenetic analysis of microbial CP-lyase cluster genes for bioremediation of phosphonate (2025)
Collaboration Network
Top Collaborators
Flavie Ader
Sorbonne Université (FR)
27 shared publications
- Phenotype/Genotype Relationship in Left Ventricular Noncompaction: Ion Channel Gene Mutations Are Associated With Preserved Left Ventricular Systolic Function and Biventricular Noncompaction
- Prevalence and phenotypes associated with <i>ALPK3</i> null variants in a large French multicentric cohort: Confirming its involvement in hypertrophic cardiomyopathy
- NEXN Gene in Cardiomyopathies and Sudden Cardiac Deaths: Prevalence, Phenotypic Expression, and Prognosis
- Systematic analysis of SCN5A variants associated with inherited cardiac diseases
- Generation of CRISPR-Cas9 edited human induced pluripotent stem cell line carrying FLNC exon skipping variant
Showing 5 of 27 shared publications
Philippe Charron
Inserm (FR)
18 shared publications
- Phenotype/Genotype Relationship in Left Ventricular Noncompaction: Ion Channel Gene Mutations Are Associated With Preserved Left Ventricular Systolic Function and Biventricular Noncompaction
- Prevalence and phenotypes associated with <i>ALPK3</i> null variants in a large French multicentric cohort: Confirming its involvement in hypertrophic cardiomyopathy
- Location of <i>LMNA</i> Variants and Clinical Outcomes in Cardiomyopathy
- Prognosis of Adults With Isolated Left Ventricular Non-Compaction: Results of a Prospective Multicentric Study
- Clinical impact of genetic testing in a large cohort of pediatric cardiomyopathies
Showing 5 of 18 shared publications
Corinne Métay
9 shared publications
- An Integrated Clinical-Biological Approach to Identify Interindividual Variability and Atypical Phenotype-Genotype Correlations in Myopathies: Experience on A Cohort of 156 Families
- Long-Reads Sequencing Strategy to Localize Variants in TTN Repeated Domains
- <i>MYH7</i>-related myopathies: clinical, myopathological and genotypic spectrum in a multicentre French cohort
- Novel dominant distal titinopathy phenotype associated with copy number variation
- COLLAGEN RELATED MUSCLE DISEASES
Showing 5 of 9 shared publications
Eric Villard
Inserm (FR)
8 shared publications
- A novel risk model for predicting potentially life-threatening arrhythmias in non-ischemic dilated cardiomyopathy (DCM-SVA risk)
- Generation of CRISPR-Cas9 edited human induced pluripotent stem cell line carrying FLNC exon skipping variant
- <i>Drosophila</i> CRISPR/Cas9 mutants as tools to analyse cardiac filamin function and pathogenicity of human FLNC variants
- <scp>DNA</scp> ‐pools targeted‐sequencing as a robust cost‐effective method to detect rare variants: Application to dilated cardiomyopathy genetic diagnosis
- Function alteration of engineered heart tissues carrying a shorter filamin C protein induced by CRISPR/Cas9
Showing 5 of 8 shared publications
Laurence Faivre
CHU Dijon Bourgogne (FR)
7 shared publications
- Phenotype/Genotype Relationship in Left Ventricular Noncompaction: Ion Channel Gene Mutations Are Associated With Preserved Left Ventricular Systolic Function and Biventricular Noncompaction
- NEXN Gene in Cardiomyopathies and Sudden Cardiac Deaths: Prevalence, Phenotypic Expression, and Prognosis
- Prognosis of Adults With Isolated Left Ventricular Non-Compaction: Results of a Prospective Multicentric Study
- <i>RBM20</i> Gene in Patients With Cardiomyopathy: Phenotypic Expression for Loss-of-Function Versus Hotspot Variants
- MYH7 p.(Arg1712Gln) is pathogenic founder variant causing hypertrophic cardiomyopathy with overall relatively delayed onset
Showing 5 of 7 shared publications
Ana Ferreiro
Centre National de la Recherche Scientifique (FR)
6 shared publications
- Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosis
- Clinical and Molecular Spectrum Associated with <i>COL6A3</i> c.7447A>G p.(Lys2483Glu) Variant: Elucidating its Role in Collagen VI-related Myopathies
- Long-Reads Sequencing Strategy to Localize Variants in TTN Repeated Domains
- Abnormal Cellular Phenotypes Induced by Three TMPO/LAP2 Variants Identified in Men with Cardiomyopathies
- COLLAGEN RELATED MUSCLE DISEASES
Showing 5 of 6 shared publications
Guillaume Jedraszak
Centre Hospitalier Universitaire Amiens-Picardie (FR)
6 shared publications
- Prevalence and phenotypes associated with <i>ALPK3</i> null variants in a large French multicentric cohort: Confirming its involvement in hypertrophic cardiomyopathy
- NEXN Gene in Cardiomyopathies and Sudden Cardiac Deaths: Prevalence, Phenotypic Expression, and Prognosis
- Systematic analysis of SCN5A variants associated with inherited cardiac diseases
- <i>RBM20</i> Gene in Patients With Cardiomyopathy: Phenotypic Expression for Loss-of-Function Versus Hotspot Variants
- Prevalence and Significance of Rare Genetic Variants in <i>AKAP9</i> in Inherited Cardiac Diseases
Showing 5 of 6 shared publications
Erwan Donal
5 shared publications
- Phenotype/Genotype Relationship in Left Ventricular Noncompaction: Ion Channel Gene Mutations Are Associated With Preserved Left Ventricular Systolic Function and Biventricular Noncompaction
- <i>RBM20</i> Gene in Patients With Cardiomyopathy: Phenotypic Expression for Loss-of-Function Versus Hotspot Variants
- Exploring the Familial Phenotypic Variability Associated With <scp>TTN</scp> Truncating Variants in Cardiomyopathies: Variant Spectrum, Genotype–Phenotype Correlation and Consequences in Genetic Counseling
- The impact of the Next Generation Sequencing strategy in the diagnosis of two rare causes of hypertrophic cardiomyopathy: Fabry disease and hereditary transthyretin amyloidosis (ATTR)
- Author response for "Exploring the Familial Phenotypic Variability Associated With <scp>TTN</scp> Truncating Variants in Cardiomyopathies: Variant Spectrum, Genotype–Phenotype Correlation and Consequences in Genetic Counseling"
Pascal de Groote
5 shared publications
- NEXN Gene in Cardiomyopathies and Sudden Cardiac Deaths: Prevalence, Phenotypic Expression, and Prognosis
- <i>RBM20</i> Gene in Patients With Cardiomyopathy: Phenotypic Expression for Loss-of-Function Versus Hotspot Variants
- Exploring the Familial Phenotypic Variability Associated With <scp>TTN</scp> Truncating Variants in Cardiomyopathies: Variant Spectrum, Genotype–Phenotype Correlation and Consequences in Genetic Counseling
- The impact of the Next Generation Sequencing strategy in the diagnosis of two rare causes of hypertrophic cardiomyopathy: Fabry disease and hereditary transthyretin amyloidosis (ATTR)
- Author response for "Exploring the Familial Phenotypic Variability Associated With <scp>TTN</scp> Truncating Variants in Cardiomyopathies: Variant Spectrum, Genotype–Phenotype Correlation and Consequences in Genetic Counseling"
Anne‐Claire Bréhin
5 shared publications
- <i>RBM20</i> Gene in Patients With Cardiomyopathy: Phenotypic Expression for Loss-of-Function Versus Hotspot Variants
- Exploring the Familial Phenotypic Variability Associated With <scp>TTN</scp> Truncating Variants in Cardiomyopathies: Variant Spectrum, Genotype–Phenotype Correlation and Consequences in Genetic Counseling
- The impact of the Next Generation Sequencing strategy in the diagnosis of two rare causes of hypertrophic cardiomyopathy: Fabry disease and hereditary transthyretin amyloidosis (ATTR)
- Prevalence and Significance of Rare Genetic Variants in <i>AKAP9</i> in Inherited Cardiac Diseases
- Author response for "Exploring the Familial Phenotypic Variability Associated With <scp>TTN</scp> Truncating Variants in Cardiomyopathies: Variant Spectrum, Genotype–Phenotype Correlation and Consequences in Genetic Counseling"
Adrien Bloch
Pitié-Salpêtrière Hospital (FR)
5 shared publications
- Prevalence and phenotypes associated with <i>ALPK3</i> null variants in a large French multicentric cohort: Confirming its involvement in hypertrophic cardiomyopathy
- Systematic analysis of SCN5A variants associated with inherited cardiac diseases
- Clinical impact of genetic testing in a large cohort of pediatric cardiomyopathies
- Usefulness of combined sequencing of the mitochondrial genome and a targeted panel of nuclear genes involved in mitochondrial diseases
- Author response for "Prevalence and phenotypes associated with <i>ALPK3</i> null variants in a large French multicentric cohort: Confirming its involvement in hypertrophic cardiomyopathy"
Karine Nguyen
Génétique Médicale & Génomique Fonctionelle (FR)
5 shared publications
- Phenotype/Genotype Relationship in Left Ventricular Noncompaction: Ion Channel Gene Mutations Are Associated With Preserved Left Ventricular Systolic Function and Biventricular Noncompaction
- NEXN Gene in Cardiomyopathies and Sudden Cardiac Deaths: Prevalence, Phenotypic Expression, and Prognosis
- Prognosis of Adults With Isolated Left Ventricular Non-Compaction: Results of a Prospective Multicentric Study
- <i>RBM20</i> Gene in Patients With Cardiomyopathy: Phenotypic Expression for Loss-of-Function Versus Hotspot Variants
- MYH7 p.(Arg1712Gln) is pathogenic founder variant causing hypertrophic cardiomyopathy with overall relatively delayed onset
C. Thèze
Inserm (FR)
5 shared publications
- An Integrated Clinical-Biological Approach to Identify Interindividual Variability and Atypical Phenotype-Genotype Correlations in Myopathies: Experience on A Cohort of 156 Families
- Long-Reads Sequencing Strategy to Localize Variants in TTN Repeated Domains
- Novel dominant distal titinopathy phenotype associated with copy number variation
- Analyses fonctionnelles et études de corrélation phénotype-génotype chez des patients suspects de titinopathie
- 2024 update of the National French consensus on gene lists for the diagnosis of muscle diseases using high-throughput sequencing
Caroline Rooryck
5 shared publications
- Abnormal Cellular Phenotypes Induced by Three TMPO/LAP2 Variants Identified in Men with Cardiomyopathies
- Morphological and genetic causes of fetal cardiomyopathies
- Clinical impact of genetic testing in a large cohort of pediatric cardiomyopathies
- Exploring the Familial Phenotypic Variability Associated With <scp>TTN</scp> Truncating Variants in Cardiomyopathies: Variant Spectrum, Genotype–Phenotype Correlation and Consequences in Genetic Counseling
- Author response for "Exploring the Familial Phenotypic Variability Associated With <scp>TTN</scp> Truncating Variants in Cardiomyopathies: Variant Spectrum, Genotype–Phenotype Correlation and Consequences in Genetic Counseling"
Gilles Millat
Laboratoire de Biologie et Modélisation de la Cellule (FR)
5 shared publications
- Prevalence and phenotypes associated with <i>ALPK3</i> null variants in a large French multicentric cohort: Confirming its involvement in hypertrophic cardiomyopathy
- NEXN Gene in Cardiomyopathies and Sudden Cardiac Deaths: Prevalence, Phenotypic Expression, and Prognosis
- <i>RBM20</i> Gene in Patients With Cardiomyopathy: Phenotypic Expression for Loss-of-Function Versus Hotspot Variants
- MYH7 p.(Arg1712Gln) is pathogenic founder variant causing hypertrophic cardiomyopathy with overall relatively delayed onset
- Author response for "Prevalence and phenotypes associated with <i>ALPK3</i> null variants in a large French multicentric cohort: Confirming its involvement in hypertrophic cardiomyopathy"
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