Catherine Paschal (Cate R Paschal)

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 6

Top Topics

Intellectual Disability

Dna Methylation

Bioinformatics Analysis

Ejection Fraction

Top Venues

European journal of human genetics : EJHG

American journal of medical genetics. Part A

This page only lists publications with an associated author ORCID identifier.

Publications

Laura M Watts, Marta Bertoli, Tania Attie-Bitach, Natalie Roux, Antonio Rausell, Catherine Paschal, Jessica L Zambonin, Cynthia J Curry, Blanche Martin, Rebecca S Tooze, Lara Hawkes, Usha Kini, Stephen R F Twigg, Andrew O M Wilkie
The phenotype of MEGF8-related Carpenter syndrome (CRPT2) is refined through the identification of eight new patients. European journal of human genetics : EJHG 32 (7) (2024)
Laura M Watts, Marta Bertoli, Tania Attie-Bitach, Natalie Roux, Antonio Rausell, Catherine Paschal, Jessica L Zambonin, Cynthia J Curry, Blanche Martin, Rebecca S Tooze, Lara Hawkes, Usha Kini, Stephen R F Twigg, Andrew O M Wilkie
The phenotype of MEGF8-related Carpenter syndrome (CRPT2) is refined through the identification of eight new patients. European journal of human genetics : EJHG (2024)
Laura M Watts, Marta Bertoli, Tania Attie-Bitach, Natalie Roux, Antonio Rausell, Catherine Paschal, Jessica L Zambonin, Cynthia J Curry, Blanche Martin, Rebecca S Tooze, Lara Hawkes, Usha Kini, Stephen R F Twigg, Andrew O M Wilkie
The phenotype of MEGF8-related Carpenter syndrome (CRPT2) is refined through the identification of eight new patients. European journal of human genetics : EJHG 32 (7) (2024)
Laura M Watts, Marta Bertoli, Tania Attie-Bitach, Natalie Roux, Antonio Rausell, Catherine Paschal, Jessica L Zambonin, Cynthia J Curry, Blanche Martin, Rebecca S Tooze, Lara Hawkes, Usha Kini, Stephen R F Twigg, Andrew O M Wilkie
The phenotype of MEGF8-related Carpenter syndrome (CRPT2) is refined through the identification of eight new patients. European journal of human genetics : EJHG 32 (7) (2024)
Laura M Watts, Marta Bertoli, Tania Attie-Bitach, Natalie Roux, Antonio Rausell, Catherine Paschal, Jessica L Zambonin, Cynthia J Curry, Blanche Martin, Rebecca S Tooze, Lara Hawkes, Usha Kini, Stephen R F Twigg, Andrew O M Wilkie
The phenotype of MEGF8-related Carpenter syndrome (CRPT2) is refined through the identification of eight new patients. European journal of human genetics : EJHG 32 (7) (2024)
Andrew M Piacitelli, Dana M Jensen, Heather Brandling-Bennett, Megan Mariner Gray, Maneesh Batra, Juliane Gust, Ameet I Thaker, Catherine Paschal, Karen D Tsuchiya, Colin C Pritchard, Jonathan Perkins, Ghayda M Mirzaa, James T Bennett
Characterization of a severe case of PIK3CA-related overgrowth at autopsy by droplet digital polymerase chain reaction and report of PIK3CA sequencing in 22 patients. American journal of medical genetics. Part A 176 (11) (2018)