Mary Ella Pierpont
5PUBLICATIONS
17CO-AUTHORS
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Publications (5)
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|Oct 01, 2019
Emotional functioning among children with neurofibromatosis type 1 or Noonan syndrome.Alana M McNeill, Rebekah L Hudock, Allison M H Foy
|Jun 27, 2019
CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum.Enrico D H Konrad, Niels Nardini, Almuth Caliebe
|Jun 17, 2018
Mosaicism of the UDP-Galactose transporter SLC35A2 in a female causing a congenital disorder of glycosylation: a case report.Kristen Westenfield, Kyriakie Sarafoglou, Laura C Speltz
|May 10, 2018
Restrictive cardiomyopathy: an unusual phenotype of a lamin A variant.Mark S Paller, Cindy M Martin, Mary Ella Pierpont
|Mar 25, 2017
Retinal dystrophy in two boys with Costello syndrome due to the HRAS p.Gly13Cys mutation.Mary Ella Pierpont, Mary Richards, W Keith Engel
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Frequent Collaborators
1 joint publications
Dana Young
1 joint publications
Katrin Õunap
1 joint publications
Sander Pajusalu
1 joint publications
Monica H Wojcik
1 joint publications
Siren Berland
1 joint publications
Evelien Zonneveld-Huijssoon
1 joint publications
Simone Kersten
1 joint publications
Aditi Gupta
1 joint publications
Patrick R Blackburn
1 joint publications
Marissa S Ellingson
