Heather L. Pond

POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations

Stefania Di Costanzo, Anuradha Balasubramanian, Heather L. Pond et al. · Human Molecular Genetics · 2014 · 85 citations · Full text

Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy

Daniel P. S. Osborn, Heather L. Pond, Neda Mazaheri et al. · The American Journal of Human Genetics · 2017 · 66 citations · Full text

Inpp5k Cause, Rare Diseases, Mendelian Disorder +7

Cc2d1a Loss of Function Disrupts Functional and Morphological Development in Forebrain Neurons Leading to Cognitive and Social Deficits

Adam W. Oaks, Marta Zamarbide, Dimira Tambunan et al. · Cerebral Cortex · 2016 · 48 citations · Full text

Developmental Cognitive Neuroscience, Brain Development, Cc2d1a Loss +22

Structure of the polyisoprenyl-phosphate glycosyltransferase GtrB and insights into the mechanism of catalysis

Chiara Ardiccioni, Oliver B. Clarke, David Tomasek et al. · Nature Communications · 2016 · 47 citations · Full text

Male-Specific cAMP Signaling in the Hippocampus Controls Spatial Memory Deficits in a Mouse Model of Autism and Intellectual Disability

Marta Zamarbide, Adele Mossa, Pablo Muñoz-LLancao et al. · Biological Psychiatry · 2018 · 42 citations · Full text

Cognitive Science, Developmental Biology, Brain Function +9