A. T. Pagnamenta

A genome-wide scan for common alleles affecting risk for autism

Richard Anney, Lambertus Klei, Dalila Pinto et al. · Human Molecular Genetics · 2010 · 585 citations · Full text

Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis

H. Christian Martin, Grace Kim, A. T. Pagnamenta et al. · Human Molecular Genetics · 2014 · 255 citations · Full text

Engineering, Genetics, Disease Gene Identification +21

Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase gamma

A. T. Pagnamenta, Jan‐Willem Taanman, Callum Wilson et al. · Human Reproduction · 2006 · 171 citations

Rare familial 16q21 microdeletions under a linkage peak implicate cadherin 8 (<i>CDH8</i>) in susceptibility to autism and learning disability

A. T. Pagnamenta, Susan Walker, Dianne Gerrelli et al. · Journal of Medical Genetics · 2010 · 123 citations · Full text

A<i>de novo</i>frameshift in<i>HNRNPK</i>causing a Kabuki-like syndrome with nodular heterotopia

Leslie A. Lange, A. T. Pagnamenta, Stefano Lise et al. · Clinical Genetics · 2016 · 48 citations · Full text

Engineering, Genetics, Pathology +17