Paige M. Siper

Identifying Phelan-McDermid-Like Electrophysiological Subtypes in Autism Using EEG and Machine Learning

The paper uses EEG and machine learning to identify electrophysiological subtypes in autism, finding a PMS-like subgroup in idiopathic ASD with reduced gamma-band phase-locking.

Deleterious coding variation associated with autism is consistent across populations, as exemplified by admixed Latin American populations

This paper identifies 35 genome-wide significant ASD risk genes in admixed Latin American populations, showing consistency with European cohorts and supporting the universality of ASD biology.

Gaps in the phenotype descriptions of ultra-rare genetic conditions: review and multi-center consensus reporting guidelines

The paper reviews phenotype reporting in genetic disorders and proposes guidelines to improve clinical relevance.

Prospective phenotyping of CHAMP1 disorder indicates that coding mutations do not act through haploinsufficiency

The paper compares clinical phenotypes of CHAMP1 mutations and deletions, finding mutations cause more severe symptoms through dominant negative or gain of function mechanisms, while deletions act via haploinsufficiency.

Large deletions perturb peripheral transcriptomic and metabolomic profiles in Phelan-McDermid syndrome

This study identifies molecular differences between PMS patients with small and large deletions, showing reduced cytotoxic cell signatures and sphingolipid metabolism in large deletions.

Episignatures stratifying ADNP syndrome show modest correlation with phenotype

The paper identifies two methylation-based episignatures in ADNP syndrome but finds limited correlation with clinical phenotypes.