Search filters

Authors whose works are in public domain in at least one jurisdiction

List of works by Nicholas Stong

A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay

scientific article published on 25 January 2017

A resource of lipidomics and metabolomics data from individuals with undiagnosed diseases

scientific article published on 21 April 2021

Autism and developmental disability caused by KCNQ3 gain-of-function variants

scientific article published on 26 June 2019

De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay

scientific article published on 30 November 2018

Further evidence for the involvement of in a Shwachman-Diamond-like syndrome and expansion of the phenotypic features

article published in 2018

Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability

scientific article published on 05 October 2018

Integrative multi-omics identifies high risk multiple myeloma subgroup associated with significant DNA loss and dysregulated DNA repair and cell cycle pathways

scientific article published on 18 December 2021

Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases

scientific article published on 14 September 2017

Paulina is supported by:

About Paulina

Help