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List of works by Erica E Davis

A novel ribosomopathy caused by dysfunction of RPL10 disrupts neurodevelopment and causes X-linked microcephaly in humans

scientific article

A recessive variant in TFAM causes mtDNA depletion associated with primary ovarian insufficiency, seizures, intellectual disability and hearing loss

scientific article published in 2021

Acoustofluidic rotational tweezing enables high-speed contactless morphological phenotyping of zebrafish larvae

scientific article published on 18 February 2021

An essential role for DYF-11/MIP-T3 in assembling functional intraflagellar transport complexes

scientific article

CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module

scientific article published on 02 November 2020

CSGALNACT1-congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone age

scientific article published on 03 December 2019

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

scientific article published on 01 March 2019

Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathy

scientific article published on 12 October 2020

Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome

scientific article

Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy

scientific article published on 23 July 2020

Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome

scientific article

Participant-Partners in Genetic Research: An Exome Study with Families of Children with Unexplained Medical Conditions

scientific article published on 30 January 2018

Participant-Partners in Genetic Research: An Exome Study with Families of Children with Unexplained Medical Conditions (Preprint)

Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia

scientific article published on 30 April 2019

Small molecule inhibition of RAS/MAPK signaling ameliorates developmental pathologies of Kabuki Syndrome

scientific article published on 17 July 2018

Temperature-activated ion channels in neural crest cells confer maternal fever-associated birth defects

scientific article published on 10 October 2017

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