Publications by authors named "Andrew Timms"

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Two New Cases Expand the Phenotypic Spectrum of TUBG1 Missense Variants.
Roser Urreizti, Jessica Vissicchio, Mohamed Idries, Monica Cozar, Raquel Rabionet, Andrew E Timms

Am J Med Genet A· September 2025

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Recurrent de novo variants in the spliceosomal factor CRNKL1 are associated with severe microcephaly and pontocerebellar hypoplasia with seizures.
Sankalita Ray Das, Rosie Sullivan, Mischa S G Ruegg, Julia Horsfield, Jordan Doran, Andrew Timms

Am J Hum Genet· July 2025

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Known pathogenic gene variants and new candidates detected in sudden unexpected infant death using whole genome sequencing.
Angela M Bard, Lindsay V Clark, Erdal Cosgun, Kimberly A Aldinger, Andrew Timms

Am J Med Genet A· November 2024

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Known pathogenic gene variants and new candidates detected in Sudden Unexpected Infant Death using Whole Genome Sequencing.
Angela M Bard, Lindsay V Clark, Erdal Cosgun, Kimberly A Aldinger, Andrew Timms

medRxiv· November 2023

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Functionalized Copper Nanoparticles with Gold Nanoclusters: Part I. Highly Selective Electrosynthesis of Hydrogen Peroxide.
Kun Luo, Ya Li, Tong Liu, Xiangqun Zhuge, Etelka Chung, Andrew R Timms

ACS Omega· October 2023

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Dominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome.
Jonai Pujol-Giménez, Ghayda Mirzaa, Elizabeth E Blue, Giuseppe Albano, Danny E Miller, Andrew Timms

Ann Clin Transl Neurol· June 2023

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Clinical, neuroimaging and molecular characteristics of -related neurodevelopmental disorders: an expanded series with functional characterisation and genotype-phenotype analysis.
Nora Oyama, Pieter Vaneynde, Sara Reynhout, Emily M Pao, Andrew Timms

J Med Genet· May 2023

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Correction: Genome Dynamics of Campylobacter jejuni in Response to Bacteriophage Predation.
Andrew E Scott, Andrew R Timms, Phillippa L Connerton, Catherine Loc Carrillo, Khairul Adzfa Radzun

PLoS Pathog· April 2023

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Transcriptomic Signatures of Single-Suture Craniosynostosis Phenotypes.
Samantha Lapehn, Jonas A Gustafson, Andrew E Timms, Michael L Cunningham, Alison G Paquette

Int J Mol Sci· March 2023

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Non-Toxigenic Strain E4 (NTCD-E4) Prevents Establishment of Primary Infection by Epidemic PCR Ribotype 027 in an In Vitro Human Gut Model.
Perezimor Etifa, César Rodríguez, Céline Harmanus, Ingrid M J G Sanders, Igor A Sidorov, Andrew R Timms

Antibiotics (Basel)· February 2023

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Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders.
Nataliya Di Donato, Renzo Guerrini, Charles J Billington, A James Barkovich, Philine Dinkel, Andrew E Timms

Brain· September 2022

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Anti-tumor activity of a T-helper 1 multiantigen vaccine in a murine model of prostate cancer.
Denise L Cecil, Benjamin Curtis, Ekram Gad, Michael Gormley, Andrew E Timms

Sci Rep· August 2022

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The arginine methyltransferase Carm1 is necessary for heart development.
Sophie Jamet, Seungshin Ha, Tzu-Hua Ho, Scott Houghtaling, Andrew Timms

G3 (Bethesda)· July 2022

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Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care.
Filomena Pirozzi, Matthew Berkseth, Rylee Shear, Lorenzo Gonzalez, Andrew E Timms

Brain· April 2022

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Machine Learning Prediction of Non-Coding Variant Impact in Human Retinal cis-Regulatory Elements.
Leah S VandenBosch, Kelsey Luu, Andrew E Timms, Shriya Challam, Yue Wu

Transl Vis Sci Technol· April 2022

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Cell-specific cis-regulatory elements and mechanisms of non-coding genetic disease in human retina and retinal organoids.
Eric D Thomas, Andrew E Timms, Sarah Giles, Sarah Harkins-Perry, Pin Lyu

Dev Cell· March 2022

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Activated interleukin-7 receptor signaling drives B-cell acute lymphoblastic leukemia in mice.
Kerri R Thomas, Eric J Allenspach, Nathan D Camp, Michelle N Wray-Dutra, Socheath Khim, Andrew E Timms

Leukemia· January 2022

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The Autoimmune Risk R262W Variant of the Adaptor SH2B3 Improves Survival in Sepsis.
Eric J Allenspach, Nicholas J Shubin, Karen Cerosaletti, Carmen Mikacenic, Jacquelyn A Gorman, Andrew E Timms

J Immunol· December 2021

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Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome.
Marjolein J A Weerts, Kristina Lanko, Francisco J Guzmán-Vega, Adam Jackson, Reshmi Ramakrishnan, Andrew E Timms

Genet Med· November 2021

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Gene regulatory networks controlling temporal patterning, neurogenesis, and cell-fate specification in mammalian retina.
Pin Lyu, Thanh Hoang, Clayton P Santiago, Eric D Thomas, Andrew E Timms

Cell Rep· November 2021

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Spiny mice activate unique transcriptional programs after severe kidney injury regenerating organ function without fibrosis.
Daryl M Okamura, Chris M Brewer, Paul Wakenight, Nadia Bahrami, Kristina Bernardi, Andrew E Timms

iScience· November 2021

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Evidence of disrupted rhombic lip development in the pathogenesis of Dandy-Walker malformation.
Parthiv Haldipur, Silvia Bernardo, Kimberly A Aldinger, Tarika Sivakumar, Jake Millman, Andrew E Timms

Acta Neuropathol· October 2021

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Adaptations in Hippo-Yap signaling and myofibroblast fate underlie scar-free ear appendage wound healing in spiny mice.
Chris M Brewer, Branden R Nelson, Paul Wakenight, Sarah J Collins, Daryl M Okamura, Andrew Timms

Dev Cell· October 2021

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Spatial and cell type transcriptional landscape of human cerebellar development.
Kimberly A Aldinger, Zachary Thomson, Ian G Phelps, Parthiv Haldipur, Mei Deng, Andrew E Timms

Nat Neurosci· August 2021

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Haploinsufficiency of SF3B2 causes craniofacial microsomia.
Andrew T Timberlake, Casey Griffin, Carrie L Heike, Anne V Hing, Michael L Cunningham, Andrew E Timms

Nat Commun· August 2021

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