Kerith-Rae Dias

发表

Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease

Sarah Edkins, Cisca Wijmenga, Lude Franke, 2011, Nature Genetics.

The forensic characterisation of the soil microbial community in response to cadaver decomposition

Kerith-Rae Dias, 2011 .

CBX1 variants cause a neurodevelopmental syndrome due to facultative heterochromatin dysfunction

E. Zackai, S. Grant, T. Roscioli, 2020 .

A De Novo Mutation in the Sodium-Activated Potassium Channel KCNT2 Alters Ion Selectivity and Causes Epileptic Encephalopathy.

A. Bye, M. Cowley, M. Dinger, 2017, Cell reports.

Germline AGO2 mutations impair RNA interference and human neurological development

R. Pfundt, M. Reijnders, G. Meister, 2020, Nature Communications.

De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations.

H. Mefford, K. Yamakawa, M. Bainbridge, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Identification of Type 1 Diabetes–Associated DNA Methylation Variable Positions That Precede Disease Diagnosis

Thomas A. Down, Stephan Beck, Huriya Beyan, 2010, PLoS genetics.

CBX1 mutations cause a neurodevelopmental syndrome due to heterochromatin organizational alterations

E. Zackai, S. Grant, T. Roscioli, 2020 .

Microbial Community Analysis of Human Decomposition on Soil

Arpad A. Vass, Mark Tibbett, N. Banning, 2009 .

Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness

Marcel E Dinger, Tony Roscioli, Ying Zhu, 2018, Molecular genetics & genomic medicine.

Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.

P. Lockhart, I. Scheffer, H. Mefford, 2022, American journal of human genetics.

A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures

J. Rosenfeld, P. Stankiewicz, A. Breman, 2018, Cell.

Comparison of whole-exome sequencing of matched fresh and formalin fixed paraffin embedded melanoma tumours: implications for clinical decision making.

Marcel E Dinger, Graham J Mann, Richard A Scolyer, 2016, Pathology.

Dominant-negative mutations in CBX1 cause a neurodevelopmental disorder

Maeson S. Latsko, E. Zackai, D. Koboldt, 2023, bioRxiv.

Asparagine Synthetase Deficiency causes reduced proliferation of cells under conditions of limited asparagine.

A. Bye, M. Cowley, M. Dinger, 2015, Molecular genetics and metabolism.

Clinically Responsive Genomic Analysis Pipelines: Elements to improve detection rate and efficiency.

S. Sandaradura, T. Roscioli, J. Fletcher, 2021, The Journal of molecular diagnostics : JMD.

Rare and functional SIAE variants are not associated with autoimmune disease risk in up to 66,924 individuals of European ancestry

Tariq Ahmad, Sarah Edkins, Christopher G Mathew, 2011, Nature Genetics.

De novo MCM6 variants in neurodevelopmental disorders: a recognizable phenotype related to zinc binding residues

H. Van Esch, G. Mancini, T. Roscioli, 2023, Human Genetics.

A simple and novel method for RNA‐seq library preparation of single cell cDNA analysis by hyperactive Tn5 transposase

S. Kuersten, Leena Bhaw-Rosun, Kerith-Rae Dias, 2012, Developmental dynamics : an official publication of the American Association of Anatomists.

Meta-analysis of Immunochip data of four autoimmune diseases reveals novel single-disease and cross-phenotype associations

Vincent H. Everett, Annette Lee, P. Gregersen, 2018, Genome Medicine.

Dominant-negative variants in CBX1 cause a neurodevelopmental disorder.

Maeson S. Latsko, D. Koboldt, C. Obuse, 2023, Genetics in medicine : official journal of the American College of Medical Genetics.