Anja Kolb-Kokocinski

发表

An integrated map of genetic variation from 1,092 human genomes

Kenny Q. Ye, Mauricio O. Carneiro, Francisco M. De La Vega, 2012, Nature.

Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel

Tom R. Gaunt, Klaudia Walter, Nicholas J Timpson, 2015, Nature Communications.

The UK10K project identifies rare variants in health and disease

Tom R. Gaunt, Thomas M. Keane, Hashem A. Shihab, 2015, Nature.

A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans

Gail Clement, Jie Huang, Antonio Ciampi, 2014, Nature Communications.

Common genetic variation drives molecular heterogeneity in human iPSCs

Davis J. McCarthy, Daniel J. Gaffney, Shane A. McCarthy, 2017, Nature.

Common genetic variation drives molecular heterogeneity in human iPSCs

Davis J. McCarthy, Daniel J. Gaffney, Shane A. McCarthy, 2016, Nature.

Deficient methylation and formylation of mt-tRNAMet wobble cytosine in a patient carrying mutations in NSUN3

Michaela Frye, Richard Durbin, Holger Prokisch, 2016, Nature Communications.

Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity

Tom R. Gaunt, Thomas M. Keane, Hashem A. Shihab, 2017, Scientific Reports.

Homozygous loss-of-function variants in European cosmopolitan and isolate populations

Martin S. Taylor, Ross M. Fraser, R. Durbin, 2015, Human molecular genetics.

Insights into hominid evolution from the gorilla genome sequence

Albert J. Vilella, Gregory E. Jordan, Petra C. Schwalie, 2012, Nature.

Clonality of circulating tumor cells in breast cancer brain metastasis patients

M. Westphal, S. Sauer, K. Pantel, 2019, Breast Cancer Research.

Gata2, Fli1, and Scl form a recursively wired gene-regulatory circuit during early hematopoietic development

Berthold Göttgens, John E. Pimanda, Nicola K. Wilson, 2007, Proceedings of the National Academy of Sciences.

Low-frequency variation in TP53 has large effects on head circumference and intracranial volume

Tom R. Gaunt, Thomas M. Keane, Chin Yang Shapland, 2018, bioRxiv.

Universitet Low-frequency variation in TP 53 has large effects on head circumference and intracranial

Tom R. Gaunt, Thomas M. Keane, Hashem A. Shihab, 2019 .

TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport

Tom R. Gaunt, Thomas M. Keane, Colin A. Johnson, 2015, Nature Communications.

Mutations in the ribosomal protein gene RPL10 suggest a novel modulating disease mechanism for autism

S. Klauck, A. Poustka, F. Poustka, 2006, Molecular Psychiatry.

Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement

Robert W. Taylor, R. Durbin, T. Wieland, 2015, Annals of clinical and translational neurology.

A Runx1-Smad6 Rheostat Controls Runx1 Activity during Embryonic Hematopoiesis

B. Göttgens, N. Wilson, S. Kinston, 2011, Molecular and Cellular Biology.

Endoglin expression in blood and endothelium is differentially regulated by modular assembly of the Ets/Gata hemangioblast code.

Nicola K. Wilson, B. Göttgens, N. Wilson, 2008, Blood.

Application of phage display to high throughput antibody generation and characterization

Y. Hooks, J. McCafferty, G. Maslen, 2007, Genome Biology.

TTC25 Deficiency Results in Defects of the Outer Dynein Arm Docking Machinery and Primary Ciliary Dyskinesia with Left-Right Body Asymmetry Randomization.

R. Durbin, J. Wallingford, H. Omran, 2016, American journal of human genetics.

DNAH11 Localization in the Proximal Region of Respiratory Cilia Defines Distinct Outer Dynein Arm Complexes.

R. Durbin, H. Omran, N. Katsanis, 2016, American journal of respiratory cell and molecular biology.

Steroid receptor coactivator-1 modulates the function of Pomc neurons and energy homeostasis

Tom R. Gaunt, Thomas M. Keane, Hashem A. Shihab, 2019, Nature Communications.

Immunofluorescence Analysis and Diagnosis of Primary Ciliary Dyskinesia with Radial Spoke Defects.

R. Durbin, H. Omran, S. Sauer, 2015, American journal of respiratory cell and molecular biology.

Purging of deleterious variants in Italian founder populations with extended autozygosity

Harvard, R. Durbin, V. Colonna, 2015 .

Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity

Tom R. Gaunt, Thomas M. Keane, Hashem A. Shihab, 2017, Scientific Reports.

The systematic functional characterisation of Xq28 genes prioritises candidate disease genes

A. Poustka, S. Wiemann, R. Wellenreuther, 2006, BMC Genomics.

Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel

Tom R. Gaunt, Thomas M. Keane, Hashem A. Shihab, 2015, Nature Communications.

Tyrosine kinase 2 is not limiting human antiviral type III interferon responses

H. Omran, S. Ehl, S. Fuchs, 2016, European journal of immunology.

Publisher Correction: Single-cell RNA-sequencing of differentiating iPS cells reveals dynamic genetic effects on gene expression

Davis J. McCarthy, Daniel J. Gaffney, Shane A. McCarthy, 2020, Nature Communications.

Alternative pre-mRNA processing regulates cell-type specific expression of the IL4l1 and NUP62 genes

A. Poustka, S. Wiemann, A. Kolb-Kokocinski, 2005, BMC Biology.

Opus: University of Bath Online Publication Store Deficient Methylation and Formylation of Mt-trna Met Wobble Cytosine in a Patient Carrying Mutations in Nsun3

M. Minczuk, M. Frye, Y. Memari, 2022 .

Purging of deleterious variants due to drift and founder effect in Italian populations with extended autozygosity

Shane A. McCarthy, R. Durbin, V. Colonna, 2015, bioRxiv.