O. Spasic-Boskovic

发表

The UK10K project identifies rare variants in health and disease

Tom R. Gaunt, Hashem A. Shihab, Gail P. Clement, 2016 .

The RNA binding protein Zfp36l1 is required for normal vascularisation and post‐transcriptionally regulates VEGF expression

M. Turner, G. Burton, J. Norton, 2006, Developmental dynamics : an official publication of the American Association of Anatomists.

Nuclear factor-kappa B, p38, and stress-activated protein kinase mitogen-activated protein kinase signaling pathways regulate proinflammatory cytokines and apoptosis in human placental explants in response to oxidative stress: effects of antioxidant vitamins.

D. Charnock-Jones, E. Jauniaux, G. Burton, 2007, The American journal of pathology.

Functional Predictors of Causative Cis-Regulatory Mutations in Mendelian Disease

D. Grozeva, P. Kind, H. R. Crollius, 2020, bioRxiv.

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.

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

Tom R. Gaunt, Hashem A. Shihab, Gail P. Clement, 2018, bioRxiv.

Rare Genetic Variation in 135 Families With Family History Suggestive of X-Linked Intellectual Disability

Courtney E. French, D. Grozeva, F. Raymond, 2019, Front. Genet..

Mutational Signature Analysis Reveals NTHL1 Deficiency to Cause a Multi-tumor Phenotype.

W. Foulkes, G. Capellá, I. Tomlinson, 2019, Cancer cell.

The 100,000 Genomes Pilot on Rare Disease Diagnosis in Healthcare − A Preliminary Report

Julius O. B. Jacobsen, Robert W. Taylor, Eleanor F. Dewhurst, 2021, The New England journal of medicine.

Ascorbate prevents placental oxidative stress and enhances birth weight in hypoxic pregnancy in rats

L. Poston, G. Burton, E. Camm, 2012, The Journal of physiology.

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.

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

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

The RNA Binding Protein Zfp36l1 Is Required for Normal Vascularisation and Post-Transcriptionally Regulates VEGF Expression o

G. Burton, J. Norton, John J Murphy, 2006 .

Mosaicism for a pathogenic MFN2 mutation causes minimal clinical features of CMT2A in the parent of a severely affected child

Soo-Mi Park, S. Abbs, R. Armstrong, 2017, neurogenetics.

Comparative cytogenetic analysis of European brown frogs: Rana temporaria, R. dalmatina and R. graeca

O. Spasic-Boskovic, N. Tanić, J. Blagojević, 1997 .

Biallelic CACNA1A variants: Review of literature and report of a child with drug‐resistant epilepsy and developmental delay

K. Baker, Saraswathy Sabanathan, A. Maw, 2022, American journal of medical genetics. Part A.

Transfer of folic acid inside the first-trimester gestational sac and the effect of maternal smoking.

E. Jauniaux, G. Burton, O. Spasic-Boskovic, 2007, American journal of obstetrics and gynecology.

Trophoblastic oxidative stress and the release of cell-free feto-placental DNA.

G. Burton, D. Bianchi, O. Spasic-Boskovic, 2006, The American journal of pathology.

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.

De novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disability.

M. Hurles, D. Grozeva, Soo-Mi Park, 2014, American journal of human genetics.

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.

Whole-genome sequencing of patients with rare diseases in a national health system

Keith W. Muir, William J. Astle, Mark I. McCarthy, 2020, Nature.

Targeted Next‐Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability

Alessandra Renieri, Bernard Keavney, Michael Field, 2015, Human mutation.

Oxidative stress, gene expression, and protein changes induced in the human placenta during labor.

D. Charnock-Jones, E. Jauniaux, G. Burton, 2007, The American journal of pathology.

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.

Identification and functional modelling of plausibly causative cis-regulatory variants in a highly-selected cohort with X-linked intellectual disability

D. Grozeva, P. Kind, J. Prendergast, 2021, PloS one.

Population composition and genetic variation of water frogs (Anura: Ranidae) from Yugoslavia

O. Spasic-Boskovic, I. Krizmanić, M. Vujošević, 1999 .

Targeted Next Generation Sequencing Analysis of 1000 individuals with Intellectual Disability

Roger E. Stevenson, Alessandra Renieri, Bernard Keavney, 2015 .

Whole-genome sequencing of patients with rare diseases in a national health system

William J. Astle, Sri V. V. Deevi, Kenneth G. C. Smith, 2020, Nature.

C-BANDING KARYOTYPES AND LOCATION OF NOR'S IN THE TOAD SPECIES BUFO BUFO AND BUFO VIRIDIS FROM YUGOSLAVIA

O. Spasic-Boskovic, G. Bilic, M. Vujošević, 2009 .

The Huntington's disease protein interacts with p53 and CREB-binding protein and represses transcription.

D. Housman, E. Wanker, G. Bates, 2000, Proceedings of the National Academy of Sciences of the United States of America.

Clinico-pathological co-occurrence of Fahr’s disease anddementia with Lewy bodies

J. Rowe, C. Galton, O. Spasic-Boskovic, 2020 .

Mosaicism for a pathogenic MFN2 mutation causes minimal clinical features of CMT2A in the parent of a severely affected child

Soo-Mi Park, S. Abbs, R. Armstrong, 2017, neurogenetics.

The UK10K project identifies rare variants in health and disease

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

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.

Edinburgh Research Explorer Identification and functional modelling of plausibly causative cis-regulatory variants in a highly-selected cohort with X-linked intellectual disability

D. Grozeva, O. Spasic-Boskovic, Shipra Bhatia, 2022 .

Discovery of a novel dominant mutation in the REN gene after forty years of renal disease: a case report

C. Shaw-Smith, S. Abbs, O. Spasic-Boskovic, 2017, BMC Nephrology.