Siddharth Banka

The University of Manchester

United Kingdom

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Positions (1)

Siddharth Banka

University Name

The University of Manchester

1 year ago

Genetic disorders and G-quadruplexes

No summary provided for this position.

1 year ago

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Collaborators (58)

Claire-Sophie Davoine

Institut du Cerveau et de la Moelle Épinière

FRANCE

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Meena Balasubramanian

University of Sheffield

UNITED KINGDOM

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Stefan Barakat

Associate professor

Erasmus MC

NETHERLANDS

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Ludger Schöls

Section head

Eberhard Karls Universität Tübingen

GERMANY

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Sandrine PASSEMARD

Université Paris Cité

FRANCE

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William Newman

The University of Manchester

UNITED KINGDOM

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Edward Tobias

University of Glasgow

UNITED KINGDOM

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Raymond T O'Keefe

The University of Manchester

UNITED KINGDOM

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Sarah Weckhuysen

Prof. at University of Antwerp

University of Antwerp

BELGIUM

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Nayana Lahiri

Honorary senior lecturer

St George’s, University of London

UNITED KINGDOM

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Miranda Durkie

Deputy head of rare disease

UNITED KINGDOM

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Georgios Koutsis

Associate Professor of Neurology and Neurogenetics

Ethniko kai Kapodistriako Panepistemio Athenon Iatrike Schole

GREECE

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Anu Goenka

The University of Manchester

UNITED KINGDOM

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Isabelle Schrauwen

Columbia University

UNITED STATES

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Geert Geeven

Head of Bioinformatics Group

Erasmus MC

NETHERLANDS

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Lara Menzies

Honorary Associate Professor

University College London

UNITED KINGDOM

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Sally Ann Lynch

IRELAND

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Tom Fowler

Queen Mary University of London

UNITED KINGDOM

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Ermal Aliu

University of Pittsburgh

UNITED STATES

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Konstantina Drosou

The University of Manchester

UNITED KINGDOM

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Martin Lowe

UNITED KINGDOM

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Leslie Sanderson

Assistant Professor

Erasmus MC

NETHERLANDS

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James Buchanan

Queen Mary University of London

UNITED KINGDOM

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Manuela Morleo

Assistant Professor

University of Campania “Luigi Vanvitelli”

ITALY

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Ilse Meerschaut

University Hospitals Leuven

BELGIUM

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Giovanni Stevanin

Directeur d'Etudes Cumulant (Professor)

École Pratique des Hautes Études

FRANCE

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Claude Knauf

Université Paul Sabatier

FRANCE

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Alistair Pagnamenta

University of Exeter

UNITED KINGDOM

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Ferenc Torma

Assistant Professor

University of Tsukuba

JAPAN

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Erdinc Sezgin

Assoc. Prof. at Karolinska Institutet

Karolinska Institutet

SWEDEN

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Marek Turnovec

University Hospital in Motol

CZECH REPUBLIC

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KATHERINE LACHLAN

Honorary Senior Clinical Lecturer

University of Southampton

UNITED KINGDOM

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kevin munro

The University of Manchester

UNITED KINGDOM

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Manuel Posada

Senior Research Full Professor, Rare Diseases Research Institute, ISCIII

Instituto de Salud Carlos III

SPAIN

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Mridul Johari

University of Helsinki

FINLAND

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Karen Low

University of Bristol

UNITED KINGDOM

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Ilaria Parenti

Universität Duisburg-Essen

GERMANY

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Silvia De Rubeis

Associate Professor

Icahn School of Medicine at Mount Sinai

UNITED STATES

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Jamie Kirkham

The University of Manchester

UNITED KINGDOM

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James O'Sullivan

University of Manchester

UNITED KINGDOM

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Andreas G Chiocchetti

Prof

Goethe University Frankfurt

GERMANY

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Andrey Kozlov

Ludwig Boltzmann Institute of Osteology

AUSTRIA

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Massimiliano Rossi

Université Claude Bernard Lyon 1

FRANCE

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Kinga Bujakowska

Assistant Professor

Harvard University

UNITED STATES

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Samantha Knight

Head of Clinical Academic Development

University of Oxford

UNITED KINGDOM

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Theodore G. Drivas

UNITED STATES

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Eduardo Calpena

University of Oxford

UNITED KINGDOM

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Rita Horvath

University of Cambridge

UNITED KINGDOM

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Ramona Moldovan

Senior Lecturer

The University of Manchester

UNITED KINGDOM

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Kareem Elsayad

Medical University of Vienna

AUSTRIA

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Jamie Ellingford

The University of Manchester

UNITED KINGDOM

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Elsebet Østergaard

Associate Professor, PhD

University of Copenhagen

DENMARK

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Dimitris Polychronopoulos

Chief Data Officer and co-founder

CureCollect

UNITED KINGDOM

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Yves Sznajer

Head and Coordinator

Cliniques Universitaires Saint-Luc

BELGIUM

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Gisèle Bonne

INSERM

FRANCE

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Katherine Payne

The University of Manchester

UNITED KINGDOM

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Jeffrey Chamberlain

Professor and McCaw Chair

Washington University School of Medicine

UNITED STATES

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Jamie Kramer

Associate Professor

Dalhousie University

CANADA

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Siddharth Banka

Research Interests

Explore related searches

Positions (1)

Genetic disorders and G-quadruplexes

Articles (30)

DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders.

Utility of genome sequencing and group-enrichment to support splice variant interpretation in Marfan syndrome

Analysis of R-loop forming regions identifies RNU2-2 and RNU5B-1 as neurodevelopmental disorder genes

Bi-allelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered apoptosis and a Perrault-syndrome-spectrum phenotype

Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder

Loss of DOT1L disrupts neuronal transcription and leads to a neurodevelopmental disorder

Systematic identification of disease-causing promoter and untranslated region variants in 8040 undiagnosed individuals with rare disease

Correction: Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes

Identification and characterization of short-chain dehydrogenase/reductase 3 (DHRS3) deficiency, a retinoic acid embryopathy of humans

Patient-reported outcomes and measures are under-utilised in advanced therapy medicinal products trials for orphan conditions

Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes

DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity

Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles

Exploring the benefits, harms and costs of genomic newborn screening for rare diseases

Systematic reanalysis of copy number losses of uncertain clinical significance

The impact of inversions across 33,924 families with rare disease from a national genome sequencing project

Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases

Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features

Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt

Biallelic CRELD1 variants cause a multisystem syndrome including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections

A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14

Assessment highlights need for improvement in standards of development of core outcome sets for rare genetic diseases

AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model

Locus conversions are rare in the LRFN5 locus

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder

Author Correction: PCYT2-regulated lipid biosynthesis is critical to muscle health and ageing

Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly

PCYT2-regulated lipid biosynthesis is critical to muscle health and ageing

Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice

Collaborators (58)

Claire-Sophie Davoine

Meena Balasubramanian

Stefan Barakat

Ludger Schöls

Sandrine PASSEMARD

William Newman

Edward Tobias

Raymond T O'Keefe

Sarah Weckhuysen

Nayana Lahiri

Miranda Durkie

Georgios Koutsis

Anu Goenka

Isabelle Schrauwen

Geert Geeven

Lara Menzies

Sally Ann Lynch

Tom Fowler

Ermal Aliu

Konstantina Drosou

Martin Lowe

Leslie Sanderson

James Buchanan

Manuela Morleo

Ilse Meerschaut

Giovanni Stevanin

Claude Knauf

Alistair Pagnamenta

Ferenc Torma

Erdinc Sezgin

Marek Turnovec

KATHERINE LACHLAN

kevin munro

Manuel Posada

Mridul Johari

Karen Low

Ilaria Parenti

Silvia De Rubeis

Jamie Kirkham

James O'Sullivan

Andreas G Chiocchetti

Andrey Kozlov

Massimiliano Rossi