Hannah Titheradge

Hannah Titheradge

UNVERIFIED PROFILE

Are you Hannah Titheradge?   Register this Author

Register author
Hannah Titheradge

Hannah Titheradge

Publications by authors named "Hannah Titheradge"

Are you Hannah Titheradge?   Register this Author

13Publications

461Reads

24Profile Views

A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies.

Am J Hum Genet 2019 04 14;104(4):596-610. Epub 2019 Mar 14.

Centre Hospitalier Universitaire Sainte-Justine Research Center, University of Montreal, Montreal, QC H3T 1C5, Canada; Department of Pediatrics, University of Montreal, Montreal, QC H4A 3J1, Canada. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2019.02.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6451697PMC
April 2019

A homozygous variant disrupting the PIGH start-codon is associated with developmental delay, epilepsy, and microcephaly.

Hum Mutat 2018 06 30;39(6):822-826. Epub 2018 Mar 30.

National Institute for Health Research Oxford Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, Oxford, Oxfordshire, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.23420DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6001798PMC
June 2018

The Deubiquitinase OTULIN Is an Essential Negative Regulator of Inflammation and Autoimmunity.

Cell 2016 Aug 11;166(5):1215-1230.e20. Epub 2016 Aug 11.

Medical Research Council Laboratory of Molecular Biology, Francis Crick Avenue, Cambridge Biomedical Campus, Cambridge CB2 0QH, UK. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.cell.2016.07.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5002269PMC
August 2016

Branchio-oculo-facial syndrome: a three generational family with markedly variable phenotype including neonatal lethality.

Clin Dysmorphol 2015 Jan;24(1):13-6

aDepartment of Clinical Genetics, Birmingham Women's NHS Foundation Trust, Birmingham bDepartment of Biological and Medical Sciences, Faculty of Health and Life Sciences, Oxford Brookes University, Oxford, UK cGenetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MCD.0000000000000056DOI Listing
January 2015

Axenfeld-Rieger syndrome: further clinical and array delineation of four unrelated patients with a 4q25 microdeletion.

Am J Med Genet A 2014 Jul 8;164A(7):1695-701. Epub 2014 Apr 8.

Department of Clinical Genetics, Birmingham Women's NHS Foundation Trust, Birmingham, United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.36540DOI Listing
July 2014

Craniosynostosis: a previously unreported association with CHST3-related skeletal dysplasia (autosomal recessive Larsen syndrome).

Clin Dysmorphol 2014 Jan;23(1):12-5

aClinical Genetics, Sheffield Children's Hospital, Western Bank, Sheffield bYorkshire Regional Genetics Service, Chapel Allerton Hospital cDepartment of Radiology, Leeds General Infirmary dDepartment of Neurosurgery, Leeds Teaching Hospitals NHS Trust, Leeds eClinical Genetics Unit, Birmingham Women's Hospital, Birmingham, UK fDiagenos, Center for Medical Genetics, Caprivistrasse 30, Osnabrueck, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MCD.0000000000000021DOI Listing
January 2014

Methaemoglobinaemia with G6PD deficiency: rare cause of persistently low saturations in neonates.

Acta Paediatr 2011 Jul;100(7):e47-8

Department of Paediatrics, Sandwell & West Birmingham NHS Hospitals Trust, Birmingham, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1651-2227.2011.02278.xDOI Listing
July 2011