C. Babbs

发表

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders

Davis J. McCarthy, Calliope A. Dendrou, Lisa J. Murray, 2015, Nature Genetics.

Genetic dissection of the α-globin super-enhancer in vivo

L. Pennacchio, J. Telenius, J. Hughes, 2016, Nature Genetics.

A tissue-specific self-interacting chromatin domain forms independently of enhancer-promoter interactions

J. Telenius, J. Hughes, D. Higgs, 2017, Nature Communications.

Mechanical Properties of Calvarial Bones in a Mouse Model for Craniosynostosis

Erwin Pauws, Mehran Moazen, Michael J. Fagan, 2015, PloS one.

Predicting calvarial growth in normal and craniosynostotic mice using a computational approach

Michael J Fagan, Erwin Pauws, Mehran Moazen, 2018, Journal of anatomy.

Nprl3 is required for normal development of the cardiovascular system

Monika S. Kowalczyk, C. Ponting, S. Bhattacharya, 2012, Mammalian Genome.

A new locus for split hand/foot malformation with long bone deficiency (SHFLD) at 2q14.2 identified from a chromosome translocation

C. Schwartz, S. Twigg, A. Wilkie, 2007, Human Genetics.

The Craniofacial Phenotype of the Crouzon Mouse: Analysis of a Model for Syndromic Craniosynostosis Using Three-Dimensional MicroCT

Daniel Govier, Sven Kreiborg, Chad A Perlyn, 2006, The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association.

An international registry of survivors with Hb Bart's hydrops fetalis syndrome.

D. Higgs, C. Babbs, D. Songdej, 2017, Blood.

Duplication of the EFNB1 Gene in Familial Hypertelorism: Imbalance in Ephrin-B1 Expression and Abnormal Phenotypes in Humans and Mice

S. Twigg, A. Wilkie, A. Goriely, 2011, Human mutation.

Structured gastroenterological intervention and improved outcome for patients with chronic gastrointestinal symptoms following pelvic radiotherapy

J. Mclaughlin, J. Limdi, Y. Ang, 2013, Supportive Care in Cancer.

Functional bowel disorders. A multicenter comparison of health status and development of illness severity index.

D. Drossman, N. Read, N. Diamant, 1995, Digestive diseases and sciences.

A questionnaire study assessing overuse injuries in United Kingdom endoscopists and any effect from the introduction of the National Bowel Cancer Screening Program on these injuries.

R. George, C. Babbs, J. Geraghty, 2011, Gastrointestinal endoscopy.

Functional Bowel Disorders

D. Drossman, W. Whitehead, N. Read, 1995, The American Journal of Gastroenterology.

C. Babbs, E. Love, J. Craske, 1995, The Journal of infection.

The histopathological features of asymptomatic hepatitis C virus‐antibody positive blood donors

C. Babbs, E. Love, T. Warnes, 1994 .

The histopathological features of asymptomatic hepatitis C virus‐antibody positive blood donors

C. Babbs, T. Warnes, R. McMahon, 1994, Histopathology.

Whole genome sequencing of a sporadic primary immunodeficiency cohort

William J. Astle, Sri V. V. Deevi, Kenneth G. C. Smith, 2018, Nature.

Identification and analysis of genes from the mouse otic vesicle and their association with developmental subprocesses through in situ hybridization.

C. Babbs, N. Powles, M. Maconochie, 2004, Developmental biology.

A novel 33‐Gene targeted resequencing panel provides accurate, clinical‐grade diagnosis and improves patient management for rare inherited anaemias

D. Ferguson, D. Higgs, A. Schuh, 2016, British journal of haematology.

Developmental mechanisms underlying polydactyly in the mouse mutant Doublefoot

G. Morriss-Kay, C. Babbs, Jennifer M. Brown, 2003, Journal of anatomy.

Multipartite super-enhancers function in an orientation-dependent manner

Matthew E. Gosden, D. Downes, J. Hughes, 2022, bioRxiv.

A ploidy-agnostic method for estimating telomere length from whole genome sequencing data.

Ania, Eleanor, Dewhurst, 2018 .

Profound Hypoglycaemia Induced by Propranolol in a Patient with Hepatic Cirrhosis and Severe Hyperandrogenaemia

I. Laing, C. Babbs, T. Warnes, 1995, Annals of Clinical Biochemistry.

Non-cirrhotic portal hypertension with hypoxaemia.

C. Babbs, N. Haboubi, T. Warnes, 1988, Gut.

A patient with impaired gastric motility

C. Babbs, J. Shaffer, W. Rees, 2007, Gut.

The chromatin remodelling factor ATRX suppresses R‐loops in transcribed telomeric repeats

T. Jenuwein, D. Higgs, J. Sharpe, 2017, EMBO reports.

Hypophosphataemia in acute liver failure.

C. Babbs, T. Warnes, R. Neary, 1987, British medical journal.

Functional bowel disorders

David Thompson, D. Drossman, W. Whitehead, 2005, Digestive Diseases and Sciences.

COLCHICINE MYONEUROPATHY

C. Besana, V. Baldini, C. Babbs, 1987, The Lancet.

De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures

Henning Gall, Fengyuan Hu, Kevin Rue-Albrecht, 2018, American journal of human genetics.

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

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

Endothelial cell damage in primary biliary cirrhosis: influence of cholestasis and immunological mechanisms

J. Neuberger, J. Neuberger, A. Blann, 1992, Clinical and experimental immunology.

Endothelial cell damageinprimary biliary cirrhosis: influence ofcholestasis andimmunological mechanisms

A. Blann, C. Babbs, J. M. NEUBERGERt, 1992 .

Increased expression of intercellular adhesion molecule 1 on bile ducts in primary biliary cirrhosis and primary sclerosing cholangitis

Jean Shaw, J. Neuberger, D. Adams, 1991, Hepatology.

Mutations in Kruppel-like factor 1 cause transfusion-dependent hemolytic anemia and persistence of embryonic globin gene expression.

S. Philipsen, D. Higgs, V. Viprakasit, 2014, Blood.

The pathogenesis, diagnosis and management of congenital dyserythropoietic anaemia type I

C. Babbs, N. Roy, 2019, British journal of haematology.

Reactivation of a developmentally silenced embryonic globin gene

S. Orkin, L. Pennacchio, D. Downes, 2021, Nature Communications.

De novo and rare inherited mutations implicate the transcriptional coregulator TCF20/SPBP in autism spectrum disorder

A. Pagnamenta, G. Mirza, J. Parr, 2014, Journal of Medical Genetics.

Predicting the three-dimensional folding of cis-regulatory regions in mammalian genomes using bioinformatic data and polymer models

Davide Marenduzzo, Jim R. Hughes, Dominic Waithe, 2016, Genome Biology.

Polydactyly in the mouse mutant Doublefoot involves altered Gli3 processing and is caused by a large deletion in cis to Indian hedgehog

A. Wilkie, G. Morriss-Kay, C. Babbs, 2008, Mechanisms of Development.

Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome.

S. Robertson, S. Twigg, A. Wilkie, 2004, Proceedings of the National Academy of Sciences of the United States of America.

Recapitulation of erythropoiesis in congenital dyserythropoietic anemia type I (CDA-I) identifies defects in differentiation and nucleolar abnormalities

M. Brand, D. Ferguson, R. Schwessinger, 2020, Haematologica.

ATR16 Syndrome: Mechanisms Linking Monosomy to Phenotype

A. Wilkie, D. Higgs, J. Traeger-Synodinos, 2019, bioRxiv.

Whole-genome sequencing of a sporadic primary immunodeficiency cohort

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

Skeletal analysis of the Fgfr3P244R mouse, a genetic model for the Muenke craniosynostosis syndrome

Gillian M Morriss-Kay, Christian Babbs, S. Twigg, 2009, Developmental dynamics : an official publication of the American Association of Anatomists.

Characterizing and Modeling Bone Formation during Mouse Calvarial Development.

Y. Ventikos, M. Fagan, M. Moazen, 2019, Physical review letters.

Majeed syndrome: description of a novel mutation and therapeutic response to bisphosphonates and IL-1 blockade with anakinra

S. McGowan, V. Buckle, C. Babbs, 2019, Rheumatology.

Scalable in vitro production of defined mouse erythroblasts

Matthew E. Gosden, D. Higgs, Mira T Kassouf, 2020, bioRxiv.

A tissue-specific self-interacting chromatin domain forms independently of enhancer-promoter interactions

J. Hughes, D. Higgs, N. Roberts, 2017, bioRxiv.

Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes

J. Ragoussis, S. Knight, H. Brunner, 2013, Human molecular genetics.

Homozygous mutations in a predicted endonuclease are a novel cause of congenital dyserythropoietic anemia type I

Peter Donnelly, Gil McVean, Chris P. Ponting, 2013, Haematologica.

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.

Functional impairment of erythropoiesis in Congenital Dyserythropoietic Anaemia type I arises at the progenitor level

D. Higgs, V. Buckle, C. Babbs, 2022, British journal of haematology.

Genetic and functional insights into CDA-I prevalence and pathogenesis

J. Marsh, P. McHugh, D. Downes, 2020, Journal of Medical Genetics.

Modelling erythropoiesis in congenital dyserythropoietic anaemia type I (CDA-I)

M. Brand, D. Ferguson, R. Schwessinger, 2019, bioRxiv.

High incidence of poor sulfoxidation in patients with primary biliary cirrhosis.

D. Clements, A. Olomu, R. Waring, 1988, The New England journal of medicine.

A new mouse model of ATR-X syndrome carrying a common patient mutation exhibits neurological and morphological defects

M. Justice, J. Sled, Yohan Yee, 2023, bioRxiv.

Robust CRISPR/Cas9 Genome Editing of the HUDEP-2 Erythroid Precursor Line Using Plasmids and Single-Stranded Oligonucleotide Donors

S. Knight, D. Higgs, Yukio Nakamura, 2018, Methods and protocols.

IgA nephropathy in non-cirrhotic portal hypertension.

C. Babbs, T. Warnes, F. Ballardie, 1991, Gut.

Nodular regenerative hyperplasia of the liver, CREST syndrome and primary biliary cirrhosis: an overlap syndrome?

C. Babbs, T. Warnes, R. McMahon, 1989, Gut.

Challenges in diagnosing acute pancreatitis in renal transplant patients

P. Kalra, C. Babbs, Alistair Cowie, 2009, Clinical transplantation.

Opiate withdrawal syndrome mimicking postoperative intestinal obstruction.

C. Babbs, G. Carlson, S. Anwar, 2004, Annals of the Royal College of Surgeons of England.

Small bowel angiodysplasia in a patient on haemodialysis: difficulties in diagnosis and management

P. Kalra, C. Babbs, C. Chrysochou, 2009, BMJ Case Reports.

Endoscopic mucosal resection of colorectal polyps in typical UK hospitals.

B. Tan, C. Babbs, T. Lim, 2010, World journal of gastroenterology.

TYPE III PROCOLLAGEN PEPTIDE: A MARKER OF DISEASE ACTIVITY AND PROGNOSIS IN PRIMARY BILIARY CIRRHOSIS

L. Hunt, C. Babbs, N. Haboubi, 1988, The Lancet.

Nodular hyperplasia of the liver in primary biliary cirrhosis of early histological stages.

C. Babbs, N. Haboubi, T. Warnes, 1987, American Journal of Gastroenterology.

PERCUTANEOUS ENDOSCOPIC GASTROSTOMY AND VENTRICULOPERITONEAL SHUNTS: A DANGEROUS COMBINATION?

C. Babbs, A. Cairns, A. al-Rifai, 2009, Digestive endoscopy : official journal of the Japan Gastroenterological Endoscopy Society.

Nprl3 is required for normal development of the cardiovascular system

Monika S. Kowalczyk, C. Ponting, S. Bhattacharya, 2012, Mammalian Genome.

Psychiatric Referrals within the Hospital – the Communication Process

F. Creed, C. Babbs, I. Leonard, 1990, Journal of the Royal Society of Medicine.

Non-penetrance and late appearance of polyps in families with familial adenomatous polyposis.

D. Evans, N. Thakker, T. Clancy, 1993, Gut.

RNA Polymerase II pausing temporally coordinates cell cycle progression and erythroid differentiation

Jacob C. Ulirsch, L. S. Churchman, D. Higgs, 2023, medRxiv.

Another treatment for primary biliary cirrhosis.

P. Johnson, C. Babbs, N. Haboubi, 1987, Gastroenterology.

Treatment of Primary Biliary Cirrhosis

C. Babbs, T. Warnes, A. Smith, 1985, British medical journal.

Treatment of primary biliary cirrhosis.

C. Babbs, T. Warnes, A. Smith, 1987, Seminars in liver disease.

Primary biliary cirrhosis after benoxaprofen.

C. Babbs, T. Warnes, 1986, British medical journal.

FUNCTIONAL BOWEL DISORDERS

R. Spiller, W. Chey, D. Drossman, 2011 .

Increased expression of intercellular adhesion molecule 1 on bile ducts in primary biliary cirrhosis and primary sclerosing cholangitis

J. Neuberger, D. Adams, R. Rothlein, 1991, Hepatology.

RNA polymerase II pausing temporally coordinates cell cycle progression and erythroid differentiation.

Jacob C. Ulirsch, L. S. Churchman, D. Higgs, 2023, Developmental cell.

Hypophosphataemia in acute liver failure.

C. Babbs, T. Warnes, R. Neary, 1987, British medical journal.

Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data

Andy G Lynch, Sri V. V. Deevi, Eleanor F. Dewhurst, 2017, Scientific Reports.

Topiramate-induced psychosis in two members of the one family: a case report

R. José, C. Babbs, A. Cairns, 2008, Journal of Medical Case Reports.

A novel 33‐Gene targeted resequencing panel provides accurate, clinical‐grade diagnosis and improves patient management for rare inherited anaemias

D. Ferguson, D. Higgs, A. Schuh, 2016, British journal of haematology.

Predicting the three-dimensional folding of cis-regulatory regions in mammalian genomes using bioinformatic data and polymer models

D. Marenduzzo, C. Brackley, J. Hughes, 2016, Genome Biology.

Characterizing and Modeling Bone Formation during Mouse Calvarial Development.

Y. Ventikos, M. Fagan, M. Moazen, 2019, Physical review letters.

Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data

Sri V. V. Deevi, Eleanor F. Dewhurst, Courtney E. French, 2017, Scientific Reports.

ATR-16 syndrome: mechanisms linking monosomy to phenotype

A. Wilkie, D. Higgs, J. Traeger-Synodinos, 2020, Journal of Medical Genetics.