Bethan E. Hoskins

发表

Bridging the gap between monogenic and multifactorial disease: the Bardet-Biedl syndrome

Peter J. Scambler, Alison Ross, Pl Beales, 2003 .

Multiplex capillary heteroduplex analysis (MCHA): A rapid and sensitive method for detection of mutations in Bardet-Biedl syndrome genes.

Peter J. Scambler, Pl Beales, Bethan E. Hoskins, 2002 .

Haplotype analysis of the M390R mutation within BBS1, the most common locus for Bardet-Biedl syndrome

Peter J. Scambler, Alison Ross, Pl Beales, 2003 .

A Systematic Approach to Mapping Recessive Disease Genes in Individuals from Outbred Populations

Peter Nürnberg, Dominik Seelow, Shazia Ashraf, 2009, PLoS genetics.

Basal body dysfunction is a likely cause of pleiotropic Bardet–Biedl syndrome

Tanya M. Teslovich, Stephen J. Ansley, Bethan E. Hoskins, 2003, Nature.

Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible

Peter Nürnberg, Thomas Gudermann, Dominik Seelow, 2006, Nature Genetics.

Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy.

Bethan E. Hoskins, D. Seelow, H. Prokisch, 2010, The Journal of clinical investigation.

of papers presented at the fourteenth Genetics Society’s Mammalian Genetics and Development Workshop held at the Institute of Child Health, University College London on 3 and 4 2003

Bethan E. Hoskins, N. Katsanis, P. Keightley, 2004 .

Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome.

Bethan E. Hoskins, J. Lupski, P. Scambler, 2003, American journal of human genetics.

Identification of BRAF as a new interactor of PLCε1, the protein mutated in nephrotic syndrome type 3

Bethan E. Hoskins, H. Chaib, F. Hildebrandt, 2008 .

Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus.

Bethan E. Hoskins, D. Cutler, R. Lewis, 2003, Human molecular genetics.

Triallelic Inheritance in Bardet-Biedl Syndrome, a Mendelian Recessive Disorder

Bethan E. Hoskins, J. Lupski, P. Scambler, 2001, Science.

Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy (Journal of Clinical Investigation (2010) 120, 3 (791-802) DOI: 10.1172/JCI40076)

Bethan E. Hoskins, D. Seelow, H. Prokisch, 2010 .

Genetic and clinical characterization of Pakistani families with Bardet-Biedl syndrome extends the genetic and phenotypic spectrum

Bethan E. Hoskins, R. Roepman, E. van Wijk, 2016, Scientific Reports.

Identification of two novel CAKUT-causing genes by massively parallel exon resequencing of candidate genes in patients with unilateral renal agenesis.

Bethan E. Hoskins, V. Tasic, F. Hildebrandt, 2012, Kidney international.

The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression

Bethan E. Hoskins, N. Katsanis, J. Badano, 2004, Nature Genetics.

Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse

Bethan E. Hoskins, Nicholas Katsanis, J. Lupski, 2004, Nature Genetics.

Mutations in PLCE1 are a major cause of isolated diffuse mesangial sclerosis (IDMS).

Bethan E. Hoskins, C. Antignac, F. Hildebrandt, 2007, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders.

Bethan E. Hoskins, A. Bakkaloğlu, F. Hildebrandt, 2006, Kidney international.

Risk Factors for Severe Renal Disease in Bardet-Biedl Syndrome.

Bethan E. Hoskins, P. Beales, D. Milford, 2017, Journal of the American Society of Nephrology : JASN.

Genetic and clinical characterization of Pakistani families with Bardet-Biedl syndrome extends the genetic and phenotypic spectrum

Bethan E. Hoskins, R. Roepman, E. van Wijk, 2016, Scientific Reports.

Genetic predictors of cardiovascular morbidity in Bardet–Biedl syndrome

Bethan E. Hoskins, B. Hoskins, S. Mohammed, 2014, Clinical genetics.

Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria

Bethan E. Hoskins, A. Reymond, S. Ellard, 2022, Human molecular genetics.

Biallelic P4HTM variants associated with HIDEA syndrome and mitochondrial respiratory chain complex I deficiency

Bethan E. Hoskins, M. Samuels, S. Rahman, 2021, European Journal of Human Genetics.