B. Hoskins

发表

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

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

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.

Performance evaluation of a particle-enhanced turbidimetric cystatin C assay using the Abbott Aeroset analyser and assessment of cystatin C-based equations for estimating glomerular filtration rate in chronic kidney disease

H. Chaib, F. Hildebrandt, B. Hoskins, 2010 .

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.

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.

Mutation analysis of the Uromodulin gene in 96 individuals with urinary tract anomalies (CAKUT)

V. Tasic, F. Hildebrandt, B. Hoskins, 2009, Pediatric Nephrology.

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.

Arrayed primer extension technology simplifies mutation detection in Bardet–Biedl and Alström syndrome

J. Naggert, N. Katsanis, P. Beales, 2011, European Journal of Human Genetics.

Mutations in the Wilms' Tumor 1 Gene Cause Isolated Steroid Resistant Nephrotic Syndrome and Occur in Exons 8 and 9

F. Hildebrandt, B. Hoskins, B. Hinkes, 2006, Pediatric Research.

Missense mutations in EYA1 and TCF2 are a rare cause of urinary tract malformations.

V. Tasic, F. Hildebrandt, B. Hoskins, 2007, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome.

F. Hildebrandt, S. Heeringa, G. Chernin, 2008, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Evaluation of multiplex capillary heteroduplex analysis: A rapid and sensitive mutation screening technique

P. Scambler, P. Beales, B. Hoskins, 2003, Human mutation.

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

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

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.

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

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

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.

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.

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

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

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.

Mapping of a new locus for congenital anomalies of the kidney and urinary tract on chromosome 8q24.

H. Chaib, F. Hildebrandt, B. Hoskins, 2010, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance.

J. Lupski, P. Scambler, R. Lewis, 2002, American journal of human genetics.

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

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

The molecular and functional genetics of Bardet-Biedl Syndrome

B. Hoskins, 2005 .

Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome.

Friedhelm Hildebrandt, Christine Petit, C. Petit, 2007, American journal of human genetics.

Regulation of neuroblast competence in Drosophila

Tanya M. Teslovich, R. Lewis, N. Katsanis, 2022 .

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 .

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.

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.

Genetic predictors of cardiovascular morbidity in Bardet–Biedl syndrome

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