P. Beales

发表

Dental Anomalies in Ciliopathies: Lessons from Patients with BBS2, BBS7, and EVC2 Mutations

P. Kitcher, K. Katanyuwong, S. Tongsima, 2022, Genes.

New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey

P. Beales, A. Woolf, F. Flinter, 1999, Journal of medical genetics.

Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates

J. Lupski, S. Fisher, D. Jagger, 2005, Nature Genetics.

TCTEX1D2 mutations underlie Jeune asphyxiating thoracic TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport dystrophy with impaired retrograde intraflagellar transport

Colin A. Johnson, P. Scambler, S. Letteboer, 2021 .

Ciliopathies: Their Role in Pediatric Renal Disease

P. Beales, M. Schmidts, Philip L. Beales, 2016 .

Identification and validation of loss of function variants in clinical contexts

P. Beales, F. Lescai, C. Bacchelli, 2014, Molecular genetics & genomic medicine.

Identification and Validation of Loss of Function Variants in Clinical Contexts

F. Lescai, C. Bacchelli, P. Stanier, 2022 .

Exploring the molecular basis of Bardet-Biedl syndrome.

J. Lupski, N. Katsanis, P. Beales, 2001, Human molecular genetics.

Cranioectodermal Dysplasia, Sensenbrenner Syndrome, Is a Ciliopathy Caused by Mutations in the IFT122 Gene

R. Hennekam, A. Latos-Bieleńska, H. Ropers, 2022 .

Combined exome and whole-genome sequencing identi fi es mutations in ARMC 4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm

Richard D Emes, P. Scambler, G. Pals, 2013 .

Bardet-Biedl syndrome: a molecular and phenotypic study of 18 families.

G. Hitman, P. Beales, R. Thakker, 1997, Journal of medical genetics.

Mutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralization.

J. Goodship, S. Twigg, S. McGowan, 2012, American journal of human genetics.

The Lowe syndrome protein OCRL1 is involved in primary cilia assembly

D. Mukherjee, M. Lowe, Claudia B. Hanna, 2012, Cilia.

The Lowe syndrome protein OCRL1 is involved in primary cilia assembly.

P. Beales, D. Mukherjee, R. C. Aguilar, 2012, Human molecular genetics.

Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene.

R. Hennekam, A. Latos-Bieleńska, H. Ropers, 2010, American journal of human genetics.

The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes

Colin A. Johnson, M. Hubank, E. Stupka, 2015, Journal of Medical Genetics.