Philip Beales

Publications (79) View all

• Article: Clinical utility gene card for: Bardet-Biedl syndrome.

  Anne Slavotinek, Philip Beales
  European journal of human genetics: EJHG 03/2011; 19(3). · 3.56 Impact Factor
• Article: Neocortical and hippocampal volume loss in a human ciliopathy: A quantitative MRI study in Bardet-Biedl syndrome.

  Kate Baker, Gemma B Northam, W K Chong, Tina Banks, Philip Beales, Torsten Baldeweg
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  ABSTRACT: Cilia are ubiquitous cell surface organelles with diverse roles from embryogenesis to adult life. The neurodevelopmental functions of the cilium are currently under investigation in animal systems, but relevance to human brain development remains uncertain. We present the first systematic investigation of structural neuroanatomy in a ciliopathy-Bardet-Biedl syndrome (BBS). Qualitative and quantitative aspects of brain structure were evaluated via magnetic resonance imaging in 10 patients with BBS (ages 14-28 years). In comparison to age and gender-matched healthy controls, BBS patients had significantly reduced total gray matter (GM) volume but no total white matter (WM) or cerebrospinal fluid volume changes. Voxel-based morphometric analysis indicated regional GM volume loss bilaterally in the anterior temporal lobes and in the medial orbitofrontal cortex, and WM volume loss in the right inferior longitudinal fasciculus. Region-of-interest measurements revealed reduced volume of the hippocampus. Two patients were found to have ventriculomegaly. Global GM reduction and regional volume reductions in the temporal lobe may underlie the learning disabilities and behavioral problems experienced by some patients with BBS. These findings are consistent with previous observations in mouse models of BBS, and further implicate the cilium in neurodevelopmental processes relevant to human cognitive function.
  American Journal of Medical Genetics Part A 01/2011; 155A(1):1-8. · 2.39 Impact Factor
• Article: Corrigendum to Obesity Syndrome, MOMES Caused by Deletion-Duplication (4q35.1 del and 5p14.3 Duplication) AJMG Part A, 2009; 149(4): 833-834.

  Mieke M van Haelst, Rubin Wang, Piranit N Kantaputra, Rodger Palmer, Philip Beales
  American Journal of Medical Genetics Part A 06/2010; 152A(7):1874. · 2.39 Impact Factor
• Source

  Available from: Heather Corbett Etchevers

  Dataset: de Pontual et al. RET-BBS PNAS 2009 SI

  Loïc de Pontual, Norann A Zaghloul, Sophie Thomas, Erica E Davis, David M McGaughey, Hélène Dollfus, Clarisse Baumann, Seneca L Bessling, Candice Babarit, Anna Pelet, Cecilia Gascue, Philip Beales, Arnold Munnich, Stanislas Lyonnet, Heather Etchevers, Tania Attie-Bitach, Jose L Badano, Andrew S McCallion, Nicholas Katsanis, Jeanne Amiel
• Source

  Available from: Heather Corbett Etchevers

  Article: Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease.

  Loïc de Pontual, Norann A Zaghloul, Sophie Thomas, Erica E Davis, David M McGaughey, Hélène Dollfus, Clarisse Baumann, Seneca L Bessling, Candice Babarit, Anna Pelet, Cecilia Gascue, Philip Beales, Arnold Munnich, Stanislas Lyonnet, Heather Etchevers, Tania Attie-Bitach, Jose L Badano, Andrew S McCallion, Nicholas Katsanis, Jeanne Amiel
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  ABSTRACT: Hirschsprung disease (HSCR) is a common, multigenic neurocristopathy characterized by incomplete innervation along a variable length of the gut. The pivotal gene in isolated HSCR cases, either sporadic or familial, is RET. HSCR also presents in various syndromes, including Shah-Waardenburg syndrome (WS), Down (DS), and Bardet-Biedl (BBS). Here, we report 3 families with BBS and HSCR with concomitant mutations in BBS genes and regulatory RET elements, whose functionality is tested in physiologically relevant assays. Our data suggest that BBS mutations can potentiate HSCR predisposing RET alleles, which by themselves are insufficient to cause disease. We also demonstrate that these genes interact genetically in vivo to modulate gut innervation, and that this interaction likely occurs through complementary, yet independent, pathways that converge on the same biological process.
  Proceedings of the National Academy of Sciences 08/2009; 106(33):13921-6. · 9.68 Impact Factor