Functional analysis of new human Bardet-Biedl syndrome loci specific variants in the zebrafish model.

Sci Rep     Sheila Castro-Sánchez , Paula Suarez-Bregua , Rossina Novas , María Álvarez-Satta , Jose L Badano , Josep Rotllant , Diana Valverde

Nuclear/cytoplasmic transport defects in BBS6 underlie congenital heart disease through perturbation of a chromatin remodeling protein.

PLoS Genet     Charles Anthony Scott , Autumn N Marsden , Michael R Rebagliati , Qihong Zhang , Xitiz Chamling , Charles C Searby , Lisa M Baye , Val C Sheffield , Diane C Slusarski

Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis.

J Clin Invest     Rivka A Rachel , Helen L May-Simera , Shobi Veleri , Norimoto Gotoh , Byung Yoon Choi , Carlos Murga-Zamalloa , Jeremy C McIntyre , Jonah Marek , Irma Lopez , Alice N Hackett , Jun Zhang , Matthew Brooks , Anneke I den Hollander , Philip L Beales , Tiansen Li , Samuel G Jacobson , Raman Sood , Jeffrey R Martens , Paul Liu , Thomas B Friedman , Hemant Khanna , Robert K Koenekoop , Matthew W Kelley , Anand Swaroop

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium.

Brief. Bioinformatics     Pascale Gaudet , Michael S Livstone , Suzanna E Lewis , Paul D Thomas

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.

Nat Genet     Erica E Davis , Qi Zhang , Qin Liu , Bill H Diplas , Lisa M Davey , Jane Hartley , Corinne Stoetzel , Katarzyna Szymanska , Gokul Ramaswami , Clare V Logan , Donna M Muzny , Alice C Young , David A Wheeler , Pedro Cruz , Margaret Morgan , Lora R Lewis , Praveen Cherukuri , Baishali Maskeri , Nancy F Hansen , James C Mullikin , Robert W Blakesley , Gerard G Bouffard , NISC Comparative Sequencing Program , Gabor Gyapay , Susanne Rieger , Burkhard Tönshoff , Ilse Kern , Neveen A Soliman , Thomas J Neuhaus , Kathryn J Swoboda , Hulya Kayserili , Tomas E Gallagher , Richard A Lewis , Carsten Bergmann , Edgar A Otto , Sophie Saunier , Peter J Scambler , Philip L Beales , Joseph G Gleeson , Eamonn R Maher , Tania Attié-Bitach , Hélène Dollfus , Colin A Johnson , Eric D Green , Richard A Gibbs , Friedhelm Hildebrandt , Eric A Pierce , Nicholas Katsanis

Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome.

Proc Natl Acad Sci U S A     Norann A Zaghloul , Yangjian Liu , Jantje M Gerdes , Cecilia Gascue , Edwin C Oh , Carmen C Leitch , Yana Bromberg , Jonathan Binkley , Rudolph L Leibel , Arend Sidow , Jose L Badano , Nicholas Katsanis

Genetic interaction between Bardet-Biedl syndrome genes and implications for limb patterning.

Hum. Mol. Genet.     Marwan K Tayeh , Hsan-Jan Yen , John S Beck , Charles C Searby , Trudi A Westfall , Hilary Griesbach , Val C Sheffield , Diane C Slusarski

Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome.

Nat. Genet.     Carmen C Leitch , Norann A Zaghloul , Erica E Davis , Corinne Stoetzel , Anna Diaz-Font , Suzanne Rix , Majid Alfadhel , Majid Al-Fadhel , Richard Alan Lewis , Wafaa Eyaid , Eyal Banin , Helene Dollfus , Philip L Beales , Jose L Badano , Nicholas Katsanis

Disruption of the basal body compromises proteasomal function and perturbs intracellular Wnt response.

Nat Genet     Jantje M Gerdes , Yangfan Liu , Norann A Zaghloul , Carmen C Leitch , Shaneka S Lawson , Masaki Kato , Philip A Beachy , Philip L Beales , George N DeMartino , Shannon Fisher , Jose L Badano , Nicholas Katsanis

Identification of zygotic genes expressed at the midblastula transition in zebrafish.

Biochem. Biophys. Res. Commun.     Shaun O'Boyle , Ronan T Bree , Sarah McLoughlin , Maura Grealy , Lucy Byrnes