S. P. Taylor

发表

Destabilization of the IFT-B cilia core complex due to mutations in IFT81 causes a Spectrum of Short-Rib Polydactyly Syndrome

D. Nickerson, M. Bamshad, D. Krakow, 2016, Scientific Reports.

Mutations in GRK2 cause Jeune syndrome by impairing Hedgehog and canonical Wnt signaling

D. Nickerson, M. Bamshad, I. Thiffault, 2020, EMBO molecular medicine.

Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia

D. Nickerson, M. Bamshad, D. Krakow, 2017, Cilia.

Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome

S. Nelson, R. Vallee, Sulin Wu, 2015, Nature Communications.

Mutations in DYNC2H1, the cytoplasmic dynein 2, heavy chain 1 motor protein gene, cause short‐rib polydactyly type I, Saldino–Noonan type

D. Nickerson, M. Bamshad, D. Krakow, 2017, Clinical genetics.

Correction: Corrigendum: The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery

E. Marcotte, Tae Joo Park, J. Wallingford, 2016, Nature Genetics.

Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies

D. Nickerson, M. Bamshad, D. Krakow, 2018, Human mutation.

IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome.

D. Nickerson, M. Bamshad, D. Krakow, 2016, Human molecular genetics.

Collagen duplicate genes of bone and cartilage participate during regeneration of zebrafish fin skeleton.

D. Krakow, A. Bombarely, J. Becerra, 2015, Gene expression patterns : GEP.

Rich annotation of DNA sequencing variants by leveraging the Ensembl Variant Effect Predictor with plugins

Aliz R. Rao, Stanley F. Nelson, Michael Yourshaw, 2015, Briefings Bioinform..

The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery

E. Marcotte, Tae Joo Park, J. Wallingford, 2016, Nature Genetics.

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

Gail Clement, Jie Huang, Inês Barroso, 2016, Nature Communications.

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

Tom R. Gaunt, Thomas M. Keane, Colin A. Johnson, 2015, Nature Communications.

An inactivating mutation in intestinal cell kinase, ICK, impairs hedgehog signalling and causes short rib-polydactyly syndrome.

D. Nickerson, M. Bamshad, A. Hampl, 2016, Human molecular 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 .