Burrage, Lindsay C.; Reynolds, John J.; Baratang, Nissan Vida; Phillips, Jennifer B.; Wegner, Jeremy; McFarquhar, Ashley; Higgs, Martin R.; Christiansen, Audrey E.; Lanza, Denise G.; Seavitt, John R.; Jain, Mahim; Li, Xiaohui; Parry, David A.; Raman, Vandana; Chitayat, David; Chinn, Ivan K.; Bertuch, Alison A.; Karaviti, Lefkothea; Schlesinger, Alan E.; Earl, Dawn; Bamshad, Michael; Savarirayan, Ravi; Doddapaneni, Harsha; Muzny, Donna; Jhangiani, Shalini N.; Eng, Christine M.; Gibbs, Richard A.; Bi, Weimin; Emrick, Lisa; Rosenfeld, Jill A.; Postlethwait, John; Westerfield, Monte; Dickinson, Mary E.; Beaudet, Arthur L.; Ranza, Emmanuelle; Huber, Celine; Cormier-Daire, Valerie; Shen, Wei; Mao, Rong; Heaney, Jason D.; Orange, I. Jordan S.; Bertola, Debora; Yamamoto, Guilherme L.; Baratela, Wagner Ar; Butler, Merlin G.; Ali, Asim; Adeli, Mehdi; Cohn, Daniel H.; Krakow, Deborah; Jackson, Andrew P.; Lees, Melissa; Offiah, Amaka C.; Carlston, Colleen M.; Carey, John C.; Stewart, Grant S.; Bacino, Carlos A.; Campeau, Philippe M.; Lee, Brendan

The PTH/PTHrP-SIK3 pathway affects skeletogenesis through altered mTOR signaling

SCIENCE TRANSLATIONAL MEDICINE

IF14.6

2018-09-1938

OAAI

Genes uniquely expressed in human growth plate chondrocytes uncover a distinct regulatory network

在人类生长板软骨细胞中独特表达的基因揭示了一个独特的调控网络

BMC GENOMICS

IF3.7

2017-12-2014

OAAI

Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies

扩大骨骼纤毛病的遗传结构和表型谱

HUMAN MUTATION

IF3.7

2017-11-0691

OAAI

A Chaperone Complex Formed by HSP47, FKBP65, and BiP Modulates Telopeptide Lysyl Hydroxylation of Type I Procollagen

JOURNAL OF BONE AND MINERAL RESEARCH

IF5.9

2017-04-0654

OAAI

Loss of DDRGK1 modulates SOX9 ubiquitination in spondyloepimetaphyseal dysplasia

DDRGK1的丧失调节了脊柱干phy端发育不良中SOX9的泛素化

JOURNAL OF CLINICAL INVESTIGATION

IF13.6

2017-03-0647

A postnatal role for embryonic myosin revealed by MYH3 mutations that alter TGFβ signaling and cause autosomal dominant spondylocarpotarsal synostosis

SCIENTIFIC REPORTS

IF3.9

2017-02-1633

OAAI

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

SCIENTIFIC REPORTS

IF3.9

2016-09-2641

OAAI

Altered mRNA Splicing, Chondrocyte Gene Expression and Abnormal Skeletal Development due to SF3B4 Mutations in Rodriguez Acrofacial Dysostosis

PLOS GENETICS

IF3.7

2016-09-1340

OAAI

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

HUMAN MOLECULAR GENETICS

IF3.2

2016-07-2741

OAAI

The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery (vol 48, pg 648, 2016)

NATURE GENETICS

IF31.8

2016-07-271

OAAI

Toriyama, Michinori; Lee, Chanjae; Taylor, S. Paige; Duran, Ivan; Cohn, Daniel H.; Bruel, Ange-Line; Tabler, Jacqueline M.; Drew, Kevin; Kelly, Marcus R.; Kim, Sukyoung; Park, Tae Joo; Braun, Daniela A.; Pierquin, Ghislaine; Biver, Armand; Wagner, Kerstin; Malfroot, Anne; Panigrahi, Inusha; Franco, Brunella; Al-Lami, Hadeel Adel; Yeung, Yvonne; Choi, Yeon Ja; Duffourd, Yannis; Faivre, Laurence; Riviere, Jean-Baptiste; Chen, Jiang; Liu, Karen J.; Marcotte, Edward M.; Hildebrandt, Friedhelm; Thauvin-Robinet, Christel; Krakow, Deborah; Jackson, Peter K.; Wallingford, John B.

Daniel H. Cohn

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