Affiliations

Professor, Molecular, Cell, and Developmental Biology, Orthopaedic Surgery

Publications

A selected list of publications:

• Lee Hane, Graham John M, Rimoin David L, Lachman Ralph S, Krejci Pavel, Tompson Stuart W, Nelson Stanley F, Krakow Deborah, Cohn Daniel H   Exome sequencing identifies PDE4D mutations in acrodysostosis American journal of human genetics, 2012; 90(4): 746-51.
• Tompson Stuart W, Faqeih Eissa Ali, Ala-Kokko Leena, Hecht Jacqueline T, Miki Rika, Funari Tara, Funari Vincent A, Nevarez Lisette, Krakow Deborah, Cohn Daniel H   Dominant and recessive forms of fibrochondrogenesis resulting from mutations at a second locus, COL11A2 American journal of medical genetics. Part A, 2012; 158A(2): 309-14.
• Homan Erica P, Rauch Frank, Grafe Ingo, Lietman Caressa, Doll Jennifer A, Dawson Brian, Bertin Terry, Napierala Dobrawa, Morello Roy, Gibbs Richard, White Lisa, Miki Rika, Cohn Daniel H, Crawford Susan, Travers Rose, Glorieux Francis H, Lee Brendan   Mutations in SERPINF1 cause osteogenesis imperfecta type VI Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research, 2011; 26(12): 2798-803.
• Tompson Stuart W, Bacino Carlos A, Safina Nicole P, Bober Michael B, Proud Virginia K, Funari Tara, Wangler Michael F, Nevarez Lisette, Ala-Kokko Leena, Wilcox William R, Eyre David R, Krakow Deborah, Cohn Daniel H   Fibrochondrogenesis results from mutations in the COL11A1 type XI collagen gene American journal of human genetics, 2010; 87(5): 708-12.
• Funari Vincent A, Krakow Deborah, Nevarez Lisette, Chen Zugen, Funari Tara L, Vatanavicharn Nithiwat, Wilcox William R, Rimoin David L, Nelson Stanley F, Cohn Daniel H   BMPER mutation in diaphanospondylodysostosis identified by ancestral autozygosity mapping and targeted high-throughput sequencing American journal of human genetics, 2010; 87(4): 532-7.
• Camacho Natalia, Krakow Deborah, Johnykutty Sharlin, Katzman Philip J, Pepkowitz Samuel, Vriens Joris, Nilius Bernd, Boyce Brendan F, Cohn Daniel H   Dominant TRPV4 mutations in nonlethal and lethal metatropic dysplasia American journal of medical genetics. Part A, 2010; 152A(5): 1169-77.
• Alanay Yasemin, Avaygan Hrispima, Camacho Natalia, Utine G Eda, Boduroglu Koray, Aktas Dilek, Alikasifoglu Mehmet, Tuncbilek Ergul, Orhan Diclehan, Bakar Filiz Tiker, Zabel Bernard, Superti-Furga Andrea, Bruckner-Tuderman Leena, Curry Cindy J R, Pyott Shawna, Byers Peter H, Eyre David R, Baldridge Dustin, Lee Brendan, Merrill Amy E, Davis Elaine C, Cohn Daniel H, Akarsu Nurten, Krakow Deborah   Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta American journal of human genetics, 2010; 86(4): 551-9.
• Smits Patrick, Bolton Andrew D, Funari Vincent, Hong Minh, Boyden Eric D, Lu Lei, Manning Danielle K, Dwyer Noelle D, Moran Jennifer L, Prysak Mary, Merriman Barry, Nelson Stanley F, Bonafé Luisa, Superti-Furga Andrea, Ikegawa Shiro, Krakow Deborah, Cohn Daniel H, Kirchhausen Tom, Warman Matthew L, Beier David R   Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210 The New England journal of medicine, 2010; 362(3): 206-16.
• Merrill Amy E, Merriman Barry, Farrington-Rock Claire, Camacho Natalia, Sebald Eiman T, Funari Vincent A, Schibler Matthew J, Firestein Marc H, Cohn Zachary A, Priore Mary Ann, Thompson Alicia K, Rimoin David L, Nelson Stanley F, Cohn Daniel H, Krakow Deborah   Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome American journal of human genetics, 2009; 84(4): 542-9.
• Krakow Deborah, Vriens Joris, Camacho Natalia, Luong Phi, Deixler Hannah, Funari Tara L, Bacino Carlos A, Irons Mira B, Holm Ingrid A, Sadler Laurie, Okenfuss Ericka B, Janssens Annelies, Voets Thomas, Rimoin David L, Lachman Ralph S, Nilius Bernd, Cohn Daniel H   Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia American journal of human genetics, 2009; 84(3): 307-15.
• Tompson Stuart W, Merriman Barry, Funari Vincent A, Fresquet Maryline, Lachman Ralph S, Rimoin David L, Nelson Stanley F, Briggs Michael D, Cohn Daniel H, Krakow Deborah   A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the C-type lectin domain of aggrecan American journal of human genetics, 2009; 84(1): 72-9.
• Rock Matthew J, Prenen Jean, Funari Vincent A, Funari Tara L, Merriman Barry, Nelson Stanley F, Lachman Ralph S, Wilcox William R, Reyno Soraya, Quadrelli Roberto, Vaglio Alicia, Owsianik Grzegorz, Janssens Annelies, Voets Thomas, Ikegawa Shiro, Nagai Toshiro, Rimoin David L, Nilius Bernd, Cohn Daniel H   Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia Nature genetics, 2008; 40(8): 999-1003.
• Funari Vincent A, Day Allen, Krakow Deborah, Cohn Zachary A, Chen Zugen, Nelson Stanley F, Cohn Daniel H   Cartilage-selective genes identified in genome-scale analysis of non-cartilage and cartilage gene expression BMC genomics, 2007; 8(11): 165.