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Daniel Cohn
Daniel Cohn
Verified email at mcdb.ucla.edu - Homepage
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Cited by
Year
Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and …
JC Marini, A Forlino, WA Cabral, AM Barnes, JD San Antonio, S Milgrom, ...
Human mutation 28 (3), 209-221, 2007
7832007
Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3
PL Tavormina, R Shiang, LM Thompson, YZ Zhu, DJ Wilkin, RS Lachman, ...
Nature genetics 9 (3), 321-328, 1995
6901995
Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene
MD Briggs, SMG Hoffman, LM King, AS Olsen, H Mohrenweiser, JG Leroy, ...
Nature genetics 10 (3), 330-336, 1995
5791995
Nosology and classification of genetic skeletal disorders: 2019 revision
GR Mortier, DH Cohn, V Cormier‐Daire, C Hall, D Krakow, S Mundlos, ...
American journal of medical genetics Part A 179 (12), 2393-2419, 2019
5562019
Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene
A Colige, AL Sieron, SW Li, U Schwarze, E Petty, W Wertelecki, W Wilcox, ...
The American Journal of Human Genetics 65 (2), 308-317, 1999
4381999
Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis
Y Gong, D Krakow, J Marcelino, D Wilkin, D Chitayat, R Babul-Hirji, ...
Nature genetics 21 (3), 302-304, 1999
3911999
WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta
CM Laine, KS Joeng, PM Campeau, R Kiviranta, K Tarkkonen, M Grover, ...
New England Journal of Medicine 368 (19), 1809-1816, 2013
3832013
Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta
Y Alanay, H Avaygan, N Camacho, GE Utine, K Boduroglu, D Aktas, ...
The American Journal of Human Genetics 86 (4), 551-559, 2010
3622010
A type X collagen mutation causes Schmid metaphyseal chondrodysplasia
ML Warman, M Abbott, SS Apte, T Hefferon, I McIntosh, DH Cohn, ...
Nature genetics 5 (1), 79-82, 1993
3171993
Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis
D Krakow, SP Robertson, LM King, T Morgan, ET Sebald, C Bertolotto, ...
Nature genetics 36 (4), 405-410, 2004
3062004
Neoplastic progression occurs through mutator pathways in hyperplastic polyposis of the colorectum
JR Jass, H Iino, A Ruszkiewicz, D Painter, MJ Solomon, DJ Koorey, ...
Gut 47 (1), 43-49, 2000
3042000
Procollagen II amino propeptide processing by ADAMTS-3: insights on dermatosparaxis
RJ Fernandes, S Hirohata, JM Engle, A Colige, DH Cohn, DR Eyre, ...
Journal of Biological Chemistry 276 (34), 31502-31509, 2001
2892001
Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia
MJ Rock, J Prenen, VA Funari, TL Funari, B Merriman, SF Nelson, ...
Nature genetics 40 (8), 999-1003, 2008
2552008
CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta
D Baldridge, U Schwarze, R Morello, J Lennington, TK Bertin, JM Pace, ...
Human mutation 29 (12), 1435-1442, 2008
2522008
Bacterial Bioluminescence: Isolation and Expression of the Luciferase Genes from Vibrio harveyi
R Belas, A Mileham, D Cohn, M Hilman, M Simon, M Silverman
Science 218 (4574), 791-793, 1982
2481982
Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene
A Superti-Furga, J Hästbacka, WR Wilcox, DH Cohn, HJ van der Harten, ...
Nature genetics 12 (1), 100-102, 1996
2331996
Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia
D Krakow, J Vriens, N Camacho, P Luong, H Deixler, TL Funari, ...
The American Journal of Human Genetics 84 (3), 307-315, 2009
2192009
Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia–multiple epiphyseal dysplasia disease spectrum
MD Briggs, GR Mortier, WG Cole, LM King, SS Golik, J Bonaventure, ...
The American Journal of Human Genetics 62 (2), 311-319, 1998
2121998
Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias.
J Hästbacka, A Superti-Furga, WR Wilcox, DL Rimoin, DH Cohn, ...
American journal of human genetics 58 (2), 255, 1996
2091996
Mutations in SERPINF1 cause osteogenesis imperfecta type VI
EP Homan, F Rauch, I Grafe, C Lietman, JA Doll, B Dawson, T Bertin, ...
Journal of bone and mineral research 26 (12), 2798-2803, 2011
2082011
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