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Erica E Davis
Erica E Davis
Lurie Children's Hospital and Northwestern University
E-mailová adresa ověřena na: luriechildrens.org
Název
Citace
Citace
Rok
The vertebrate primary cilium in development, homeostasis, and disease
JM Gerdes, EE Davis, N Katsanis
Cell 137 (1), 32-45, 2009
8612009
Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome
CC Leitch, NA Zaghloul, EE Davis, C Stoetzel, A Diaz-Font, S Rix, ...
Nature genetics 40 (4), 443-448, 2008
4822008
RNAi-mediated allelic trans-interaction at the imprinted Rtl1/Peg11 locus
E Davis, F Caiment, X Tordoir, J Cavaillé, A Ferguson-Smith, N Cockett, ...
Current Biology 15 (8), 743-749, 2005
4222005
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum
EE Davis, Q Zhang, Q Liu, BH Diplas, LM Davey, J Hartley, C Stoetzel, ...
Nature genetics 43 (3), 189-196, 2011
4212011
CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs
AC Merveille, EE Davis, A Becker-Heck, M Legendre, I Amirav, G Bataille, ...
Nature genetics 43 (1), 72-78, 2011
3922011
The ciliary proteome database: an integrated community resource for the genetic and functional dissection of cilia
A Gherman, EE Davis, N Katsanis
Nature genetics 38 (9), 961-962, 2006
3552006
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus
C Stoetzel, V Laurier, EE Davis, J Muller, S Rix, JL Badano, CC Leitch, ...
Nature genetics 38 (5), 521-524, 2006
3522006
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes
EM Valente, CV Logan, S Mougou-Zerelli, JH Lee, JL Silhavy, F Brancati, ...
Nature genetics 42 (7), 619-625, 2010
3452010
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies
H Khanna, EE Davis, CA Murga-Zamalloa, A Estrada-Cuzcano, I Lopez, ...
Nature genetics 41 (6), 739-745, 2009
3102009
Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome
C Stoetzel, J Muller, V Laurier, EE Davis, NA Zaghloul, S Vicaire, ...
The American Journal of Human Genetics 80 (1), 1-11, 2007
2992007
CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290
NT Gorden, HH Arts, MA Parisi, KLM Coene, SJF Letteboer, ...
The American Journal of Human Genetics 83 (5), 559-571, 2008
2782008
KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes
A Putoux, S Thomas, KLM Coene, EE Davis, Y Alanay, G Ogur, E Uz, ...
Nature genetics 43 (6), 601-606, 2011
2672011
An organelle-specific protein landscape identifies novel diseases and molecular mechanisms
K Boldt, J Van Reeuwijk, Q Lu, K Koutroumpas, TMT Nguyen, Y Texier, ...
Nature communications 7 (1), 11491, 2016
2582016
Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans
J Halbritter, AA Bizet, M Schmidts, JD Porath, DA Braun, HY Gee, ...
The American Journal of Human Genetics 93 (5), 915-925, 2013
2492013
A cross-disorder dosage sensitivity map of the human genome
RL Collins, JT Glessner, E Porcu, M Lepamets, R Brandon, C Lauricella, ...
Cell 185 (16), 3041-3055. e25, 2022
2432022
TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone
L Huang, K Szymanska, VL Jensen, AR Janecke, AM Innes, EE Davis, ...
The American Journal of Human Genetics 89 (6), 713-730, 2011
2362011
The ciliopathies: a transitional model into systems biology of human genetic disease
EE Davis, N Katsanis
Current opinion in genetics & development 22 (3), 290-303, 2012
1852012
Pitchfork regulates primary cilia disassembly and left-right asymmetry
D Kinzel, K Boldt, EE Davis, I Burtscher, D Trümbach, B Diplas, ...
Developmental cell 19 (1), 66-77, 2010
1772010
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome
ND Shaw, H Brand, ZA Kupchinsky, H Bengani, L Plummer, TI Jones, ...
Nature genetics 49 (2), 238-248, 2017
1752017
ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry
R Hjeij, A Lindstrand, R Francis, MA Zariwala, X Liu, Y Li, R Damerla, ...
The American Journal of Human Genetics 93 (2), 357-367, 2013
1752013
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Články 1–20