Παρακολούθηση
Kate Chandler
Kate Chandler
Consultant Clinical geneticist
Η διεύθυνση ηλεκτρονικού ταχυδρομείου έχει επαληθευτεί στον τομέα cmft.nhs.uk
Τίτλος
Παρατίθεται από
Παρατίθεται από
Έτος
Prevalence and architecture of de novo mutations in developmental disorders
Nature 542 (7642), 433-438, 2017
8802017
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutieres syndrome and mimic congenital viral brain infection
YJ Crow, A Leitch, BE Hayward, A Garner, R Parmar, E Griffith, M Ali, ...
Nature genetics 38 (8), 910-916, 2006
7612006
Large-scale discovery of novel genetic causes of developmental disorders
Nature 519 (7542), 223-228, 2015
7442015
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1
YJ Crow, DS Chase, J Lowenstein Schmidt, M Szynkiewicz, GMA Forte, ...
American journal of medical genetics Part A 167 (2), 296-312, 2015
5612015
Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study
J Lord, DJ McMullan, RY Eberhardt, G Rinck, SJ Hamilton, ...
The Lancet 393 (10173), 747-757, 2019
4932019
Clinical and molecular phenotype of Aicardi-Goutieres syndrome
G Rice, T Patrick, R Parmar, CF Taylor, A Aeby, J Aicardi, R Artuch, ...
The American Journal of Human Genetics 81 (4), 713-725, 2007
4652007
Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport
J Kolehmainen, GCM Black, A Saarinen, K Chandler, J Clayton-Smith, ...
The American Journal of Human Genetics 72 (6), 1359-1369, 2003
4482003
Assessment of interferon-related biomarkers in Aicardi-Goutieres syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study
GI Rice, GMA Forte, M Szynkiewicz, DS Chase, A Aeby, MS Abdel-Hamid, ...
The lancet neurology 12 (12), 1159-1169, 2013
4222013
Age and causes of death in adult-onset myotonic dystrophy.
CE de Die-Smulders, CJ Höweler, C Thijs, JF Mirandolle, HB Anten, ...
Brain: a journal of neurology 121 (8), 1557-1563, 1998
3251998
Clinical delineation and natural history of the PIK3CA‐related overgrowth spectrum
KM Keppler‐Noreuil, JC Sapp, MJ Lindhurst, VER Parker, C Blumhorst, ...
American journal of medical genetics Part A 164 (7), 1713-1733, 2014
3022014
Mutations in DDX3X are a common cause of unexplained intellectual disability with gender-specific effects on Wnt signaling
LS Blok, E Madsen, J Juusola, C Gilissen, D Baralle, MRF Reijnders, ...
The American Journal of Human Genetics 97 (2), 343-352, 2015
2702015
C offin–S iris syndrome and the BAF complex: Genotype–phenotype Study in 63 patients
GWE Santen, E Aten, AT Vulto‐van Silfhout, C Pottinger, BWM van Bon, ...
Human mutation 34 (11), 1519-1528, 2013
2292013
Histone lysine methylases and demethylases in the landscape of human developmental disorders
V Faundes, WG Newman, L Bernardini, N Canham, J Clayton-Smith, ...
The American Journal of Human Genetics 102 (1), 175-187, 2018
2052018
Canine epilepsy: what can we learn from human seizure disorders?
K Chandler
The Veterinary Journal 172 (2), 207-217, 2006
2042006
Syringohydromyelia in cavalier king Charles spaniels
C Rusbridge, JE MacSweeny, JV Davies, K Chandler, SN Fitzmaurice, ...
Journal of the American Animal Hospital Association 36 (1), 34-41, 2000
2022000
Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome
J Clayton-Smith, J O'Sullivan, S Daly, S Bhaskar, R Day, B Anderson, ...
The American Journal of Human Genetics 89 (5), 675-681, 2011
1942011
How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum
S Banka, R Veeramachaneni, W Reardon, E Howard, S Bunstone, ...
European Journal of Human Genetics 20 (4), 381-388, 2012
1932012
Diagnostic criteria, clinical characteristics, and natural history of Cohen syndrome
KE Chandler, A Kidd, L Al-Gazali, J Kolehmainen, AE Lehesjoki, ...
Journal of medical genetics 40 (4), 233-241, 2003
1822003
Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism
M Ansari, G Poke, Q Ferry, K Williamson, R Aldridge, AM Meynert, ...
Journal of medical genetics 51 (10), 659-668, 2014
1802014
The efficacy and tolerability of levetiracetam in pharmacoresistant epileptic dogs
HA Volk, LA Matiasek, AL Feliu-Pascual, SR Platt, KE Chandler
The Veterinary Journal 176 (3), 310-319, 2008
1732008
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