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Shane McKee
Shane McKee
Genetic Medicine, Belfast City Hospital
Bestätigte E-Mail-Adresse bei belfasttrust.hscni.net - Startseite
Titel
Zitiert von
Zitiert von
Jahr
Prevalence and architecture of de novo mutations in developmental disorders
Nature 542 (7642), 433-438, 2017
8802017
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
5592015
X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment
LM Dibbens, PS Tarpey, K Hynes, MA Bayly, IE Scheffer, R Smith, ...
Nature genetics 40 (6), 776-781, 2008
4932008
Germline E-cadherin gene (CDH1) mutations predispose to familial gastric cancer and colorectal cancer
FM Richards, SA McKee, MH Rajpar, TRP Cole, DGR Evans, ...
Human molecular genetics 8 (4), 607-610, 1999
4351999
Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome
JKJ Van Houdt, BA Nowakowska, SB Sousa, BDC Van Schaik, ...
Nature genetics 44 (4), 445-449, 2012
2752012
Heterogeneity among patients with tumor necrosis factor receptor–associated periodic syndrome phenotypes
E Aganna, L Hammond, PN Hawkins, A Aldea, SA McKee, ...
Arthritis & Rheumatism: Official Journal of the American College of …, 2003
2442003
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
Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia
E Meyer, KJ Carss, J Rankin, JME Nichols, D Grozeva, AP Joseph, ...
Nature genetics 49 (2), 223-237, 2017
2142017
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
Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum
E Boland, J Clayton-Smith, VG Woo, S McKee, FDC Manson, L Medne, ...
The American Journal of Human Genetics 81 (2), 292-303, 2007
1952007
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
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
Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked …
FJ Kaiser, M Ansari, D Braunholz, M Concepción Gil-Rodríguez, ...
Human molecular genetics 23 (11), 2888-2900, 2014
1772014
Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humans
F Buonocore, P Kühnen, JP Suntharalingham, I Del Valle, M Digweed, ...
The Journal of clinical investigation 127 (5), 1700-1713, 2017
1652017
LRRK2 haplotype analyses in European and North African families with Parkinson disease: a common founder for the G2019S mutation dating from the 13th century
S Lesage, AL Leutenegger, P Ibanez, S Janin, E Lohmann, A Dürr, ...
The American Journal of Human Genetics 77 (2), 330-332, 2005
1562005
Novel KDM6A (UTX) mutations and a clinical and molecular review of the X‐linked Kabuki syndrome (KS2)
S Banka, D Lederer, V Benoit, E Jenkins, E Howard, S Bunstone, B Kerr, ...
Clinical genetics 87 (3), 252-258, 2015
1432015
Evidence for digenic inheritance in some cases of Antley-Bixler syndrome?
W Reardon, A Smith, JW Honour, P Hindmarsh, D Das, G Rumsby, ...
Journal of medical genetics 37 (1), 26-32, 2000
1432000
Not all SCN1A epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype
LG Sadleir, EI Mountier, D Gill, S Davis, C Joshi, C DeVile, MA Kurian, ...
Neurology 89 (10), 1035-1042, 2017
1282017
Clinical and genetic analysis of patients with pancreatic neuroendocrine tumors associated with von Hippel-Lindau disease
SK Libutti, PL Choyke, HR Alexander, G Glenn, DL Bartlett, B Zbar, ...
Surgery 128 (6), 1022-1028, 2000
1222000
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