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Meriel McEntagart
Meriel McEntagart
Consultant Geneticist St George’s University London
Dirección de correo verificada de stgeorges.nhs.uk
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Prevalence and architecture of de novo mutations in developmental disorders
Nature 542 (7642), 433-438, 2017
8842017
Large-scale discovery of novel genetic causes of developmental disorders
Nature 519 (7542), 223-228, 2015
7462015
Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C
M Auer-Grumbach, A Olschewski, L Papić, H Kremer, ME McEntagart, ...
Nature genetics 42 (2), 160-164, 2010
3052010
Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders
IM Campbell, BO Yuan, C Robberecht, R Pfundt, P Szafranski, ...
The American Journal of Human Genetics 95 (2), 173-182, 2014
2752014
De novo mutations in MLL cause Wiedemann-Steiner syndrome
WD Jones, D Dafou, M McEntagart, WJ Woollard, FV Elmslie, ...
The American Journal of Human Genetics 91 (2), 358-364, 2012
2752012
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
2062018
Genotype-phenotype correlation in NF1: evidence for a more severe phenotype associated with missense mutations affecting NF1 codons 844–848
M Koczkowska, Y Chen, T Callens, A Gomes, A Sharp, S Johnson, ...
The American Journal of Human Genetics 102 (1), 69-87, 2018
1972018
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
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
1822014
Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy
P Ostergaard, MA Simpson, A Mendola, P Vasudevan, FC Connell, ...
The American Journal of Human Genetics 90 (2), 356-362, 2012
1822012
Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria
MC O'Driscoll, SB Daly, JE Urquhart, GCM Black, DT Pilz, K Brockmann, ...
The American Journal of Human Genetics 87 (3), 354-364, 2010
1592010
Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients
KP Hoornaert, I Vereecke, C Dewinter, T Rosenberg, FA Beemer, ...
European journal of human genetics 18 (8), 872-880, 2010
1552010
Genotype–phenotype correlations in X-linked myotubular myopathy
M McEntagart, G Parsons, A Buj-Bello, V Biancalana, I Fenton, M Little, ...
Neuromuscular Disorders 12 (10), 939-946, 2002
1542002
Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies
M Zimoń, J Baets, M Auer-Grumbach, J Berciano, A Garcia, E Lopez-Laso, ...
Brain 133 (6), 1798-1809, 2010
1482010
Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis
GV Harlalka, A Lehman, B Chioza, EL Baple, R Maroofian, H Cross, ...
Brain 136 (12), 3618-3624, 2013
1342013
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 aspects of KBG syndrome
K Low, T Ashraf, N Canham, J Clayton‐Smith, C Deshpande, ...
American journal of medical genetics Part A 170 (11), 2835-2846, 2016
1072016
Arid1b haploinsufficient mice reveal neuropsychiatric phenotypes and reversible causes of growth impairment
C Celen, JC Chuang, X Luo, N Nijem, AK Walker, F Chen, S Zhang, ...
Elife 6, e25730, 2017
1052017
Defective presynaptic choline transport underlies hereditary motor neuropathy
KES Barwick, J Wright, S Al-Turki, MM McEntagart, A Nair, B Chioza, ...
The American Journal of Human Genetics 91 (6), 1103-1107, 2012
1042012
Natural history of vanishing white matter
EMC Hamilton, HDW van der Lei, G Vermeulen, JAM Gerver, ...
Annals of neurology 84 (2), 274-288, 2018
982018
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Artículos 1–20