Clinical Professor Medical Genetics University of British Columbia Centre for Biomedical Research
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Familial gastric cancer: overview and guidelines for management
C Caldas, F Carneiro, HT Lynch, J Yokota, GL Wiesner, SM Powell, ...
Journal of medical genetics 36 (12), 873-880, 1999
Early gastric cancer in young, asymptomatic carriers of germ-line E-cadherin mutations
DG Huntsman, F Carneiro, FR Lewis, PM MacLeod, A Hayashi, ...
New England Journal of Medicine 344 (25), 1904-1909, 2001
Evidence for multi‐site closure of the neural tube in humans
MI Van Allen, DK Kalousek, GF Chernoff, D Juriloff, M Harris, ...
American journal of medical genetics 47 (5), 723-743, 1993
Germline E-cadherin mutations in hereditary diffuse gastric cancer: assessment of 42 new families and review of genetic screening criteria
AR Brooks-Wilson, P Kaurah, G Suriano, S Leach, J Senz, N Grehan, ...
Journal of medical genetics 41 (7), 508-517, 2004
Identification of Germ-Line E-cadherin Mutations in Gastric Cancer Families of European Origin
SA Gayther, KL Gorringe, SJ Ramus, D Huntsman, F Roviello, N Grehan, ...
Cancer research 58 (18), 4086-4089, 1998
A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome
GN Mnatzakanian, H Lohi, I Munteanu, SE Alfred, T Yamada, ...
Nature genetics 36 (4), 339-341, 2004
Correlation between CAG repeat length and clinical features in Machado-Joseph disease
P Maciel, C Gaspar, AL DeStefano, I Silveira, P Coutinho, J Radvany, ...
American journal of human genetics 57 (1), 54, 1995
Inherited mutations in PTEN that are associated with breast cancer, cowden disease, and juvenile polyposis
ED Lynch, EA Ostermeyer, MK Lee, JF Arena, HL Ji, J Dann, K Swisshelm, ...
The American Journal of Human Genetics 61 (6), 1254-1260, 1997
Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations
JJ Johnston, I Olivos-Glander, C Killoran, E Elson, JT Turner, KF Peters, ...
The American Journal of Human Genetics 76 (4), 609-622, 2005
Predictive testing for Huntington disease in Canada: adverse effects and unexpected results in those receiving a decreased risk
M Huggins, M Bloch, S Wiggins, S Adam, O Suchowersky, M Trew, ...
American journal of medical genetics 42 (4), 508-515, 1992
Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia
PN Valdmanis, IA Meijer, A Reynolds, A Lei, P MacLeod, D Schlesinger, ...
The American Journal of Human Genetics 80 (1), 152-161, 2007
Predictive, pre‐natal and diagnostic genetic testing for Huntington's disease: the experience in Canada from 1987 to 2000
S Creighton, EW Almqvist, D MacGregor, B Fernandez, H Hogg, J Beis, ...
Clinical genetics 63 (6), 462-475, 2003
Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum
M Synofzik, AS Soehn, J Gburek-Augustat, J Schicks, KN Karle, R Schüle, ...
Orphanet journal of rare diseases 8 (1), 41, 2013
Diagnosis and management of infantile Marfan syndrome
RP Morse, S Rockenmacher, RE Pyeritz, SP Sanders, FR Bieber, A Lin, ...
Pediatrics 86 (6), 888-895, 1990
Clinical and ultrastructural heterogeneity of type IV Ehlers-Danlos syndrome
PH Byers, KA Holbrook, B McGillivray, PM MacLeod, RB Lowry
Human genetics 47, 141-150, 1979
Proceed with care: direct predictive testing for Huntington disease
CM Benjamin, S Adam, S Wiggins, JL Theilmann, TT Copley, M Bloch, ...
American journal of human genetics 55 (4), 606, 1994
Frequency of spinocerebellar ataxia type 1, dentatorubropallidoluysian atrophy, and Machado-Joseph disease mutations in a large group of spinocerebellar ataxia patients
I Silveira, I Lopes-Cendes, S Kish, P Maciel, C Gaspar, P Coutinho, ...
Neurology 46 (1), 214-218, 1996
Rett syndrome: north American database
AK Percy, JB Lane, J Childers, S Skinner, F Annese, J Barrish, E Caeg, ...
Journal of child neurology 22 (12), 1338-1341, 2007
High incidence rate and absent family histories in one quarter of patients newly diagnosed with Huntington disease in British Columbia
EW Almqvist, DS Elterman, PM MacLeod, MR Hayden
Clinical genetics 60 (3), 198-205, 2001
Syndromes of disordered chromatin remodeling
J Ausio, DB Levin, GV De Amorim, S Bakker, PM Macleod
Clinical genetics 64 (2), 83-95, 2003
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