S. Hamilton

发表

Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study

Phillip A. Richmond, W. Wasserman, C. Boerkoel, 2022, HGG advances.

Unusual segregation products in sperm from a pericentric inversion 17 heterozygote

A. Rademaker, B. McGillivray, Renée H. Martin, 2005, Human Genetics.

Mutations in FLNC are Associated with Familial Restrictive Cardiomyopathy

J. Schwartzentruber, M. McKinnon, S. Greenway, 2016, Human Mutation.

Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins

Kristin M. Scheible, U. Surti, P. Stankiewicz, 2016, Human Genetics.

Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14

M. Marra, K. Buysse, G. Mortier, 2007, Journal of Medical Genetics.

BPES with atypical premature ovarian insufficiency, and evidence of mitotic recombination, in a woman with trisomy X and a translocation t(3;11)(q22.3;q14.1)

H. Bruyèrè, P. Eydoux, B. McGillivray, 2012, American journal of medical genetics. Part A.

Cardiac findings in an individual with neurofibromatosis 1 and sudden death.

J. Friedman, M. Allard, S. Hamilton, 2001, American journal of medical genetics.

Manifestations in a family with autosomal dominant bone fragility and limb‐girdle myopathy

S. Mehta, V. Kimonis, S. Mumm, 2006, American journal of medical genetics. Part A.

Case Report: Direct Access Genetic Testing and A False-Positive Result For Long QT Syndrome

A. Elliott, W. Gibson, S. Predham, 2016, Journal of Genetic Counseling.

Understanding the impact of 1q21.1 copy number variant

P. Pavlidis, E. Strong, M. O’Driscoll, 2011, Orphanet journal of rare diseases.

Mapping autosomal dominant progressive limb-girdle myopathy with bone fragility to chromosome 9p21-p22: a novel locus for a musculoskeletal syndrome

S. Mehta, Chengfeng Zhao, V. Kimonis, 2005, Human Genetics.

Congenital Hypothalamic “Hamartoblastoma” Versus “Hamartoma”: Suggestions for Neuropathologic Terminology Emanating From a Mid-gestational Autopsy Case of Pallister-Hall Syndrome

M. McKinnon, D. McFadden, C. Dunham, 2018, Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.

IRAK-4 deficiency as a cause for familial fatal invasive infection by Streptococcus pneumoniae.

L. Hoang, S. Grazioli, M. McKinnon, 2016, Clinical immunology.

Mutations in FLNC are Associated with Familial Restrictive Cardiomyopathy

J. Schwartzentruber, M. McKinnon, S. Greenway, 2016, Human mutation.