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American Journal of Medical Genetics. Part A|August 21, 2012
Life-history chronicle for a patient with the recently described chromosome 4q21 microdeletion syndromeErica Tsang, Rosemarie Rupps, Barbara McGillivray, et al.American Journal of Medical Genetics. Part A|October 24, 2007
Craniosynostosis associated with distal 5q-trisomy: further evidence that extra copy of MSX2 gene leads to craniosynostosisJia-Chi Wang, Michelle Steinraths, Linda Dang, et al.European Journal of Medical Genetics|September 24, 2009
A characteristic syndrome associated with microduplication of 8q12, inclusive of CHD7Anna M Lehman, Jan M Friedman, David Chai, et al.American Journal of Medical Genetics. Part A|August 6, 2014
Diffuse angiopathy in Adams-Oliver syndrome associated with truncating DOCK6 mutationsAnna Lehman, Anna-Barbara Stittrich, Gustavo Glusman, et al.American Journal of Medical Genetics. Part A|February 13, 2008
Inverted duplication with terminal deletion of 5p and no cat-like cryJia-Chi Wang, Bradley P Coe, Brenda Lomax, et al.Molecular Genetics and Metabolism|June 13, 2006
A hemizygous SCO2 mutation in an early onset rapidly progressive, fatal cardiomyopathyScot C Leary, Andre Mattman, Timothy Wai, et al.American Journal of Medical Genetics. Part A|May 21, 2021
An approach to rapid characterization of DMD copy number variants for prenatal risk assessmentHui-Lin Chin, Kieran O'Neill, Kristal Louie, et al.Journal of Human Genetics|October 16, 2015
BMPER variants associated with a novel, attenuated subtype of diaphanospondylodysostosisZheyuan Zong, Susan Tees, Firoz Miyanji, et al.Journal of Medical Genetics|June 5, 2007
Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three childrenFarah Zahir, Helen V Firth, Agnes Baross, et al.American Journal of Medical Genetics. Part A|February 13, 2009
Molecular breakpoint mapping of 6q11-q14 interstitial deletions in seven patientsJia-Chi Wang, Linda Dang, Brenda Lomax, et al.Pageof 4