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American Journal of Medical Genetics. Part A|August 5, 2010
A prenatally recognizable malformation syndrome associated with a recurrent post-zygotic chromosome rearrangement der(Y)t(Y;1)(q12:q21)Chumei LiAmerican Journal of Medical Genetics. Part A|March 27, 2013
Trisomy 22 mosaicism and normal developmental outcome: report of two patients and review of the literatureDalal Abdelgadir, Malgorzata J M Nowaczyk, Chumei LiPediatrics and Neonatology|April 20, 2013
Monosomy 3pter-p25.3 and trisomy 1q42.13-qter in a boy with profound growth and developmental restriction, multiple congenital anomalies, and early deathChumei Li, Vikas Mahajan, Jia-Chi Wang, et al.Journal of Controlled Release : Official Journal of the Controlled Release Society|January 16, 2007
Silk microspheres for encapsulation and controlled releaseXiaoqin Wang, Esther Wenk, Akira Matsumoto, et al.Clinical Chemistry and Laboratory Medicine|December 6, 2008
A novel large deletion and three polymorphisms in the FECH gene associated with erythropoietic protoporphyriaChumei Li, Elena Di Pierro, Valentina Brancaleoni, et al.Seizure|March 22, 2025
Biallelic SCN1A variants with divergent epilepsy phenotypesRowan Pentz, Rebecca Hough, Chumei Li, et al.American Journal of Medical Genetics. Part A|January 27, 2010
The Roberts syndrome/SC phocomelia spectrum--a case report of an adult with review of the literatureElaine Suk-Ying Goh, Chumei Li, Sheri Horsburgh, et al.American Journal of Medical Genetics. Part A|March 14, 2007
Manitoba Oculotrichoanal (MOTA) syndrome: report of eight new casesChumei Li, Sandra L Marles, Cheryl R Greenberg, et al.Molecular Genetics & Genomic Medicine|December 3, 2022
Further characterization of the 9q31 microdeletion phenotype; delineation of a common region of overlap containing ZNF462Lauren Brady, Mark Ballantyne, John Duck, et al.American Journal of Medical Genetics. Part A|March 29, 2017
Normal IQ is possible in Smith-Lemli-Opitz syndromeYasemen Eroglu, Mina Nguyen-Driver, Robert D Steiner, et al.Pageof 4