Dr. Joseph Shen is board certified in Pediatrics by the American Board of Pediatrics and board certified in Clinical Genetics by the American Board of Medical Genetics.
Prior to joining Children’s Hospital Central California, Dr. Shen held Assistant Professor and Instructor positions in the Department of Molecular and Human Genetics at Baylor College of Medicine. Dr. Shen has published in journals such as the American Journal of Medical Genetics, Human Molecular Genetics and Pediatric Blood and Cancer (The official journal of The American Society of Pediatric Hematology/Oncology (ASPHO)). He has received honors for his work in the medical field including the Child Health Research Center Award and the Annual Ciga-Geneva Award for Outstanding Community Service.
A graduate of Case Western Reserve University School of Medicine in Cleveland, Ohio, Dr. Shen completed his internship and residency in pediatrics, and a clinical genetics fellowship at Baylor College of Medicine in Houston, Texas. He also obtained a PhD, awarded from the Department of Genetics at Case Western Reserve University; his thesis reported on “Cytogenetic, Molecular, and Somatic Cell Hybrid Studies of Nondisjoined Chromosomes 21 in Individuals with Down Syndrome and Leukemia.”
Publications
Kurotaki N, Shen JJ, Touyama M, Kondoh T, Visser R, Ozaki T, Nishimoto J, Shiihara T, Uetake K, Makita Y, Harada N, Raskin S, Brown CW, Höglund P, Okamoto N, Lupski JR. “Phenotypic consequences of genetic variation at hemizygous alleles: Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficiency.” Genet Med. 2005; 7(7):479-83.
PMID: 16170239
Bhakta KY, Marlin SJ, Shen JJ, Fernandes CJ. “Terminal deletion of chromosome 15q26.1: case report and brief literature review.” J Perinatol. 2005; 25(6):429-32.
PMID: 15843813
Shen JJ, Kurotaki N, Patel A, Lupski JR, Brown CW. “Low factor XII level in an individual with Sotos syndrome.” Pediatr Blood Cancer. 2005; 44(2):187-9.
PMID: 15390361
McCormack WM Jr, Shen JJ, Curry SM, Berend SA, Kashork C, Pinar H, Potocki L, Bejjani BA. “Partial deletions of the long arm of chromosome 13 associated with holoprosencephaly and the Dandy-Walker malformation.” Am J Med Genet A. 2003; 118A (2):384-9.
PMID: 12698964
Shen JJ, Brown CA, Lupski JR, Potocki L. “Mandibuloacral dysplasia caused by homozygosity for the R527H mutation in lamin A/C.” J Med Genet. 2003; 40(11):854-7.
PMID: 14627682
Shen JJ, Sherman SL, Hassold TJ. “Centromeric genotyping and direct analysis of nondisjunction in humans: Down syndrome.” Chromosoma. 1998; 107(3):166-72.
PMID: 9639654
Lamb NE, Feingold E, Savage A, Avramopoulos D, Freeman S, Gu Y, Hallberg A, Hersey J, Karadima G, Pettay D, Saker D, Shen J, Taft L, Mikkelsen M, Petersen MB, Hassold T, Sherman SL. “Characterization of susceptible chiasma configurations that increase the risk for maternal nondisjunction of chromosome 21.” Hum Mol Genet. 1997; 6(9):1391-9.
PMID: 9285774
Lamb NE, Freeman SB, Savage-Austin A, Pettay D, Taft L, Hersey J, Gu Y, Shen J, Saker D, May KM, Avramopoulos D, Petersen MB, Hallberg A, Mikkelsen M, Hassold TJ, Sherman SL. “Susceptible chiasmate configurations of chromosome 21 predispose to non-disjunction in both maternal meiosis I and meiosis II.” Nat Genet. 1996; 14(4):400-5.
PMID: 8944019
Hassold T, Abruzzo M, Adkins K, Griffin D, Merrill M, Millie E, Saker D, Shen J, Zaragoza M. “Human aneuploidy: incidence, origin, and etiology.” Environ Mol Mutagen. 1996; 28(3):167-75.
PMID: 8908177
Shen JJ, Williams BJ, Zipursky A, Doyle J, Sherman SL, Jacobs PA, Shugar AL, Soukup SW, Hassold TJ. “Cytogenetic and molecular studies of Down syndrome individuals with leukemia.” Am J Hum Genet. 1995; 56(4):915-25.
PMID: 7717402