Shulin Zhang, MD, PhD

Publications & Other Scholarly Work:

1     T. Jassim, T.Sheng, S.Zhang, S.Wei, S.Arnold, A.Kejner, T.J.Bocklage, J.C.Dueber. Novel fusion KTN1-PRKD1 in cribriform adenocarcinoma of salivary glands located in the parotid gland: Case report including cytologic findings. Human Pathology: Case Reports Volume 24, June 2021, 200496

2     Simote T Foliaki, Bradley R Groveman, Jue Yuan, Ryan Walters, Shulin Zhang, Paul Tesar, Wenquan Zou, Cathryn L Haigh. Pathogens. 2020 Jun 18;9(6):482. (PMID:32570796)

3     Lee-Jun C Wong , Ting Chen , Eric S Schmitt , Jing Wang , Sha Tang , Megan Landsverk , Fangyuan Li , Shulin Zhang , Yue Wang , Victor W Zhang , William J Craigen. Hum Mutat. 2020 July 11: Clinical and Laboratory Interpretation of mitochondrial mRNA variants (PMID: 32652755)

4     Lee-Jun C. Wong, Ting Chen, Eric S. Schmitt, Jing Wang, Shulin Zhang, Megan Landsverk, Fangyuan Li, Sha Tang, Yue Wang, Victor Wei Zhang, William J. Craigen. Genet Med. 2020 May;22(5):917-926. Interpretation of Mitochondrial tRNA variants (PMID:31965079).

5     Lora J H Bean, Birgit Funke, Colleen M Carlson, Jennifer L Gannon, Sibel Kantarci, Bryan L Krock, Shulin Zhang, Pinar Bayrak-Toydemir. 2020 Mar;22(3):453-461 Gene Med. Diagnostic Gene Sequencing Panels: From Design to Report – A Technical Standard of the American College of Medical Genetics and Genomics (ACMG) (PMID:31732716)

6     Lukun Yang, Timothy Tautz, Shulin Zhang, Alla Fomina, Long Liu. J Biomed Res 2019 May 30;34(2):75-85.The Current Status of Malignant Hyperthermia (PMID:32305961)

7     Bedoyan JK, Hecht L, Zhang S, Tarrant S, Bergin A, Demirbas D, Yang E, Shin HK, Grahame GJ, DeBorosse SD, Hoppel CL, Kerr DS, Berry GT JIMD Rep. 2019 Jun 17;48(1):26-35. A novel null mutation in the pyruvate dehydrogenase phosphatase catalytic subunit gene (PDP1) causing pyruvate dehydrogenase complex deficiency  (PMID: 31392110)

8    Bedoyan JK, Hecht L, Zhang S, Tarrant S, Bergin A, Demirbas D, Yang E, Shin HK, Grahame GJ, DeBorosse SD, Hoppel CL, Kerr DS, Berry GT JIMD Rep. 2019 Jun 17;48(1):26-35. A novel null mutation in the pyruvate dehydrogenase phosphatase catalytic subunit gene (PDP1) causing pyruvate dehydrogenase complex deficiency  (PMID: 31392110)

9    Zhang S, Taylor AK, Huang X, Luo B, Spector EB, Fang P, Richards CS, ACMG Laboratory Quality Assurance Committee: Venous thromboembolism laboratory testing (factor V Leiden and Factor II c.*97G>A), 2018 update: a technical standard of the American College of Medical Genetics and Genomics (ACMG). Genet Med 2018 Dec;20(12):1489-1498. (PMID:30297698)

10   Foutz A, Appleby BS, Foutz A, Appleby BS, Hamlin C, Liu X, Yang  S, Cohen Y, Chen W, Blevins J, Fausett C, Wang H, Gambetti  P, Zhang S, Hughson A, Tatsuoka C, Schonberger LB, Cohen ML, Caughey B, Safar JG. Diagnostic and prognostic value of human prion detection in cerebrospinal fluid. Ann Neurol. 2017 Jan; 81(1):79- 82. (PMID 27893164)

11   Christina D. Orrú1, Jue Yuan, Brian S. Appleby, Baiya Li, Yu Li, Dane Winner, Yi-An Zhan, Mark Rodgers, Jason Rarick, Robert E. Wyza, Tripti Joshi, Gong-Xian Wang,Mark L. Cohen, Shulin Zhang, Bradley R. Groveman, Robert B. Petersen, James W.Ironside, Miguel E. Quiñones-Mateu, Jiri G. Safar, Qingzhong Kong, Byron Caughey, Wen-Quan Zou, Prion seeding activity and infectivity detectable in the skin of sporadic Creutzfeldt-Jakob disease patients. Submitted to Science Advances Dec.2016

12   Minikel EV, Vallabh SM, Lek M, Estrada K, Samocha KE, Sathirapongsasuti JF, McLean CY, Tung JY, Yu LP, Gambetti P, Blevins J, Zhang S,Cohen Y, Chen W, Yamada M, Hamaguchi T, Sanjo N, Mizusawa H, Nakamura Y1, Kitamoto T, Collins SJ, Boyd A, Will RG, Knight R, Ponto C, Zerr I, Kraus TF, Eigenbrod S, Giese  A, Calero M, de Pedro-Cuesta J, Haïk S, Laplanche JL, Bouaziz-Amar E, Brandel JP, Capellari S, Parchi P, Poleggi A, Ladogana A, O'Donnell-Luria AH, Karczewski KJ, Marshall JL, Boehnke M, Laakso M, Mohlke KL, Kähler A,Chambert K, McCarroll S, Sullivan PF, Hultman CM, Purcell SM, Sklar P, van der Lee SJ, Rozemuller A, Jansen C, Hofman A, Kraaij R,van Rooij JG, Ikram MA, Uitterlinden AG, van Duijn CM; Exome Aggregation Consortium (ExAC), Daly MJ, MacArthur DG. Quantifying prion disease penetrance using large population control cohorts. Sci Transl Med. 2016 Jan 20;8(322):322ra9. doi: 10.1126/scitranslmed.aad5169. (PMID 26791950)

13   JH Goldstein, T Tim-Aroon, J Shieh, M Merril, KK Deeb, S Zhang, NE Bass, JK Bedoyan Novel SMC1A frameshift mutations in children with developmental delay and epilepsy Eur J Med Genet 2015 Sep 18:58(10):562-568 (PMID: 26386245)

14   Barbara J. Daly, Ashley Rosko, Shulin Zhang, Hillard M. Lazarus The Devil is in the Details; Confidentiality Challenges in the Age of Genetics HEC Forum 2015 27:79-86 (PMID:25085670)

15   Cohen ML, Kim C, Haldiman T, ElHag M, Mehndiratta P, Pichet   T, Lissemore F, Shea M, Cohen Y, Chen W, Blevins J, Appleby  BS, Surewicz K, Surewicz WK, Sajatovic M, Tatsuoka C, Zhang  S2, Mayo P, Butkiewicz M, Haines JL, Lerner AJ, Safar JG, Rapidly progressive Alzheimer’s disease features distinct structures of amyloid- B. Brian 2015 Apr; 138 (Pt 4):1099-22 (PMID 25688081)

16   Kristin K. Deeb1, James D. Metcalf1, Kaitlin M. Sesock1, Junqing Shen1, Christine A. Wensel1, Larisa I. Rippel2, Michelle Smith1, Mark S. Chapman3, and Shulin Zhang1 The c.1364C>A (p.A455E) mutation in the CFTR pseudogene results in an incorrectly assigned carrier status by a commonly used screening platform  Journal of Molecular Diagnostics 2015 17(4):360-365(PMID:25956447 corresponding author)

17   Kishore Guda, Stephen P. Fink, Ginger L. Milne, Neil Molyneaux, Lakshmeswari Ravi,usan M. Lewis, Andrew J. Dannenberg, Courtney G. Montgomery, Shulin Zhang, Joseph Willis, Georgia L. Wiesner, and Sanford D. Markowitz Inactivating Mutation in the Prostaglandin Transporter Gene, SLCO2A1, Associated With Familial Digital Clubbing, Colon Neoplasia, and NSAID Resistance Cancer Prevention Research 2014 7(8);1-8 (PMID:24838973)

18   Kristin K. Deeb, Jirair K. Bedoyan, Raymond Wang, Leighann Scremba, Molly C. Schroeder, George J. Grahame, Monica Boyer, Shawn E. McCandless, Douglass S. Kerr, Shulin Zhang Somatic mosaicism for a novel PDHA1 mutation in a male with severe pyruvate dehydrogenase complex deficiency Molecular Genetics and Metabolism Reports 2014 362-367 (corresponding author)

19   Jue Yuan, Yi-An Zhan, Romany Abskharon, Xiangzhu Xiao, Manuel  Camacho Martinez, Xiaochen Zhou, Geoff Kneale, Jacqueline Mikol,  Sylvain Lehmann, Witold K. Surewicz, Joaquín Castilla, Jan Steyaert,  Shulin Zhang, Qingzhong Kong, Robert B. Petersen, Alexandre  Wohlkonig, Wen-Quan Zou: Recombinant Human Prion Protein Inhibits Prion Propagation in vitro SCIENTIFIC REPORTS 2013 | 3 : 2911 | DOI: 10.1038/srep02911

20   Jaime Veengoechea, Aditi S. Parikh, Shulin Zhang, Flora Tassone: De novo microduplication of the FMR1 gene in a patient with developmental delay, epilepsy and hyperactivity European Journal of Human Genetics 2012 20:1197-1200

21   Suzanne D. DeBrosse, Kazuki Okajima, Shulin Zhang, Ghunwa Nakouzi, Christine L. Schmotzer, Marilyn Lusk-Kopp, Mary Beth Frohnapfel, George Grahame, Douglas S. Kerr: Spectrum of Neurological and Survival Outcomes in Pyruvate Dehydorgenase Complex (PDC) Deficiency Lack of Correlation with Genotype Molecular Genetics and Metabolism 2012 Nov 107(3):394-402

22   A.Zhang, Y. Sun, D. Thomas, P.Kawczak, S.Zhang & M.Askar. Identification of three MICA alleles in the genotype of a patient with chronic lymphocytic leukemia Tissue Antigens (Immune Response Genetics) 2011 79:64-67

23   Ayman W. El-Hattab, Fang-Yuan Li, Eric Schmitt, Shulin Zhang, William J. Craigen, Lee-Jun C. Wong MPV17-associated hepatocerebral mitochondrial DNA depletion syndrome: new patients and novel mutations Molecular Genetics and Metabolism 2010Mar; 99(3):300-8

24   Shulin Zhang, Ph.D.; Fang-yuan Li, Ph.D.; Harold N Bass, M.D.; Amber Pursley, M.Sc.; Eric S Schmitt, Ph.D.; Blaire L Brown, M.Sc.; Ellen K Brundage, B.A.; Rebecca Mardach, M.D. Lee-Jun Wong Ph.D. Application of Oligonucleotide Array CGH to the Simultaneous Detection of a Deletion in the Nuclear TK2 Gene and mtDNA Depletion Molecular Genetics and Metabolism 2010, 99(1):53-57.

25   Curtis R.Coughlin II, Ian D. Krantz, Eric S. Schmitt, Shulin Zhang, Lee- Jun C.Wong, Douglas S.Kerr, Jaya Ganesh, Somatic Mosaicism for PDHA1 Mutation in a Male with Pyruvate Dehydrogenase Complex Deficiency Molecular Genetics and Metabolism 2010 100(3):296-299

26   Milone M, Younge BR, Wang J, Zhang S, Wong LJ Mitochondrial Disorder with OPA1 Mutation Lacking Optic Atrophy Mitochondrion  2009 Jul; 9(4):279_81

27   Nicola Brunetti-Pierri, Aziz Shaibani, Shulin Zhang, Lee-Jun Wong, Marwan Shinawi Progressive Myopathy with Multiple Symmetric Lipomatosis Arch Neurol. 2009;66(12):1576-1577

28   Aziz Shaibani , Oleg Shchelochkov , Shulin Zhang , Panagiotis Katsonis , Olivier Lichtarge , Lee-Jun Wong , Marwan Shinawi Mitochondrial Neurogastrointestinal Encephalopathy Due to Mutations in RRM2B Archives of Neurology 2009, Aug 66(8):1028-32

29   Shannon R. Payne,1†   Shulin Zhang,2   Karen Tsuchiya,1   Russell Moser,1 Kay E. Gurley,1 Gary Longton,1 Johan deBoer,2 and Christopher J. Kemp1* p27kip1 deficiency impairs G2/M arrest in response to DNA damage, leading to an increase in genetic instability Mol Cell Biol. 2008 January; 28(1): 258–268.

30   Zhang S. Chen M, Aubin J.E. Pleiotropic Effects of Steroid Hormone 1,25-Dihydroxyvitamin  D3  on  the  Recruitment  of  Mesenchymal  Lineage Progenitors in Fetal Rat Calvaria Cells Journal of Molecular Endocrinology 2006 36(3):425-433.

31   Zhang S. Uchida S, Aubin J.E. Side Population (SP) Cells Isolated from Fetal Rat Calvaria are Enriched for Bone, Cartilage, Adipose Tissue and Neural Progenitors BONE 2006 (38):662-670.

32   Zhang S, Lloyd R, Bowden G, de Boer J.G. and Glickman B. W. The Mutator Effect of Msh2 Deficiency in the Mouse Colon: Evidence for Haplo-Insufficiency. Environmental and Molecular Mutagenesis 2002, 40: 243-250.

33   Zhang  S,  Lloyd  R,  Bowden  G,  de  Boer  J.G  and  Glickman  B.  W. Thymic  Lymphoma  Arising  in  Msh2  Deficient  Mice  Display  a  Large Increase in  Mutation  Frequency and  an  Altered  Mutational Spectrum. Mutation research 2002 Apr. 500 (1-2): 67-74.

34   Zhang S, de Boer J.G. and Glickman B. W. Spontaneous Mutations of LacI Transgene in Rodents: Absence of Strain, Species and Insertion Site Influence. Environmental and Molecular Mutagenesis (2001) 37:141-146.

35   Zhang  S,  Lloyd  R,  Bowden  G,  de  Boer  J.G.  and  Glickman  B.  W. Synergistic Effect of Msh2 DNA Mismatch Repair Gene Deficiency and a Food Borne Mutagen 2-Amino-1-Methyl-6-Phenolimidazol [4,5-b] Pyridine (PhIP) in the Mutagenesis of Colon. Oncogene 2001 Sep 20;20(42):6066-72.

36   Zhang S, Qu M. Epiphyseal Avulsion of Antero-Superior Iliac Spine in Adolescent Athletes and A Rare Complication. Collection of Papers of National Conference of Sports Medicine of China, 1996.

37   Zhang S, Tian D. Clinical Application of Dolobene Gel. Chinese Journal of Sports Medicine, Vol. 14.2. 1995