Clinical Interests

Cancer genetics

Research Interests

Pathogenesis of hematological malignancies; molecular genetics of inherited disorders

MD: Shanghai Medical University

PhD: University Of South Alabama

Medical Genetics Fellowship: University of Colorado Health Sciences Center

Certifications: Clinical molecular genetics 1999

Clinical cytogenetics: 2001

Lv L, Wu C, Sun H, Zhu S, Yang Y, Chen X, Fu H, Bao L.  Combined 677CC/1298AC genotypes of methylenetetrahydrofolate reductase (MTHFR) reduce susceptibility to precursor B lymphoblastic leukemia in a Chinese population. Eur J Haematol. 2010;84(6):506-12.

Irons RD, Le A, Bao L, Zhu X, Ryder J, Wang XQ, Ji M, Chen Y, Wu X, Lin G.  Characterization of chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL) in Shanghai, China: Molecular and cytogenetic characteristics, IgV gene restriction and hypermutation patterns. Leuk Res. 2009;33(12):1599-603.

Bao L, Gross SA, Ryder J, Wang X, Ji M, Chen Y, Yang Y, Zhu S, Irons RD.  Adult precursor B lymphoblastic leukemia in Shanghai, China: characterization of phenotype, cytogenetics and outcome for 137 consecutive cases. Int J Hematol. 2009;89(4):431-7.

Gross SA, Zhu X, Bao L, Ryder J, Le A, Chen Y, Wang XQ, Irons RD.  A prospective study of 728 cases of non-Hodgkin lymphoma from a single laboratory in Shanghai, China. Int J Hematol. 2008;88(2):165-73. 

Lv L, Lin GW, Wang XQ, Bao LM & Zou HJ.  A case-control study of risk factors for myelodysplastic syndromes. J of Chin. Occup Health, 2007. 25, 705-709.

Clinical Interests

Lysosomal storage diseases; molecular enzymology; gaucher disease; Fabry disease; molecular pathogenesis

Research Interests

Molecular pathogenesis and therapy of human genetic disease

Xu YH, Sun Y, Barnes S, Grabowski GA. Comparative therapeutic effects of velaglucerase alfa and imiglucerase in a Gaucher disease mouse model. PLoS One. 2010 May 20;5(5):e10750.

Sun Y, Grabowski GA. Impaired autophagosomes and lysosomes in neuronopathic Gaucher disease. Autophagy. 2010 Jul;14:6(5).

Xu YH, Barnes S, Sun Y, Grabowski GA. Multi-system disorders of glycosphingolipid and ganglioside metabolism. J Lipid Res. 2010 Jul;51(7):1643-75.

Sun Y, Liou B, Ran H, Skelton MR, Williams MT, Vorhees CV, Kitatani K, Hannun YA, Witte DP, Xu YH, Grabowski GA. Neuronopathic Gaucher disease in the mouse: viable combined selective saposin C deficiency and mutant glucocerebrosidase (V394L) mice with glucosylsphingosine and glucosylceramide accumulation and progressive neurological deficits. Hum Mol Genet. 2010 Mar 15;19(6):1088-97.

Sun Y, Ran H, Zamzow M, Kitatani K, Skelton MR, Williams MT, Vorhees CV, Witte DP, Hannun YA, Grabowski GA. Specific saposin C deficiency: CNS impairment and acid beta-glucosidase effects in the mouse. Hum Mol Genet. 2010 Feb 15;19(4):634-47.

Sun Y, Liou B, Quinn B, Ran H, Xu YH, Grabowski GA. In vivo and ex vivo evaluation of L-type calcium channel blockers on acid beta-glucosidase in Gaucher disease mouse models. PLoS One. 2009 Oct 7;4(10):e7320.

Grabowski GA, Kacena K, Cole JA, Hollak CE, Zhang L, Yee J, Mistry PK, Zimran A, Charrow J, vom Dahl S. Dose-response relationships for enzyme replacement therapy with imiglucerase/alglucerase in patients with Gaucher disease type 1. Genet Med. 2009 Feb;11(2):92-100.

Liou B, Grabowski GA. Participation of asparagine 370 and glutamine 235 in the catalysis by acid beta-glucosidase: the enzyme deficient in Gaucher disease. Mol Genet Metab. 2009 May;97(1):65-74.

Grabowski GA. Phenotype, diagnosis, and treatment of Gaucher's disease. Lancet. 2008 Oct 4;372(9645):1263-71.

Schorry EK, Keddache M, Lanphear N, Rubinstein JH, Srodulski S, Fletcher D, Blough-Pfau RI, Grabowski GA. Genotype-phenotype correlations in Rubinstein-Taybi syndrome. Am J Med Genet A. 2008 Oct 1;146A(19):2512-9.

Molecular oncology

PhD: Fudan University, Shanghai, China, 1998.

Clinical Cytogenetics Training: Children’s Hospital of Philadelphia, Philadelphia, PA, 2010.

Jiang P, Josuea J, Li X, Glaser D, Li W, Brand JG, Margolskee RF, Reed DR, Beauchamp GK. Major Taste Loss in Carnivorous Mammals. PNAS. 2012.

Li X, Bachmanov AA, Maehashi K, Li W, Lim R, Brand JG, Beauchamp GK, Reed DR, Chloe Thai, Floriano WB. Sweet receptor gene variation and aspartame taste in primates and other species. Chemical Senses. 2011.

Conlin LK, Kramer W, Hutchinson A, Li X, Riethmann H, Hakonarson H, Hosain S, Spinner NB. Genetic architecture of chromosome Ring 20 syndrome. J Med Genet. 2011;48:1-9.

Li X, Glaser D, Li W, Beauchamp GK, Brand JG. Sweet receptor gene (Tas1r2) structure and preference for sweet stimuli in species of Carnivora. J of Heredity. 2009.

McDaniel AH, Li X, Tordoff MG, Bachmanov AA, Reed DR. A locus on mouse chromosome 9 (Adip5) affects the relative size of the gonadal but not retroperitoneal adipose depot. Mammalian Genome. 2006;17:1078-1092.

Li X, Li W, Wang H, Bayley DL, Cao J, Reed DR, Bachmanov AA, Huang L, Legrand-Defretin V, Beauchamp GK, Brand JG. Cats lack a sweet taste receptor. J of Nutrition. 2006 Jul;136(7S):1932S-1934S.

Li X, Li W, Wang H, Cao J, Maehashi K, Huang L, Bachmanov AA, Reed DR, Legrand-Defretin V, Beauchamp GK, Brand JG. Pseudogenization of a sweet receptor gene accounts for cats’ indifference toward sugar. PLoS Genetics. 2005;1:e3. 

Li X, Bachmanov AA, Li S, Chen Z, Tordoff MG, Beauchamp GK, de Jong PJ, Wu C, Chen L, West DB, Ross DA, Ohmen JD, Reed DR. Genetic, physical and comparative map of the subtelomeric region of mouse chromosome 4. Mammalian Genome. 2002;13:5-19.

Li X, Inoue M, Reed DR, Huque T, Puchalski RB, Tordoff MG, Ninomiya Y, Beauchamp GK, Bachmanov AA. High-resolution genetic mapping of the saccharin preference locus (Sac) and the putative sweet taste receptor (T1R1) gene to mouse distal chromosome 4. Mammalian Genome. 2001;12:13-16.

Bachmanov AA, Li X, Li S, Neira M, Beauchamp GK, Azen EA. High-resolution genetic mapping of the sucrose octaacetate taste aversion (Soa) locus on mouse chromosome 6. Mammalian Genome. 2001;12,695-699.

Clinical Interests

Craniofacial disorders, community genetics, growth disorders

Research Interests

Clinical and research interests in genetic etiologies and natural histories of craniofacial disorders and new syndrome delineation

MD: Wayne State University, Detroit, MI, 1975-1979.

Internship: University of Connecticut Integrated Program in Pediatrics, Farmington, CT, 1979-1980.

Residency: University of Connecticut Integrated Program in Pediatrics, Farmington, CT, 1980-1982.

Fellowship: University of Washington School of Medicine Division of Medical Genetics, Seattle, WA, 1982-1984.

Certification: American Board of Medical Genetics in Cytogenetics and Clinical Genetics, 1984; American Board of Pediatrics, 1985.

Zarate YA, Putnam PE, Saal HM. Intestinal malrotation in a patient with Pfeiffer syndrome type 2. Cleft Palate Craniofac J. 2010 Nov;47(6):638-41. Epub 2010 Feb 28.

Zarate YA, Martin LJ, Hopkin RJ, Bender PL, Zhang X, Saal HM. Evaluation of growth in patients with isolated cleft lip and/or cleft palate. Pediatrics. 2010 Mar;125(3):e543-9.

Knapke SC, Bender P, Prows C, Schultz JR, Saal HM. Parental perspectives of children born with cleft lip and/or palate: a qualitative assessment of suggestions for healthcare improvements and interventions. Cleft Palate Craniofac J. 2010 Mar;47(2):143-50.

Burrow TA, Saal HM, de Alarcon A, Martin LJ, Cotton RT, Hopkin RJ. Characterization of congenital anomalies in individuals with choanal atresia. Arch Otolaryngol Head Neck Surg. 2009 Jun;135(6):543-7.

Baboiu O, Collins M, Saal HM. Hepatic mesenchymal hamartoma: cytogenetic analysis of a case and review of the literature.  Pediatric Pathology 2008 Jul-Aug;11(4):295-299.

Kogan JM, Egelhoff JC, Saal HM, Interstitial deletion of 13q associated with polymicrogyria. Am J Med Genet 2008;146A(7):910-916.

Kotsopoulos J, Lubinski J, Lynch HT, Klijn J, Ghadirian P, Neuhausen SL, Kim-Sing C, Foulkes WD, Moller P, Isaacs C, Domchek S, Randall S, Offit K, Tung N, Ainsworth P, Gershoni-Baruch R, Eisen A, Daly M, Karlan B, Saal HM, Couch F, Pasini B, Wagner T, Friedman E, Rennert G, Eng C, Weitzel J, Sun P, Narod SA; The Hereditary Breast Cancer Clinical Study Group. Age at first birth and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers.  Breast Cancer Res Treat 2007;10(2)5:221-228.

Friedman, E, Kotsopoulos, J, Lubinski, J, Lynch, HT, Paviz, G, Neuhausen, SL, Isaacs, C, Weber, B, Foulkes, WD, Moller, P, Rosen, B, Kim-Sing, C, Gershoni-Baruch, R, Ainsworth, P, Daly, M, Tung, N, Eisen, A, Olopade, OI, Karlan, B, Saal, HM, Garber, JE, Rennert, G, Gilchrist, D, Eng, C, Offit, K, Osborne, M, Sun, P, Narod, SA. Spontaneous and therapeutic abortions and the risk of breast cancer among BRCA mutation carriers. Breast Cancer Res. 2006;8(2):R15.

Gronwald, J, Tung, N, Offit, K, Gershoni, R, Daly, M, Kim-Sing, C, Olsson, H, Ainsworth, P, Eisen, A,
Saal, H, Friedman, E, Olopade, O, Osborne, M, Weitzel, J, Lynch, H, Ghadirian, P, Lubinski, J, Sun P, Narod, SA al. (2006). Tamoxifen and contralateral breast cancer in BRCA1 and BRCA2 carriers: an update. Int J Cancer. 2006;118(9): 2281-4.

PhD: Medical Genetics, Indiana University School of Medicine, 1995.

Certification: American Board of Medical Genetics, Clinical Cytogenetics, 2002; Clinical Molecular Genetics, 2005.

 Mehta PA, Harris RE, Davies SM, Kim MO, Mueller R, Lampkin B, Mo J, Myers K, Smolarek TA. Numerical chromosomal changes and risk of development of myelodysplastic syndrome--acute myeloid leukemia in patients with Fanconi anemia. Cancer Genet Cytogenet. 2010 Dec;203(2):180-6.

El-Hattab AW, Smolarek TA, Walker ME, Schorry EK, Immken LL, Patel G, Abbott MA, Lanpher BC, Ou Z, Kang SH, Patel A, Scaglia F, Lupski JR, Cheung SW, Stankiewicz P. Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping. Hum Genet. 2009 Oct;126(4):589-602.

Suzuki T, Sakagami T, Rubin BK, Nogee LM, Wood RE, Zimmerman SL, Smolarek T, Dishop MK, Wert SE, Whitsett JA, Grabowski G, Carey BC, Stevens C, van der Loo JC, Trapnell BC. Familial pulmonary alveolar proteinosis caused by mutations in CSF2RA. J Exp Med. 2008 Nov 24;205(12):2703-10.

Bhatla D, Davies SM, Shenoy S, Harris RE, Crockett M, Shoultz L, Smolarek T, Bleesing J, Hansen M, Jodele S, Jordan M, Filipovich AH, Mehta PA. Reduced-intensity conditioning is effective and safe for transplantation of patients with Shwachman-Diamond syndrome. Bone Marrow Transplant. 2008 Aug;42(3):159-65.

Zarate YA, Kogan JM, Schorry EK, Smolarek TA, Hopkin RJ. A new case of de novo 11q duplication in a patient with normal development and intelligence and review of the literature. Am J Med Genet A. 2007 Feb 1;143(3):265-70.

Mehta PA, Ileri T, Harris RE, Williams DA, Mo J, Smolarek T, Auerbach AD, Kelly P, Davies SM. Chemotherapy for myeloid malignancy in children with Fanconi anemia. Pediatr Blood Cancer. 2007 Jun 15;48(7):668-72.

D’Armiento J, Imai K, Schiltz J, Kolesnekova N, Sternberg D, Benson K, Pardo A, Selman M, Smolarek T, Vundavalli M, Sonnet J, Szabolcs M and Chada K. Identification of the Benign Mesenchymal Tumor Gene, HMGA2, in Lymphangiomyomatosis (LAM). Cancer Research. 2007;67(5):1902-1909.

Clinical Interests

Clinical cytogenetics; molecular genetics

Research Interests

Genome-wide analysis for chromosome aberrations in congenital disorders; cancer using molecular cytogenetic techniques 

BS: Heidelberg College, Tiffin, OH 2001.

PhD: University of Dayton, Dayton, OH, 2007.

Fellowship: Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, 2009.

Sellars EA, Zimmerman SL, Smolarek T, Hopkin RJ. Ventricular noncompaction and absent thumbs in a newborn with tetrasomy 5q35.2-5q35.3: An association with Hunter-McAlpine syndrome? Am J Med Genet A. 2011 Jun;155A(6):1409-13.

Myers K, Davies SM, Harris RE, Spunt SL, Smolarek T, Zimmerman S, McMasters R, Wagner L, Mueller R, Auerbach AD, Mehta PA. The Clinical Phenotype of Children With Fanconi Anemia Caused by Biallelic FANCD1/BRCA2 Mutations. Pediatr Blood Cancer. 2011.

Suzuki T, Sakagami T, Rubin BK, Nogee LM, Wood RE, Zimmerman SL, Smolarek T, Dishop MK, Wert SE, Whitsett JA, Grabowski G, Carey BC, Stevens C, van der Loo JC, Trapnell BC. Familial pulmonary alveolar proteinosis caused by mutations in CSF2RA. J Exp Med. 2008 Nov 24;205(12): 2703-10.

Zimmerman SL, Frisbie J, Goldstein D, West J, Rivera K, Krane CM. Excretion and conservation of glycerol, expression of aquaporins and glyceroporins, during cold acclimation in Cope’s Gray Treefrog, Hyla chrysoscelis. Am J Physiol Regu Integr Comp Physiol. 2007 Jan;292: R544-R555.

BS: Genetics: Purdue University, West Lafayette, IN, 2005.

MS: Genetic Counseling: Case Western Reserve University, Cleveland, OH, 2009.

Lipscomb Sund K, Roelke S, Ramachandran V, Durbin L, Benson DW. Analysis of Ellis van Creveld syndrome gene products; Implications for cardiovascular development and disease. Human Molecular Genetics. 2009 May;18(10):1813-1824.

Lipscomb K, Schmitt C, Sablyak A, Yoder J, Nascone-Yoder N. Role for retinoid signaling in left-right asymmetric digestive organ morphogenesis, Dev Dyn. 2006 Aug; 235(8):2266-2275.

Book Chapters

Lipscomb Sund K, Rame Gowda S, Benson DW. Adults with congenital heart disease: A genetic perspective. In Gatzoulis MA, Webb GD, and Daubeney PEF (eds) Adult Congenital Heart Disease. New York: Elseiver, 2009.