Chromosome Aberrations; Cytogenetics; Genetics
Chromosome abnormalities have been common causes for human embryonic failure, fetus anomalies, developmental delay, mental retardation, behavior disorders, cancer initiation and progression. My lab has provided clinical diagnosis and genetic screening for patients suspected with chromosomal abnormalities and genomic defects. Molecular methods such as BAC-clone fluorescence in situ hybridization (FISH) mapping, microsatellite allelotyping, SNP genotyping, and sequencing analysis of gene mutations have been used to delineate recognized chromosomal abnormalities. We have validated high through-put genome-wide oligonucleotide microarray analysis for clinical diagnosis of submicroscopic deletions/duplications and for mapping rearrangement breakpoints. We are initiating functional analysis using biochemical and genetic approaches on model animals. The goals of this laboratory are to identify disease-causing genes or genetic markers of diagnostic and prognostic values, to dissect underlying molecular mechanisms, and to develop diagnostic and therapeutic approaches for patients with chromosomal and genomic aberrations.
Specialized Terms: Cytogenetic and genomic analysis; Dissection of genetic mechanisms for growth regulation, mental development, and cancer progression
Analytical and clinical validity of whole genome oligonucleotide array comparative genomic hybridization for pediatric patients with mental retardation and developmental delay.
Xiang B, Li A, Valentin D, Novak N, Zhao HY, Li P. Analytical and clinical validity of whole genome oligonucleotide array comparative genomic hybridization for pediatric patients with mental retardation and developmental delay. Am J Med Genet 2008;146A:1
A translocation causing increased a-Klotho level results in hypophosphatemic rickets and hyperparathyroidism.
Brownstein CA, Adler F, Nelson-Williams C, Lijima J, Li P, Imura A, Nabeshima Y, Reyes-Mugica M, Carpenter, Lifton RP. A translocation causing increased a-Klotho level results in hypophosphatemic rickets and hyperparathyroidism. Proc Natl Acad Sci USA 2008;105:3455-3460.
Karyotype-penotype insights from 11q14.1-q23.2 interstitial deletions: FZD4 haploinsufficiency and exudative vitroretinopathy in a patient with a complex chromosome rearrangement.
Li, P., et al. (2006). Karyotype-penotype insights from 11q14.1-q23.2 interstitial deletions: FZD4 haploinsufficiency and exudative vitroretinopathy in a patient with a complex chromosome rearrangement. Am. J. Med. Genet. 140A:2721-2729.
FOXC1 gene deletion is associated with eye anomalies in ring chromosome 6.
Zhang, H., et al. (2004). FOXC1 gene deletion is associated with eye anomalies in ring chromosome 6. Am. J. Med. Genet. 124A:280-287.
Diversity of mutations and distribution of single nucleotide polymorphic alleles in the human alpha-L-iduronidase (IDUA) gene.
Li P, Wood T, Thompson JN, Diversity of mutations and distribution of single nucleotide polymorphic alleles in the human alpha-L-iduronidase (IDUA) gene, Genetics in Medicine : Official Journal of the American College of Medical Genetics., 4(6):420-6, 2002
Gentamicin-mediated suppression of Hurler syndrome stop mutations restores a low level of alpha-L-iduronidase activity and reduces lysosomal glycosaminoglycan accumulation.
Keeling KM, Brooks DA, Hopwood JJ, Li P, Thompson JN, Bedwell DM, Gentamicin-mediated suppression of Hurler syndrome stop mutations restores a low level of alpha-L-iduronidase activity and reduces lysosomal glycosaminoglycan accumulation, Human Molecular Genetics, 10(3):291-9, February 2001
Full List of PubMed Publications
- Wang Q, Geng Q, Zhou Q, Luo F, Li P, Xie J: De novo paternal origin duplication of chromosome 11p15.5: report of two Chinese cases with Beckwith-Wiedemann syndrome. Mol Cytogenet. 2017; 2017 Dec 19. PMID: 29270226
- Luo J, Qin L, Kural MH, Schwan J, Li X, Bartulos O, Cong XQ, Ren Y, Gui L, Li G, Ellis MW, Li P, Kotton DN, Dardik A, Pober JS, Tellides G, Rolle M, Campbell S, Hawley RJ, Sachs DH, Niklason LE, Qyang Y: Vascular smooth muscle cells derived from inbred swine induced pluripotent stem cells for vascular tissue engineering. Biomaterials. 2017 Dec; 2017 Sep 19. PMID: 28942128
- Wu W, Geng Q, Liu Y, Xu Z, Li P, Xie J: Prenatal Diagnosis of Twin Fetuses with a Novel AR Gene Mutation in a Chinese Family of Complete Androgen Insensitivity Syndrome. Fetal Pediatr Pathol. 2017 Dec; 2017 Dec 5. PMID: 29206494
- Furey CG, Timberlake AT, Nelson-Williams C, Duran D, Li P, Jackson EM, Kahle KT: Xp22.2 Chromosomal Duplication in Familial Intracranial Arachnoid Cyst. JAMA Neurol. 2017 Dec 1. PMID: 29052703
- Wu W, Liu Y, Zhou Q, Wang Q, Luo F, Xu Z, Geng Q, Li P, Zhang HZ, Xie J: Novel homozygous FANCL mutation and somatic heterozygous SETBP1 mutation in a Chinese girl with Fanconi Anemia. Eur J Med Genet. 2017 Jul; 2017 Apr 15. PMID: 28419882
- Weed J, Gibson J, Lewis J, Carlson K, Foss F, Choi J, Li P, Girardi M: FISH Panel for Leukemic CTCL. J Invest Dermatol. 2017 Mar; 2016 Nov 8. PMID: 27836797
- Hudnall SD, Meng H, Lozovatsky L, Li P, Strout M, Kleinstein SH: Recurrent genetic defects in classical Hodgkin lymphoma cell lines. Leuk Lymphoma. 2016 Dec; 2016 Apr 27. PMID: 27121023
- Cui C, Shu W, Li P: Fluorescence In situ Hybridization: Cell-Based Genetic Diagnostic and Research Applications. Front Cell Dev Biol. 2016; 2016 Sep 5. PMID: 27656642
- Zhou Q, Wu SY, Amato K, DiAdamo A, Li P: Spectrum of Cytogenomic Abnormalities Revealed by Array Comparative Genomic Hybridization on Products of Conception Culture Failure and Normal Karyotype Samples. J Genet Genomics. 2016 Mar 20; 2016 Feb 13. PMID: 27020032
- Wang Q, Wu W, Xu Z, Luo F, Zhou Q, Li P, Xie J: Copy number changes and methylation patterns in an isodicentric and a ring chromosome of 15q11-q13: report of two cases and review of literature. Mol Cytogenet. 2015; 2015 Dec 21. PMID: 26697114
- Meng J, Matarese C, Crivello J, Wilcox K, Wang D, DiAdamo A, Xu F, Li P: Changes in and Efficacies of Indications for Invasive Prenatal Diagnosis of Cytogenomic Abnormalities: 13 Years of Experience in a Single Center. Med Sci Monit. 2015 Jul 5; 2015 Jul 5. PMID: 26143093
- Xu Z, Geng Q, Luo F, Xu F, Li P, Xie J: Multiplex ligation-dependent probe amplification and array comparative genomic hybridization analyses for prenatal diagnosis of cytogenomic abnormalities. Mol Cytogenet. 2014; 2014 Dec 9. PMID: 25530804
- Bogardus H, Schulz VP, Maksimova Y, Miller BA, Li P, Forget BG, Gallagher PG: Severe nondominant hereditary spherocytosis due to uniparental isodisomy at the SPTA1 locus. Haematologica. 2014 Sep; 2014 Jun 3. PMID: 24895341
- Buza N, Xu F, Wu W, Carr RJ, Li P, Hui P: Recurrent chromosomal aberrations in intravenous leiomyomatosis of the uterus: high-resolution array comparative genomic hybridization study. Hum Pathol. 2014 Sep; 2014 Jun 5. PMID: 25033729
- Xu F, Li L, Schulz VP, Gallagher PG, Xiang B, Zhao H, Li P: Cytogenomic mapping and bioinformatic mining reveal interacting brain expressed genes for intellectual disability. Mol Cytogenet. 2014 Jan 10; 2014 Jan 10. PMID: 24410907
- Hoang D, Sue GR, Xu F, Li P, Narayan D: Absence of aneuploidy and gastrointestinal tumours in a man with a chromosomal 2q13 deletion and BUB1 monoallelic deficiency. BMJ Case Rep. 2013 Feb 25; 2013 Feb 25. PMID: 23440991
- Wei Y, Xu F, Li P: Technology-driven and evidence-based genomic analysis for integrated pediatric and prenatal genetics evaluation. J Genet Genomics. 2013 Jan 20; 2012 Dec 27. PMID: 23357340
- Parisi F, Micsinai M, Strino F, Ariyan S, Narayan D, Bacchiocchi A, Cheng E, Xu F, Li P, Kluger H, Halaban R, Kluger Y: Integrated analysis of tumor samples sheds light on tumor heterogeneity. Yale J Biol Med. 2012 Sep; 2012 Sep 25. PMID: 23012583
- Wei Y, Gao X, Yan L, Xu F, Li P, Zhao Y: Prenatal diagnosis and postnatal followup of partial trisomy 13q and partial monosomy 10p: a case report and review of the literature. Case Rep Genet. 2012; 2012 Oct 23. PMID: 23133763
- Khattab M, Xu F, Li P, Bhandari V: A de novo 3.54 Mb deletion of 17q22-q23.1 associated with hydrocephalus: a case report and review of literature. Am J Med Genet A. 2011 Dec; 2011 Nov 3. PMID: 22052796
- Lin ZP, Lee Y, Lin F, Belcourt MF, Li P, Cory JG, Glazer PM, Sartorelli AC: Reduced level of ribonucleotide reductase R2 subunits increases dependence on homologous recombination repair of cisplatin-induced DNA damage. Mol Pharmacol. 2011 Dec; 2011 Aug 29. PMID: 21875941
- Massaro SA, Bajaj R, Pashankar FD, Ornstein D, Gallagher PG, Krause DS, Li P: Bi-allelic deletions within 13q14 and transient trisomy 21 with absence of GATA1s in pediatric acute megakaryoblastic leukemia. Pediatr Blood Cancer. 2011 Sep; 2011 Apr 29. PMID: 21538823
- Li P, Pomianowski P, DiMaio MS, Florio JR, Rossi MR, Xiang B, Xu F, Yang H, Geng Q, Xie J, Mahoney MJ: Genomic characterization of prenatally detected chromosomal structural abnormalities using oligonucleotide array comparative genomic hybridization. Am J Med Genet A. 2011 Jul; 2011 Jun 10. PMID: 21671377
- Parisi F, Ariyan S, Narayan D, Bacchiocchi A, Hoyt K, Cheng E, Xu F, Li P, Halaban R, Kluger Y: Detecting copy number status and uncovering subclonal markers in heterogeneous tumor biopsies. BMC Genomics. 2011 May 11; 2011 May 11. PMID: 21569352
- Rivkees SA, Hager K, Hosono S, Wise A, Li P, Rinder HM, Gruen JR: A highly sensitive, high-throughput assay for the detection of Turner syndrome. J Clin Endocrinol Metab. 2011 Mar; 2010 Dec 22. PMID: 21177792
- Bajaj R, Xu F, Xiang B, Wilcox K, Diadamo AJ, Kumar R, Pietraszkiewicz A, Halene S, Li P: Evidence-based genomic diagnosis characterized chromosomal and cryptic imbalances in 30 elderly patients with myelodysplastic syndrome and acute myeloid leukemia. Mol Cytogenet. 2011 Jan 20; 2011 Jan 20. PMID: 21251322
- Donnelly MP, Paschou P, Grigorenko E, Gurwitz D, Mehdi SQ, Kajuna SL, Barta C, Kungulilo S, Karoma NJ, Lu RB, Zhukova OV, Kim JJ, Comas D, Siniscalco M, New M, Li P, Li H, Manolopoulos VG, Speed WC, Rajeevan H, Pakstis AJ, Kidd JR, Kidd KK: The distribution and most recent common ancestor of the 17q21 inversion in humans. Am J Hum Genet. 2010 Feb 12; 2010 Jan 28. PMID: 20116045
- Rossi MR, DiMaio MS, Xiang B, Lu K, Kaymakcalan H, Seashore M, Mahoney MJ, Li P: Clinical and genomic characterization of distal duplications and deletions of chromosome 4q: study of two cases and review of the literature. Am J Med Genet A. 2009 Dec. PMID: 19921640
- Xiang B, Li A, Valentin D, Nowak NJ, Zhao H, Li P: Analytical and clinical validity of whole-genome oligonucleotide array comparative genomic hybridization for pediatric patients with mental retardation and developmental delay. Am J Med Genet A. 2008 Aug 1. PMID: 18627053
- Kamath A, Tara H, Xiang B, Bajaj R, He W, Li P: Double-minute MYC amplification and deletion of MTAP, CDKN2A, CDKN2B, and ELAVL2 in an acute myeloid leukemia characterized by oligonucleotide-array comparative genomic hybridization. Cancer Genet Cytogenet. 2008 Jun. PMID: 18503831
- Brownstein CA, Adler F, Nelson-Williams C, Iijima J, Li P, Imura A, Nabeshima Y, Reyes-Mugica M, Carpenter TO, Lifton RP: A translocation causing increased alpha-klotho level results in hypophosphatemic rickets and hyperparathyroidism. Proc Natl Acad Sci U S A. 2008 Mar 4; 2008 Feb 28. PMID: 18308935
- De Stefano D, Li P, Xiang B, Hui P, Zambrano E: Pulmonary atresia with intact ventricular septum (PA-IVS) in monozygotic twins. Am J Med Genet A. 2008 Feb 15. PMID: 18203206
- Li P, Zhang HZ, Huff S, Nimmakayalu M, Qumsiyeh M, Yu J, Szekely A, Xu T, Pober BR: Karyotype-phenotype insights from 11q14.1-q23.2 interstitial deletions: FZD4 haploinsufficiency and exudative vitreoretinopathy in a patient with a complex chromosome rearrangement. Am J Med Genet A. 2006 Dec 15. PMID: 17103440
- Xiang B, Li P, Hemingway SS, Qumsiyeh M: CytoAccess, a relational laboratory information management system for a clinical cytogenetics laboratory. J Assoc Genet Technol. 2006. PMID: 17130662
- Zhang HZ, Li P, Wang D, Huff S, Nimmakayalu M, Qumsiyeh M, Pober BR: FOXC1 gene deletion is associated with eye anomalies in ring chromosome 6. Am J Med Genet A. 2004 Jan 30. PMID: 14708101
- Li P, Wood T, Thompson JN: Diversity of mutations and distribution of single nucleotide polymorphic alleles in the human alpha-L-iduronidase (IDUA) gene. Genet Med. 2002 Nov-Dec. PMID: 12509712