Peining Li, PhD

• Allen Bale
• Anna Szekely
• Chen Zhao
• Diane Krause
• Farzana Pashankar
• Francine Foss
• Harold Tara
• Harriet Kluger
• Henry Rinder
• Hongyu Zhao
• Jeffrey R Gruen
• Jennifer Burton
• Jia Di Wen
• Katherine Amato
• Kenneth Kidd
• Michael Girardi
• Michele Spencer-Manzon
• Murat Gunel
• Natalia Buza
• Patrick Gallagher
• Pei Hui
• Ruth Halaban
• Stanley Hudnall
• Stephanie Halene
• Thomas Carpenter
• Uma Reddy
• Weizhen Ji
• Xiting Yan
• Yibing Qyang
• Yong-Hui Jiang
• Z. Ping Lin

Chromosome Aberrations; Cytogenetics; Genetics

• Integrated exome sequencing and microarray analyses detected genetic defects and underlying pathways of hepatocellular carcinomaChong M, Knight J, Peng G, Ji W, Chai H, Lu Y, Wu S, Li P, Hu Q. Integrated exome sequencing and microarray analyses detected genetic defects and underlying pathways of hepatocellular carcinoma. Cancer Genetics 2023, 276: 30-35. PMID: 37418972, DOI: 10.1016/j.cancergen.2023.06.002.
• Estimation on risk of spontaneous abortions by genomic disorders from a meta‐analysis of microarray results on large case series of pregnancy lossesPeng G, Zhou Q, Chai H, Wen J, Zhao H, Taylor H, Jiang Y, Li P. Estimation on risk of spontaneous abortions by genomic disorders from a meta‐analysis of microarray results on large case series of pregnancy losses. Molecular Genetics & Genomic Medicine 2023, 11: e2181. PMID: 37013615, PMCID: PMC10422064, DOI: 10.1002/mgg3.2181.
• Exome Sequencing Analysis on Products of Conception: A Cohort Study to Evaluate Clinical Utility and Genetic Etiology for Pregnancy LossZhao C, Chai H, Zhou Q, Wen J, Reddy U, Kastury R, Jiang Y, Mak W, Bale A, Zhang H, Li P. Exome Sequencing Analysis on Products of Conception: A Cohort Study to Evaluate Clinical Utility and Genetic Etiology for Pregnancy Loss. Obstetrical & Gynecological Survey 2021, 76: 468-469. DOI: 10.1097/01.ogx.0000791680.43228.b1.
• A review of consensus statements, practice resources, standards and guidelines for clinical applications of next-generation sequencing technologies in the United StatesZhao C, Xie X, Ji W, Qi M, Zhou Q, Li M, Li P, Jiang Y, Zhang H. A review of consensus statements, practice resources, standards and guidelines for clinical applications of next-generation sequencing technologies in the United States. 中华医学遗传学杂志 2021, 38: 513-520. PMID: 34096016, DOI: 10.3760/cma.j.cn511374-20200924-00691.
• Correlating genomic copy number alterations with clinicopathologic findings in 75 cases of hepatocellular carcinomaPeng G, Chai H, Ji W, Lu Y, Wu S, Zhao H, Li P, Hu Q. Correlating genomic copy number alterations with clinicopathologic findings in 75 cases of hepatocellular carcinoma. BMC Medical Genomics 2021, 14: 150. PMID: 34103027, PMCID: PMC8185937, DOI: 10.1186/s12920-021-00998-9.
• Experience and lessons on guiding and governing clinical applications of chromosome microarray analysis in the United StatesXie X, Yu J, Qi Z, Bao L, Shen Y, Chen T, Li P. Experience and lessons on guiding and governing clinical applications of chromosome microarray analysis in the United States. 中华医学遗传学杂志 2021, 38: 419-424. PMID: 33974247, DOI: 10.3760/cma.j.cn511374-20200924-00690.
• Detection of cytogenomic abnormalities by OncoScan microarray assay for products of conception from formalin-fixed paraffin-embedded and fresh fetal tissuesWen J, Grommisch B, DiAdamo A, Chai H, Ng SME, Hui P, Bale A, Mak W, Wang G, Li P. Detection of cytogenomic abnormalities by OncoScan microarray assay for products of conception from formalin-fixed paraffin-embedded and fresh fetal tissues. Molecular Cytogenetics 2021, 14: 21. PMID: 33810806, PMCID: PMC8019165, DOI: 10.1186/s13039-021-00542-5.
• Cytogenomic Abnormalities in 19 Cases of Salivary Gland Tumors of Parotid Gland OriginZerjav M, DiAdamo A, Grommisch B, Katherine A, Chai H, Peng G, Li P. Cytogenomic Abnormalities in 19 Cases of Salivary Gland Tumors of Parotid Gland Origin. Case Reports In Genetics 2020, 2020: 8897541. PMID: 33343950, PMCID: PMC7725583, DOI: 10.1155/2020/8897541.
• Exome sequencing analysis on products of conception: a cohort study to evaluate clinical utility and genetic etiology for pregnancy lossZhao C, Chai H, Zhou Q, Wen J, Reddy UM, Kastury R, Jiang Y, Mak W, Bale AE, Zhang H, Li P. Exome sequencing analysis on products of conception: a cohort study to evaluate clinical utility and genetic etiology for pregnancy loss. Genetics In Medicine 2020, 23: 435-442. PMID: 33100332, DOI: 10.1038/s41436-020-01008-6.
• Ring chromosome formation by intra‐strand repairing of subtelomeric double stand breaks and clinico‐cytogenomic correlations for ring chromosome 9Chai H, Ji W, Wen J, DiAdamo A, Grommisch B, Hu Q, Szekely AM, Li P. Ring chromosome formation by intra‐strand repairing of subtelomeric double stand breaks and clinico‐cytogenomic correlations for ring chromosome 9. American Journal Of Medical Genetics Part A 2020, 182: 3023-3028. PMID: 32978894, DOI: 10.1002/ajmg.a.61890.
• Diagnostic cytogenetic testing following positive noninvasive prenatal screening results of sex chromosome abnormalities: Report of five cases and systematic review of evidenceXie X, Tan W, Li F, Carrano E, Ramirez P, DiAdamo A, Grommisch B, Amato K, Chai H, Wen J, Li P. Diagnostic cytogenetic testing following positive noninvasive prenatal screening results of sex chromosome abnormalities: Report of five cases and systematic review of evidence. Molecular Genetics & Genomic Medicine 2020, 8: e1297. PMID: 32383339, PMCID: PMC7336728, DOI: 10.1002/mgg3.1297.
• Molecular and clinicopathologic characterization of intravenous leiomyomatosisOrdulu Z, Chai H, Peng G, McDonald AG, De Nictolis M, Garcia-Fernandez E, Hardisson D, Prat J, Li P, Hui P, Oliva E, Buza N. Molecular and clinicopathologic characterization of intravenous leiomyomatosis. Modern Pathology 2020, 33: 1844-1860. PMID: 32341498, PMCID: PMC7483566, DOI: 10.1038/s41379-020-0546-8.
• Principles guiding the development of clinical practice guidelines for medical genetics and genomics specialtyHuang T, Li P. Principles guiding the development of clinical practice guidelines for medical genetics and genomics specialty. 中华医学遗传学杂志 2020, 37: 219-225. PMID: 32128736, DOI: 10.3760/cma.j.issn.1003-9406.2020.03.001.
• A Retrospective Analysis of 10-Year Data Assessed the Diagnostic Accuracy and Efficacy of Cytogenomic Abnormalities in Current Prenatal and Pediatric SettingsChai H, DiAdamo A, Grommisch B, Xu F, Zhou Q, Wen J, Mahoney M, Bale A, McGrath J, Spencer-Manzon M, Li P, Zhang H. A Retrospective Analysis of 10-Year Data Assessed the Diagnostic Accuracy and Efficacy of Cytogenomic Abnormalities in Current Prenatal and Pediatric Settings. Frontiers In Genetics 2019, 10: 1162. PMID: 31850057, PMCID: PMC6902283, DOI: 10.3389/fgene.2019.01162.
• Inverted duplication, triplication and quintuplication through sequential breakage‐fusion‐bridge events induced by a terminal deletion at 5p in a case of spontaneous abortionChai H, Grommisch B, DiAdamo A, Wen J, Hui P, Li P. Inverted duplication, triplication and quintuplication through sequential breakage‐fusion‐bridge events induced by a terminal deletion at 5p in a case of spontaneous abortion. Molecular Genetics & Genomic Medicine 2019, 7: e00965. PMID: 31478360, PMCID: PMC6785443, DOI: 10.1002/mgg3.965.
• Efficient genome-wide first-generation phenotypic screening system in mice using the piggyBac transposonChang H, Pan Y, Landrette S, Ding S, Yang D, Liu L, Tian L, Chai H, Li P, Li DM, Xu T. Efficient genome-wide first-generation phenotypic screening system in mice using the piggyBac transposon. Proceedings Of The National Academy Of Sciences Of The United States Of America 2019, 116: 18507-18516. PMID: 31451639, PMCID: PMC6744845, DOI: 10.1073/pnas.1906354116.
• 1q21.1 Deletions and Duplications in 2 Siblings with Psychiatric ProblemsKaymakçalan H, Li P. 1q21.1 Deletions and Duplications in 2 Siblings with Psychiatric Problems. Indian Journal Of Pediatrics 2019, 86: 1068-1068. PMID: 31270733, DOI: 10.1007/s12098-019-03014-2.
• A Cell‐free DNA Barcode‐Enabled Single‐Molecule Test for Noninvasive Prenatal Diagnosis of Monogenic Disorders: Application to β‐ThalassemiaYang X, Zhou Q, Zhou W, Zhong M, Guo X, Wang X, Fan X, Yan S, Li L, Lai Y, Wang Y, Huang J, Ye Y, Zeng H, Chuan J, Du Y, Ma C, Li P, Song Z, Xu X. A Cell‐free DNA Barcode‐Enabled Single‐Molecule Test for Noninvasive Prenatal Diagnosis of Monogenic Disorders: Application to β‐Thalassemia. Advanced Science 2019, 6: 1802332. PMID: 31179213, PMCID: PMC6548944, DOI: 10.1002/advs.201802332.
• Analytical validation and chromosomal distribution of regions of homozygosity by oligonucleotide array comparative genomic hybridization from normal prenatal and postnatal case seriesWen J, Comerford K, Xu Z, Wu W, Amato K, Grommisch B, DiAdamo A, Xu F, Chai H, Li P. Analytical validation and chromosomal distribution of regions of homozygosity by oligonucleotide array comparative genomic hybridization from normal prenatal and postnatal case series. Molecular Cytogenetics 2019, 12: 12. PMID: 30886647, PMCID: PMC6404290, DOI: 10.1186/s13039-019-0424-6.
• Integrated FISH, Karyotyping and aCGH Analyses for Effective Prenatal Diagnosis of Common Aneuploidies and Other Cytogenomic AbnormalitiesChai H, DiAdamo A, Grommisch B, Boyle J, Amato K, Wang D, Wen J, Li P. Integrated FISH, Karyotyping and aCGH Analyses for Effective Prenatal Diagnosis of Common Aneuploidies and Other Cytogenomic Abnormalities. Medical Sciences 2019, 7: 16. PMID: 30678103, PMCID: PMC6410168, DOI: 10.3390/medsci7020016.
• [A practice-based competencies training, certifying and evaluating system for genetic counseling in the United States].Chai H, Wang W, Shang X, Li P. [A practice-based competencies training, certifying and evaluating system for genetic counseling in the United States]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal Of Medical Genetics 2019, 36: 37-43. PMID: 30722091, DOI: 10.3760/cma.j.issn.1003-9406.2019.01.007.
• ERas Enhances Resistance to Cisplatin-Induced Apoptosis by Suppressing Autophagy in Gastric Cancer Cell.Tian H, Wang W, Meng X, Wang M, Tan J, Jia W, Li P, Li J, Zhou Q. ERas Enhances Resistance to Cisplatin-Induced Apoptosis by Suppressing Autophagy in Gastric Cancer Cell. Frontiers In Cell And Developmental Biology 2019, 7: 375. PMID: 32083074, PMCID: PMC7005724, DOI: 10.3389/fcell.2019.00375.
• 6. Human ring chromosome registry: Developing an interactive web resource for constitutional and cancer cytogenomic diagnosisLi P, DiAdamo A, Grommisch B, Chai H, Hu Q. 6. Human ring chromosome registry: Developing an interactive web resource for constitutional and cancer cytogenomic diagnosis. Cancer Genetics 2018, 226: 38. DOI: 10.1016/j.cancergen.2018.04.067.
• Jumping Translocations of 1q in Myelodysplastic Syndrome and Acute Myeloid Leukemia: Report of Three Cases and Review of LiteratureCouture T, Amato K, DiAdamo A, Li P. Jumping Translocations of 1q in Myelodysplastic Syndrome and Acute Myeloid Leukemia: Report of Three Cases and Review of Literature. Case Reports In Genetics 2018, 2018: 8296478. PMID: 30271640, PMCID: PMC6151220, DOI: 10.1155/2018/8296478.
• Human ring chromosome registry for cases in the Chinese population: re-emphasizing Cytogenomic and clinical heterogeneity and reviewing diagnostic and treatment strategiesHu Q, Chai H, Shu W, Li P. Human ring chromosome registry for cases in the Chinese population: re-emphasizing Cytogenomic and clinical heterogeneity and reviewing diagnostic and treatment strategies. Molecular Cytogenetics 2018, 11: 19. PMID: 29492108, PMCID: PMC5828142, DOI: 10.1186/s13039-018-0367-3.
• De novo paternal origin duplication of chromosome 11p15.5: report of two Chinese cases with Beckwith-Wiedemann syndromeWang 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. Molecular Cytogenetics 2017, 10: 46. PMID: 29270226, PMCID: PMC5738159, DOI: 10.1186/s13039-017-0347-z.
• Xp22.2 Chromosomal Duplication in Familial Intracranial Arachnoid CystFurey CG, Timberlake AT, Nelson-Williams C, Duran D, Li P, Jackson EM, Kahle KT. Xp22.2 Chromosomal Duplication in Familial Intracranial Arachnoid Cyst. JAMA Neurology 2017, 74: 1503-1504. PMID: 29052703, PMCID: PMC5822190, DOI: 10.1001/jamaneurol.2017.3399.
• Prenatal Diagnosis of Twin Fetuses with a Novel AR Gene Mutation in a Chinese Family of Complete Androgen Insensitivity SyndromeWu 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 And Pediatric Pathology 2017, 36: 432-436. PMID: 29206494, DOI: 10.1080/15513815.2017.1332120.
• Vascular smooth muscle cells derived from inbred swine induced pluripotent stem cells for vascular tissue engineeringLuo 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, 147: 116-132. PMID: 28942128, PMCID: PMC5638652, DOI: 10.1016/j.biomaterials.2017.09.019.
• Novel homozygous FANCL mutation and somatic heterozygous SETBP1 mutation in a Chinese girl with Fanconi AnemiaWu 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. European Journal Of Medical Genetics 2017, 60: 369-373. PMID: 28419882, DOI: 10.1016/j.ejmg.2017.04.008.
• Laboratory information systemLi P, Van Rheeden R. Laboratory information system. 2017, 1045-1053. DOI: 10.1002/9781119061199.ch23.
• Familial GPC3 and GPC4-TFDP3 deletions at Xq26 associated with Simpson-Golabi-Behmel syndromeDiMaio M, Yang H, Mahoney M, McGrath J, Li P. Familial GPC3 and GPC4-TFDP3 deletions at Xq26 associated with Simpson-Golabi-Behmel syndrome. Human Gene 2017, 11: 147-151. DOI: 10.1016/j.mgene.2016.08.008.
• FISH Panel for Leukemic CTCLWeed J, Gibson J, Lewis J, Carlson K, Foss F, Choi J, Li P, Girardi M. FISH Panel for Leukemic CTCL. Journal Of Investigative Dermatology 2016, 137: 751-753. PMID: 27836797, PMCID: PMC5419071, DOI: 10.1016/j.jid.2016.10.037.
• Fluorescence In situ Hybridization: Cell-Based Genetic Diagnostic and Research ApplicationsCui C, Shu W, Li P. Fluorescence In situ Hybridization: Cell-Based Genetic Diagnostic and Research Applications. Frontiers In Cell And Developmental Biology 2016, 4: 89. PMID: 27656642, PMCID: PMC5011256, DOI: 10.3389/fcell.2016.00089.
• 071 Novel FISH probe panel for the detection of gene copy number alterations in CTCLWeed J, Gibson J, Lewis J, Carlson K, Foss F, Choi J, Li P, Girardi M. 071 Novel FISH probe panel for the detection of gene copy number alterations in CTCL. Journal Of Investigative Dermatology 2016, 136: s13. DOI: 10.1016/j.jid.2016.02.097.
• Recurrent genetic defects in classical Hodgkin lymphoma cell linesHudnall SD, Meng H, Lozovatsky L, Li P, Strout M, Kleinstein SH. Recurrent genetic defects in classical Hodgkin lymphoma cell lines. Leukemia & Lymphoma 2016, 57: 2890-2900. PMID: 27121023, DOI: 10.1080/10428194.2016.1177179.
• Spectrum of Cytogenomic Abnormalities Revealed by Array Comparative Genomic Hybridization on Products of Conception Culture Failure and Normal Karyotype SamplesZhou 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. Journal Of Genetics And Genomics 2016, 43: 121-131. PMID: 27020032, DOI: 10.1016/j.jgg.2016.02.002.
• Copy number changes and methylation patterns in an isodicentric and a ring chromosome of 15q11-q13: report of two cases and review of literatureWang 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. Molecular Cytogenetics 2015, 8: 97. PMID: 26697114, PMCID: PMC4687147, DOI: 10.1186/s13039-015-0198-4.
• Changes in and Efficacies of Indications for Invasive Prenatal Diagnosis of Cytogenomic Abnormalities: 13 Years of Experience in a Single CenterMeng 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. Medical Science Monitor 2015, 21: 1942-1948. PMID: 26143093, PMCID: PMC4497468, DOI: 10.12659/msm.893870.
• Multiplex ligation-dependent probe amplification and array comparative genomic hybridization analyses for prenatal diagnosis of cytogenomic abnormalitiesXu 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. Molecular Cytogenetics 2014, 7: 84. PMID: 25530804, PMCID: PMC4271441, DOI: 10.1186/s13039-014-0084-5.
• Recurrent chromosomal aberrations in intravenous leiomyomatosis of the uterus: high-resolution array comparative genomic hybridization studyBuza 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. Human Pathology 2014, 45: 1885-1892. PMID: 25033729, DOI: 10.1016/j.humpath.2014.05.010.
• Severe nondominant hereditary spherocytosis due to uniparental isodisomy at the SPTA1 locusBogardus 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, 99: e168-e170. PMID: 24895341, PMCID: PMC4562552, DOI: 10.3324/haematol.2014.110312.
• An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY ChallengeBrownstein CA, Beggs AH, Homer N, Merriman B, Yu TW, Flannery KC, DeChene ET, Towne MC, Savage SK, Price EN, Holm IA, Luquette LJ, Lyon E, Majzoub J, Neupert P, McCallie Jr D, Szolovits P, Willard HF, Mendelsohn NJ, Temme R, Finkel RS, Yum SW, Medne L, Sunyaev SR, Adzhubey I, Cassa CA, de Bakker P, Duzkale H, Dworzyński P, Fairbrother W, Francioli L, Funke BH, Giovanni MA, Handsaker RE, Lage K, Lebo MS, Lek M, Leshchiner I, MacArthur DG, McLaughlin HM, Murray MF, Pers TH, Polak PP, Raychaudhuri S, Rehm HL, Soemedi R, Stitziel NO, Vestecka S, Supper J, Gugenmus C, Klocke B, Hahn A, Schubach M, Menzel M, Biskup S, Freisinger P, Deng M, Braun M, Perner S, Smith R, Andorf JL, Huang J, Ryckman K, Sheffield VC, Stone EM, Bair T, Black-Ziegelbein EA, Braun TA, Darbro B, DeLuca AP, Kolbe DL, Scheetz TE, Shearer AE, Sompallae R, Wang K, Bassuk AG, Edens E, Mathews K, Moore SA, Shchelochkov OA, Trapane P, Bossler A, Campbell CA, Heusel JW, Kwitek A, Maga T, Panzer K, Wassink T, Van Daele D, Azaiez H, Booth K, Meyer N, Segal MM, Williams MS, Tromp G, White P, Corsmeier D, Fitzgerald-Butt S, Herman G, Lamb-Thrush D, McBride KL, Newsom D, Pierson CR, Rakowsky AT, Maver A, Lovrečić L, Palandačić A, Peterlin B, Torkamani A, Wedell A, Huss M, Alexeyenko A, Lindvall JM, Magnusson M, Nilsson D, Stranneheim H, Taylan F, Gilissen C, Hoischen A, van Bon B, Yntema H, Nelen M, Zhang W, Sager J, Zhang L, Blair K, Kural D, Cariaso M, Lennon GG, Javed A, Agrawal S, Ng PC, Sandhu KS, Krishna S, Veeramachaneni V, Isakov O, Halperin E, Friedman E, Shomron N, Glusman G, Roach JC, Caballero J, Cox HC, Mauldin D, Ament SA, Rowen L, Richards DR, Lucas F, Gonzalez-Garay ML, Caskey CT, Bai Y, Huang Y, Fang F, Zhang Y, Wang Z, Barrera J, Garcia-Lobo JM, González-Lamuño D, Llorca J, Rodriguez MC, Varela I, Reese MG, De La Vega FM, Kiruluta E, Cargill M, Hart RK, Sorenson JM, Lyon GJ, Stevenson DA, Bray BE, Moore BM, Eilbeck K, Yandell M, Zhao H, Hou L, Chen X, Yan X, Chen M, Li C, Yang C, Gunel M, Li P, Kong Y, Alexander AC, Albertyn ZI, Boycott KM, Bulman DE, Gordon P, Innes AM, Knoppers BM, Majewski J, Marshall CR, Parboosingh JS, Sawyer SL, Samuels ME, Schwartzentruber J, Kohane IS, Margulies DM. An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. Genome Biology 2014, 15: r53. PMID: 24667040, PMCID: PMC4073084, DOI: 10.1186/gb-2014-15-3-r53.
• Cytogenomic mapping and bioinformatic mining reveal interacting brain expressed genes for intellectual disabilityXu 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. Molecular Cytogenetics 2014, 7: 4. PMID: 24410907, PMCID: PMC3905969, DOI: 10.1186/1755-8166-7-4.
• Absence of aneuploidy and gastrointestinal tumours in a man with a chromosomal 2q13 deletion and BUB1 monoallelic deficiencyHoang 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 Reports 2013, 2013: bcr2013008684. PMID: 23440991, PMCID: PMC3604111, DOI: 10.1136/bcr-2013-008684.
• Technology-Driven and Evidence-Based Genomic Analysis for Integrated Pediatric and Prenatal Genetics EvaluationWei Y, Xu F, Li P. Technology-Driven and Evidence-Based Genomic Analysis for Integrated Pediatric and Prenatal Genetics Evaluation. Journal Of Genetics And Genomics 2012, 40: 1-14. PMID: 23357340, DOI: 10.1016/j.jgg.2012.12.004.
• Prenatal Diagnosis and Postnatal Followup of Partial Trisomy 13q and Partial Monosomy 10p: A Case Report and Review of the LiteratureWei 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 Reports In Genetics 2012, 2012: 821347. PMID: 23133763, PMCID: PMC3485761, DOI: 10.1155/2012/821347.
• Integrated analysis of tumor samples sheds light on tumor heterogeneity.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. The Yale Journal Of Biology And Medicine 2012, 85: 347-61. PMID: 23012583, PMCID: PMC3447199.
• A de novo 3.54 Mb deletion of 17q22‐q23.1 associated with hydrocephalus: A case report and review of literatureKhattab 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. American Journal Of Medical Genetics Part A 2011, 155: 3082-3086. PMID: 22052796, DOI: 10.1002/ajmg.a.34307.
• Reduced Level of Ribonucleotide Reductase R2 Subunits Increases Dependence on Homologous Recombination Repair of Cisplatin-Induced DNA DamageLin 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. Molecular Pharmacology 2011, 80: 1000-1012. PMID: 21875941, PMCID: PMC3228527, DOI: 10.1124/mol.111.074708.
• A Highly Sensitive, High-Throughput Assay for the Detection of Turner SyndromeRivkees S, Hager K, Hosono S, Wise A, Li P, Rinder H, Gruen J. A Highly Sensitive, High-Throughput Assay for the Detection of Turner Syndrome. Obstetrical & Gynecological Survey 2011, 66: 421-422. DOI: 10.1097/ogx.0b013e3182338c32.
• Genomic characterization of prenatally detected chromosomal structural abnormalities using oligonucleotide array comparative genomic hybridizationLi 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. American Journal Of Medical Genetics Part A 2011, 155: 1605-1615. PMID: 21671377, PMCID: PMC3745591, DOI: 10.1002/ajmg.a.34043.
• Detecting copy number status and uncovering subclonal markers in heterogeneous tumor biopsiesParisi 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, 12: 230. PMID: 21569352, PMCID: PMC3114747, DOI: 10.1186/1471-2164-12-230.
• Bi‐allelic deletions within 13q14 and transient trisomy 21 with absence of GATA1s in pediatric acute megakaryoblastic leukemiaMassaro 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. Pediatric Blood & Cancer 2011, 57: 516-519. PMID: 21538823, PMCID: PMC4517576, DOI: 10.1002/pbc.23156.
• Evidence-based genomic diagnosis characterized chromosomal and cryptic imbalances in 30 elderly patients with myelodysplastic syndrome and acute myeloid leukemiaBajaj 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. Molecular Cytogenetics 2011, 4: 3. PMID: 21251322, PMCID: PMC3031273, DOI: 10.1186/1755-8166-4-3.
• A highly sensitive, high-throughput assay for the detection of Turner syndrome.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. The Journal Of Clinical Endocrinology & Metabolism 2010, 96: 699-705. PMID: 21177792, PMCID: PMC3047225, DOI: 10.1210/jc.2010-1554.
• The Distribution and Most Recent Common Ancestor of the 17q21 Inversion in HumansDonnelly 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. American Journal Of Human Genetics 2010, 86: 161-171. PMID: 20116045, PMCID: PMC2820164, DOI: 10.1016/j.ajhg.2010.01.007.
• Genome-Wide Oligonucleotide Array Comparative Genomic Hybridization for Etiological Diagnosis of Mental Retardation A Multicenter Experience of 1499 Clinical CasesXiang B, Zhu H, Shen Y, Miller DT, Lu K, Hu X, Andersson HC, Narumanchi TM, Wang Y, Martinez JE, Wu BL, Li P, Li MM, Chen TJ, Fan YS. Genome-Wide Oligonucleotide Array Comparative Genomic Hybridization for Etiological Diagnosis of Mental Retardation A Multicenter Experience of 1499 Clinical Cases. Journal Of Molecular Diagnostics 2010, 12: 204-212. PMID: 20093387, PMCID: PMC2871727, DOI: 10.2353/jmoldx.2010.090115.
• Clinical and genomic characterization of distal duplications and deletions of chromosome 4q: Study of two cases and review of the literatureRossi 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. American Journal Of Medical Genetics Part A 2009, 149A: 2788-2794. PMID: 19921640, PMCID: PMC2788106, DOI: 10.1002/ajmg.a.33088.
• Congenital fibrosarcoma with a novel complex 3-way translocation t(12;15;19) and unusual histologic featuresMariño-Enríquez A, Li P, Samuelson J, Rossi MR, Reyes-Múgica M. Congenital fibrosarcoma with a novel complex 3-way translocation t(12;15;19) and unusual histologic features. Human Pathology 2008, 39: 1844-1848. PMID: 18657299, DOI: 10.1016/j.humpath.2008.04.013.
• Analytical and clinical validity of whole‐genome oligonucleotide array comparative genomic hybridization for pediatric patients with mental retardation and developmental delayXiang 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. American Journal Of Medical Genetics Part A 2008, 146A: 1942-1954. PMID: 18627053, DOI: 10.1002/ajmg.a.32411.
• Double-minute MYC amplification and deletion of MTAP, CDKN2A, CDKN2B, and ELAVL2 in an acute myeloid leukemia characterized by oligonucleotide-array comparative genomic hybridizationKamath 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 Genetics 2008, 183: 117-120. PMID: 18503831, DOI: 10.1016/j.cancergencyto.2008.02.011.
• A translocation causing increased α-Klotho level results in hypophosphatemic rickets and hyperparathyroidismBrownstein 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 α-Klotho level results in hypophosphatemic rickets and hyperparathyroidism. Proceedings Of The National Academy Of Sciences Of The United States Of America 2008, 105: 3455-3460. PMID: 18308935, PMCID: PMC2265125, DOI: 10.1073/pnas.0712361105.
• Pulmonary atresia with intact ventricular septum (PA‐IVS) in monozygotic twinsDe Stefano D, Li P, Xiang B, Hui P, Zambrano E. Pulmonary atresia with intact ventricular septum (PA‐IVS) in monozygotic twins. American Journal Of Medical Genetics Part A 2008, 146A: 525-528. PMID: 18203206, DOI: 10.1002/ajmg.a.32160.
• Karyotype–phenotype insights from 11q14.1‐q23.2 interstitial deletions: FZD4 haploinsufficiency and exudative vitreoretinopathy in a patient with a complex chromosome rearrangementLi 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. American Journal Of Medical Genetics Part A 2006, 140A: 2721-2729. PMID: 17103440, DOI: 10.1002/ajmg.a.31498.
• CytoAccess, a relational laboratory information management system for a clinical cytogenetics laboratory.Xiang B, Li P, Hemingway SS, Qumsiyeh M. CytoAccess, a relational laboratory information management system for a clinical cytogenetics laboratory. Journal Of The Association Of Genetic Technologists 2006, 32: 168-70. PMID: 17130662.
• FOXC1 gene deletion is associated with eye anomalies in ring chromosome 6Zhang 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. American Journal Of Medical Genetics Part A 2003, 124A: 280-287. PMID: 14708101, DOI: 10.1002/ajmg.a.20413.
• Diversity of mutations and distribution of single nucleotide polymorphic alleles in the human α-l-iduronidase (IDUA) geneLi P, Wood T, Thompson JN. Diversity of mutations and distribution of single nucleotide polymorphic alleles in the human α-l-iduronidase (IDUA) gene. Genetics In Medicine 2002, 4: 420-426. PMID: 12509712, DOI: 10.1097/00125817-200211000-00004.
• 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 2001, 10: 291-9. PMID: 11159948.
• Analysis of common mutations and associated haplotypes in Chinese patients with glucose‐6‐phosphate dehydrogenase deficiencyLi P, Thompson J, Wang X, Song L. Analysis of common mutations and associated haplotypes in Chinese patients with glucose‐6‐phosphate dehydrogenase deficiency. IUBMB Life 1998, 46: 1135-1143. PMID: 9891846, DOI: 10.1080/15216549800204692.
• Comparison of SSCP analysis and CFLP analysis for mutation detection in the human iduronate 2‐sulfatase geneMaddox L, Li P, Bennett A, Descartes M, Thompson J. Comparison of SSCP analysis and CFLP analysis for mutation detection in the human iduronate 2‐sulfatase gene. IUBMB Life 1997, 43: 1163-1171. PMID: 9442913, DOI: 10.1080/15216549700205001.
• Biochemical and molecular analysis in a patient with the severe form of Hunter syndrome after bone marrow transplantationLi P, Thompson J, Hug G, Huffman P, Chuck G. Biochemical and molecular analysis in a patient with the severe form of Hunter syndrome after bone marrow transplantation. American Journal Of Medical Genetics 1996, 64: 531-535. PMID: 8870917, DOI: 10.1002/(sici)1096-8628(19960906)64:4<531::aid-ajmg1>3.0.co;2-s.
• Mutations of the iduronate‐2‐sulfatase gene on a T146T background in three patients with Hunter syndromeLi P, Huffman P, Thompson J. Mutations of the iduronate‐2‐sulfatase gene on a T146T background in three patients with Hunter syndrome. Human Mutation 1995, 5: 272-274. PMID: 7599640, DOI: 10.1002/humu.1380050314.