Publications

2018

  • Kusmirek, W., Szmurlo, A., Wiewiorka, M., Nowak, R., & Gambin, T. (2018). Clustering-based optimization method of reference set selection for improved CNV callers performance. BioRxiv. https://doi.org/10.1101/478313Details
  • Wiewiorka, M., Szmurlo, A., Kusmirek, W., & Gambin, T. (2018). SeQuiLa-cov: A fast and scalable library for depth of coverage calculations. BioRxiv. https://doi.org/10.1101/494468Details
  • Wiszniewski, W., Gawlinski, P., Gambin, T., Bekiesinska-Figatowska, M., Obersztyn, E., Antczak-Marach, D., … Lupski, J. R. (2018). Comprehensive genomic analysis of patients with disorders of cerebral cortical development. European Journal of Human Genetics : EJHG, 26(8), 1121—1131. https://doi.org/10.1038/s41431-018-0137-zDetails
  • Szmurło, A., Wiewiórka, M., Gambin, T., Leśniewska, A., Stępień, K., Borowiak, M., & Okoniewski, M. (2018). SeQuiLa: an elastic, fast and scalable SQL-oriented solution for processing and querying genomic intervals. https://doi.org/10.1093/bioinformatics/bty940Details
  • Agnieszka Szmurło, T. G., Marek Wiewiórka. (2018). iGAP: Interactive Genomic Analysis Platform. https://doi.org/10.1117/12.2502040Details

2017

  • Hryhorzhevska, A., Wiewiórka, M., Okoniewski, M., & Gambin, T. (2017). Scalable Framework for the Analysis of Population Structure Using the Next Generation Sequencing Data. In International Symposium on Methodologies for Intelligent Systems (pp. 471–480). Springer.Details
  • Wiewiórka, M. S., Wysakowicz, D. P., Okoniewski, M. J., & Gambin, T. (2017). Benchmarking distributed data warehouse solutions for storing genomic variant information. Database, 2017.Details
  • Stray-Pedersen, A., Sorte, H. S., Samarakoon, P., Gambin, T., Chinn, I. K., Akdemir, Z. H. C., … others. (2017). Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders. Journal of Allergy and Clinical Immunology, 139(1), 232–245.Details
  • Gambin, T., Akdemir, Z. C., Yuan, B., Gu, S., Chiang, T., Carvalho, C., … others. (2017). Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort. Nucleic Acids Research, 45(4), 1633–1648.Details
  • Küry, S., Besnard, T., Ebstein, F., Khan, T. N., Gambin, T., Douglas, J., … others. (2017). De novo disruption of the proteasome regulatory subunit PSMD12 causes a syndromic neurodevelopmental disorder. The American Journal of Human Genetics, 100(2), 352–363.Details
  • Liu, P., Yuan, B., Carvalho, C. M. B., Wuster, A., Walter, K., Zhang, L., … others. (2017). An Organismal CNV Mutator Phenotype Restricted to Early Human Development. Cell, 168(5), 830–842.Details
  • Zhang, J., Gambin, T., Yuan, B., Szafranski, P., Rosenfeld, J. A., Al Balwi, M., … others. (2017). Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features. Human Genetics, 136(4), 377–386.Details
  • Eldomery, M. K., Coban-Akdemir, Z., Harel, T., Rosenfeld, J. A., Gambin, T., Stray-Pedersen, A., … others. (2017). Lessons learned from additional research analyses of unsolved clinical exome cases. Genome Medicine, 9(1), 26.Details
  • Lechowicz, U., Gambin, T., Pollak, A., Podgorska, A., Stawinski, P., Franke, A., … others. (2017). Iterative Sequencing and Variant Screening (ISVS) as a novel pathogenic mutations search strategy-application for TMPRSS3 mutations screen. Scientific Reports, 7.Details
  • Rygiel, A. M., Kujko, A., Oracz, G., Gambin, T., Kosinska, J., Wejnarska, K., … Bal, J. (2017). Whole exome sequencing reveals complex genotypes in hereditary and idiopathic chronic pancreatitis. Pancreatology, 17(3), S9.Details
  • Zhang, J., Gambin, T., Yuan, B., Szafranski, P., Rosenfeld, J. A., Balwi, M. A., … others. (2017). Erratum to: Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features. Human Genetics, 136(8), 1009.Details

2016

  • Szczerba, M., Wiewiórka, M. S., Okoniewski, M. J., & Rybiński, H. (2016). Scalable Cloud-Based Data Analysis Software Systems for Big Data from Next Generation Sequencing. In Big Data Analysis: New Algorithms for a New Society (pp. 263–283). Springer.Details
  • Boone, P. M., Yuan, B., Gu, S., Ma, Z., Gambin, T., Gonzaga-Jauregui, C., … others. (2016). Hutterite-type cataract maps to chromosome 6p21. 32-p21. 31, cosegregates with a homozygous mutation in LEMD2, and is associated with sudden cardiac death. Molecular Genetics & Genomic Medicine, 4(1), 77–94.Details
  • Farlow, J. L., Robak, L. A., Hetrick, K., Bowling, K., Boerwinkle, E., Coban-Akdemir, Z. H., … others. (2016). Whole-exome sequencing in familial Parkinson disease. JAMA Neurology, 73(1), 68–75.Details
  • Posey, J. E., Rosenfeld, J. A., James, R. A., Bainbridge, M., Niu, Z., Wang, X., … others. (2016). Molecular diagnostic experience of whole-exome sequencing in adult patients. Genetics in Medicine: Official Journal of the American College of Medical Genetics, 18(7), 678.Details
  • Campbell, I. M., Gambin, T., Jhangiani, S. N., Grove, M. L., Veeraraghavan, N., Muzny, D. M., … others. (2016). Multiallelic positions in the human genome: challenges for genetic analyses. Human Mutation, 37(3), 231–234.Details
  • Bayram, Y., Karaca, E., Akdemir, Z. C., Yilmaz, E. O., Tayfun, G. A., Aydin, H., … others. (2016). Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin. The Journal of Clinical Investigation, 126(2), 762.Details
  • Lalani, S. R., Liu, P., Rosenfeld, J. A., Watkin, L. B., Chiang, T., Leduc, M. S., … others. (2016). Recurrent muscle weakness with rhabdomyolysis, metabolic crises, and cardiac arrhythmia due to bi-allelic TANGO2 mutations. The American Journal of Human Genetics, 98(2), 347–357.Details
  • Karolak, J. A., Gambin, T., Rydzanicz, M., Szaflik, J. P., Polakowski, P., Frajdenberg, A., … Gajecka, M. (2016). Evidence against ZNF469 being causative for keratoconus in Polish patients. Acta Ophthalmologica, 94(3), 289–294.Details
  • Gawlinski, P., Posmyk, R., Gambin, T., Sielicka, D., Chorazy, M., Nowakowska, B., … others. (2016). PEHO syndrome may represent phenotypic expansion at the severe end of the early-onset encephalopathies. Pediatric Neurology, 60, 83–87.Details
  • Szafranski, P., Gambin, T., Dharmadhikari, A. V., Akdemir, K. C., Jhangiani, S. N., Schuette, J., … others. (2016). Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins. Human Genetics, 135(5), 569–586.Details
  • Patel, A., Rosenfeld-Mokry, J., Gambin, T., Liu, P., Bi, W., Breman, A., … others. (2016). Exon-Targeted Array CGH for Identification of Clinically Relevant Small-Sized, Intragenic CNVs. Cancer Genetics, 209(5), 239–240.Details
  • Srivastava, A. K., Wang, Y., Huang, R., Skinner, C., Thompson, T., Pollard, L., … others. (2016). Human genome meeting 2016. Human Genomics, 10(1), 12.Details
  • Macias, A., Gambin, T., Szafranski, P., Jhangiani, S. N., Kolasa, A., Obersztyn, E., … Kaminska, A. (2016). CAV3 mutation in a patient with transient hyperCKemia and myalgia. Neurologia i Neurochirurgia Polska, 50(6), 468–473.Details
  • Charng, W.-L., Karaca, E., Akdemir, Z. C., Gambin, T., Atik, M. M., Gu, S., … others. (2016). Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate. BMC Medical Genomics, 9(1), 42.Details
  • Sorte, H. S., Osnes, L. T., Fevang, B., Aukrust, P., Erichsen, H. C., Backe, P. H., … others. (2016). A potential founder variant in CARMIL2/RLTPR in three Norwegian families with warts, molluscum contagiosum, and T-cell dysfunction. Molecular Genetics & Genomic Medicine, 4(6), 604–616.Details
  • Karolak, J. A., Gambin, T., Pitarque, J. A., Molinari, A., Jhangiani, S., Stankiewicz, P., … Gajecka, M. (2016). Variants in SKP1, PROB1, and IL17B genes at keratoconus 5q31. 1–q35. 3 susceptibility locus identified by whole-exome sequencing. European Journal of Human Genetics, 25(1), 73–78.Details
  • Eldomery, M. K., Akdemir, Z. C., Vögtle, F.-N., Charng, W.-L., Mulica, P., Rosenfeld, J. A., … others. (2016). MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death. Genome Medicine, 8(1), 106.Details
  • Jhangiani, S. N., Akdemir, Z. C., Bainbridge, M. N., Charng, W., Wiszniewski, W., Gambin, T., … others. (2016). Baylor-Johns Hopkins Center for Mendelian genomics: a four year review. In HUMAN GENOMICS (Vol. 10). BIOMED CENTRAL LTD 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND.Details
  • Prescott, T. E., Kulseth, M. A., Heimdal, K. R., Stadheim, B., Hopp, E., Gambin, T., … others. (2016). Two male sibs with severe micrognathia and a missense variant in MED12. European Journal of Medical Genetics, 59(8), 367–372.Details

2015

  • Wiewiorka, M. S., Szabelska, A., & Okoniewski, M. J. (2015). Analysis of AmpliSeq RNA-Sequencing Enrichment Panels. In International Conference on Pattern Recognition and Machine Intelligence (pp. 495–500). Springer.Details
  • Bozdogan, S. T., Yuregir, O. O., Buyukkurt, N., Aslan, H., Ozdemir, Z. C., & Gambin, T. (2015). Alpha-thalassemia mutations in Adana Province, southern Turkey: genotype-phenotype correlation. Indian Journal of Hematology and Blood Transfusion, 31(2), 223–228.Details
  • Riveiro-Álvarez, R., Xie, Y. A., López-Martı́nez Miguel-Ángel, Gambin, T., Pérez-Carro, R., Ávila-Fernández, A., … others. (2015). New mutations in the RAB28 gene in 2 Spanish families with cone-rod dystrophy. JAMA Ophthalmology, 133(2), 133–139.Details
  • Yuan, B., Pehlivan, D., Karaca, E., Patel, N., Charng, W.-L., Gambin, T., … others. (2015). Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes. The Journal of Clinical Investigation, 125(2), 636.Details
  • Startek, M., Szafranski, P., Gambin, T., Campbell, I. M., Hixson, P., Shaw, C. A., … Gambin, A. (2015). Genome-wide analyses of LINE–LINE-mediated nonallelic homologous recombination. Nucleic Acids Research, 43(4), 2188–2198.Details
  • Collison, F. T., Xie, Y., Gambin, T., Jhangiani, S., Muzny, D., Gibbs, R., … Allikmets, R. (2015). Whole exome sequencing identifies an adult-onset case of methylmalonic aciduria and homocystinuria type C (cblC) with non-syndromic bull’s eye maculopathy. Ophthalmic Genetics, 36(3), 270–275.Details
  • Beck, T. F., Campeau, P. M., Jhangiani, S. N., Gambin, T., Li, A. H., Abo-Zahrah, R., … others. (2015). FBN1 contributing to familial congenital diaphragmatic hernia. American Journal of Medical Genetics Part A, 167(4), 831–836.Details
  • Beck, C. R., Carvalho, C. M. B., Banser, L., Gambin, T., Stubbolo, D., Yuan, B., … others. (2015). Complex genomic rearrangements at the PLP1 locus include triplication and quadruplication. PLoS Genetics, 11(3), e1005050.Details
  • Bayram, Y., Gulsuner, S., Guran, T., Abaci, A., Yesil, G., Gulsuner, H. U., … others. (2015). Homozygous loss-of-function mutations in SOHLH1 in patients with nonsyndromic hypergonadotropic hypogonadism. The Journal of Clinical Endocrinology & Metabolism, 100(5), E808–E814.Details
  • White, J., Mazzeu, J. F., Hoischen, A., Jhangiani, S. N., Gambin, T., Alcino, M. C., … others. (2015). DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome. The American Journal of Human Genetics, 96(4), 612–622.Details
  • Bayram, Y., Aydin, H., Gambin, T., Akdemir, Z. C., Atik, M. M., Karaca, E., … others. (2015). Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral-facial-digital syndrome type VI. American Journal of Medical Genetics Part A, 167(9), 2132–2137.Details
  • Watkin, L. B., Jessen, B., Wiszniewski, W., Vece, T. J., Jan, M., Sha, Y., … others. (2015). COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis. Nature Genetics, 47(6), 654–660.Details
  • Kellermayer, R., Nagy-Szakal, D., Harris, R. A., Tamara, P. N., Lewindon, P., Jhangiani, S. N., … others. (2015). Tu2021 High-Throughput Analyses of Liver Nucleic Acids Failed to Unravel a Common Etiology of Biliary Atresia. Gastroenterology, 148(4), S–962.Details
  • Gambin, T., Jhangiani, S. N., Below, J. E., Campbell, I. M., Wiszniewski, W., Muzny, D. M., … others. (2015). Secondary findings and carrier test frequencies in a large multiethnic sample. Genome Medicine, 7(54).Details
  • Xie, Y., Lee, W., Tsang, S. H., Fishman, G. A., Collison, F. T., Riveiro-Alvarez, R., … Allikmets, R. (2015). Whole-exome sequencing in patients with STGD (ABCA4)-like phenotypes. Investigative Ophthalmology & Visual Science, 56(7), 2863–2863.Details
  • Chong, J. X., Buckingham, K. J., Jhangiani, S. N., Boehm, C., Sobreira, N., Smith, J. D., … others. (2015). The genetic basis of Mendelian phenotypes: discoveries, challenges, and opportunities. The American Journal of Human Genetics, 97(2), 199–215.Details
  • Karaca, E., Yuregir, O. O., Bozdogan, S. T., Aslan, H., Pehlivan, D., Jhangiani, S. N., … others. (2015). Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel–Feil syndrome. American Journal of Medical Genetics Part A, 167(11), 2795–2799.Details
  • Gonzaga-Jauregui, C., Harel, T., Gambin, T., Kousi, M., Griffin, L. B., Francescatto, L., … others. (2015). Exome sequence analysis suggests that genetic burden contributes to phenotypic variability and complex neuropathy. Cell Reports, 12(7), 1169–1183.Details
  • Gambin, M., Gambin, T., & Sharp, C. (2015). Social cognition, psychopathological symptoms, and family functioning in a sample of inpatient adolescents using variable-centered and person-centered approaches. Journal of Adolescence, 45, 31–43.Details
  • Karaca, E., Harel, T., Pehlivan, D., Jhangiani, S. N., Gambin, T., Akdemir, Z. C., … others. (2015). Genes that affect brain structure and function identified by rare variant analyses of Mendelian neurologic disease. Neuron, 88(3), 499–513.Details
  • Yuan, B., Liu, P., Gupta, A., Beck, C. R., Tejomurtula, A., Campbell, I. M., … others. (2015). Comparative genomic analyses of the human NPHP1 locus reveal complex genomic architecture and its regional evolution in primates. PLoS Genetics, 11(12), e1005686.Details

2014

  • Wiewiórka, M. S., Messina, A., Pacholewska, A., Maffioletti, S., Gawrysiak, P., & Okoniewski, M. J. (2014). SparkSeq: fast, scalable and cloud-ready tool for the interactive genomic data analysis with nucleotide precision. Bioinformatics, 30(18), 2652–2653.Details
  • Wiszniewska, J., Bi, W., Shaw, C., Stankiewicz, P., Kang, S.-H. L., Pursley, A. N., … others. (2014). Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing. European Journal of Human Genetics, 22(1), 79.Details
  • Bartnik, M., Nowakowska, B., Derwińska, K., Wiśniowiecka-Kowalnik, B., Kędzior, M., Bernaciak, J., … others. (2014). Application of array comparative genomic hybridization in 256 patients with developmental delay or intellectual disability. Journal of Applied Genetics, 55(1), 125–144.Details
  • Pham, J., Shaw, C., Pursley, A., Hixson, P., Sampath, S., Roney, E., … others. (2014). Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10 362 consecutive cases. European Journal of Human Genetics, 22(8), 969.Details
  • Pehlivan, D., Karaca, E., Aydin, H., Beck, C. R., Gambin, T., Muzny, D. M., … others. (2014). Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia. European Journal of Human Genetics, 22(9), 1145.Details
  • Wangler, M. F., Gonzaga-Jauregui, C., Gambin, T., Penney, S., Moss, T., Chopra, A., … others. (2014). Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome. PLoS Genetics, 10(3), e1004258.Details
  • Podsiadły-Marczykowska, T., Gambin, T., & Zawiślak, R. (2014). Rule-based algorithm transforming OWL ontology into relational database. In International Conference: Beyond Databases, Architectures and Structures (pp. 148–159). Springer, Cham.Details
  • Karaca, E., Weitzer, S., Pehlivan, D., Shiraishi, H., Gogakos, T., Hanada, T., … others. (2014). Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function. Cell, 157(3), 636–650.Details
  • Stray-Pedersen, A., Backe, P. H., Sorte, H. S., Mørkrid, L., Chokshi, N. Y., Erichsen, H. C., … others. (2014). PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia. The American Journal of Human Genetics, 95(1), 96–107.Details
  • Xie, Y., Lee, W., Cai, C., Gambin, T., Nõupuu, K., Sujirakul, T., … others. (2014). New syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11. Human Molecular Genetics, 23(21), 5774–5780.Details
  • Chokshi, N., Stray-Pedersen, A., Sorte, H., Backe, P. H., Morkid, L., Erichsen, H. C., … others. (2014). A Novel Congenital Disorder of Glycosylation, AGM1-CDG, with TB-NK plus SCID, Neutropenia and Skeletal Dysplasia, Caused by Mutations in the Gene Encoding Phosphoacetylglucosamine Mutase 1. In JOURNAL OF CLINICAL IMMUNOLOGY (Vol. 34, pp. 366–367). SPRINGER/PLENUM PUBLISHERS 233 SPRING ST, NEW YORK, NY 10013 USA.Details
  • Bayram, Y., Pehlivan, D., Karaca, E., Gambin, T., Jhangiani, S. N., Erdin, S., … others. (2014). Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome. American Journal of Medical Genetics Part A, 164(9), 2328–2334.Details
  • Stray-Pedersen, A., Jouanguy, E., Crequer, A., Bertuch, A. A., Brown, B. S., Jhangiani, S. N., … others. (2014). Compound heterozygous CORO1A mutations in siblings with a mucocutaneous-immunodeficiency syndrome of epidermodysplasia verruciformis-HPV, molluscum contagiosum and granulomatous tuberculoid leprosy. Journal of Clinical Immunology, 34(7), 871–890.Details
  • Campbell, I. M., Gambin, T., Dittwald, P., Beck, C. R., Shuvarikov, A., Hixson, P., … others. (2014). Human endogenous retroviral elements promote genome instability via non-allelic homologous recombination. BMC Biology, 12(1), 74.Details
  • Yamamoto, S., Jaiswal, M., Charng, W.-L., Gambin, T., Karaca, E., Mirzaa, G., … others. (2014). A Drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases. Cell, 159(1), 200–214.Details
  • Karaca, E., Buyukkaya, R., Pehlivan, D., Charng, W.-L., Yaykasli, K. O., Bayram, Y., … others. (2014). Whole-exome sequencing identifies homozygous GPR161 mutation in a family with pituitary stalk interruption syndrome. The Journal of Clinical Endocrinology & Metabolism, 100(1), E140–E147.Details
  • Dharmadhikari, A. V., Gambin, T., Szafranski, P., Cao, W., Probst, F. J., Jin, W., … others. (2014). Molecular and clinical analyses of 16q24. 1 duplications involving FOXF1 identify an evolutionarily unstable large minisatellite. BMC Medical Genetics, 15(1), 128.Details
  • Stray-Pedersen, A., Sorte, H. S., Samarakoon, P. S., Forbes, L., Gambin, T., Rodningen, O. K., … others. (2014). High Diagnostic Yield by Exome Sequencing of 275 Primary Immunodeficiency Patients. In JOURNAL OF CLINICAL IMMUNOLOGY (Vol. 34, pp. S154–S155). SPRINGER/PLENUM PUBLISHERS 233 SPRING ST, NEW YORK, NY 10013 USA.Details
  • Stray-Pedersen, A., Sorte, H. S., Backe, P. H., Morkrid, L., Chokshi, N. Y., Erichsen, H. C., … others. (2014). PGM3 Mutations Cause a Congenital Disorder of Glycosylation with Severe Combined Immunodeficiency, Congenital Neutropenia and Skeletal Dysplasia. In JOURNAL OF CLINICAL IMMUNOLOGY (Vol. 34, pp. S160–S161). SPRINGER/PLENUM PUBLISHERS 233 SPRING ST, NEW YORK, NY 10013 USA.Details
  • Allikmets, R., Xie, Y., Lee, W., Amaro-Quireza, L., Gambin, T., Jhangiani, S. N., … Tsang, S. H. (2014). RDH11, a new gene for autosomal recessive retinitis pigmentosa with syndromic features. Investigative Ophthalmology & Visual Science, 55(13), 3266–3266.Details
  • Xie, Y., Tsang, S. H., Ayuso, C., Lee, W., Jhangiani, S. N., Gambin, T., … Allikmets, R. (2014). CRX mutations in patients with phenotypes resembling Stargardt disease. Investigative Ophthalmology & Visual Science, 55(13), 3256–3256.Details
  • Wangler, M. F., Gonzaga-Jauregui, C., Gambin, T., Penney, S., Moss, T., & others. (2014). Heterozygous De Novo and Inherited Mutations in the Smooth Muscle Actin.Details

2013

  • Dittwald, P., Gambin, T., Gonzaga-Jauregui, C., Carvalho, C., Lupski, J. R., Stankiewicz, P., & Gambin, A. (2013). Inverted Low-Copy Repeats and Genome Instability—A Genome-Wide Analysis. Human Mutation, 34(1), 210–220.Details
  • Wiśniowiecka-Kowalnik, B., Kastory-Bronowska, M., Bartnik, M., Derwińska, K., Dymczak-Domini, W., Szumbarska, D., … others. (2013). Application of custom-designed oligonucleotide array CGH in 145 patients with autistic spectrum disorders. European Journal of Human Genetics, 21(6), 620.Details
  • Gambin, T., Startek, M., Walczak, K., Paszek, J., Grzebelus, D., & Gambin, A. (2013). TIRfinder: A Web Tool for Mining Class II Transposons Carrying Terminal Inverted Repeats. Evolutionary Bioinformatics, 2013.Details
  • Harris, R. A., Shaw, C., Li, J., Cheung, S. W., Coarfa, C., Jeong, M., … others. (2013). Confounding by repetitive elements and CpG islands does not explain the association between hypomethylation and genomic instability. PLoS Genetics, 9(2), e1003333.Details
  • Gambin, T., Stankiewicz, P., Sykulski, M., & Gambin, A. (2013). Functional performance of aCGH design for clinical cytogenetics. Computers in Biology and Medicine, 43(6), 775–785.Details
  • Dittwald, P., Gambin, T., Szafranski, P., Li, J., Amato, S., Divon, M. Y., … others. (2013). NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits. Genome Research, 23(9), 1395–1409.Details
  • Sykulski, M., Gambin, T., Bartnik, M., Derwińska, K., Wiśniowiecka-Kowalnik, B., Stankiewicz, P., & Gambin, A. (2013). Multiple samples aCGH analysis for rare CNVs detection. Journal of Clinical Bioinformatics, 3(1), 12.Details

2012

  • Bi, W., Breman, A., Shaw, C. A., Stankiewicz, P., Gambin, T., Lu, X., … others. (2012). Detection of≥ 1 Mb microdeletions and microduplications in a single cell using custom oligonucleotide arrays. Prenatal Diagnosis, 32(1), 10–20.Details
  • Li, J., Harris, R. A., Cheung, S. W., Coarfa, C., Jeong, M., Goodell, M. A., … others. (2012). Genomic hypomethylation in the human germline associates with selective structural mutability in the human genome. PLoS Genetics, 8(5), e1002692.Details
  • Bartnik, M., Szczepanik, E., Derwińska, K., Wiśniowiecka-Kowalnik, B., Gambin, T., Sykulski, M., … others. (2012). Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 159(7), 760–771.Details
  • Derwińska, K., Bartnik, M., Wiśniowiecka-Kowalnik, B., Jagła, M., Rudziński, A., Pietrzyk, J. J., … others. (2012). ASSESSMENT OF THE ROLE OF COPYͳNUMBER VARIANTS IN 150 PATIENTS WITH CONGENITAL HEART DEFECTS. Medycyna Wieku Rozwojowego, 16(3), 175ͳ182.Details

2011

  • Sykulski, M., Gambin, T., Bartnik, M., Derwinska, K., Wisniowiecka-Kowalnik, B., Stankiewicz, P., & Gambin, A. (2011). Efficient multiple samples aCGH analysis for rare CNVs detection. In Bioinformatics and Biomedicine (BIBM), 2011 IEEE International Conference on (pp. 406–409). IEEE.Details
  • GAMBIN, T. O. M. A. S. Z., STANKIEWICZ, P. A. W. E. Ł., & GAMBIN, A. N. N. A. (2011). A stable density approach to probe selection for a custom aCGH design. Biotechnologia, Journal of Biotechnology, Computational Biology and Bionanotechnology, 92(3), 283–295.Details
  • Celestino-Soper, P. B. S., Shaw, C. A., Sanders, S. J., Li, J., Murtha, M. T., Ercan-Sencicek, A. G., … others. (2011). Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE. Human Molecular Genetics, 20(22), 4360–4370.Details

2010

  • Boone, P. M., Bacino, C. A., Shaw, C. A., Eng, P. A., Hixson, P. M., Pursley, A. N., … others. (2010). Detection of clinically relevant exonic copy-number changes by array CGH. Human Mutation, 31(12), 1326–1342.Details
  • Gambin, T., Sykulski, M., & Gambin, A. (2010). Segmentation robustness measure and its application to aCGH design optimization. PTBI 2010 - Book of Abstracts, 27.Details