Wiewiórka, M., Szmurło, A., Kuśmirek, W., & Gambin, T. (2019). SeQuiLa-cov: A fast and scalable library for depth of coverage calculations. GigaScience, 8(8).

Kusmirek, W., Szmurlo, A., Wiewiorka, M., Nowak, R., & Gambin, T. (2019). Comparison of kNN and k-means optimization methods of reference set selection for improved CNV callers performance. BMC Bioinformatics, 20(1), 266.

Vincent, M., Karolak, J. A., Deutsch, G., Gambin, T., Popek, E., Isidor, B., … Stankiewicz, P. Å. (2019). Clinical, Histopathological, and Molecular Diagnostics in Lethal Lung Developmental Disorders. American Journal of Respiratory and Critical Care Medicine, 0.

Cao, Y., Tokita, M. J., Chen, E. S., Ghosh, R., Chen, T., Feng, Y., … Stankiewicz, P. (2019). A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing. Genome Medicine, 11(1), 48.

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.

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.

Agnieszka Szmurło, T. G., Marek Wiewiórka. (2018). iGAP: Interactive Genomic Analysis Platform.

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.

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.

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.

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.

Wiewiórka, M. S., Wysakowicz, D. P., Okoniewski, M. J., & Gambin, T. (2017). Benchmarking distributed data warehouse solutions for storing genomic variant information. Database, 2017.

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.

Grzebelus, D., Lasota, S., Gambin, T., Kucherov, G., & Gambin, A. (2007). Diversity and structure of PIF/Harbinger-like elements in the genome of Medicago truncatula. BMC Genomics, 8(1), 409.

Grzebelus, D., Gładysz, M., Macko-Podgórni, A., Gambin, T., Golis, B., Rakoczy, R., & Gambin, A. (2009). Population dynamics of miniature inverted-repeat transposable elements (MITEs) in Medicago truncatula. Gene, 448(2), 214–220.

Gambin, T., & Walczak, K. (2009). A new classification method using array Comparative Genome Hybridization data, based on the concept of Limited Jumping Emerging Patterns. BMC Bioinformatics, 10(1), S64.

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.

Gambin, T. (2007). TIRfinder: Narzędzie bioinformatyczne do wykrywania transpozonów klasy II (master thesis) (PhD thesis). Warsaw University of Technology.

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.

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.

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.

Gambin, T., Sykulski, M., & Gambin, A. (2010). Segmentation robustness measure and its application to aCGH design optimization. PTBI 2010 - Book of Abstracts, 27.

Livatino, S., Gambin, T., & Mosiej, L. (2007). Exploring critical aspects in VR-based robot teleguide. In Proceedings of the 13th IASTED International Conference on Robotics and Applications (pp. 270–274). ACTA Press.

Livatino, S., Gambin, T., Mosiej, L., & Koffel, C. (2007). Testing Mobile Robot Tele-Drive with VR Technologies. In IEEE International Conference on Virtual Reality (VRIC), Laval, France.

Livatino, S., Koffel, C., Gambin, T., & Mosiej, L. (2007). Evaluation Guidelines for Virtual Reality Applications. In IEEE International Conference on Virtual Reality (VRIC).

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

Sykulski, M., Gambin, T., Bartnik, M., Derwinska, K., Wisniowiecka-Kowalnik, B., l Stankiewicz, P., & Gambin, A. Supplementary Information-Multiple samples aCGH analysis for rare CNVs detection.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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).

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

Srivastava, A. K., Wang, Y., Huang, R., Skinner, C., Thompson, T., Pollard, L., … others. (2016). Human genome meeting 2016. Human Genomics, 10(1), 12.

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.

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.

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.

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.

Startek, M., Szafranski, P., Gambin, T., Campbell, I. M., Hixson, P., Shaw, C. A., … Gambin, A. Genome-wide analyzes of LINE-LINE-mediated nonallelic homologous recombination-supplementary information.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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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.