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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.

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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.

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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).

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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.

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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.

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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.