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89 results

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Page 1
A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.
Schoch K, Meng L, Szelinger S, Bearden DR, Stray-Pedersen A, Busk OL, Stong N, Liston E, Cohn RD, Scaglia F, Rosenfeld JA, Tarpinian J, Skraban CM, Deardorff MA, Friedman JN, Akdemir ZC, Walley N, Mikati MA, Kranz PG, Jasien J, McConkie-Rosell A, McDonald M, Wechsler SB, Freemark M, Kansagra S, Freedman S, Bali D, Millan F, Bale S, Nelson SF, Lee H, Dorrani N; UCLA Clinical Genomics Center; Undiagnosed Diseases Network; Goldstein DB, Xiao R, Yang Y, Posey JE, Martinez-Agosto JA, Lupski JR, Wangler MF, Shashi V. Schoch K, et al. Among authors: szelinger s. Am J Hum Genet. 2017 Feb 2;100(2):343-351. doi: 10.1016/j.ajhg.2016.12.013. Epub 2017 Jan 26. Am J Hum Genet. 2017. PMID: 28132692 Free PMC article.
FGF12 copy number variant associated with epileptic encephalopathy.
Abraham A, Ramsey K, Belnap N, Szelinger S, Jepsen W, Balak C, Sanchez-Castillo M, Naymik M, Bonfitto A, Rangasamy S, Kruglyak S, Huentelman M, Narayanan V. Abraham A, et al. Among authors: szelinger s. Clin Genet. 2024 Jul;106(1):114-115. doi: 10.1111/cge.14542. Epub 2024 May 8. Clin Genet. 2024. PMID: 38715525
Underreporting of SMARCB1 alteration by clinical sequencing: Integrative patho-genomic analysis captured SMARCB1/INI-1 deficiency in a vulvar yolk sac tumor.
Wei CH, Wang E, Sadimin E, Rodriguez-Rodriguez L, Agulnik M, Yoon J, LoBello J, Szelinger S, Anderson C. Wei CH, et al. Among authors: szelinger s. Gynecol Oncol Rep. 2023 Oct 15;50:101294. doi: 10.1016/j.gore.2023.101294. eCollection 2023 Dec. Gynecol Oncol Rep. 2023. PMID: 37876879 Free PMC article.
Implementation, Evolution, and Laboratory Performance of Methods-Based Proficiency Testing for Next-Generation Sequencing Detection of Germline Sequence Variants.
Tsuchiya KD, Funke B, Hegde M, Santani A, Souers RJ, Szelinger S, Halley J, Zhao Q, Mot N, Roy A, Smith VL, Zhang BM, Voelkerding K, Moyer AM. Tsuchiya KD, et al. Among authors: szelinger s. Arch Pathol Lab Med. 2023 Oct 18. doi: 10.5858/arpa.2023-0090-CP. Online ahead of print. Arch Pathol Lab Med. 2023. PMID: 37852169 Free article.
Genetic and Protein Network Underlying the Convergence of Rett-Syndrome-like (RTT-L) Phenotype in Neurodevelopmental Disorders.
Frankel E, Podder A, Sharifi M, Pillai R, Belnap N, Ramsey K, Dodson J, Venugopal P, Brzezinski M, Llaci L, Gerald B, Mills G, Sanchez-Castillo M, Balak CD, Szelinger S, Jepsen WM, Siniard AL, Richholt R, Naymik M, Schrauwen I, Craig DW, Piras IS, Huentelman MJ, Schork NJ, Narayanan V, Rangasamy S. Frankel E, et al. Among authors: szelinger s. Cells. 2023 May 21;12(10):1437. doi: 10.3390/cells12101437. Cells. 2023. PMID: 37408271 Free PMC article.
Comprehensive Genomic Profiling of High-Risk Pediatric Cancer Patients Has a Measurable Impact on Clinical Care.
Summers RJ, Castellino SM, Porter CC, MacDonald TJ, Basu GD, Szelinger S, Bhasin MK, Cash T, Carter AB, Castellino RC, Fangusaro JR, Mitchell SG, Pauly MG, Pencheva B, Wechsler DS, Graham DK, Goldsmith KC. Summers RJ, et al. Among authors: szelinger s. JCO Precis Oncol. 2022 Apr;6:e2100451. doi: 10.1200/PO.21.00451. JCO Precis Oncol. 2022. PMID: 35544730 Clinical Trial.
Progressive cerebellar atrophy caused by heterozygous TECPR2 mutations.
Ramsey K, Belnap N, Bonfitto A, Jepsen W, Naymik M, Sanchez-Castillo M, Craig DW, Szelinger S, Huentelman MJ, Narayanan V, Rangasamy S. Ramsey K, et al. Among authors: szelinger s. Mol Genet Genomic Med. 2022 Feb;10(2):e1857. doi: 10.1002/mgg3.1857. Epub 2022 Jan 7. Mol Genet Genomic Med. 2022. PMID: 34994087 Free PMC article. No abstract available.
Genomic and Transcriptomic Analysis of Relapsed and Refractory Childhood Solid Tumors Reveals a Diverse Molecular Landscape and Mechanisms of Immune Evasion.
Byron SA, Hendricks WPD, Nagulapally AB, Kraveka JM, Ferguson WS, Brown VI, Eslin DE, Mitchell D, Cornelius A, Roberts W, Isakoff MS, Oesterheld JE, Wada RK, Rawwas J, Neville K, Zage PE, Harrod VL, Bergendahl G, VanSickle E, Dykema K, Bond J, Chou HC, Wei JS, Wen X, Reardon HV, Roos A, Nasser S, Izatt T, Enriquez D, Hegde AM, Cisneros F, Christofferson A, Turner B, Szelinger S, Keats JJ, Halperin RF, Khan J, Saulnier Sholler GL, Trent JM. Byron SA, et al. Among authors: szelinger s. Cancer Res. 2021 Dec 1;81(23):5818-5832. doi: 10.1158/0008-5472.CAN-21-1033. Epub 2021 Oct 5. Cancer Res. 2021. PMID: 34610968 Free PMC article.
89 results