Yavuz Bayram, MD, FACMG
Assistant Professor of Clinical Pathology and Laboratory Medicine
Department: Pathology and Laboratory Medicine
Contact information
Division of Genomic Diagnostics
Dept. of Pathology & Lab Medicine
The Children’s Hospital of Philadelphia
3615 Civic Center Blvd., ARC - Suite 710A
Philadelphia, PA 19104
Dept. of Pathology & Lab Medicine
The Children’s Hospital of Philadelphia
3615 Civic Center Blvd., ARC - Suite 710A
Philadelphia, PA 19104
Office: 267-426-1373
Education:
MD
University of Istanbul, Cerrahpasa School of Medicine-English Section, Istanbul, Turkey, 2007.
Permanent linkMD
University of Istanbul, Cerrahpasa School of Medicine-English Section, Istanbul, Turkey, 2007.
Selected Publications
Gonzaga-Jauregui C, Yesil G, Nistala H, Gezdirici A, Bayram Y, Nannuru KC, Pehlivan D, Yuan B, Jimenez J, Sahin Y, Paine IS, Akdemir ZC, Rajamani S, Staples J, Dronzek J, Howell K, Fatih JM, Smaldone S, Schlesinger AE, Ramirez N, Cornier AS, Kelly MA, Haber R, Chim SM, Nieman K, Wu N, Walls J; Baylor-Hopkins Center for Mendelian Genetics, Regeneron Genetics Center, Poueymirou W, Siao CJ, Sutton VR, Williams MS, Posey JE, Gibbs RA, Carlo S, Tegay DH, Economides AN, Lupski JR.: Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide. Eur J Hum Genet. 28(9): 1243-1264, September 2020.Pehlivan D, Bayram Y (co-first author), Gunes N, Coban- Akdemir Z, Shukla A, Tatjana B, Tabakci B, Sahin Y, Gezdirici A, Fatih JM, Yilmaz-Gulec E, Yesil G, Punetha J, Ocak Z, Grochowski CM, Karaca E, Mutlu-Albayrak H, Radhakrishnan P, Erdem HB, Sahin I, Yildirim T, Bayhan IA, Bursali A, Elmas M, Yuksel Z, Ozdemir O, Silan F, Yildiz O, Yesilbas O, Isikay S, Balta B, Gu S, Jhangiani SN, Doddapaneni H, Hu J, Muzny DM, Baylor-Hopkins Center for Mendelian Genomics, Boerwinkle E, Gibbs RA, Tsiakas K, Hempel M, Girisha KM, Gul D, Posey JE, Elcioglu NH, Tuysuz B, Lupski JR. : The genomics of arthrogryposis, a complex trait: Candidate genes and further evidence for oligogenic inheritance. Am J Hum Genet. 105(1): 132-150, Jul 3 2019.
Jolly A, Bayram Y (co-first author), Turan S, Aycan Z, Tos T, Abali ZY, Hacihamdioglu B, Coban Akdemir ZH, Hijazi H, Bas S, Atay Z, Guran T, Abali S, Bas F, Darendeliler F, Colombo R, Barakat TS, Rinne T, White JJ, Yesil G, Gezdirici A, Gulec EY, Karaca E, Pehlivan D, Jhangiani SN, Muzny DM, Poyrazoglu S, Bereket A, Gibbs RA, Posey JE, Lupski JR. : Exome sequencing of a primary ovarian insufficiency cohort reveals common molecular etiologies for a spectrum of disease. J Clin Endocrinol Metab. 104(8): 3049-3067, Aug 2019.
Bayram Y, Barrows J, Khan W, Fox R, Shi L, Cai1 G, Cai1 X, Manheimer K, Mendiratta-Vij G, Jiang W, Yang Y, Sha Y, Arif M, Wan H, Spencer E, Cody N, Lu X, Kim J, Hibbs D, Croken M, Holt J, McLellan A, Van den Berg S, Schadt E, Edelmann L, Suer F. : Design and validation of a single customized next-generation sequencing capture library for neurodevelopmental, cardiac, immune, and inflammatory bowel diseases. American Society of Human Genetics 69th Annual Meeting, Houston, Texas/USA. October 15-19, 2019 Notes: Poster Presentation.
Bayram Y, Singh R, Guo T, Shi L, Edelmann L, Scott SA. : Clinical Significance and Distribution of Absence of Heterozygosity in a Large Clinical Chromosomal Microarray Cohort. American College of Medical Genetics and Genomics Annual Clinical Genetics Meeting, Seattle, Washington/USA. April 2-6, 2019 Notes: Poster Presentation.
Karaca E, Posey JE, Coban-Akdemir Z, Pehlivan D, Harel T, Jhangiani SN, Bayram Y, Song X, Bahrambeigi V, Ozalp Yuregir O, Bozdogan S, Yesil G, Isikay S, Muzny D, Gibbs RA, Lupski JR. : Phenotypic expansion illuminates multilocus pathogenic variation. Genet Med 20(12): 1528-1537, Dec 2018.
Bayram Y, White JJ, Elcioglu N, Cho MT, Zadeh N, Gedikbasi A, Palanduz S, Ozturk S, Cefle K, Kasapcopur O, Coban Akdemir Z, Pehlivan D, Begtrup A, Carvalho CMB, Paine IS, Mente A, Bektas Kayhan K, Karaca E, Jhangiani SN, Muzny DM, Gibbs RA, Lupski JR. : REST final-exon-truncating mutations cause hereditary gingival fibromatosis. Am J Hum Genet. 101(1): 149-156, Jul 6; 2017
Gambin T, Akdemir ZC, Yuan B, Gu S, Chiang T, Carvalho CM, Shaw C, Jhangiani S, Boone PM, Eldomery MK, Karaca E, Bayram Y, Stray-Pedersen A, Muzny D, Charng WL, Bahrambeigi V, Belmont JW, Boerwinkle E, Beaudet AL, Gibbs RA, Lupski JR. : Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort. Nucleic Acids Res. 45(4): 1633-1648, Feb 28 2017
Stray-Pedersen A, Sorte HS, Samarakoon P, Gambin T, Chinn IK, Coban-Akdemir ZH, Erichsen HC, Forbes LR, Gu S, Yuan B, Jhangiani SN, Muzny DM, Rødningen OK, Sheng Y, Nicholas SK, Noroski LM, Seeborg FO, Davis CM, Canter DL, Mace EM, Vece TJ, Allen CE, Abhyankar HA, Boone PM, Beck CR, Wiszniewski W, Fevang B, Aukrust P, Tjønnfjord GE, Gedde-Dahl T, Hjorth-Hansen H, Dybedal I, Nordøy I, Jørgensen SF, Abrahamsen TG, Øverland T, Bechensteen AG, Skogen V, Osnes LT, Kulseth MA, Prescott TE, Rustad CF, Heimdal KR, Belmont JW, Rider NL, Chinen J, Cao TN, Smith EA, Caldirola MS, Bezrodnik L, Lugo Reyes SO, Espinosa Rosales FJ, Guerrero-Cursaru ND, Pedroza LA, Poli CM, Franco JL, Trujillo Vargas CM, Aldave Becerra JC, Wright N, Issekutz TB, Issekutz AC, Abbott J, Caldwell JW, Bayer DK, Chan AY, Aiuti A, Cancrini C, Holmberg E, West C, Burstedt M, Karaca E, Yesil G, Artac H, Bayram Y, Atik MM, Eldomery MK, Ehlayel MS, Jolles S, Flatø B, Bertuch AA, Hanson IC, Zhang VW, Wong LJ, Hu J, Walkiewicz M, Yang Y, Eng CM, Boerwinkle E, Gibbs RA, Shearer WT, Lyle R, Orange JS, Lupski JR. : Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders. J Allergy Clin Immunol. 139(1): 232-245, Jan 2017
Karaca E, Harel T, Pehlivan D, Jhangiani SN, Gambin T, Coban Akdemir Z, Gonzaga-Jauregui C, Erdin S, Bayram Y, Campbell IM, Hunter JV, Atik MM, Van Esch H, Yuan B, Wiszniewski W, Isikay S, Yesil G, Yuregir OO, Tug Bozdogan S, Aslan H, Aydin H, Tos T, Aksoy A, De Vivo DC, Jain P, Geckinli BB, Sezer O, Gul D, Durmaz B, Cogulu O, Ozkinay F, Topcu V, Candan S, Cebi AH, Ikbal M, Yilmaz Gulec E, Gezdirici A, Koparir E, Ekici F, Coskun S, Cicek S, Karaer K, Koparir A, Duz MB, Kirat E, Fenercioglu E, Ulucan H, Seven M, Guran T, Elcioglu N, Yildirim MS, Aktas D, Alikaşifoğlu M, Ture M, Yakut T, Overton JD, Yuksel A, Ozen M, Muzny DM, Adams DR, Boerwinkle E, Chung WK, Gibbs RA, Lupski JR. : Genes that affect brain structure and function identified by rare variant analyses of Mendelian neurologic disease. Neuron 88(3): 499-513, Nov 4 2015