Yavuz Bayram, MD

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Yavuz Bayram, MD, is the Assistant Laboratory Director with the Division of Genomic Diagnostics at Children's Hospital of Philadelphia.

Appointments and Referrals: 1-800-TRY-CHOP (1-800-879-2467)

Education and Training

Medical School

MD - University of Istanbul, Cerrahpasa School of Medicine-English Section, Istanbul, Turkey

Residency

Medical Genetics - Hacettepe University Faculty of Medicine, Ankara, Turkey

Fellowship

Postdoctoral Fellow in ABMGG Laboratory Genetics & Genomics - Icahn School of Medicine at Mount Sinai, New York, NY

Titles and Academic Titles

Assistant Laboratory Director

Assistant Professor of Clinical Pathology and Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania

Departments and Services

Publications

Papers

2020

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 synd rome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide. Eur J Hum Genet. 2020 Sep;28(9):1243-1264.

Marafi D, Mitani T, Isikay S, Hertecant J, Almannai M, Manickam K, Abou Jamra R, El-Hattab AW, Rajah J, Fatih JM, Du H, Karaca E, Bayram Y, Punetha J, Rosenfeld JA, Jhangiani SN, Boerwinkle E, Akdemir ZC, Erdin S, Hunter JV, Gibbs RA, Pehlivan D, Posey JE, Lupski JR.Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy. Ann Clin Transl Neurol. 2020 May;7(5):610-627.

2019

Karaca E, Posey JE, Bostwick B, Liu P, Gezdirici A, Yesil G, Coban Akdemir Z, Bayram Y, Harms FL, Meinecke P, Alawi M, Bacino CA, Sutton VR, Kortüm F, Lupski JR. Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycleopathies with Microcephaly, Dwarfism and Skeletal Abnormalities. Am J Med Genet A. 2019 Oct;179(10):2056-2066.

Paralog Studies Augment Gene Discovery: DDX and DHX Genes. Paine I, Posey JE, Grochowski CM, Jhangiani SN, Rosenheck S, Kleyner R, Marmorale T, Yoon M, Wang K, Robison R, Cappuccio G, Pinelli M, Magli A, Coban Akdemir Z, Hui J, Yeung WL, Wong BKY, Ortega L, Bekheirnia MR, Bierhals T, Hempel M, Johannsen J, Santer R, Aktas D, Alikasifoglu M, Bozdogan S, Aydin H, Karaca E, Bayram Y, Ityel H, Dorschner M, White JJ, Wilichowski E, Wortmann SB, Casella EB, Kitajima JP, Kok F, Monteiro F, Muzny DM, Bamshad M, Gibbs RA, Sutton VR; University of Washington Center for Mendelian Genomics, Baylor-Hopkins Center for Mendelian Genomics, Telethon Undiagnosed Diseases Program, Van Esch H, Brunetti-Pierri N, Hildebrandt F, Brautbar A, Van den Veyver IB, Glass I, Lessel D, Lyon GJ, Lupski JR. Am J Hum Genet. 2019 Aug 1;105(2):302-316.

 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. 2019 Jul 3;105(1):132-150.

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. 2019 Aug 1;104(8):3049-3067.

2018

Coban-Akdemir Z, White JJ, Song X, Jhangiani SN, Fatih JM, Gambin T, Bayram Y, Chinn I, Karaca E, Punetha J, Poli C, Baylor-Hopkins Center for Mendelian Genomics, Boerwinkle E, Shaw CA, Orange JS, Gibbs RA, Lappalainen T, Lupksi JR, Carvalho CMB.Identifying genes whose mutant transcripts cause dominant disease traits by potential gain-of-function alleles. Am J Hum Genet. 2018 Aug 2;103(2):171-187.

Karaca E, Posey JE, Coban-Akdemir Z, Pehlivan D, Harel T, Jhangiani SN, Bay ram 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 2018 Dec;20(12):1528-1537.

Chen A, Tiosano D, Guran T, Baris HN, Bayram Y (co-first author), Mory A, Shapiro-Kulnane L, Hodges CA, Coban-Akdemir Z, Turan S, Jhangiani SN, van den Akker F, Hoppel CL, Salz HK, Lupski JR, Buchner DA. Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency. Hum Mol Genet. 2018 Jun 1;27(11):1913- 1926.

Yesil G, Aralasmak A, Akyuz E, Icagasioglu D, Uygur Sahin T, Bayram Y.Expanding the Phenotype of Homozygous KCNMA1 Mutations; Dyskinesia, Epilepsy, Intellectual Disability, Cerebellar and Corticospinal Tract Atrophy. Balkan Med J. 2018 Jul 24;35(4):336- 339.

Dinckan N, Du R, Coban-Akdemir Z, Bayram Y, Jhangiani SN, Doddapaneni H, Hu J, Muzny DM, Guven Y, Aktoren O, Kayserili H, Boerwinkle E, Gibbs RA, Posey JE, Lupski JR, Uyguner ZO, Letra A.A biallelic ANTXR1 variant expands the anthrax toxin receptor associated phenotype to tooth agenesis. Am J Med Genet A. 2018 Apr;176(4):1015-1022.

White JJ, Mazzeu JF, Coban-Akdemir Z, Bayram Y, Bahrambeigi V, Hoischen A, van Bon BWM, Gezdirici A, Gulec EY, Ramond F, Touraine R, Thevenon J, Shinawi M, Beaver E, Heeley J, Hoover-Fong J, Durmaz CD, Karabulut HG, Marzioglu-Ozdemir E, Çayir A, Duz MB, Seven M, Price S, Ferreira BM, Vianna-Morgante AM, Ellard S, Parrish A, Stals K, Flores-Daboub J, Jhangiani SN, Gibbs RA, Baylor-Hopkins Center for Mendelian Genomics, Brunner HG, Sutton VR, Lupski JR, Carvalho CMB.WNT signaling perturbations underlie the genetic heterogeneity of Robinow syndrome. Am J Hum Genet. 2018 Jan 4;102(1):27- 43.

2017

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. 2017 Jul 6;101(1):149-156.

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. 2017 Feb 28;45(4):1633-1648.

Stray-Pedersen A, Sorte HS, Samarakoon P, Gambin T, Chinn IK, Bayram Y et al.Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders. J Allergy Clin Immunol. 2017 Jan;139(1):232-245.

2016

Ma L, Bayram Y, McLaughlin HM, Cho MT, Krokosky A, Turner CE, Lindstrom K, Bupp CP, Mayberry K, Mu W, Bodurtha J, Weinstein V, Zadeh N, Alcaraz W, Powis Z, Shao Y, Scott DA, Lewis AM, White JJ, Jhangiani SN, Gulec EY, Lalani SR, Lupski JR, Retterer K, Schnur RE, Wentzensen IM, Bale S, Chung WK. De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease. Hum Genet. 2016 Dec;135(12):1399-1409.

Harel T, Yesil G, Bayram Y, Coban-Akdemir Z, Charng WL, Karaca E, Al Asmari A, Eldomery MK, Hunter JV, Jhangiani SN, Rosenfeld JA, Pehlivan D, El-Hattab AW, Saleh MA, LeDuc CA, Muzny D, Boerwinkle E; Baylor-Hopkins Center for Mendelian Genomics, Gibbs RA, Chung WK, Yang Y, Belmont JW, Lupski JR. Monoallelic and biallelic variants in EMC1 identified in individuals with global developmental delay, hypotonia, scoliosis, and cerebellar atrophy. Am J Hum Genet. 2016 Mar 3;98(3):562-70.

White JJ, Mazzeu JF, Hoischen A, Bayram Y, Withers M, Gezdirici A, Kimonis V, Steehouwer M, Jhangiani SN, Muzny DM, Gibbs RA; Baylor-Hopkins Center for Mendelian Genomics, van Bon BW, Sutton VR, Lupski JR, Brunner HG, Carvalho CM. DVL3 alleles resulting in a -1 frameshift of the last exon mediate autosomal-dominant Robinow syndrome. Am J Hum Genet. 2016 Mar 3;98(3):553-61.

Bayram Y, Karaca E, Coban Akdemir Z, Yilmaz EO, Tayfun GA, Aydin H, Torun D, Bozdogan ST, Gezdirici A, Isikay S, Atik MM, Gambin T, Harel T, El-Hattab AW, Charng WL, Pehlivan D, Jhangiani SN, Muzny DM, Karaman A, Celik T, Yuregir OO, Yildirim T, Bayhan IA, Boerwinkle E, Gibbs RA, Elcioglu N, Tuysuz B, Lupski JR.Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin. J Clin Inve st. 2016 Feb;126(2):762-78.

2015

Karaca E, Harel T, Pehlivan D, Jhangiani SN, Gambin T, Coban Akdemir Z, Gonzaga-Jauregui C, Erdin S, Bayram Y, et al. Genes that affect brain structure and function identified by rare variant analyses of Mendelian neurologic disease. 0Neuron. 2015 Nov 4;88(3):499-513.

Karaca E, Yuregir OO, Bozdogan ST, Aslan H, Pehlivan D, Jhangiani SN, Akdemir ZC, Gambin T, Bayram Y, Atik MM, Erdin S, Muzny D, Gibbs RA, Lupski JR; Baylor-Hopkins Center for Mendelian Genomics. Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel-Feil syndrome. Am J Med Genet A. 2015 Nov;167(11):2795-9.

Bayram Y, Aydin H, Gambin T, Akdemir ZC, Atik MM, Karaca E, Karaman A, Pehlivan D, Jhangiani SN, Gibbs RA, Lupski JR. Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral-facial-digital syndrome type VI. Am J Med Genet A. 2015 Sep;167A(9):2132-7.

Pehlivan D, Coban Akdemir Z, Karaca E, Bayram Y, Jhangiani S, Yildiz EP, Muzny D, Uluc K, Gibbs RA; Baylor-Hopkins Center for Mendelian Genomics, Elcioglu N, Lupski JR, Harel T. Exome sequencing reveals homozygous TRIM2 mutation in a patient with early onset CMT and bilateral vocal cord paralysis. Hum Genet. 2015 Jun;134(6):671-3.

Bayram Y, Gulsuner S, Guran T, Abaci A, Yesil G, Gulsuner HU, Atay Z, Pierce SB, Gambin T, Lee M, Turan S, Bober E, Atik MM, Walsh T, Karaca E, Pehlivan D, Jhangiani SN, Muzny D, Bereket A, Buyukgebiz A, Boerwinkle E, Gibbs RA, King MC, Lupski JR. Homozygous loss-of-function mutations in SOHLH1 in patients with nonsyndromic hypergonadotropic hypogonadism. J Clin Endocrinol Metab. 2015 May;100(5):E808-14.

Yuan B, Pehlivan D, Karaca E, Patel N, Charng WL, Gambin T, Gonzaga-Jauregui C, Sutton VR, Yesil G, Bozdogan ST, Tos T, Koparir A, Koparir E, Beck CR, Gu S, Aslan H, Yuregir OO, Al Rubeaan K, Alnaqeb D, Alshammari MJ, Bayram Y, Atik MM, Aydin H, Geckinli BB, Seven M, Ulucan H, Fenercioglu E, Ozen M, Jhangiani S, Muzny DM, Boerwinkle E, Tuysuz B, Alkuraya FS, Gibbs RA, Lupski JR. Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes. J Clin Invest. 2015 Feb;125(2):636-51.

Karaca E, Buyukkaya R, Pehlivan D, Charng WL, Yaykasli KO, Bayram Y, Gambin T, Withers M, Atik MM, Arslanoglu I, Bolu S, Erdin S, Buyukkaya A, Yaykasli E, Jhangiani SN, Muzny DM, Gibbs RA, Lupski JR. Whole exome sequencing identifies homozygous GPR161 mutation in a family with pituitary stalk interruption syndrome. J Clin Endocrinol Metab. 2015 Jan;100(1):E140-7.

2014

Bayram Y, Pehlivan D, Karaca E, Gambin T, Jhangiani SN, Erdin S, Gonzaga-Jauregui C, Wiszniewski W, Muzny D; Baylor-Hopkins Center for Mendelian Genomics, Elcioglu NH, Yildirim MS, Bozkurt B, Zamani AG, Boerwinkle E, Gibbs RA, Lupski JR. Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome. Am J Med Genet A. 2014 Sep;164A(9):2328-34.

Simsek-Kiper PO, Bayram Y, Utine GE, Alanay Y, Boduroglu K. A de novo 11q23 deletion in a patient presenting with severe ophthalmologic findings, psychomotor retardation and facial dysmorphism. Turk J Pediatr. 2014 Jan-Feb;56(1):80-4.

Posters and Presentations

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.

Marafi DN, Mitani T, Isikay S, Hertecant J, Holick M, Karaca E, Bayram Y, Fatih J, Punetha J, Rosenfeld JA, Jhangiani SN, Pehlivan D, Boerwinkle E, Gibbs RA, Posey JE, Lupski JR. GRM7 causes a severe neurodevelopmental disorder characterized by microcephaly, refractory epilepsy, and global developmental delay. American Society of Human Genetics 69th Annual Meeting, Houston, Texas/USA. October 15-19, 2019.

Gonzaga-Jauregui C, Yesil G, Nistala H, Gezdirici A, Bayram Y, Nannuru K, Pehlivan D, Jimenez J, Sahin Y, Paine IS, Coban-Akdemir Z, Schlesinger AE, Ramirez N, Santiago A, Wu N, Nierman K, Walls J, Poueymirou W, Siao CJ, Sutton VR, Posey JE, Economides A, Carlo S, Tegay DH, Gibbs RA, Lupski JR. The role of COL27A1 in skeletal development: Additional pathogenic variants from Turkish kindreds and mouse modeling of the Steel syndrome Puerto Rican founder allele. American Society of Human Genetics 69th Annual Meeting, Houston, Texas/USA. October 15-19, 2019.

Punetha J, Somg X, Posey JE, Pehlivan D, Coban-Akdemir Z, Rosenfeld JA, Karaca E, Bayram Y, Jhangiani SN, Mitani T, Fatih JM, Muzny DM, Gibbs RA, Liu P, Shaw CA, Lupski JR. Utilizing phenotypic similarity analyses to distinguish and identify multiple molecular diagnoses. American Society of Human Genetics 69th Annual Meeting, Houston, Texas/USA. October 15-19, 2019.

Coban Akdemir Z, Song X, Pehlivan D, Karaca E, Bayram Y, Gambin T, Jhangiani SN, Muzny D, Lewis R, Liu P, Boerwinkle E, Hamosh A, Gibbs RA, Sobreira N, Carvalho CMB, Posey JE, Shaw CA, Valle D, Lupski JR. Long-sized AOH regions reveal IBD haplotypes that drive Mendelian disease through mutational burden at a locus. American Society of Human Genetics 69th Annual Meeting, Houston, Texas/USA. October 15-19, 2019.

Hijazi H, Yilmaz E, Romeo Bertola D, Lopes Yamamoto G, da Costa SS, Kocak Eker H, Elcioglu N, Gezdirici A, Isikay S, Coban Akdemir ZH, Bayram Y, Rosenberg C, Carvalho CMB, Posey JE, Jhangiani SN, Muzny DM, Pehlivan D, Gibbs RA, Lupski JR. Multi-locus variation of Notch and Hedgehog signaling pathways potentially contributing to cases of limb anomalies. American Society of Human Genetics 69th Annual Meeting, Houston, Texas/USA. October 15-19, 2019.

Pehlivan D, Mitani T, Punetha J, Marafi D, Akdemir ZC, Gezdirici A, Isikay S, Yilmaz Gulec E, Fatih JM, Ayaz A, Akalin I, Yilmaz S, Karaca E, Bayram Y, Jhangiani SN, Boerwinkle E, Gibbs RA, Posey JE, Lupski JR.Genes contributing to brain malformation and neurodevelopmental syndromes in a Turkish population. American Society of Human Genetics 69th Annual Meeting, Houston, Texas/USA. October 15-19, 2019.

Gezdirici A, Pehlivan D, Punetha J, Yilmaz Gulec E, Elmas M, Isikay S, Bayram Y, Akdemir ZC, Fatih JM, Jhangiani SN, Karaca E, Gibbs RA, Elcioglu NH, Lupski JR. Expanding the spectrum of KLHL7, novel mutation, and evidence for multilocus pathogenic variation. American Society of Human Genetics 69th Annual Meeting, Houston, Texas/USA. October 15-19, 2019.

Biallelic novel variants in SPEG causing arthrogryposis and neuromuscular phenotype. Fatih JM, Punetha J, Gezdirici A, Tarnopolsky M, Tuysuz B, Bayram Y, Akdemir ZC, Brady L, Jhangiani SN, Muzny DM, Pehlivan D, Gibbs RA, Posey JE, Lupski JR. American Society of Human Genetics 69th Annual Meeting, Houston, Texas/USA. October 15-19, 2019.

Abali ZY, Jolly A, Guran T, Bayram Y, Abali S, Bas S, Akdemir ZC, Posey JE, Helvacioglu D, Kirkgoz T, Eltan M, Kaygusuz SB, Lupski JR, Bereket A, Turan S. Hypergonadotropic Hypogonadism in 46, XX Adolescents Without Gonadotoxic Therapy: Clinical Features and Molecular Etiologies. European Society for Paediatric Endocrinology 58th Annual Meeting, Vienna/Austria. September 19-21, 2019.

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.

Song X, Coban-Akdemir Z, Pehlivan D, Karaca E, Bayram Y, Gambin T, Jhangiani SN, Muzny DM, Shaw CA, Lewis RA, Baylor-Hopkins Center for Mendelian Genomics, Liu P, Boerwinkle E, Hamosh A, Gibbs RA, Sobreira N, Carvalho CMB, Posey JE, Valle D, Lupski JR. Merging genomics with per locus genetics studies reveals insights into the genetic architecture of disease. Annual Centers for Mendelian Genomics in Person Meeting, Bethesda, Maryland/USA. March 20-22, 2019.

Leadership and Memberships

Memberships in Professional Organizations

International

2009-present, Turkish Society of Medical Genetics
2007-present, Turkish Medical Association

National

2013-present, American Society of Human Genetics