Jill R Murrell, PhD
Associate Professor of Clinical Pathology and Laboratory Medicine
Department: Pathology and Laboratory Medicine
Contact information
Division of Genomic Diagnostics Lab
Dept. of Pathology & Lab Medicine
The Children’s Hospital of Philadelphia
3615 Civic Center Blvd., 716 ARC
Philadelphia, PA 19104
Dept. of Pathology & Lab Medicine
The Children’s Hospital of Philadelphia
3615 Civic Center Blvd., 716 ARC
Philadelphia, PA 19104
Office: 215-590-3264
Fax: 215-590-2156
Fax: 215-590-2156
Email:
murrellj@email.chop.edu
murrellj@email.chop.edu
Education:
BA
Ball State University, 1986.
PhD
Indiana University, 1992.
Permanent linkBA
Ball State University, 1986.
PhD
Indiana University, 1992.
Selected Publications
Qi C, Lovestam S, Murzin AG, Peak-Chew S, Franco C, Bogdani M, Latimer C, Murrell JR, Cullinane PW, Jaunmuktane Z, Bird TD, Ghetti B, Scheres SHW, Goedert M. : Tau filaments with the Alzheimer fold in human MAPT mutants V337M and R406W. Nat Struct Mol Biol March 2025.Sabeh P, Dumas SA, Maios C, Daghar H, Korzeniowski M, Rousseau J, Lines M, Guerin A, Millichap JJ, Landsverk M, Grebe T, Lindstrom K, Strober J, Ait Mouhoub T, Zweier C, Steinraths M, Hebebrand M, Callewaert B, Abou Jamra R, Kautza-Lucht M, Wegler M, Kruszka P, Kumps C, Banne E, Waberski MB, Dieux A, Raible S, Krantz I, Medne L, Pechter K, Villard L, Guerrini R, Bianchini C, Barba C, Mei D, Blanc X, Kallay C, Ranza E, Yang XR, O'Heir E, Donald KA, Murugasen S, Bruwer Z, Calikoglu M, Mathews JM, Lesieur-Sebellin M, Baujat G, Derive N, Pierson TM, Murrell JR, Shillington A, Ormieres C, Rondeau S, Reis A, Fernandez-Jaen A, Au PYB, Sweetser DA, Briere LC, Couque N, Perrin L, Schymick J, Gueguen P, Lefebvre M, Van Andel M, Juusola J, Antonarakis SE, Parker JA, Burnett BG, Campeau PM.: Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability Am J Hum Genet 112(1), January 2025.
Deb W, Rosenfelt C, Vignard V, Papendorf JJ, Möller S, Wendlandt M, Studencka-Turski M, Cogné B, Besnard T, Ruffier L, Toutain B, Poirier L, Cuinat S, Kritzer A, Crunk A, diMonda J, Vengoechea J, Mercier S, Kleinendorst L, van Haelst MM, Zuurbier L, Sulem T, Katrínardóttir H, Friðriksdóttir R, Sulem P, Stefansson K, Jonsdottir B, Zeidler S, Sinnema M, Stegmann APA, Naveh N, Skraban CM, Gray C, Murrell JR, Isikay S, Pehlivan D, Calame DG, Posey JE, Nizon M, McWalter K, Lupski JR, Isidor B, Bolduc FV, Bézieau S, Krüger E, Küry S, Ebstein F.: PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon response. Am J Hum Genet 111(7), July 2024.
Burrill N, Khalek N, Cristancho AG, Coleman B, Murrell J, Moldenhauer JS: Fetus with multiple congenital anomaly syndrome caused by novel variant in ATP1A2. Prenat Diagn March 2024.
Yamamoto N, Balciuniene J, Hartman T, Diaz-Miranda MA, Bedoukian E, Devkota B, Lawrence A, Golenberg N, Patel M, Tare A, Chen R, Schindler E, Choi J, Kaur M, Charles S, Chen J, Fanning EA, Dechene E, Cao K, Jill MR, Rajagopalan R, Bayram Y, Dulik MC, Germiller J, Conlin LK, Krantz ID, Luo M.: Comprehensive Gene Panel Testing for Hearing Loss in Children: Understanding Factors Influencing Diagnostic Yield. J Pediatr 262: 113620, Nov 2023 Notes: DOI: 10.1016/j.jpeds.2023.113620. Epub 2023 Jul 19.
Schweighauser M, Garringer HJ, Klingstedt T, Nilsson KPR, Masuda-Suzukake M, Murrell JR, Risacher SL, Vidal R, Scheres SHW, Goedert M, Ghetti B, Newell KL.: Mutation deltaK281 in MAPT causes Pick's disease. Acta Neuropathol. 146(2): 211-226, Aug 2023.
Schönauer R, Jin W, Findeisen C, Valenzuela I, Devlin LA, Murrell J, Bedoukian EC, Pöschla L, Hantmann E, Riedhammer KM, Hoefele J, Platzer K, Biemann R, Campeau PM, Münch J, Heyne H, Hoffmann A, Ghosh A, Sun W, Dong H, Noé F, Wolfrum C, Woods E, Parker MJ, Neatu R, Le Guyader G, Bruel AL, Perrin L, Spiewak H; Genomics England Research Consortium; Missotte I, Fourgeaud M, Michaud V, Lacombe D, Paolucci SA, Buchan JG, Glissmeyer M, Popp B, Blüher M, Sayer JA, Halbritter J.: Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene's candidacy in 6q16.1 deletions Am J Hum Genet. 110(6): 998-1007, June 2023.
Regan-Fendt KE, Rippert AL, Medne L, Skraban CM, DeJesse J, Gray C, Reichert SL, Staropoli NP, Reynoso Santos FJ, Krantz ID, Murrell JR and Izumi K. : Retrospective identification of patients with SRRM2-related neurodevelopmental disorder in a single tertiary children's hospital Am J Med Genet A May 2023.
Sharma M, Leung D, Momenilandi M, Jones LCW, Pacillo L, James AE, Murrell JR, Delafontaine S, Maimaris, Vaseghi-Shanjani M, Del Bel KL, Lu HY, Chua GT, Di Cesare S, Fornes O, Liu Z, Di Matteo G, Fu MP, Amodio D, Tam IYS, Chan GSW, Sharma AA, Dalmann J, van der Lee R, Blanchard-Rohner G, Lin S, Philippot Q, Richmond PA, Lee JJ, Matthews A, Seear M, Turvey AK, Philips RL, Brown-Whitehorn TF, Gray CJ, Izumi K, Treat JR, Wood KH, Lack J, Khleborodova A, Niemela JE, Yang X, Liang R, Kui L, Wong CSM, Poon GWK, Hoischen A, van der Made Ci, Yang J, Chan KW, Sou Da Rosa Duque J, Lee PPW, Ho MHK, Chung BHY, Le HTM, Yang W, Rohani P, Fouladvand A,Rokni-Zadeh H, Changi-Ashtiani M, Miryounesi M, Puel A, Shahrooei M, Finocchi A, Rossi P, Rivalta B, Cifaldi C, Novelli A, Passarelli C, Arasi S, Bullens D, Sauer K, Claeys T, Biggs CM, Morris EC, Rosenzweig SD, O'Shea JJ, Wasserman WW, Bedford HM, van Karnebeek CDM, Palma P, Burns SO, Meyts I, Casanova J-L, Lyons JJ, Parvaneh N, Van Nguyen AT, Cancrini C, Heimall J, Ahmed H, McKinnon ML, Lau YL, Béziat V, Turvey SE: Human germline heterozygous gain-of-function STAT6 variants cause severe allergic disease J Exp Med March 2023.
Chan AJS, Wood KH, Knoblauch J, Pechter K, Cao K, Wang J, Murrell JR, Conlin LK: Examining the factors impacting molecular diagnosis during clinical exome sequencing re-analysis. American Journal of Human Genetics October 2022.