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
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 ∆K281 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.
Cuinat S, Nizon M, Isidor B, Stegmann A, van Jaarsveld RH, van Gassen KL, van der Smagt JL, Volker-Touw CML, Holwerda SJB, Terhal PA, Schuhmann S, Vasileiou G, Khalifa M, Nugud AA, Yasaei H, Ousager LB, Brasch-Andersen C, Deb W, Besnard T, Simon MEH, Huijsdens-van Amsterdam K, Verbeek NE, Matalon D, Dykzeul N, White S, Spiteri E, Devriendt K, Boogaerts A, Willemsen M, Brunner HG, Sinnema M, De Vries BBA, Gerkes EH, Pfundt R, Izumi K, Krantz ID, Xu ZL, Murrell JR, Valenzuela I, Cusco I, Rovira-Moreno E, Yang Y, Bizaoui V, Patat O, Faivre L, Tran-Mau-Them F, Vitobello A, Denomme-Pichon A-S, Philippe C, Bezieau S, Cogne B: Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder. Genet Med 24(8): 1774-1780, August 2022.
Ritter AL, Gold J, Hayashi H, Ackermann AM, Hanke S, Skraban C, Cuddapah S, Bhoj E, Li D, Kuroda Y, Wen J, Takeda R, Bibb A, Chedaheh S, Piton A, Ohl J, Kukolich MK, Nagasaki K, Kato K, Ogi T, Bhatti T, Russo P, Krock B, Murrell JR, Sullivan JA, Shashi V, Strong N, Hakonarson H, Sawano K, Torti E, Willaert R, Si Y, Wilcox WR, Wirgenes KV, Thomassen K, Carlotti K, Erwin A, Lazier J, Marquardt T, He M, Edmondson AC, Izumi K.: Expanding the phenotypic spectrum of ARCN1-related syndrome. Genet Med 24(6): 1227-1237, June 2022.
Murrell JR, Nesbitt AMI, Baker SW, Pechter KB, Balciuniene J, Zhao X, Denenberg EH, DeChene ET, Wu C, Jayaraman P, Cao K, Gonzalez M, Devoto M, Testori A, Monos JD, Dulik MC, Conlin LK, Luo M, McDonald Gibson K, Guan Q, Sarmady M, Bhoj E, Helbig I, Zackai EH, Bedoukian EC, Wilkens A, Tarpinian J, Izumi K, Skraban CM, Deardorff MA, Medne L, Krantz ID, Krock BL, Santani AB.: Molecular Diagnostic Outcomes from 700 Cases: What Can We Learn from a Retrospective Analysis of Clinical Exome Sequencing? J Mol Diagn 24(3): 274-286, March 2022.
Stevens SJC, Stumpel CTRM, Diderich KEM, van Slegtenhorst MA, Abbott MA, Manning C, Balciuniene J, Pyle LC, Leonard J, Murrell JR, van de Putte R, van Rooij IALM, Hoischen A, Lasko P, Brunner HG.: The broader phenotypic spectrum of congenital caudal abnormalities associated with mutations in the caudal type homeobox 2 gene. Clin Genet 101, Feb 2022.
Abrahamson EE, Kofler JK, Becker CR, Price JC, Newell KL, Ghetti B, Murrell JR, McLean CA, Lopez OL, Mathis CA, Klunk WE, Villemagne VL, Ikonomovic MD.: 11C-PiB PET can underestimate brain amyloid-β burden when cotton wool plaques are numerous Brain 145(6): 2161-2176, Dec 2021.