Zenner K, Jensen DM, Cook TT, Dmyterko V, Bly R, Ganti S, Mirzaa GM, Dobyns WB, Perkins J, Bennett JT Cell-free DNA as a diagnostic analyte for molecular diagnosis of vascular malformations. Genetics in Medicine (accepted June 2020)
Freed AS, Clowes Candadai SV, Sikes MC, Thies J, Byers HM, Dines JN, Ndugga-Kabuye MK, Smith MB, Fogus K, Mefford HC, Lam C, Adam MP, Sun A, McGuire JK, DiGeronimo R, Dipple KM, Deutsch GH, Billimoria ZC, Bennett JT. The Impact of Rapid Exome Sequencing on Medical Management of Critically Ill Children. J Pediatr. 2020 Jun 15;. doi: 10.1016/j.jpeds.2020.06.020. [Epub ahead of print] PubMed PMID: 32553838.
Behne R, Teinert J, Wimmer M, D’Amore A, Davies AK, Scarrott JM, Eberhardt K, Brechmann B, Chen IP, Buttermore ED, Barrett L, Dwyer S, Chen T, Hirst J, Wiesener A, Segal D, Martinuzzi A, Duarte ST, Bennett JT, Bourinaris T, Houlden H, Roubertie A, Santorelli FM, Robinson M, Azzouz M, Lipton JO, Borner GHH, Sahin M, Ebrahimi-Fakhari D. Adaptor protein complex 4 deficiency: a paradigm of childhood-onset hereditary spastic paraplegia caused by defective protein trafficking. Hum Mol Genet. 2020 Jan 15;29(2):320-334. doi: 10.1093/hmg/ddz310. PubMed PMID: 31915823; PubMed Central PMCID: PMC7001721.
Miller DE, Squire A, Bennett JT. A child with autism, behavioral issues, and dysmorphic features found to have a tandem duplication within CTNND2 by mate-pair sequencing. Am J Med Genet A. 2020 Mar;182(3):543-547. doi: 10.1002/ajmg.a.61442. Epub 2019 Dec 8. PubMed PMID: 31814264.
Koczkowska M, Callens T, Chen Y, Gomes A, Hicks AD, Sharp A, Johns E, Uhas KA, Armstrong L, Bosanko KA, Babovic-Vuksanovic D, Baker L, Basel DG, Bengala M, Bennett JT, Chambers C, Clarkson LK, Clementi M, Cortés FM, Cunningham M, D’Agostino MD, Delatycki MB, Digilio MC, Dosa L, Esposito S, Fox S, Freckmann ML, Fauth C, Giugliano T, Giustini S, Goetsch A, Goldberg Y, Greenwood RS, Griffis C, Gripp KW, Gupta P, Haan E, Hachen RK, Haygarth TL, Hernández-Chico C, Hodge K, Hopkin RJ, Hudgins L, Janssens S, Keller K, Kelly-Mancuso G, Kochhar A, Korf BR, Lewis AM, Liebelt J, Lichty A, Listernick RH, Lyons MJ, Maystadt I, Martinez Ojeda M, McDougall C, McGregor LK, Melis D, Mendelsohn N, Nowaczyk MJM, Ortenberg J, Panzer K, Pappas JG, Pierpont ME, Piluso G, Pinna V, Pivnick EK, Pond DA, Powell CM, Rogers C, Ruhrman Shahar N, Rutledge SL, Saletti V, Sandaradura SA, Santoro C, Schatz UA, Schreiber A, Scott DA, Sellars EA, Sheffer R, Siqveland E, Slopis JM, Smith R, Spalice A, Stockton DW, Streff H, Theos A, Tomlinson GE, Tran G, Trapane PL, Trevisson E, Ullrich NJ, Van den Ende J, Schrier Vergano SA, Wallace SE, Wangler MF, Weaver DD, Yohay KH, Zackai E, Zonana J, Zurcher V, Claes KBM, Eoli M, Martin Y, Wimmer K, De Luca A, Legius E, Messiaen LM. Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1. Hum Mutat. 2020 Jan;41(1):299-315. doi: 10.1002/humu.23929. Epub 2019 Oct 26. PubMed PMID: 31595648; PubMed Central PMCID: PMC6973139.
Zenner K, Cheng CV, Jensen DM, Timms AE, Shivaram G, Bly R, Ganti S, Whitlock KB, Dobyns WB, Perkins J, Bennett JT. Genotype correlates with clinical severity in PIK3CA-associated lymphatic malformations. JCI Insight. 2019 Nov 1;4(21). doi: 10.1172/jci.insight.129884. PubMed PMID: 31536475; PubMed Central PMCID: PMC6948764.
Aldinger KA, Timms AE, Thomson Z, Mirzaa GM, Bennett JT, Rosenberg AB, Roco CM, Hirano M, Abidi F, Haldipur P, Cheng CV, Collins S, Park K, Zeiger J, Overmann LM, Alkuraya FS, Biesecker LG, Braddock SR, Cathey S, Cho MT, Chung BHY, Everman DB, Zarate YA, Jones JR, Schwartz CE, Goldstein A, Hopkin RJ, Krantz ID, Ladda RL, Leppig KA, McGillivray BC, Sell S, Wusik K, Gleeson JG, Nickerson DA, Bamshad MJ, Gerrelli D, Lisgo SN, Seelig G, Ishak GE, Barkovich AJ, Curry CJ, Glass IA, Millen KJ, Doherty D, Dobyns WB. Redefining the Etiologic Landscape of Cerebellar Malformations. Am J Hum Genet. 2019 Sep 5;105(3):606-615. doi: 10.1016/j.ajhg.2019.07.019. Epub 2019 Aug 29. PubMed PMID: 31474318; PubMed Central PMCID: PMC6731369.
Oosterhof N, Chang IJ, Karimiani EG, Kuil LE, Jensen DM, Daza R, Young E, Astle L, van der Linde HC, Shivaram GM, Demmers J, Latimer CS, Keene CD, Loter E, Maroofian R, van Ham TJ, Hevner RF, Bennett JT. Homozygous Mutations in CSF1R Cause a Pediatric-Onset Leukoencephalopathy and Can Result in Congenital Absence of Microglia. Am J Hum Genet. 2019 May 2;104(5):936-947. doi: 10.1016/j.ajhg.2019.03.010. Epub 2019 Apr 11. PubMed PMID: 30982608; PubMed Central PMCID: PMC6506793.
German K, Deutsch GH, Freed AS, Dipple KM, Chabra S, Bennett JT. Identification of a deletion containing TBX4 in a neonate with acinar dysplasia by rapid exome sequencing. Am J Med Genet A. 2019 May;179(5):842-845. doi: 10.1002/ajmg.a.61096. Epub 2019 Mar 3. PubMed PMID: 30828993.
Clowes Candadai SV, Sikes MC, Thies JM, Freed AS, Bennett JT. Rapid clinical exome sequencing in a pediatric ICU: Genetic counselor impacts and challenges. J Genet Couns. 2019 Apr;28(2):283-291. doi: 10.1002/jgc4.1116. PubMed PMID: 30964580; PubMed Central PMCID: PMC6481675.
Padia R, Zenner K, Bly R, Bennett JT, Bull C, Perkins J. Clinical application of molecular genetics in lymphatic malformations. Laryngoscope Investig Otolaryngol. 2019 Feb;4(1):170-173. doi: 10.1002/lio2.241. eCollection 2019 Feb. Review. PubMed PMID: 30847392; PubMed Central PMCID: PMC6383318.
Di Donato N, Timms AE, Aldinger KA, Mirzaa GM, Bennett JT, Collins S, Olds C, Mei D, Chiari S, Carvill G, Myers CT, Rivière JB, Zaki MS, Gleeson JG, Rump A, Conti V, Parrini E, Ross ME, Ledbetter DH, Guerrini R, Dobyns WB. Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly. Genet Med. 2018 Nov;20(11):1354-1364. doi: 10.1038/gim.2018.8. Epub 2018 Apr 19. PubMed PMID: 29671837; PubMed Central PMCID: PMC6195491.
Piacitelli AM, Jensen DM, Brandling-Bennett H, Gray MM, Batra M, Gust J, Thaker A, Paschal C, Tsuchiya K, Pritchard CC, Perkins J, Mirzaa GM, Bennett JT. Characterization of a severe case of PIK3CA-related overgrowth at autopsy by droplet digital polymerase chain reaction and report of PIK3CA sequencing in 22 patients. Am J Med Genet A. 2018 Nov;176(11):2301-2308. doi: 10.1002/ajmg.a.40487. Epub 2018 Jul 31. PubMed PMID: 30063105; PubMed Central PMCID: PMC6290925.
Byers HM, Jensen DM, Glass IA, Bennett JT. Minimal mosaicism, maximal phenotype: Discordance between clinical and molecular findings in two patients with tuberous sclerosis. Am J Med Genet C Semin Med Genet. 2018 Sep;178(3):374-378. doi: 10.1002/ajmg.c.31656. Epub 2018 Sep 27. PubMed PMID: 30260069.
Ebrahimi-Fakhari D, Cheng C, Dies K, Diplock A, Pier DB, Ryan CS, Lanpher BC, Hirst J, Chung WK, Sahin M, Rosser E, Darras B, Bennett JT. Clinical and genetic characterization of AP4B1-associated SPG47. Am J Med Genet A. 2018 Feb;176(2):311-318. doi: 10.1002/ajmg.a.38561. Epub 2017 Nov 28. PubMed PMID: 29193663.
Abi Habib W, Brioude F, Edouard T, Bennett JT, Lienhardt-Roussie A, Tixier F, Salem J, Yuen T, Azzi S, Le Bouc Y, Harbison MD, Netchine I. Genetic disruption of the oncogenic HMGA2-PLAG1-IGF2 pathway causes fetal growth restriction. Genet Med. 2018 Feb;20(2):250-258. doi: 10.1038/gim.2017.105. Epub 2017 Aug 10. PubMed PMID: 28796236.
Kruszka P, Tanpaiboon P, Neas K, Crosby K, Berger SI, Martinez AF, Addissie YA, Pongprot Y, Sittiwangkul R, Silvilairat S, Makonkawkeyoon K, Yu L, Wynn J, Bennett JT, Mefford HC, Reynolds WT, Liu X, Mommersteeg MTM, Chung WK, Lo CW, Muenke M. Loss of function in ROBO1 is associated with tetralogy of Fallot and septal defects. J Med Genet. 2017 Dec;54(12):825-829. doi: 10.1136/jmedgenet-2017-104611. Epub 2017 Jun 7. PubMed PMID: 28592524.
Bennett JT, Tan TY, Alcantara D, Tétrault M, Timms AE, Jensen D, Collins S, Nowaczyk MJM, Lindhurst MJ, Christensen KM, Braddock SR, Brandling-Bennett H, Hennekam RCM, Chung B, Lehman A, Su J, Ng S, Amor DJ; University of Washington Center for Mendelian Genomics.; Care4Rare Canada Consortium., Majewski J, Biesecker LG, Boycott KM, Dobyns WB, O’Driscoll M, Moog U, McDonell LM. Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis. Am J Hum Genet. 2016 Mar 3;98(3):579-587. doi: 10.1016/j.ajhg.2016.02.006. PubMed PMID: 26942290; PubMed Central PMCID: PMC4800051.
Luks VL, Kamitaki N, Vivero MP, Uller W, Rab R, Bovée JV, Rialon KL, Guevara CJ, Alomari AI, Greene AK, Fishman SJ, Kozakewich HP, Maclellan RA, Mulliken JB, Rahbar R, Spencer SA, Trenor CC 3rd, Upton J, Zurakowski D, Perkins JA, Kirsh A, Bennett JT, Dobyns WB, Kurek KC, Warman ML, McCarroll SA, Murillo R. Lymphatic and other vascular malformative/overgrowth disorders are caused by somatic mutations in PIK3CA. J Pediatr. 2015 Apr;166(4):1048-54.e1-5. doi: 10.1016/j.jpeds.2014.12.069. Epub 2015 Feb 11. PubMed PMID: 25681199; PubMed Central PMCID: PMC4498659.
Amendola LM, Dorschner MO, Robertson PD, Salama JS, Hart R, Shirts BH, Murray ML, Tokita MJ, Gallego CJ, Kim DS, Bennett JT, Crosslin DR, Ranchalis J, Jones KL, Rosenthal EA, Jarvik ER, Itsara A, Turner EH, Herman DS, Schleit J, Burt A, Jamal SM, Abrudan JL, Johnson AD, Conlin LK, Dulik MC, Santani A, Metterville DR, Kelly M, Foreman AK, Lee K, Taylor KD, Guo X, Crooks K, Kiedrowski LA, Raffel LJ, Gordon O, Machini K, Desnick RJ, Biesecker LG, Lubitz SA, Mulchandani S, Cooper GM, Joffe S, Richards CS, Yang Y, Rotter JI, Rich SS, O’Donnell CJ, Berg JS, Spinner NB, Evans JP, Fullerton SM, Leppig KA, Bennett RL, Bird T, Sybert VP, Grady WM, Tabor HK, Kim JH, Bamshad MJ, Wilfond B, Motulsky AG, Scott CR, Pritchard CC, Walsh TD, Burke W, Raskind WH, Byers P, Hisama FM, Rehm H, Nickerson DA, Jarvik GP. Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome Res. 2015 Mar;25(3):305-15. doi: 10.1101/gr.183483.114. Epub 2015 Jan 30. PubMed PMID: 25637381; PubMed Central PMCID: PMC4352885.
Bennett JT, Stickney HL, Choi WY, Ciruna B, Talbot WS, Schier AF. Maternal nodal and zebrafish embryogenesis. Nature. 2007 Nov 8;450(7167):E1-2; discussion E2-4. PubMed PMID: 17994032.
Bennett JT, Joubin K, Cheng S, Aanstad P, Herwig R, Clark M, Lehrach H, Schier AF. Nodal signaling activates differentiation genes during zebrafish gastrulation. Dev Biol. 2007 Apr 15;304(2):525-40. Epub 2007 Jan 12. PubMed PMID: 17306247; PubMed Central PMCID: PMC1885460.