Rachel N. Palmquist, MS, CGC

Journal Article

1. Diness BR, Palmquist RN, Norling R, Hove H, Bundgaard H, Hertz JM, Kondziella D, Krieger D, Dunø M, Grønborg (2020). Expanding the cerebrovascular phenotype of the p.R258H variant in ACTA2 related hereditary thoracic aortic disease (HTAD). Journal of the neurological sciences, 415, 116897. (Read full publication)
2. Palmquist R, Jenkins SM, Bentley D, Miller C, Mao R, Meibos B, Bayrak-Toydemir P, Tvrdik T, Nadauld LD, Bleyl SB, Chowdhury S, Ostrander B, Flores-Daboub J, Longo N, Tristani-Firouzi M, Hobbs C, Bonkowsky JL, Brunelli (2022). Evaluating use of changing technologies for rapid next-generation sequencing in pediatrics. Pediatric research, (Read full publication)
3. Nicholas TJ, Al-Sweel N, Farrell A, Mao R, Bayrak-Toydemir P, Miller CE, Bentley D, Palmquist R, Moore B, Hernandez EJ, Cormier MJ, Fredrickson E, Noble K, Rynearson S, Holt C, Karren MA, Bonkowsky JL, Tristani-Firouzi M, Yandell M, Marth G, Quinlan AR, Brunelli L, Toydemir RM, Shayota BJ, Carey JC, Boyden SE, Malone Jenkins (2022). Comprehensive variant calling from whole-genome sequencing identifies a complex inversion that disrupts ZFPM2 in familial congenital diaphragmatic hernia. Molecular genetics & genomic medicine, 10(4), e1888. (Read full publication)
4. Tower DR, Day RW, Marrone T, Palmquist R, Nadauld LD, Bonkowsky JL, Malone Jenkins (2024). Rapid genome diagnosis of alveolar capillary dysplasia leading to treatment in a child with respiratory and cardiac failure. Cold Spring Harbor molecular case studies, 9(4), (Read full publication)
5. Li D, Wang Q, Bayat A, Battig MR, Zhou Y, Bosch DG, van Haaften G, Granger L, Petersen AK, Pérez-Jurado LA, Aznar-Laín G, Aneja A, Hancarova M, Bendova S, Schwarz M, Kremlikova Pourova R, Sedlacek Z, Keena BA, March ME, Hou C, O'Connor N, Bhoj EJ, Harr MH, Lemire G, Boycott KM, Towne M, Li M, Tarnopolsky M, Brady L, Parker MJ, Faghfoury H, Parsley LK, Agolini E, Dentici ML, Novelli A, Wright M, Palmquist R, Lai K, Scala M, Striano P, Iacomino M, Zara F, Cooper A, Maarup TJ, Byler M, Lebel RR, Balci TB, Louie R, Lyons M, Douglas J, Nowak C, Afenjar A, Hoyer J, Keren B, Maas SM, Motazacker MM, Martinez-Agosto JA, Rabani AM, McCormick EM, Falk MJ, Ruggiero SM, Helbig I, Møller RS, Tessarollo L, Tomassoni Ardori F, Palko ME, Hsieh TC, Krawitz PM, Ganapathi M, Gelb BD, Jobanputra V, Wilson A, Greally J, Jacquemont S, Jizi K, Bruel AL, Quelin C, Misra VK, Chick E, Romano C, Greco D, Arena A, Morleo M, Nigro V, Seyama R, Uchiyama Y, Matsumoto N, Taira R, Tashiro K, Sakai Y, Yigit G, Wollnik B, Wagner M, Kutsche B, Hurst AC, Thompson ML, Schmidt R, Randolph L, Spillmann RC, Shashi V, Higginbotham EJ, Cordeiro D, Carnevale A, Costain G, Khan T, Funalot B, Tran Mau-Them F, Fernandez Garcia Moya L, García-Miñaúr S, Osmond M, Chad L, Quercia N, Carrasco D, Li C, Sanchez-Valle A, Kelley M, Nizon M, Jensson BO, Sulem P, Stefansson K, Gorokhova S, Busa T, Rio M, Hadj Habdallah H, Lesieur-Sebellin M, Amiel J, Pingault V, Mercier S, Vincent M, Philippe C, Fatus-Fauconnier C, Friend K, Halligan RK, Biswas S, Rosser J, Shoubridge C, Corbett M, Barnett C, Gecz J, Leppig K, Slavotinek A, Marcelis C, Pfundt R, de Vries BB, van Slegtenhorst MA, Brooks AS, Cogne B, Rambaud T, Tümer Z, Zackai EH, Akizu N, Song Y, Hakonarson (2024). Spliceosome malfunction causes neurodevelopmental disorders with overlapping features. The Journal of clinical investigation, 134(1), (Read full publication)
6. Prinzi J, Pasquali M, Hobert JA, Palmquist R, Wong KN, Francis S, De Biase (2023). Diagnosing X-Linked Adrenoleukodystrophy after Implementation of Newborn Screening: A Reference Laboratory Perspective. International journal of neonatal screening, 9(4), (Read full publication)
7. Bonser D, Malone Jenkins S, Palmquist R, Guthery S, Bonkowsky JL, Jaramillo (2023). Rapid Genome Sequencing Diagnosis in Pediatric Patients with Liver Dysfunction. The Journal of pediatrics, 260, 113534. (Read full publication)
8. Rothwell E, Riches NO, Johnson E, Kaphingst KA, Kehoe K, Jenkins SM, Palmquist R, Torr C, Frost CJ, Wong B, Bonkowsky J (2023). Evaluating visual imagery for participant understanding of research concepts in genomics research. Journal of community genetics, 14(1), 51-62. (Read full publication)
9. Reynolds HM, Wen T, Farrell A, Mao R, Moore B, Boyden SE, Bayrak-Toydemir P, Nicholas TJ, Rynearson S, Holt C, Miller C, Noble K, Bentley D, Palmquist R, Ostrander B, Manberg S, Bonkowsky JL, Shayota BJ, Jenkins S (2022). Rapid genome sequencing identifies a novel de novo SNAP25 variant for neonatal congenital myasthenic syndrome. Cold Spring Harbor molecular case studies, 8(7), (Read full publication)
10. McKnight D, Morales A, Hatchell KE, Bristow SL, Bonkowsky JL, Perry MS, Berg AT, Borlot F, Esplin ED, Moretz C, Angione K, Ríos-Pohl L, Nussbaum RL, Aradhya S, ELEVIATE Consortium, Haldeman-Englert CR, Levy RJ, Parachuri VG, Lay-Son G, de Montellano DJD, Ramirez-Garcia MA, Benítez Alonso EO, Ziobro J, Chirita-Emandi A, Felix TM, Kulasa-Luke D, Megarbane A, Karkare S, Chagnon SL, Humberson JB, Assaf MJ, Silva S, Zarroli K, Boyarchuk O, Nelson GR, Palmquist R, Hammond KC, Hwang ST, Boutlier SB, Nolan M, Batley KY, Chavda D, Reyes-Silva CA, Miroshnikov O, Zuccarelli B, Amlie-Wolf L, Wheless JW, Seinfeld S, Kanhangad M, Freeman JL, Monroy-Santoyo S, Rodriguez-Vazquez N, Ryan MM, Machie M, Guerra P, Hassan MJ, Candee MS, Bupp CP, Park KL, Muller E 2nd, Lupo P, Pedersen RC, Arain AM, Murphy A, Schatz K, Mu W, Kalika PM, Plaza L, Kellogg MA, Lora EG, Carson RP, Svystilnyk V, Venegas V, Luke RR, Jiang H, Stetsenko T, Dueñas-Roque MM, Trasmonte J, Burke RJ, Hurst ACE, Smith DM, Massingham LJ, Pisani L, Costin CE, Ostrander B, Filloux FM, Ananth AL, Mohamed IS, Nechai A, Dao JM, Fahey MC, Aliu E, Falchek S, Press CA, Treat L, Eschbach K, Starks A, Kammeyer R, Bear JJ, Jacobson M, Chernuha V, Meibos B, Wong K, Sweney MT, Espinoza AC, Van Orman CB, Weinstock A, Kumar A, Soler-Alfonso C, Nolan DA, Raza M, Rojas Carrion MD, Chari G, Marsh ED, Shiloh-Malawsky Y, Parikh S, Gonzalez-Giraldo E, Fulton S, Sogawa Y, Burns K, Malets M, Montiel Blanco JD, Habela CW, Wilson CA, Guzmán GG, Pavliuk (2022). Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice. JAMA neurology, 79(12), 1267-1276. (Read full publication)
11. Walton NA, Hafen B, Graceffo S, Sutherland N, Emmerson M, Palmquist R, Formea CM, Purcell M, Heale B, Brown MA, Danford CJ, Rachamadugu SI, Person TN, Shortt KA, Christensen GB, Evans JM, Raghunath S, Johnson CP, Knight S, Le VT, Anderson JL, Van Meter M, Reading T, Haslem DS, Hansen IC, Batcher B, Barker T, Sheffield TJ, Yandava B, Taylor DP, Ranade-Kharkar P, Giauque CC, Eyring KR, Breinholt JW, Miller MR, Carter PR, Gillman JL, Gunn AW, Knowlton KU, Bonkowsky JL, Stefansson K, Nadauld LD, McLeod H (2022). The Development of an Infrastructure to Facilitate the Use of Whole Genome Sequencing for Population Health. Journal of personalized medicine, 12(11), (Read full publication)
12. Sandoval Karamian AG, Baker M, Palmquist R, Wilkes J, Porter C, Olsen J, Dempsey L, Tidwell TJ, Sweney M, Bonkowsky J (2024). Pediatric Epilepsy Genetic Testing Results and Long-term Seizure Freedom. Journal of child neurology, 39(11-12), 409-414. (Read full publication)
13. Rimmasch M, Wilson CA, Walton NA, Huynh K, Bonkowsky JL, Palmquist (2024). Factors impacting time to genetic diagnosis for children with epilepsy. Epilepsia open, 9(6), 2495-2504. (Read full publication)
14. Geilmann S, Solstad R, Palmquist R, Flores Daboub J, Botto LD, Grubb PH, Bonkowsky JL, Longo N, Malone Jenkins (2023). A novel RAD51 variant resulting in Fanconi anemia identified in an infant with multiple congenital anomalies. Clinical case reports, 11(1), e6810. (Read full publication)
15. Jenkins SM, Palmquist R, Shayota BJ, Solorzano CM, Bonkowsky JL, Estabrooks P, Tristani-Firouzi (2025). Breaking barriers: fostering equitable access to pediatric genomics through innovative care models and technologies. Pediatric research, (Read full publication)