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Items: 25


Biallelic loss of GNAS in a patient with pediatric medulloblastoma.

Tokita MJ, Nahas S, Briggs B, Malicki DM, Mesirov JP, Reyes IAC, Farnaes L, Levy ML, Kingsmore SF, Dimmock D, Crawford JR, Wechsler-Reya RJ.

Cold Spring Harb Mol Case Stud. 2019 Oct 23;5(5). pii: a004572. doi: 10.1101/mcs.a004572. Print 2019 Oct.


A Randomized, Controlled Trial of the Analytic and Diagnostic Performance of Singleton and Trio, Rapid Genome and Exome Sequencing in Ill Infants.

Kingsmore SF, Cakici JA, Clark MM, Gaughran M, Feddock M, Batalov S, Bainbridge MN, Carroll J, Caylor SA, Clarke C, Ding Y, Ellsworth K, Farnaes L, Hildreth A, Hobbs C, James K, Kint CI, Lenberg J, Nahas S, Prince L, Reyes I, Salz L, Sanford E, Schols P, Sweeney N, Tokita M, Veeraraghavan N, Watkins K, Wigby K, Wong T, Chowdhury S, Wright MS, Dimmock D; RCIGM Investigators.

Am J Hum Genet. 2019 Oct 3;105(4):719-733. doi: 10.1016/j.ajhg.2019.08.009. Epub 2019 Sep 26.


Rapid Whole Genome Sequencing Has Clinical Utility in Children in the PICU.

Sanford EF, Clark MM, Farnaes L, Williams MR, Perry JC, Ingulli EG, Sweeney NM, Doshi A, Gold JJ, Briggs B, Bainbridge MN, Feddock M, Watkins K, Chowdhury S, Nahas SA, Dimmock DP, Kingsmore SF, Coufal NG; RCIGM Investigators.

Pediatr Crit Care Med. 2019 Nov;20(11):1007-1020. doi: 10.1097/PCC.0000000000002056.


Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation.

Clark MM, Hildreth A, Batalov S, Ding Y, Chowdhury S, Watkins K, Ellsworth K, Camp B, Kint CI, Yacoubian C, Farnaes L, Bainbridge MN, Beebe C, Braun JJA, Bray M, Carroll J, Cakici JA, Caylor SA, Clarke C, Creed MP, Friedman J, Frith A, Gain R, Gaughran M, George S, Gilmer S, Gleeson J, Gore J, Grunenwald H, Hovey RL, Janes ML, Lin K, McDonagh PD, McBride K, Mulrooney P, Nahas S, Oh D, Oriol A, Puckett L, Rady Z, Reese MG, Ryu J, Salz L, Sanford E, Stewart L, Sweeney N, Tokita M, Van Der Kraan L, White S, Wigby K, Williams B, Wong T, Wright MS, Yamada C, Schols P, Reynders J, Hall K, Dimmock D, Veeraraghavan N, Defay T, Kingsmore SF.

Sci Transl Med. 2019 Apr 24;11(489). pii: eaat6177. doi: 10.1126/scitranslmed.aat6177.


Vaccine Strain Varicella Infection in an Infant With Previously Undiagnosed Perinatal Human Immunodeficiency Type-1 Infection.

Farnaes L, Coufal NG, Spector SA.

Pediatr Infect Dis J. 2019 Apr;38(4):413-415. doi: 10.1097/INF.0000000000002183.


Community-acquired pneumonia in children: cell-free plasma sequencing for diagnosis and management.

Farnaes L, Wilke J, Ryan Loker K, Bradley JS, Cannavino CR, Hong DK, Pong A, Foley J, Coufal NG.

Diagn Microbiol Infect Dis. 2019 Jun;94(2):188-191. doi: 10.1016/j.diagmicrobio.2018.12.016. Epub 2019 Feb 2.


Concomitant diagnosis of immune deficiency and Pseudomonas sepsis in a 19 month old with ecthyma gangrenosum by host whole-genome sequencing.

Sanford E, Farnaes L, Batalov S, Bainbridge M, Laubach S, Worthen HM, Tokita M, Kingsmore SF, Bradley J.

Cold Spring Harb Mol Case Stud. 2018 Dec 17;4(6). pii: a003244. doi: 10.1101/mcs.a003244. Print 2018 Dec.


Novel Factor XIII variant identified through whole-genome sequencing in a child with intracranial hemorrhage.

Briggs B, James KN, Chowdhury S, Thornburg C, Farnaes L, Dimmock D, Kingsmore SF; RCIGM Investigators.

Cold Spring Harb Mol Case Stud. 2018 Dec 17;4(6). pii: a003525. doi: 10.1101/mcs.a003525. Print 2018 Dec.


Hematologic Manifestations of Nutritional Deficiencies: Early Recognition is Essential to Prevent Serious Complications.

Yu JC, Shliakhtsitsava K, Wang YM, Paul M, Farnaes L, Wong V, Kim J, Thornburg CD.

J Pediatr Hematol Oncol. 2019 Apr;41(3):e182-e185. doi: 10.1097/MPH.0000000000001338.


Rapid Diagnosis of KCNQ2-Associated Early Infantile Epileptic Encephalopathy Improved Outcome.

Chen DY, Chowdhury S, Farnaes L, Friedman JR, Honold J, Dimmock DP, Gold OBOTRIJJ.

Pediatr Neurol. 2018 Sep;86:69-70. doi: 10.1016/j.pediatrneurol.2018.06.002. Epub 2018 Jul 10. No abstract available.


Genomic sequencing in acutely ill infants: what will it take to demonstrate clinical value?

Grosse SD, Farnaes L.

Genet Med. 2019 Feb;21(2):269-271. doi: 10.1038/s41436-018-0124-3. Epub 2018 Aug 13. No abstract available.


Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases.

Clark MM, Stark Z, Farnaes L, Tan TY, White SM, Dimmock D, Kingsmore SF.

NPJ Genom Med. 2018 Jul 9;3:16. doi: 10.1038/s41525-018-0053-8. eCollection 2018.


Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization.

Farnaes L, Hildreth A, Sweeney NM, Clark MM, Chowdhury S, Nahas S, Cakici JA, Benson W, Kaplan RH, Kronick R, Bainbridge MN, Friedman J, Gold JJ, Ding Y, Veeraraghavan N, Dimmock D, Kingsmore SF.

NPJ Genom Med. 2018 Apr 4;3:10. doi: 10.1038/s41525-018-0049-4. eCollection 2018.


Rapid whole-genome sequencing identifies a novel AIRE variant associated with autoimmune polyendocrine syndrome type 1.

Sanford E, Watkins K, Nahas S, Gottschalk M, Coufal NG, Farnaes L, Dimmock D, Kingsmore SF; RCIGM Investigators.

Cold Spring Harb Mol Case Stud. 2018 Jun 1;4(3). pii: a002485. doi: 10.1101/mcs.a002485. Print 2018 Jun. Review.


Encephalitis and Thalamic Injury From Neuroinvasive West Nile Virus in Children on Treatment for Acute Lymphoblastic Leukemia.

Farnaes L, Schiff D, McElroy AK, Coufal NG, Crawford JR, Cannavino C.

Pediatr Neurol. 2018 Mar;80:84-87. doi: 10.1016/j.pediatrneurol.2017.11.013. Epub 2017 Dec 2. No abstract available.


Rapid whole-genome sequencing identifies a novel GABRA1 variant associated with West syndrome.

Farnaes L, Nahas SA, Chowdhury S, Nelson J, Batalov S, Dimmock DM, Kingsmore SF; RCIGM Investigators.

Cold Spring Harb Mol Case Stud. 2017 Sep 1;3(5). pii: a001776. doi: 10.1101/mcs.a001776. Print 2017 Sep.


Recognizing that the microbiome is part of the human immune system will advance treatment of both cancer and infections.

Gallo RL, Hultsch T, Farnaes L.

J Am Acad Dermatol. 2016 Apr;74(4):772-4. doi: 10.1016/j.jaad.2015.11.039. No abstract available.


Prolonged Antimuscarinic Delirium in a Child Due to Benztropine Exposure Treated With Multiple Doses of Physostigmine.

Thornton SL, Farnaes L, Minns A.

Pediatr Emerg Care. 2016 Apr;32(4):243-5. doi: 10.1097/PEC.0000000000000503.


Napyradiomycin derivatives, produced by a marine-derived actinomycete, illustrate cytotoxicity by induction of apoptosis.

Farnaes L, Coufal NG, Kauffman CA, Rheingold AL, DiPasquale AG, Jensen PR, Fenical W.

J Nat Prod. 2014 Jan 24;77(1):15-21. doi: 10.1021/np400466j. Epub 2013 Dec 13.


Napyradiomycins CNQ525.510B and A80915C target the Hsp90 paralogue Grp94.

Farnaes L, La Clair JJ, Fenical W.

Org Biomol Chem. 2014 Jan 21;12(3):418-23. doi: 10.1039/c3ob41355a. Epub 2013 Nov 29.


Bactericidal kinetics of marine-derived napyradiomycins against contemporary methicillin-resistant Staphylococcus aureus.

Haste NM, Farnaes L, Perera VR, Fenical W, Nizet V, Hensler ME.

Mar Drugs. 2011;9(4):680-9. doi: 10.3390/md9040680. Epub 2011 Apr 21.


Molecular characterization of the circulating anti-HIV-1 gp120-specific B cell repertoire using antibody phage display libraries generated from pre-selected HIV-1 gp120 binding PBLs.

Koefoed K, Farnaes L, Wang M, Svejgaard A, Burton DR, Ditzel HJ.

J Immunol Methods. 2005 Feb;297(1-2):187-201. Epub 2005 Jan 27.


A cell-penetrating peptide from a novel pVII-pIX phage-displayed random peptide library.

Gao C, Mao S, Ditzel HJ, Farnaes L, Wirsching P, Lerner RA, Janda KD.

Bioorg Med Chem. 2002 Dec;10(12):4057-65.


Cloning and expression of a novel human antibody-antigen pair associated with Felty's syndrome.

Ditzel HJ, Masaki Y, Nielsen H, Farnaes L, Burton DR.

Proc Natl Acad Sci U S A. 2000 Aug 1;97(16):9234-9.

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