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Items: 1 to 50 of 148

1.

Neonatal Diabetes Mellitus Due to a Novel Variant in the INS Gene.

Laurenzano SE, McFall C, Nguyen L, Savla D, Coufal NG, Wright MS, Tokita ME, Dimmock DE, Kingsmore SF, Newfield RS.

Cold Spring Harb Mol Case Stud. 2019 Jun 13. pii: mcs.a004085. doi: 10.1101/mcs.a004085. [Epub ahead of print]

2.

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.

PMID:
31019026
3.

Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy.

Friedman J, Smith DE, Issa MY, Stanley V, Wang R, Mendes MI, Wright MS, Wigby K, Hildreth A, Crawford JR, Koehler AE, Chowdhury S, Nahas S, Zhai L, Xu Z, Lo WS, James KN, Musaev D, Accogli A, Guerrero K, Tran LT, Omar TEI, Ben-Omran T, Dimmock D, Kingsmore SF, Salomons GS, Zaki MS, Bernard G, Gleeson JG.

Nat Commun. 2019 Feb 12;10(1):707. doi: 10.1038/s41467-018-07067-3.

4.

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.

5.

Evaluating the discriminating capacity of cell death (apoptotic) biomarkers in sepsis.

Duplessis C, Gregory M, Frey K, Bell M, Truong L, Schully K, Lawler J, Langley RJ, Kingsmore SF, Woods CW, Rivers EP, Jaehne AK, Quackenbush EB, Fowler VG, Tsalik EL, Clark D.

J Intensive Care. 2018 Nov 13;6:72. doi: 10.1186/s40560-018-0341-5. eCollection 2018.

6.

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.

7.

Correction: Whole exome sequencing reveals HSPA1L as a genetic risk factor for spontaneous preterm birth.

Huusko JM, Karjalainen MK, Graham BE, Zhang G, Farrow EG, Miller NA, Jacobsson B, Eidem HR, Murray JC, Bedell B, Breheny P, Brown NW, Bødker FL, Litterman NK, Jiang PP, Russell L, Hinds DA, Hu Y; 23andMe Research Team, Rokas A, Teramo K, Christensen K, Williams SM, Rämet M, Kingsmore SF, Ryckman KK, Hallman M, Muglia LJ.

PLoS Genet. 2018 Sep 13;14(9):e1007673. doi: 10.1371/journal.pgen.1007673. eCollection 2018 Sep.

8.

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.

9.

Whole exome sequencing reveals HSPA1L as a genetic risk factor for spontaneous preterm birth.

Huusko JM, Karjalainen MK, Graham BE, Zhang G, Farrow EG, Miller NA, Jacobsson B, Eidem HR, Murray JC, Bedell B, Breheny P, Brown NW, Bødker FL, Litterman NK, Jiang PP, Russell L, Hinds DA, Hu Y; 23andMe Research Team, Rokas A, Teramo K, Christensen K, Williams SM, Rämet M, Kingsmore SF, Ryckman KK, Hallman M, Muglia LJ.

PLoS Genet. 2018 Jul 12;14(7):e1007394. doi: 10.1371/journal.pgen.1007394. eCollection 2018 Jul. Erratum in: PLoS Genet. 2018 Sep 13;14(9):e1007673.

10.

Paternally inherited cis-regulatory structural variants are associated with autism.

Brandler WM, Antaki D, Gujral M, Kleiber ML, Whitney J, Maile MS, Hong O, Chapman TR, Tan S, Tandon P, Pang T, Tang SC, Vaux KK, Yang Y, Harrington E, Juul S, Turner DJ, Thiruvahindrapuram B, Kaur G, Wang Z, Kingsmore SF, Gleeson JG, Bisson D, Kakaradov B, Telenti A, Venter JC, Corominas R, Toma C, Cormand B, Rueda I, Guijarro S, Messer KS, Nievergelt CM, Arranz MJ, Courchesne E, Pierce K, Muotri AR, Iakoucheva LM, Hervas A, Scherer SW, Corsello C, Sebat J.

Science. 2018 Apr 20;360(6386):327-331. doi: 10.1126/science.aan2261.

11.

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.

12.

The case for early use of rapid whole-genome sequencing in management of critically ill infants: late diagnosis of Coffin-Siris syndrome in an infant with left congenital diaphragmatic hernia, congenital heart disease, and recurrent infections.

Sweeney NM, Nahas SA, Chowdhury S, Campo MD, Jones MC, Dimmock DP, Kingsmore SF; RCIGM Investigators.

Cold Spring Harb Mol Case Stud. 2018 Jun 1;4(3). pii: a002469. doi: 10.1101/mcs.a002469. Print 2018 Jun.

13.

Unsupervised Analysis of Transcriptomics in Bacterial Sepsis Across Multiple Datasets Reveals Three Robust Clusters.

Sweeney TE, Azad TD, Donato M, Haynes WA, Perumal TM, Henao R, Bermejo-Martin JF, Almansa R, Tamayo E, Howrylak JA, Choi A, Parnell GP, Tang B, Nichols M, Woods CW, Ginsburg GS, Kingsmore SF, Omberg L, Mangravite LM, Wong HR, Tsalik EL, Langley RJ, Khatri P.

Crit Care Med. 2018 Jun;46(6):915-925. doi: 10.1097/CCM.0000000000003084.

14.

The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants.

Petrikin JE, Cakici JA, Clark MM, Willig LK, Sweeney NM, Farrow EG, Saunders CJ, Thiffault I, Miller NA, Zellmer L, Herd SM, Holmes AM, Batalov S, Veeraraghavan N, Smith LD, Dimmock DP, Leeder JS, Kingsmore SF.

NPJ Genom Med. 2018 Feb 9;3:6. doi: 10.1038/s41525-018-0045-8. eCollection 2018.

15.

A community approach to mortality prediction in sepsis via gene expression analysis.

Sweeney TE, Perumal TM, Henao R, Nichols M, Howrylak JA, Choi AM, Bermejo-Martin JF, Almansa R, Tamayo E, Davenport EE, Burnham KL, Hinds CJ, Knight JC, Woods CW, Kingsmore SF, Ginsburg GS, Wong HR, Parnell GP, Tang B, Moldawer LL, Moore FE, Omberg L, Khatri P, Tsalik EL, Mangravite LM, Langley RJ.

Nat Commun. 2018 Feb 15;9(1):694. doi: 10.1038/s41467-018-03078-2.

16.

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.

17.

Erratum: Constellation: a tool for rapid, automated phenotype assignment of a highly polymorphic pharmacogene, CYP2D6, from whole-genome sequences.

Twist GP, Gaedigk A, Miller NA, Farrow EG, Willig LK, Dinwiddie DL, Petrikin JE, Soden SE, Herd S, Gibson M, Cakici JA, Riffel AK, Leeder JS, Dinakarpandian D, Kingsmore SF.

NPJ Genom Med. 2017 Jan 11;2:16039. doi: 10.1038/npjgenmed.2016.39. eCollection 2017.

18.

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.

19.

Whole genome sequencing of an African American family highlights toll like receptor 6 variants in Kawasaki disease susceptibility.

Kim J, Shimizu C, Kingsmore SF, Veeraraghavan N, Levy E, Ribeiro Dos Santos AM, Yang H, Flatley J, Hoang LT, Hibberd ML, Tremoulet AH, Harismendy O, Ohno-Machado L, Burns JC.

PLoS One. 2017 Feb 2;12(2):e0170977. doi: 10.1371/journal.pone.0170977. eCollection 2017.

20.

Newborn Sequencing in Genomic Medicine and Public Health.

Berg JS, Agrawal PB, Bailey DB Jr, Beggs AH, Brenner SE, Brower AM, Cakici JA, Ceyhan-Birsoy O, Chan K, Chen F, Currier RJ, Dukhovny D, Green RC, Harris-Wai J, Holm IA, Iglesias B, Joseph G, Kingsmore SF, Koenig BA, Kwok PY, Lantos J, Leeder SJ, Lewis MA, McGuire AL, Milko LV, Mooney SD, Parad RB, Pereira S, Petrikin J, Powell BC, Powell CM, Puck JM, Rehm HL, Risch N, Roche M, Shieh JT, Veeraraghavan N, Watson MS, Willig L, Yu TW, Urv T, Wise AL.

Pediatrics. 2017 Feb;139(2). pii: e20162252. doi: 10.1542/peds.2016-2252. Epub 2017 Jan 17.

21.

Clinical detection of deletion structural variants in whole-genome sequences.

Noll AC, Miller NA, Smith LD, Yoo B, Fiedler S, Cooley LD, Willig LK, Petrikin JE, Cakici J, Lesko J, Newton A, Detherage K, Thiffault I, Saunders CJ, Farrow EG, Kingsmore SF.

NPJ Genom Med. 2016 Aug 3;1:16026. doi: 10.1038/npjgenmed.2016.26. eCollection 2016.

22.

Host gene expression classifiers diagnose acute respiratory illness etiology.

Tsalik EL, Henao R, Nichols M, Burke T, Ko ER, McClain MT, Hudson LL, Mazur A, Freeman DH, Veldman T, Langley RJ, Quackenbush EB, Glickman SW, Cairns CB, Jaehne AK, Rivers EP, Otero RM, Zaas AK, Kingsmore SF, Lucas J, Fowler VG Jr, Carin L, Ginsburg GS, Woods CW.

Sci Transl Med. 2016 Jan 20;8(322):322ra11. doi: 10.1126/scitranslmed.aad6873.

23.

Constellation: a tool for rapid, automated phenotype assignment of a highly polymorphic pharmacogene, CYP2D6, from whole-genome sequences.

Twist GP, Gaedigk A, Miller NA, Farrow EG, Willig LK, Dinwiddie DL, Petrikin JE, Soden SE, Herd S, Gibson M, Cakici JA, Riffel AK, Leeder JS, Dinakarpandian D, Kingsmore SF.

NPJ Genom Med. 2016 Jan 13;1:15007. doi: 10.1038/npjgenmed.2015.7. eCollection 2016. Erratum in: NPJ Genom Med. 2017 Jan 11;2:16039.

24.

Whole-Exome Sequencing and Whole-Genome Sequencing in Critically Ill Neonates Suspected to Have Single-Gene Disorders.

Smith LD, Willig LK, Kingsmore SF.

Cold Spring Harb Perspect Med. 2015 Dec 18;6(2):a023168. doi: 10.1101/cshperspect.a023168. Review.

25.

Newborn testing and screening by whole-genome sequencing.

Kingsmore SF.

Genet Med. 2016 Mar;18(3):214-6. doi: 10.1038/gim.2015.172. Epub 2015 Dec 17. No abstract available.

PMID:
26681311
26.

Rapid whole genome sequencing and precision neonatology.

Petrikin JE, Willig LK, Smith LD, Kingsmore SF.

Semin Perinatol. 2015 Dec;39(8):623-31. doi: 10.1053/j.semperi.2015.09.009. Epub 2015 Oct 29. Review.

27.

A novel epileptic encephalopathy mutation in KCNB1 disrupts Kv2.1 ion selectivity, expression, and localization.

Thiffault I, Speca DJ, Austin DC, Cobb MM, Eum KS, Safina NP, Grote L, Farrow EG, Miller N, Soden S, Kingsmore SF, Trimmer JS, Saunders CJ, Sack JT.

J Gen Physiol. 2015 Nov;146(5):399-410. doi: 10.1085/jgp.201511444.

28.

MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates.

Guimier A, Gabriel GC, Bajolle F, Tsang M, Liu H, Noll A, Schwartz M, El Malti R, Smith LD, Klena NT, Jimenez G, Miller NA, Oufadem M, Moreau de Bellaing A, Yagi H, Saunders CJ, Baker CN, Di Filippo S, Peterson KA, Thiffault I, Bole-Feysot C, Cooley LD, Farrow EG, Masson C, Schoen P, Deleuze JF, Nitschké P, Lyonnet S, de Pontual L, Murray SA, Bonnet D, Kingsmore SF, Amiel J, Bouvagnet P, Lo CW, Gordon CT.

Nat Genet. 2015 Nov;47(11):1260-3. doi: 10.1038/ng.3376. Epub 2015 Oct 5.

29.

A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases.

Miller NA, Farrow EG, Gibson M, Willig LK, Twist G, Yoo B, Marrs T, Corder S, Krivohlavek L, Walter A, Petrikin JE, Saunders CJ, Thiffault I, Soden SE, Smith LD, Dinwiddie DL, Herd S, Cakici JA, Catreux S, Ruehle M, Kingsmore SF.

Genome Med. 2015 Sep 30;7:100. doi: 10.1186/s13073-015-0221-8.

30.

Emergency medical genomes: a breakthrough application of precision medicine.

Kingsmore SF, Petrikin J, Willig LK, Guest E.

Genome Med. 2015 Jul 30;7(1):82. doi: 10.1186/s13073-015-0201-z. eCollection 2015.

31.

CXCR3 Polymorphism and Expression Associate with Spontaneous Preterm Birth.

Karjalainen MK, Ojaniemi M, Haapalainen AM, Mahlman M, Salminen A, Huusko JM, Määttä TA, Kaukola T, Anttonen J, Ulvila J, Haataja R, Teramo K, Kingsmore SF, Palotie A, Muglia LJ, Rämet M, Hallman M.

J Immunol. 2015 Sep 1;195(5):2187-98. doi: 10.4049/jimmunol.1501174. Epub 2015 Jul 24.

32.

Cerebral Palsy and Polymorphism of the Chemokine CCL18 in Very Preterm Children.

Kallankari H, Huusko JM, Kaukola T, Ojaniemi M, Mahlman M, Marttila R, Kingsmore SF, Haataja L, Lavoie PM, Synnes A, Hallman M.

Neonatology. 2015;108(2):124-9. doi: 10.1159/000430765. Epub 2015 Jun 20.

PMID:
26113374
33.

Renal systems biology of patients with systemic inflammatory response syndrome.

Tsalik EL, Willig LK, Rice BJ, van Velkinburgh JC, Mohney RP, McDunn JE, Dinwiddie DL, Miller NA, Mayer ES, Glickman SW, Jaehne AK, Glew RH, Sopori ML, Otero RM, Harrod KS, Cairns CB, Fowler VG, Rivers EP, Woods CW, Kingsmore SF, Langley RJ.

Kidney Int. 2015 Oct;88(4):804-14. doi: 10.1038/ki.2015.150. Epub 2015 May 20.

34.

A patient with polymerase E1 deficiency (POLE1): clinical features and overlap with DNA breakage/instability syndromes.

Thiffault I, Saunders C, Jenkins J, Raje N, Canty K, Sharma M, Grote L, Welsh HI, Farrow E, Twist G, Miller N, Zwick D, Zellmer L, Kingsmore SF, Safina NP.

BMC Med Genet. 2015 May 7;16:31. doi: 10.1186/s12881-015-0177-y.

35.

Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings.

Willig LK, Petrikin JE, Smith LD, Saunders CJ, Thiffault I, Miller NA, Soden SE, Cakici JA, Herd SM, Twist G, Noll A, Creed M, Alba PM, Carpenter SL, Clements MA, Fischer RT, Hays JA, Kilbride H, McDonough RJ, Rosterman JL, Tsai SL, Zellmer L, Farrow EG, Kingsmore SF.

Lancet Respir Med. 2015 May;3(5):377-87. doi: 10.1016/S2213-2600(15)00139-3. Epub 2015 Apr 27.

36.

Human metabolic response to systemic inflammation: assessment of the concordance between experimental endotoxemia and clinical cases of sepsis/SIRS.

Kamisoglu K, Haimovich B, Calvano SE, Coyle SM, Corbett SA, Langley RJ, Kingsmore SF, Androulakis IP.

Crit Care. 2015 Mar 3;19:71. doi: 10.1186/s13054-015-0783-2.

37.

Alström Syndrome: Mutation Spectrum of ALMS1.

Marshall JD, Muller J, Collin GB, Milan G, Kingsmore SF, Dinwiddie D, Farrow EG, Miller NA, Favaretto F, Maffei P, Dollfus H, Vettor R, Naggert JK.

Hum Mutat. 2015 Jul;36(7):660-8. doi: 10.1002/humu.22796. Epub 2015 May 18.

38.

CLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduria.

Saunders C, Smith L, Wibrand F, Ravn K, Bross P, Thiffault I, Christensen M, Atherton A, Farrow E, Miller N, Kingsmore SF, Ostergaard E.

Am J Hum Genet. 2015 Feb 5;96(2):258-65. doi: 10.1016/j.ajhg.2014.12.020. Epub 2015 Jan 15.

39.

An integrated transcriptome and expressed variant analysis of sepsis survival and death.

Tsalik EL, Langley RJ, Dinwiddie DL, Miller NA, Yoo B, van Velkinburgh JC, Smith LD, Thiffault I, Jaehne AK, Valente AM, Henao R, Yuan X, Glickman SW, Rice BJ, McClain MT, Carin L, Corey GR, Ginsburg GS, Cairns CB, Otero RM, Fowler VG Jr, Rivers EP, Woods CW, Kingsmore SF.

Genome Med. 2014 Nov 26;6(11):111. doi: 10.1186/s13073-014-0111-5. eCollection 2014.

40.

Loss of function variants in human PNPLA8 encoding calcium-independent phospholipase A2 γ recapitulate the mitochondriopathy of the homologous null mouse.

Saunders CJ, Moon SH, Liu X, Thiffault I, Coffman K, LePichon JB, Taboada E, Smith LD, Farrow EG, Miller N, Gibson M, Patterson M, Kingsmore SF, Gross RW.

Hum Mutat. 2015 Mar;36(3):301-6. doi: 10.1002/humu.22743. Erratum in: Hum Mutat. 2015 Jun;36(6):656.

41.

Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders.

Soden SE, Saunders CJ, Willig LK, Farrow EG, Smith LD, Petrikin JE, LePichon JB, Miller NA, Thiffault I, Dinwiddie DL, Twist G, Noll A, Heese BA, Zellmer L, Atherton AM, Abdelmoity AT, Safina N, Nyp SS, Zuccarelli B, Larson IA, Modrcin A, Herd S, Creed M, Ye Z, Yuan X, Brodsky RA, Kingsmore SF.

Sci Transl Med. 2014 Dec 3;6(265):265ra168. doi: 10.1126/scitranslmed.3010076.

42.

Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations.

Milner JD, Vogel TP, Forbes L, Ma CA, Stray-Pedersen A, Niemela JE, Lyons JJ, Engelhardt KR, Zhang Y, Topcagic N, Roberson ED, Matthews H, Verbsky JW, Dasu T, Vargas-Hernandez A, Varghese N, McClain KL, Karam LB, Nahmod K, Makedonas G, Mace EM, Sorte HS, Perminow G, Rao VK, O'Connell MP, Price S, Su HC, Butrick M, McElwee J, Hughes JD, Willet J, Swan D, Xu Y, Santibanez-Koref M, Slowik V, Dinwiddie DL, Ciaccio CE, Saunders CJ, Septer S, Kingsmore SF, White AJ, Cant AJ, Hambleton S, Cooper MA.

Blood. 2015 Jan 22;125(4):591-9. doi: 10.1182/blood-2014-09-602763. Epub 2014 Oct 30.

43.

Utility of next generation sequencing in clinical primary immunodeficiencies.

Raje N, Soden S, Swanson D, Ciaccio CE, Kingsmore SF, Dinwiddie DL.

Curr Allergy Asthma Rep. 2014 Oct;14(10):468. doi: 10.1007/s11882-014-0468-y.

44.

Integrative "omic" analysis of experimental bacteremia identifies a metabolic signature that distinguishes human sepsis from systemic inflammatory response syndromes.

Langley RJ, Tipper JL, Bruse S, Baron RM, Tsalik EL, Huntley J, Rogers AJ, Jaramillo RJ, O'Donnell D, Mega WM, Keaton M, Kensicki E, Gazourian L, Fredenburgh LE, Massaro AF, Otero RM, Fowler VG Jr, Rivers EP, Woods CW, Kingsmore SF, Sopori ML, Perrella MA, Choi AM, Harrod KS.

Am J Respir Crit Care Med. 2014 Aug 15;190(4):445-55. doi: 10.1164/rccm.201404-0624OC.

45.

Comment on "validation of a blood-based laboratory test to aid in the confirmation of a diagnosis of schizophrenia".

Kingsmore SF.

Biomark Insights. 2014 Mar 23;9:7. doi: 10.4137/BMI.S15196. eCollection 2014.

46.

Expansion of CCR4+ activated T cells is associated with memory B cell reduction in DOCK8-deficient patients.

Caracciolo S, Moratto D, Giacomelli M, Negri S, Lougaris V, Porta F, Pajno G, Salpietro A, Montin D, Dinwiddie DL, Kingsmore SF, Plebani A, Badolato R.

Clin Immunol. 2014 May-Jun;152(1-2):164-70. doi: 10.1016/j.clim.2014.03.008. Epub 2014 Mar 24.

PMID:
24674883
47.

Polymorphisms of the gene encoding Kit ligand are associated with bronchopulmonary dysplasia.

Huusko JM, Mahlman M, Karjalainen MK, Kaukola T, Haataja R, Marttila R, Toldi G, Szabó M, Kingsmore SF, Rämet M, Lavoie PM, Hallman M; Gen-BPD Study Group.

Pediatr Pulmonol. 2015 Mar;50(3):260-270. doi: 10.1002/ppul.23018. Epub 2014 Mar 9.

PMID:
24610823
48.

Clinical, laboratory and molecular signs of immunodeficiency in patients with partial oculo-cutaneous albinism.

Dotta L, Parolini S, Prandini A, Tabellini G, Antolini M, Kingsmore SF, Badolato R.

Orphanet J Rare Dis. 2013 Oct 17;8:168. doi: 10.1186/1750-1172-8-168. Review.

49.

A host-based RT-PCR gene expression signature to identify acute respiratory viral infection.

Zaas AK, Burke T, Chen M, McClain M, Nicholson B, Veldman T, Tsalik EL, Fowler V, Rivers EP, Otero R, Kingsmore SF, Voora D, Lucas J, Hero AO, Carin L, Woods CW, Ginsburg GS.

Sci Transl Med. 2013 Sep 18;5(203):203ra126. doi: 10.1126/scitranslmed.3006280.

50.

De novo frameshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies.

Dinwiddie DL, Soden SE, Saunders CJ, Miller NA, Farrow EG, Smith LD, Kingsmore SF.

BMC Med Genomics. 2013 Sep 17;6:32. doi: 10.1186/1755-8794-6-32.

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