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Items: 23

1.

Dramatically Amplified Thoracic Sympathetic Postganglionic Excitability and Integrative Capacity Revealed with Whole-Cell Patch-Clamp Recordings.

McKinnon ML, Tian K, Li Y, Sokoloff AJ, Galvin ML, Choi MH, Prinz A, Hochman S.

eNeuro. 2019 May 13;6(2). pii: ENEURO.0433-18.2019. doi: 10.1523/ENEURO.0433-18.2019. Print 2019 Mar/Apr.

2.

Atypical cerebral palsy: genomics analysis enables precision medicine.

Matthews AM, Blydt-Hansen I, Al-Jabri B, Andersen J, Tarailo-Graovac M, Price M, Selby K, Demos M, Connolly M, Drögemoller B, Shyr C, Mwenifumbo J, Elliott AM, Lee J, Ghani A, Stöckler S, Salvarinova R, Vallance H, Sinclair G, Ross CJ, Wasserman WW, McKinnon ML, Horvath GA, Goez H, van Karnebeek CD; TIDE BC, United for Metabolic Diseases and the CAUSES Study.

Genet Med. 2018 Dec 13. doi: 10.1038/s41436-018-0376-y. [Epub ahead of print]

PMID:
30542205
3.

A case of splenomegaly in CBL syndrome.

Coe RR, McKinnon ML, Tarailo-Graovac M, Ross CJ, Wasserman WW, Friedman JM, Rogers PC, van Karnebeek CDM.

Eur J Med Genet. 2017 Jul;60(7):374-379. doi: 10.1016/j.ejmg.2017.04.009. Epub 2017 Apr 13.

PMID:
28414188
4.

Identification of induced and naturally occurring conductive hearing loss in mice using bone conduction.

Chhan D, McKinnon ML, Rosowski JJ.

Hear Res. 2017 Mar;346:45-54. doi: 10.1016/j.heares.2017.02.001. Epub 2017 Feb 4.

5.

JAK1 gain-of-function causes an autosomal dominant immune dysregulatory and hypereosinophilic syndrome.

Del Bel KL, Ragotte RJ, Saferali A, Lee S, Vercauteren SM, Mostafavi SA, Schreiber RA, Prendiville JS, Phang MS, Halparin J, Au N, Dean JM, Priatel JJ, Jewels E, Junker AK, Rogers PC, Seear M, McKinnon ML, Turvey SE.

J Allergy Clin Immunol. 2017 Jun;139(6):2016-2020.e5. doi: 10.1016/j.jaci.2016.12.957. Epub 2017 Jan 19. No abstract available.

PMID:
28111307
6.

The importance of considering monogenic causes of autoimmunity: A somatic mutation in KRAS causing pediatric Rosai-Dorfman syndrome and systemic lupus erythematosus.

Ragotte RJ, Dhanrajani A, Pleydell-Pearce J, Del Bel KL, Tarailo-Graovac M, van Karnebeek C, Terry J, Senger C, McKinnon ML, Seear M, Prendiville JS, Tucker LB, Houghton K, Cabral DA, Guzman J, Petty RE, Brown KL, Tekano J, Wu J, Morishita KA, Turvey SE.

Clin Immunol. 2017 Feb;175:143-146. doi: 10.1016/j.clim.2016.12.006. Epub 2016 Dec 31.

PMID:
28043923
7.

Use of electric field sensors for recording respiration, heart rate, and stereotyped motor behaviors in the rodent home cage.

Noble DJ, MacDowell CJ, McKinnon ML, Neblett TI, Goolsby WN, Hochman S.

J Neurosci Methods. 2017 Feb 1;277:88-100. doi: 10.1016/j.jneumeth.2016.12.007. Epub 2016 Dec 16.

PMID:
27993527
8.

Successful clinical treatment and functional immunological normalization of human MALT1 deficiency following hematopoietic stem cell transplantation.

Rozmus J, McDonald R, Fung SY, Del Bel KL, Roden J, Senger C, Schultz KR, McKinnon ML, Davis J, Turvey SE.

Clin Immunol. 2016 Jul;168:1-5. doi: 10.1016/j.clim.2016.04.011. Epub 2016 Apr 22.

PMID:
27109639
9.

Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins.

Szafranski P, Gambin T, Dharmadhikari AV, Akdemir KC, Jhangiani SN, Schuette J, Godiwala N, Yatsenko SA, Sebastian J, Madan-Khetarpal S, Surti U, Abellar RG, Bateman DA, Wilson AL, Markham MH, Slamon J, Santos-Simarro F, Palomares M, Nevado J, Lapunzina P, Chung BH, Wong WL, Chu YWY, Mok GTK, Kerem E, Reiter J, Ambalavanan N, Anderson SA, Kelly DR, Shieh J, Rosenthal TC, Scheible K, Steiner L, Iqbal MA, McKinnon ML, Hamilton SJ, Schlade-Bartusiak K, English D, Hendson G, Roeder ER, DeNapoli TS, Littlejohn RO, Wolff DJ, Wagner CL, Yeung A, Francis D, Fiorino EK, Edelman M, Fox J, Hayes DA, Janssens S, De Baere E, Menten B, Loccufier A, Vanwalleghem L, Moerman P, Sznajer Y, Lay AS, Kussmann JL, Chawla J, Payton DJ, Phillips GE, Brosens E, Tibboel D, de Klein A, Maystadt I, Fisher R, Sebire N, Male A, Chopra M, Pinner J, Malcolm G, Peters G, Arbuckle S, Lees M, Mead Z, Quarrell O, Sayers R, Owens M, Shaw-Smith C, Lioy J, McKay E, de Leeuw N, Feenstra I, Spruijt L, Elmslie F, Thiruchelvam T, Bacino CA, Langston C, Lupski JR, Sen P, Popek E, Stankiewicz P.

Hum Genet. 2016 May;135(5):569-586. doi: 10.1007/s00439-016-1655-9. Epub 2016 Apr 12.

10.

Assembly and operation of the autopatcher for automated intracellular neural recording in vivo.

Kodandaramaiah SB, Holst GL, Wickersham IR, Singer AC, Franzesi GT, McKinnon ML, Forest CR, Boyden ES.

Nat Protoc. 2016 Apr;11(4):634-54. doi: 10.1038/nprot.2016.007. Epub 2016 Mar 3.

11.

Middle-ear and inner-ear contribution to bone conduction in chinchilla: The development of Carhart's notch.

Chhan D, Bowers P, McKinnon ML, Rosowski JJ.

Hear Res. 2016 Oct;340:144-152. doi: 10.1016/j.heares.2016.02.015. Epub 2016 Feb 24.

12.

IRAK-4 deficiency as a cause for familial fatal invasive infection by Streptococcus pneumoniae.

Grazioli S, Hamilton SJ, McKinnon ML, Del Bel KL, Hoang L, Cook VE, Hildebrand KJ, Junker AK, Turvey SE.

Clin Immunol. 2016 Feb;163:14-6. doi: 10.1016/j.clim.2015.12.007. Epub 2015 Dec 15.

PMID:
26698383
13.

Weaver Syndrome-Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro.

Cohen AS, Yap DB, Lewis ME, Chijiwa C, Ramos-Arroyo MA, Tkachenko N, Milano V, Fradin M, McKinnon ML, Townsend KN, Xu J, Van Allen MI, Ross CJ, Dobyns WB, Weaver DD, Gibson WT.

Hum Mutat. 2016 Mar;37(3):301-7. doi: 10.1002/humu.22946. Epub 2016 Jan 12.

14.

Mutations in FLNC are Associated with Familial Restrictive Cardiomyopathy.

Brodehl A, Ferrier RA, Hamilton SJ, Greenway SC, Brundler MA, Yu W, Gibson WT, McKinnon ML, McGillivray B, Alvarez N, Giuffre M, Schwartzentruber J; FORGE Canada Consortium, Gerull B.

Hum Mutat. 2016 Mar;37(3):269-79. doi: 10.1002/humu.22942. Epub 2016 Jan 8.

PMID:
26666891
15.

The CARD11-BCL10-MALT1 (CBM) signalosome complex: Stepping into the limelight of human primary immunodeficiency.

Turvey SE, Durandy A, Fischer A, Fung SY, Geha RS, Gewies A, Giese T, Greil J, Keller B, McKinnon ML, Neven B, Rozmus J, Ruland J, Snow AL, Stepensky P, Warnatz K.

J Allergy Clin Immunol. 2014 Aug;134(2):276-84. doi: 10.1016/j.jaci.2014.06.015. Review.

16.

Power reflectance as a screening tool for the diagnosis of superior semicircular canal dehiscence.

Merchant GR, Röösli C, Niesten ME, Hamade MA, Lee DJ, McKinnon ML, Ulku CH, Rosowski JJ, Merchant SN, Nakajima HH.

Otol Neurotol. 2015 Jan;36(1):172-7. doi: 10.1097/MAO.0000000000000294.

17.

Somatic mosaicism for the p.His1047Arg mutation in PIK3CA in a girl with mesenteric lipomatosis.

Cohen AS, Townsend KN, Xiang QS, Attariwala R, Borchers C, Senger C, Picker W, Levi J, Yewchuk L, Tan J, Eydoux P, Lum A, Yong SL, McKinnon ML, Lear SA, Everett R, Jones SJ, Yip S, Gibson WT.

Am J Med Genet A. 2014 Sep;164A(9):2360-4. doi: 10.1002/ajmg.a.36622. Epub 2014 Jun 5.

18.

Combined immunodeficiency associated with homozygous MALT1 mutations.

McKinnon ML, Rozmus J, Fung SY, Hirschfeld AF, Del Bel KL, Thomas L, Marr N, Martin SD, Marwaha AK, Priatel JJ, Tan R, Senger C, Tsang A, Prendiville J, Junker AK, Seear M, Schultz KR, Sly LM, Holt RA, Patel MS, Friedman JM, Turvey SE.

J Allergy Clin Immunol. 2014 May;133(5):1458-62, 1462.e1-7. doi: 10.1016/j.jaci.2013.10.045. Epub 2013 Dec 12. No abstract available.

PMID:
24332264
19.

Evidence of inner ear contribution in bone conduction in chinchilla.

Chhan D, Röösli C, McKinnon ML, Rosowski JJ.

Hear Res. 2013 Jul;301:66-71. doi: 10.1016/j.heares.2012.11.014. Epub 2012 Dec 1.

20.

Epistatic interactions between modifier genes confer strain-specific redundancy for Tgfb1 in developmental angiogenesis.

Tang Y, Lee KS, Yang H, Logan DW, Wang S, McKinnon ML, Holt LJ, Condie A, Luu MT, Akhurst RJ.

Genomics. 2005 Jan;85(1):60-70.

PMID:
15607422
21.

Genetic modifiers interact with maternal determinants in vascular development of Tgfb1(-/-) mice.

Tang Y, McKinnon ML, Leong LM, Rusholme SA, Wang S, Akhurst RJ.

Hum Mol Genet. 2003 Jul 1;12(13):1579-89.

PMID:
12812985
22.

Staphylococcus hominis subsp. novobiosepticus subsp. nov., a novel trehalose- and N-acetyl-D-glucosamine-negative, novobiocin- and multiple-antibiotic-resistant subspecies isolated from human blood cultures.

Kloos WE, George CG, Olgiate JS, Van Pelt L, McKinnon ML, Zimmer BL, Muller E, Weinstein MP, Mirrett S.

Int J Syst Bacteriol. 1998 Jul;48 Pt 3:799-812.

PMID:
9734034
23.

Quarantine inspection of international air travelers: Idlewild Airport, New York.

McKinnon ML, Smith LC.

Public Health Rep. 1962 Jan;77(1):65-70. No abstract available.

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