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Items: 1 to 50 of 85

1.

New records of theropods from the latest Cretaceous of New Jersey and the Maastrichtian Appalachian fauna.

Brownstein CD.

R Soc Open Sci. 2019 Nov 13;6(11):191206. doi: 10.1098/rsos.191206. eCollection 2019 Nov.

2.

Methodological issues influence determination of critical force during intermittent exercise: authors' reply.

Ansdell P, Brownstein CG, Škarabot J, Hicks KM, Howatson G, Thomas K, Hunter SK, Goodall S.

J Physiol. 2019 Dec;597(24):5987-5989. doi: 10.1113/JP279085. Epub 2019 Nov 25. No abstract available.

PMID:
31763698
3.

Disparate kinetics of change in responses to electrical stimulation at the thoracic and lumbar level during fatiguing isometric knee extension.

Brownstein CG, Souron R, Royer N, Singh B, Lapole T, Millet GY.

J Appl Physiol (1985). 2020 Jan 1;128(1):159-167. doi: 10.1152/japplphysiol.00635.2019. Epub 2019 Nov 21.

PMID:
31751184
4.

Halszkaraptor escuilliei and the evolution of the paravian bauplan.

Brownstein CD.

Sci Rep. 2019 Nov 11;9(1):16455. doi: 10.1038/s41598-019-52867-2.

5.

Sex differences in fatigability and recovery relative to the intensity-duration relationship.

Ansdell P, Brownstein CG, Škarabot J, Hicks KM, Howatson G, Thomas K, Hunter SK, Goodall S.

J Physiol. 2019 Dec;597(23):5577-5595. doi: 10.1113/JP278699. Epub 2019 Oct 30.

PMID:
31529693
6.

The Effect of Phase Change Material on Recovery of Neuromuscular Function Following Competitive Soccer Match-Play.

Brownstein CG, Ansdell P, Škarabot J, McHugh MP, Howatson G, Goodall S, Thomas K.

Front Physiol. 2019 Jun 6;10:647. doi: 10.3389/fphys.2019.00647. eCollection 2019.

7.

Corticospinal excitability of tibialis anterior and soleus differs during passive ankle movement.

Škarabot J, Ansdell P, Brownstein CG, Hicks KM, Howatson G, Goodall S, Durbaba R.

Exp Brain Res. 2019 Sep;237(9):2239-2254. doi: 10.1007/s00221-019-05590-3. Epub 2019 Jun 26.

8.

A novel missense mutation in TFAP2B associated with Char syndrome and central diabetes insipidus.

Edward HL, D'Gama AM, Wojcik MH, Brownstein CA, Kenna MA, Grant PE, Majzoub JA, Agrawal PB.

Am J Med Genet A. 2019 Jul;179(7):1299-1303. doi: 10.1002/ajmg.a.61150. Epub 2019 Apr 22.

PMID:
31012281
9.

Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes.

Schmitz-Abe K, Li Q, Rosen SM, Nori N, Madden JA, Genetti CA, Wojcik MH, Ponnaluri S, Gubbels CS, Picker JD, O'Donnell-Luria AH, Yu TW, Bodamer O, Brownstein CA, Beggs AH, Agrawal PB.

Eur J Hum Genet. 2019 Sep;27(9):1398-1405. doi: 10.1038/s41431-019-0401-x. Epub 2019 Apr 12.

PMID:
30979967
10.

Menstrual cycle-associated modulations in neuromuscular function and fatigability of the knee extensors in eumenorrheic women.

Ansdell P, Brownstein CG, Škarabot J, Hicks KM, Simoes DCM, Thomas K, Howatson G, Hunter SK, Goodall S.

J Appl Physiol (1985). 2019 Jun 1;126(6):1701-1712. doi: 10.1152/japplphysiol.01041.2018. Epub 2019 Mar 7.

PMID:
30844334
11.

Myths and Methodologies: How loud is the story told by the transcranial magnetic stimulation-evoked silent period?

Škarabot J, Mesquita RNO, Brownstein CG, Ansdell P.

Exp Physiol. 2019 May;104(5):635-642. doi: 10.1113/EP087557. Epub 2019 Mar 24.

PMID:
30830992
12.

Reduced corticospinal responses in older compared with younger adults during submaximal isometric, shortening, and lengthening contractions.

Škarabot J, Ansdell P, Brownstein CG, Hicks KM, Howatson G, Goodall S, Durbaba R.

J Appl Physiol (1985). 2019 Apr 1;126(4):1015-1031. doi: 10.1152/japplphysiol.00987.2018. Epub 2019 Feb 7.

PMID:
30730812
13.

Electrical stimulation of human corticospinal axons at the level of the lumbar spinal segments.

Škarabot J, Ansdell P, Brownstein CG, Thomas K, Howatson G, Goodall S, Durbaba R.

Eur J Neurosci. 2019 May;49(10):1254-1267. doi: 10.1111/ejn.14321. Epub 2019 Jan 16.

PMID:
30589956
14.

ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosis.

Deisseroth CA, Birgmeier J, Bodle EE, Kohler JN, Matalon DR, Nazarenko Y, Genetti CA, Brownstein CA, Schmitz-Abe K, Schoch K, Cope H, Signer R; Undiagnosed Diseases Network, Martinez-Agosto JA, Shashi V, Beggs AH, Wheeler MT, Bernstein JA, Bejerano G.

Genet Med. 2019 Jul;21(7):1585-1593. doi: 10.1038/s41436-018-0381-1. Epub 2018 Dec 5.

15.

De novo variant of TRRAP in a patient with very early onset psychosis in the context of non-verbal learning disability and obsessive-compulsive disorder: a case report.

Mavros CF, Brownstein CA, Thyagrajan R, Genetti CA, Tembulkar S, Graber K, Murphy Q, Cabral K, VanNoy GE, Bainbridge M, Shi J, Agrawal PB, Beggs AH, D'Angelo E, Gonzalez-Heydrich J.

BMC Med Genet. 2018 Nov 13;19(1):197. doi: 10.1186/s12881-018-0711-9.

16.

An optimal protocol for measurement of corticospinal excitability, short intracortical inhibition and intracortical facilitation in the rectus femoris.

Brownstein CG, Ansdell P, Škarabot J, Howatson G, Goodall S, Thomas K.

J Neurol Sci. 2018 Nov 15;394:45-56. doi: 10.1016/j.jns.2018.09.001. Epub 2018 Sep 5.

PMID:
30216757
17.

De novo variant in KIF26B is associated with pontocerebellar hypoplasia with infantile spinal muscular atrophy.

Wojcik MH, Okada K, Prabhu SP, Nowakowski DW, Ramsey K, Balak C, Rangasamy S, Brownstein CA, Schmitz-Abe K, Cohen JS, Fatemi A, Shi J, Grant EP, Narayanan V, Ho HH, Agrawal PB.

Am J Med Genet A. 2018 Dec;176(12):2623-2629. doi: 10.1002/ajmg.a.40493. Epub 2018 Aug 27.

18.

Neuromuscular Fatigue and Recovery after Heavy Resistance, Jump, and Sprint Training.

Thomas K, Brownstein CG, Dent J, Parker P, Goodall S, Howatson G.

Med Sci Sports Exerc. 2018 Dec;50(12):2526-2535. doi: 10.1249/MSS.0000000000001733.

PMID:
30067591
19.

The Genetics of Sudden Infant Death Syndrome.

Brownstein CA, Poduri A, Goldstein RD, Holm IA.

In: Duncan JR, Byard RW, editors. SIDS Sudden Infant and Early Childhood Death: The Past, the Present and the Future. Adelaide (AU): University of Adelaide Press; 2018 May. Chapter 31.

20.

The Effect of Maturation on Performance During Repeated Sprints With Self-Selected Versus Standardized Recovery Intervals in Youth Footballers.

Brownstein CG, Ball D, Micklewright D, Gibson NV.

Pediatr Exerc Sci. 2018 Nov 1;30(4):500-505. doi: 10.1123/pes.2017-0240. Epub 2018 Jul 22.

PMID:
30033816
21.

Motor cortical and corticospinal function differ during an isometric squat compared with isometric knee extension.

Brownstein CG, Ansdell P, Škarabot J, Frazer A, Kidgell D, Howatson G, Goodall S, Thomas K.

Exp Physiol. 2018 Sep;103(9):1251-1263. doi: 10.1113/EP086982. Epub 2018 Aug 5.

PMID:
29928769
22.

De novo ATP1A3 and compound heterozygous NLRP3 mutations in a child with autism spectrum disorder, episodic fatigue and somnolence, and muckle-wells syndrome.

Torres A, Brownstein CA, Tembulkar SK, Graber K, Genetti C, Kleiman RJ, Sweadner KJ, Mavros C, Liu KX, Smedemark-Margulies N, Maski K, Yang E, Agrawal PB, Shi J, Beggs AH, D'Angelo E, Lincoln SH, Carroll D, Dedeoglu F, Gahl WA, Biggs CM, Swoboda KJ, Berry GT, Gonzalez-Heydrich J.

Mol Genet Metab Rep. 2018 Jun 15;16:23-29. doi: 10.1016/j.ymgmr.2018.06.001. eCollection 2018 Sep.

23.
24.

Differences in force normalising procedures during submaximal anisometric contractions.

Škarabot J, Ansdell P, Brownstein C, Howatson G, Goodall S, Durbaba R.

J Electromyogr Kinesiol. 2018 Aug;41:82-88. doi: 10.1016/j.jelekin.2018.05.009. Epub 2018 May 26.

PMID:
29857263
25.

Plain-language medical vocabulary for precision diagnosis.

Vasilevsky NA, Foster ED, Engelstad ME, Carmody L, Might M, Chambers C, Dawkins HJS, Lewis J, Della Rocca MG, Snyder M, Boerkoel CF, Rath A, Terry SF, Kent A, Searle B, Baynam G, Jones E, Gavin P, Bamshad M, Chong J, Groza T, Adams D, Resnick AC, Heath AP, Mungall C, Holm IA, Rageth K, Brownstein CA, Shefchek K, McMurry JA, Robinson PN, Köhler S, Haendel MA.

Nat Genet. 2018 Apr;50(4):474-476. doi: 10.1038/s41588-018-0096-x. No abstract available.

26.

SCN1A variants associated with sudden infant death syndrome.

Brownstein CA, Goldstein RD, Thompson CH, Haynes RL, Giles E, Sheidley B, Bainbridge M, Haas EA, Mena OJ, Lucas J, Schaber B, Holm IA, George AL, Kinney HC, Poduri AH.

Epilepsia. 2018 Apr;59(4):e56-e62. doi: 10.1111/epi.14055. Epub 2018 Mar 30.

27.
28.

Etiology and Recovery of Neuromuscular Fatigue following Competitive Soccer Match-Play.

Brownstein CG, Dent JP, Parker P, Hicks KM, Howatson G, Goodall S, Thomas K.

Front Physiol. 2017 Oct 25;8:831. doi: 10.3389/fphys.2017.00831. eCollection 2017.

29.

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

Küry S, van Woerden GM, Besnard T, Proietti Onori M, Latypova X, Towne MC, Cho MT, Prescott TE, Ploeg MA, Sanders S, Stessman HAF, Pujol A, Distel B, Robak LA, Bernstein JA, Denommé-Pichon AS, Lesca G, Sellars EA, Berg J, Carré W, Busk ØL, van Bon BWM, Waugh JL, Deardorff M, Hoganson GE, Bosanko KB, Johnson DS, Dabir T, Holla ØL, Sarkar A, Tveten K, de Bellescize J, Braathen GJ, Terhal PA, Grange DK, van Haeringen A, Lam C, Mirzaa G, Burton J, Bhoj EJ, Douglas J, Santani AB, Nesbitt AI, Helbig KL, Andrews MV, Begtrup A, Tang S, van Gassen KLI, Juusola J, Foss K, Enns GM, Moog U, Hinderhofer K, Paramasivam N, Lincoln S, Kusako BH, Lindenbaum P, Charpentier E, Nowak CB, Cherot E, Simonet T, Ruivenkamp CAL, Hahn S, Brownstein CA, Xia F, Schmitt S, Deb W, Bonneau D, Nizon M, Quinquis D, Chelly J, Rudolf G, Sanlaville D, Parent P, Gilbert-Dussardier B, Toutain A, Sutton VR, Thies J, Peart-Vissers LELM, Boisseau P, Vincent M, Grabrucker AM, Dubourg C; Undiagnosed Diseases Network, Tan WH, Verbeek NE, Granzow M, Santen GWE, Shendure J, Isidor B, Pasquier L, Redon R, Yang Y, State MW, Kleefstra T, Cogné B; GEM HUGO; Deciphering Developmental Disorders Study, Petrovski S, Retterer K, Eichler EE, Rosenfeld JA, Agrawal PB, Bézieau S, Odent S, Elgersma Y, Mercier S.

Am J Hum Genet. 2017 Nov 2;101(5):768-788. doi: 10.1016/j.ajhg.2017.10.003.

30.

Monogenic Hashimoto thyroiditis associated with a variant in the thyroglobulin (TG) gene.

Lo MS, Towne M, VanNoy GE, Brownstein CA, Lane AA, Chatila TA, Agrawal PB.

J Autoimmun. 2018 Jan;86:116-119. doi: 10.1016/j.jaut.2017.09.003. Epub 2017 Sep 21.

PMID:
28942902
31.

Homozygous EEF1A2 mutation causes dilated cardiomyopathy, failure to thrive, global developmental delay, epilepsy and early death.

Cao S, Smith LL, Padilla-Lopez SR, Guida BS, Blume E, Shi J, Morton SU, Brownstein CA, Beggs AH, Kruer MC, Agrawal PB.

Hum Mol Genet. 2017 Sep 15;26(18):3545-3552. doi: 10.1093/hmg/ddx239.

32.

Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two Individuals.

Wojcik MH, Wierenga KJ, Rodan LH, Sahai I, Ferdinandusse S, Genetti CA, Towne MC, Peake RWA, James PM, Beggs AH, Brownstein CA, Berry GT, Agrawal PB.

JIMD Rep. 2018;39:45-54. doi: 10.1007/8904_2017_45. Epub 2017 Jul 20.

33.

AIFM1 mutation presenting with fatal encephalomyopathy and mitochondrial disease in an infant.

Morton SU, Prabhu SP, Lidov HGW, Shi J, Anselm I, Brownstein CA, Bainbridge MN, Beggs AH, Vargas SO, Agrawal PB.

Cold Spring Harb Mol Case Stud. 2017 Mar;3(2):a001560. doi: 10.1101/mcs.a001560.

35.
36.

The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States.

Reddy HM, Cho KA, Lek M, Estrella E, Valkanas E, Jones MD, Mitsuhashi S, Darras BT, Amato AA, Lidov HG, Brownstein CA, Margulies DM, Yu TW, Salih MA, Kunkel LM, MacArthur DG, Kang PB.

J Hum Genet. 2017 Feb;62(2):243-252. doi: 10.1038/jhg.2016.116. Epub 2016 Oct 6.

37.

Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

Mehta P, Küspert M, Bale T, Brownstein CA, Towne MC, De Girolami U, Shi J, Beggs AH, Darras BT, Wegner M, Piao X, Agrawal PB.

Muscle Nerve. 2017 May;55(5):761-765. doi: 10.1002/mus.25416. Epub 2017 Feb 3.

38.

A novel de novo mutation in ATP1A3 and childhood-onset schizophrenia.

Smedemark-Margulies N, Brownstein CA, Vargas S, Tembulkar SK, Towne MC, Shi J, Gonzalez-Cuevas E, Liu KX, Bilguvar K, Kleiman RJ, Han MJ, Torres A, Berry GT, Yu TW, Beggs AH, Agrawal PB, Gonzalez-Heydrich J.

Cold Spring Harb Mol Case Stud. 2016 Sep;2(5):a001008. doi: 10.1101/mcs.a001008.

39.

Hippocampal Formation Maldevelopment and Sudden Unexpected Death across the Pediatric Age Spectrum.

Kinney HC, Poduri AH, Cryan JB, Haynes RL, Teot L, Sleeper LA, Holm IA, Berry GT, Prabhu SP, Warfield SK, Brownstein C, Abram HS, Kruer M, Kemp WL, Hargitai B, Gastrang J, Mena OJ, Haas EA, Dastjerdi R, Armstrong DD, Goldstein RD.

J Neuropathol Exp Neurol. 2016 Oct;75(10):981-997. Epub 2016 Sep 9.

40.

SLC6A1 Mutation and Ketogenic Diet in Epilepsy With Myoclonic-Atonic Seizures.

Palmer S, Towne MC, Pearl PL, Pelletier RC, Genetti CA, Shi J, Beggs AH, Agrawal PB, Brownstein CA.

Pediatr Neurol. 2016 Nov;64:77-79. doi: 10.1016/j.pediatrneurol.2016.07.012. Epub 2016 Jul 28.

41.

Creating a scalable clinical pharmacogenomics service with automated interpretation and medical record result integration - experience from a pediatric tertiary care facility.

Manzi SF, Fusaro VA, Chadwick L, Brownstein C, Clinton C, Mandl KD, Wolf WA, Hawkins JB.

J Am Med Inform Assoc. 2017 Jan;24(1):74-80. doi: 10.1093/jamia/ocw052. Epub 2016 Jun 14.

PMID:
27301749
42.

Overlapping 16p13.11 deletion and gain of copies variations associated with childhood onset psychosis include genes with mechanistic implications for autism associated pathways: Two case reports.

Brownstein CA, Kleiman RJ, Engle EC, Towne MC, D'Angelo EJ, Yu TW, Beggs AH, Picker J, Fogler JM, Carroll D, Schmitt RC, Wolff RR, Shen Y, Lip V, Bilguvar K, Kim A, Tembulkar S, O'Donnell K, Gonzalez-Heydrich J.

Am J Med Genet A. 2016 May;170A(5):1165-73. doi: 10.1002/ajmg.a.37595. Epub 2016 Feb 16.

43.

A Phase I First-in-Human Study of Nesvacumab (REGN910), a Fully Human Anti-Angiopoietin-2 (Ang2) Monoclonal Antibody, in Patients with Advanced Solid Tumors.

Papadopoulos KP, Kelley RK, Tolcher AW, Razak AR, Van Loon K, Patnaik A, Bedard PL, Alfaro AA, Beeram M, Adriaens L, Brownstein CM, Lowy I, Kostic A, Trail PA, Gao B, DiCioccio AT, Siu LL.

Clin Cancer Res. 2016 Mar 15;22(6):1348-55. doi: 10.1158/1078-0432.CCR-15-1221. Epub 2015 Oct 21.

44.

Clinical heterogeneity associated with KCNA1 mutations include cataplexy and nonataxic presentations.

Brownstein CA, Beggs AH, Rodan L, Shi J, Towne MC, Pelletier R, Cao S, Rosenberg PA, Urion DK, Picker J, Tan WH, Agrawal PB.

Neurogenetics. 2016 Jan;17(1):11-6. doi: 10.1007/s10048-015-0460-2. Epub 2015 Sep 22.

45.

The Matchmaker Exchange: a platform for rare disease gene discovery.

Philippakis AA, Azzariti DR, Beltran S, Brookes AJ, Brownstein CA, Brudno M, Brunner HG, Buske OJ, Carey K, Doll C, Dumitriu S, Dyke SO, den Dunnen JT, Firth HV, Gibbs RA, Girdea M, Gonzalez M, Haendel MA, Hamosh A, Holm IA, Huang L, Hurles ME, Hutton B, Krier JB, Misyura A, Mungall CJ, Paschall J, Paten B, Robinson PN, Schiettecatte F, Sobreira NL, Swaminathan GJ, Taschner PE, Terry SF, Washington NL, Züchner S, Boycott KM, Rehm HL.

Hum Mutat. 2015 Oct;36(10):915-21. doi: 10.1002/humu.22858.

46.

Data sharing in the undiagnosed diseases network.

Brownstein CA, Holm IA, Ramoni R, Goldstein DB; Members of the Undiagnosed Diseases Network.

Hum Mutat. 2015 Oct;36(10):985-8. doi: 10.1002/humu.22840. Epub 2015 Aug 27.

47.

Patients with Slowly Proliferative Early Breast Cancer Have Low Five-Year Recurrence Rates in a Phase III Adjuvant Trial of Capecitabine.

O'Shaughnessy J, Koeppen H, Xiao Y, Lackner MR, Paul D, Stokoe C, Pippen J Jr, Krekow L, Holmes FA, Vukelja S, Lindquist D, Sedlacek S, Rivera R, Brooks R, McIntyre K, Brownstein C, Hoersch S, Blum JL, Jones S.

Clin Cancer Res. 2015 Oct 1;21(19):4305-11. doi: 10.1158/1078-0432.CCR-15-0636. Epub 2015 Jun 3.

48.

Clinical management of patients with ASXL1 mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance.

Russell B, Johnston JJ, Biesecker LG, Kramer N, Pickart A, Rhead W, Tan WH, Brownstein CA, Kate Clarkson L, Dobson A, Rosenberg AZ, Vergano SA, Helm BM, Harrison RE, Graham JM Jr.

Am J Med Genet A. 2015 Sep;167A(9):2122-31. doi: 10.1002/ajmg.a.37131. Epub 2015 Apr 29.

49.

Whole exome sequencing identifies RAI1 mutation in a morbidly obese child diagnosed with ROHHAD syndrome.

Thaker VV, Esteves KM, Towne MC, Brownstein CA, James PM, Crowley L, Hirschhorn JN, Elsea SH, Beggs AH, Picker J, Agrawal PB.

J Clin Endocrinol Metab. 2015 May;100(5):1723-30. doi: 10.1210/jc.2014-4215. Epub 2015 Mar 17.

50.

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy.

Yuen M, Sandaradura SA, Dowling JJ, Kostyukova AS, Moroz N, Quinlan KG, Lehtokari VL, Ravenscroft G, Todd EJ, Ceyhan-Birsoy O, Gokhin DS, Maluenda J, Lek M, Nolent F, Pappas CT, Novak SM, D'Amico A, Malfatti E, Thomas BP, Gabriel SB, Gupta N, Daly MJ, Ilkovski B, Houweling PJ, Davidson AE, Swanson LC, Brownstein CA, Gupta VA, Medne L, Shannon P, Martin N, Bick DP, Flisberg A, Holmberg E, Van den Bergh P, Lapunzina P, Waddell LB, Sloboda DD, Bertini E, Chitayat D, Telfer WR, Laquerrière A, Gregorio CC, Ottenheijm CA, Bönnemann CG, Pelin K, Beggs AH, Hayashi YK, Romero NB, Laing NG, Nishino I, Wallgren-Pettersson C, Melki J, Fowler VM, MacArthur DG, North KN, Clarke NF.

J Clin Invest. 2015 Jan;125(1):456-7. doi: 10.1172/JCI80057. Epub 2015 Jan 2. No abstract available.

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