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Items: 1 to 50 of 733

1.

Aspartylglycosamine is a biomarker for NGLY1-CDDG, a congenital disorder of deglycosylation.

Haijes HA, de Sain-van der Velden MGM, Prinsen HCMT, Willems AP, van der Ham M, Gerrits J, Couse MH, Friedman JM, van Karnebeek CDM, Selby KA, van Hasselt PM, Verhoeven-Duif NM, Jans JJM.

Mol Genet Metab. 2019 Jul 9. pii: S1096-7192(19)30360-9. doi: 10.1016/j.ymgme.2019.07.001. [Epub ahead of print]

PMID:
31311714
2.

Regulation of Energy Expenditure by Brainstem GABA Neurons.

Schneeberger M, Parolari L, Das Banerjee T, Bhave V, Wang P, Patel B, Topilko T, Wu Z, Choi CHJ, Yu X, Pellegrino K, Engel EA, Cohen P, Renier N, Friedman JM, Nectow AR.

Cell. 2019 Jun 24. pii: S0092-8674(19)30619-1. doi: 10.1016/j.cell.2019.05.048. [Epub ahead of print]

PMID:
31257028
3.

RAPIDOMICS: rapid genome-wide sequencing in a neonatal intensive care unit-successes and challenges.

Elliott AM, du Souich C, Lehman A, Guella I, Evans DM, Candido T, Tooman L, Armstrong L, Clarke L, Gibson W, Gill H, Lavoie PM, Lewis S, McKinnon ML, Nikkel SM, Patel M, Solimano A, Synnes A, Ting J, van Allen M, Christilaw J, Farrer MJ, Friedman JM, Osiovich H.

Eur J Pediatr. 2019 Aug;178(8):1207-1218. doi: 10.1007/s00431-019-03399-4. Epub 2019 Jun 7.

PMID:
31172278
4.

Neurofibromatosis 1.

Friedman JM.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
1998 Oct 2 [updated 2019 Jun 6].

5.

Anti-biofilm activity of garlic extract loaded nanoparticles.

Girish VM, Liang H, Aguilan JT, Nosanchuk JD, Friedman JM, Nacharaju P.

Nanomedicine. 2019 May 11;20:102009. doi: 10.1016/j.nano.2019.04.012. [Epub ahead of print]

PMID:
31085344
6.

Nanoparticle-Encapsulated Doxorubicin Demonstrates Superior Tumor Cell Kill in Triple Negative Breast Cancer Subtypes Intrinsically Resistant to Doxorubicin.

Krausz AE, Adler BL, Makdisi J, Schairer D, Rosen J, Landriscina A, Navati M, Alfieri A, Friedman JM, Nosanchuk JD, Rodriguez-Gabin A, Ye KQ, McDaid HM, Friedman AJ.

Precis Nanomed. 2018 Oct;1(3):173-182. doi: 10.33218/prnano1(3).181029.1. Epub 2018 Oct 27.

7.

New developmental syndromes: Understanding the family experience.

Inglese CN, Elliott AM; CAUSES Study, Lehman A.

J Genet Couns. 2019 Apr;28(2):202-212. doi: 10.1002/jgc4.1121. Epub 2019 Apr 2.

PMID:
30938469
8.

A Role of Drd2 Hippocampal Neurons in Context-Dependent Food Intake.

Azevedo EP, Pomeranz L, Cheng J, Schneeberger M, Vaughan R, Stern SA, Tan B, Doerig K, Greengard P, Friedman JM.

Neuron. 2019 May 22;102(4):873-886.e5. doi: 10.1016/j.neuron.2019.03.011. Epub 2019 Mar 28.

PMID:
30930044
9.

Dysregulation of a long noncoding RNA reduces leptin leading to a leptin-responsive form of obesity.

Dallner OS, Marinis JM, Lu YH, Birsoy K, Werner E, Fayzikhodjaeva G, Dill BD, Molina H, Moscati A, Kutalik Z, Marques-Vidal P, Kilpeläinen TO, Grarup N, Linneberg A, Zhang Y, Vaughan R, Loos RJF, Lazar MA, Friedman JM.

Nat Med. 2019 Mar;25(3):507-516. doi: 10.1038/s41591-019-0370-1. Epub 2019 Mar 6.

PMID:
30842678
10.

United Network for Organ Sharing Rule Changes and Their Effects on Kidney and Liver Transplant Outcomes.

Tolkacz M, Friedman JM, Koizumi N, Tang L, Ortiz J.

Exp Clin Transplant. 2019 Mar 5. doi: 10.6002/ect.2018.0311. [Epub ahead of print]

11.

Mutations in ILK, encoding integrin-linked kinase, are associated with arrhythmogenic cardiomyopathy.

Brodehl A, Rezazadeh S, Williams T, Munsie NM, Liedtke D, Oh T, Ferrier R, Shen Y, Jones SJM, Stiegler AL, Boggon TJ, Duff HJ, Friedman JM, Gibson WT; FORGE Canada Consortium, Childs SJ, Gerull B.

Transl Res. 2019 Jun;208:15-29. doi: 10.1016/j.trsl.2019.02.004. Epub 2019 Feb 15.

PMID:
30802431
12.

A distinct neurodevelopmental syndrome with intellectual disability, autism spectrum disorder, characteristic facies, and macrocephaly is caused by defects in CHD8.

Yasin H, Gibson WT, Langlois S, Stowe RM, Tsang ES, Lee L, Poon J, Tran G, Tyson C, Wong CK, Marra MA, Friedman JM, Zahir FR.

J Hum Genet. 2019 Apr;64(4):271-280. doi: 10.1038/s10038-019-0561-0. Epub 2019 Jan 22.

PMID:
30670789
13.

PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights.

Johnstone DL, Al-Shekaili HH, Tarailo-Graovac M, Wolf NI, Ivy AS, Demarest S, Roussel Y, Ciapaite J, van Roermund CWT, Kernohan KD, Kosuta C, Ban K, Ito Y, McBride S, Al-Thihli K, Abdelrahim RA, Koul R, Al Futaisi A, Haaxma CA, Olson H, Sigurdardottir LY, Arnold GL, Gerkes EH, Boon M, Heiner-Fokkema MR, Noble S, Bosma M, Jans J, Koolen DA, Kamsteeg EJ, Drögemöller B, Ross CJ, Majewski J, Cho MT, Begtrup A, Wasserman WW, Bui T, Brimble E, Violante S, Houten SM, Wevers RA, van Faassen M, Kema IP, Lepage N; Care4Rare Canada Consortium, Lines MA, Dyment DA, Wanders RJA, Verhoeven-Duif N, Ekker M, Boycott KM, Friedman JM, Pena IA, van Karnebeek CDM.

Brain. 2019 Mar 1;142(3):542-559. doi: 10.1093/brain/awy346.

PMID:
30668673
14.

Neurofibromin haploinsufficiency results in altered spermatogenesis in a mouse model of neurofibromatosis type 1.

Chohan H, Esfandiarei M, Arman D, Van Raamsdonk CD, van Breemen C, Friedman JM, Jett KA.

PLoS One. 2018 Dec 20;13(12):e0208835. doi: 10.1371/journal.pone.0208835. eCollection 2018.

15.

α1- and β3-Adrenergic Receptor-Mediated Mesolimbic Homeostatic Plasticity Confers Resilience to Social Stress in Susceptible Mice.

Zhang H, Chaudhury D, Nectow AR, Friedman AK, Zhang S, Juarez B, Liu H, Pfau ML, Aleyasin H, Jiang C, Crumiller M, Calipari ES, Ku SM, Morel C, Tzavaras N, Montgomery SE, He M, Salton SR, Russo SJ, Nestler EJ, Friedman JM, Cao JL, Han MH.

Biol Psychiatry. 2019 Feb 1;85(3):226-236. doi: 10.1016/j.biopsych.2018.08.020. Epub 2018 Sep 6.

PMID:
30336931
16.

The importance of genetic counselling in genome-wide sequencing.

Elliott AM, Friedman JM.

Nat Rev Genet. 2018 Dec;19(12):735-736. doi: 10.1038/s41576-018-0057-3. Review. No abstract available.

PMID:
30283055
17.

Electromagnetic Regulation of Cell Activity.

Stanley SA, Friedman JM.

Cold Spring Harb Perspect Med. 2019 May 1;9(5). pii: a034322. doi: 10.1101/cshperspect.a034322. Review.

PMID:
30249601
18.

Assessing Shared Decision-Making Clinical Behaviors Among Genetic Counsellors.

Birch PH, Adam S, Coe RR, Port AV, Vortel M, Friedman JM, Légaré F.

J Genet Couns. 2018 Aug 14. doi: 10.1007/s10897-018-0285-x. [Epub ahead of print]

PMID:
30109450
19.

Nitric oxide-releasing microparticles as a potent antimicrobial therapeutic against chronic rhinosinusitis bacterial isolates.

Abuzeid WM, Girish VM, Fastenberg JH, Draganski AR, Lee AY, Nosanchuk JD, Friedman JM.

Int Forum Allergy Rhinol. 2018 Oct;8(10):1190-1198. doi: 10.1002/alr.22185. Epub 2018 Jul 25.

PMID:
30044542
20.

Assessing an Interactive Online Tool to Support Parents' Genomic Testing Decisions.

Adam S, Birch PH, Coe RR, Bansback N, Jones AL, Connolly MB, Demos MK, Toyota EB, Farrer MJ, Friedman JM.

J Genet Couns. 2018 Jul 23. doi: 10.1007/s10897-018-0281-1. [Epub ahead of print]

PMID:
30033481
21.

Nitric Oxide Releasing Nanoparticles as a Strategy to Improve Current Onychomycosis Treatments.

Costa-Orlandi CB, Mordorski B, Baltazar LM, Mendes-Giannini MJS, Friedman JM, Nosanchuk JD, Friedman AJ.

J Drugs Dermatol. 2018 Jul 1;17(7):717-720.

PMID:
30005092
22.

Molecular profiling of reticular gigantocellularis neurons indicates that eNOS modulates environmentally dependent levels of arousal.

Tabansky I, Liang Y, Frankfurt M, Daniels MA, Harrigan M, Stern S, Milner TA, Leshan R, Rama R, Moll T, Friedman JM, Stern JNH, Pfaff DW.

Proc Natl Acad Sci U S A. 2018 Jul 17;115(29):E6900-E6909. doi: 10.1073/pnas.1806123115. Epub 2018 Jul 2.

23.

Genome-wide sequencing in acutely ill infants: genomic medicine's critical application?

Friedman JM, Bombard Y, Cornel MC, Fernandez CV, Junker AK, Plon SE, Stark Z, Knoppers BM; Paediatric Task Team of the Global Alliance for Genomics and Health Regulatory and Ethics Work Stream.

Genet Med. 2019 Feb;21(2):498-504. doi: 10.1038/s41436-018-0055-z. Epub 2018 Jun 12.

PMID:
29895853
24.

A noncanonical PPARγ/RXRα-binding sequence regulates leptin expression in response to changes in adipose tissue mass.

Zhang Y, Dallner OS, Nakadai T, Fayzikhodjaeva G, Lu YH, Lazar MA, Roeder RG, Friedman JM.

Proc Natl Acad Sci U S A. 2018 Jun 26;115(26):E6039-E6047. doi: 10.1073/pnas.1806366115. Epub 2018 Jun 11.

25.

Control of non-homeostatic feeding in sated mice using associative learning of contextual food cues.

Stern SA, Doerig KR, Azevedo EP, Stoffel E, Friedman JM.

Mol Psychiatry. 2018 Jun 6. doi: 10.1038/s41380-018-0072-y. [Epub ahead of print]

26.

The Genomic Consultation Service: A clinical service designed to improve patient selection for genome-wide sequencing in British Columbia.

Elliott AM, du Souich C, Adam S, Dragojlovic N, van Karnebeek C, Nelson TN, Lehman A; CAUSES Study, Lynd LD, Friedman JM.

Mol Genet Genomic Med. 2018 May 30. doi: 10.1002/mgg3.410. [Epub ahead of print]

27.

Functional analysis reveals differential effects of glutamate and MCH neuropeptide in MCH neurons.

Schneeberger M, Tan K, Nectow AR, Parolari L, Caglar C, Azevedo E, Li Z, Domingos A, Friedman JM.

Mol Metab. 2018 Jul;13:83-89. doi: 10.1016/j.molmet.2018.05.001. Epub 2018 May 8.

28.

Molecular and cellular characterization of nicotinic acetylcholine receptor subtypes in the arcuate nucleus of the mouse hypothalamus.

Calarco CA, Li Z, Taylor SR, Lee S, Zhou W, Friedman JM, Mineur YS, Gotti C, Picciotto MR.

Eur J Neurosci. 2018 May 23. doi: 10.1111/ejn.13966. [Epub ahead of print]

PMID:
29791746
29.

Topically Applied Curcumin-Loaded Nanoparticles Treat Erectile Dysfunction in a Rat Model of Type-2 Diabetes.

Draganski A, Tar MT, Villegas G, Friedman JM, Davies KP.

J Sex Med. 2018 May;15(5):645-653. doi: 10.1016/j.jsxm.2018.03.009.

PMID:
29699754
30.

Serial MRIs provide novel insight into natural history of optic pathway gliomas in patients with neurofibromatosis 1.

Sellmer L, Farschtschi S, Marangoni M, Heran MKS, Birch P, Wenzel R, Mautner VF, Friedman JM.

Orphanet J Rare Dis. 2018 Apr 23;13(1):62. doi: 10.1186/s13023-018-0811-9.

31.

Evaluating the use of parental reports to estimate health care resource utilization in children with suspected genetic disorders.

Dragojlovic N, Kim E, Elliott AM; CAUSES Study, Friedman JM, Lynd LD.

J Eval Clin Pract. 2018 Apr;24(2):416-422. doi: 10.1111/jep.12876.

PMID:
29603523
32.

Key Implications of Data Sharing in Pediatric Genomics.

Rahimzadeh V, Schickhardt C, Knoppers BM, Sénécal K, Vears DF, Fernandez CV, Pfister S, Plon S, Terry S, Williams J, Williams MS, Cornel M, Friedman JM.

JAMA Pediatr. 2018 May 1;172(5):476-481. doi: 10.1001/jamapediatrics.2017.5500.

PMID:
29554172
33.

Oxidized Mutant Human Hemoglobins S and E Induce Oxidative Stress and Bioenergetic Dysfunction in Human Pulmonary Endothelial Cells.

Jana S, Meng F, Hirsch RE, Friedman JM, Alayash AI.

Front Physiol. 2017 Dec 19;8:1082. doi: 10.3389/fphys.2017.01082. eCollection 2017.

34.

The cost and diagnostic yield of exome sequencing for children with suspected genetic disorders: a benchmarking study.

Dragojlovic N, Elliott AM, Adam S, van Karnebeek C, Lehman A, Mwenifumbo JC, Nelson TN, du Souich C, Friedman JM, Lynd LD.

Genet Med. 2018 Sep;20(9):1013-1021. doi: 10.1038/gim.2017.226. Epub 2018 Jan 4. Review.

PMID:
29300375
35.

Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders.

Faundes V, Newman WG, Bernardini L, Canham N, Clayton-Smith J, Dallapiccola B, Davies SJ, Demos MK, Goldman A, Gill H, Horton R, Kerr B, Kumar D, Lehman A, McKee S, Morton J, Parker MJ, Rankin J, Robertson L, Temple IK; Clinical Assessment of the Utility of Sequencing and Evaluation as a Service (CAUSES) Study; Deciphering Developmental Disorders (DDD) Study, Banka S.

Am J Hum Genet. 2018 Jan 4;102(1):175-187. doi: 10.1016/j.ajhg.2017.11.013. Epub 2017 Dec 21.

36.

Population genomic analysis suggests strong influence of river network on spatial distribution of genetic variation in invasive saltcedar across the southwestern United States.

Lee SR, Jo YS, Park CH, Friedman JM, Olson MS.

Mol Ecol. 2018 Feb;27(3):636-646. doi: 10.1111/mec.14468. Epub 2018 Jan 22.

PMID:
29274176
37.

ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder.

Cuvertino S, Stuart HM, Chandler KE, Roberts NA, Armstrong R, Bernardini L, Bhaskar S, Callewaert B, Clayton-Smith J, Davalillo CH, Deshpande C, Devriendt K, Digilio MC, Dixit A, Edwards M, Friedman JM, Gonzalez-Meneses A, Joss S, Kerr B, Lampe AK, Langlois S, Lennon R, Loget P, Ma DYT, McGowan R, Des Medt M, O'Sullivan J, Odent S, Parker MJ, Pebrel-Richard C, Petit F, Stark Z, Stockler-Ipsiroglu S, Tinschert S, Vasudevan P, Villa O, White SM, Zahir FR; DDD Study, Woolf AS, Banka S.

Am J Hum Genet. 2017 Dec 7;101(6):1021-1033. doi: 10.1016/j.ajhg.2017.11.006.

38.

Editorial In Bed with The Devil: Recognizing Human Teratogenic Exposures.

Friedman JM.

Birth Defects Res. 2017 Nov 1;109(18):1407-1413. doi: 10.1002/bdr2.1134. No abstract available.

PMID:
29152923
39.

Controversy and debate on clinical genomics sequencing-paper 4: clinical genome-wide sequencing: response to Wilson, Miller, and Rousseau.

Adam S, Friedman JM.

J Clin Epidemiol. 2017 Dec;92:13-15. doi: 10.1016/j.jclinepi.2017.09.019. Epub 2017 Sep 23. No abstract available.

PMID:
28951108
40.

Controversy and debate on clinical genomics sequencing-paper 2: clinical genome-wide sequencing: don't throw out the baby with the bathwater!

Adam S, Friedman JM.

J Clin Epidemiol. 2017 Dec;92:7-10. doi: 10.1016/j.jclinepi.2017.08.020. Epub 2017 Sep 12. Review.

PMID:
28916491
41.

Compound heterozygous TRPV4 mutations in two siblings with a complex phenotype including severe intellectual disability and neuropathy.

Thibodeau ML, Peters CH, Townsend KN, Shen Y, Hendson G, Adam S, Selby K, Macleod PM, Gershome C, Ruben P, Jones SJM; FORGE Canada Consortium, Friedman JM, Gibson WT, Horvath GA.

Am J Med Genet A. 2017 Nov;173(11):3087-3092. doi: 10.1002/ajmg.a.38400. Epub 2017 Sep 12.

PMID:
28898540
42.

Nanoparticle Delivery of Fidgetin siRNA as a Microtubule-based Therapy to Augment Nerve Regeneration.

Austin TO, Matamoros AJ, Friedman JM, Friedman AJ, Nacharaju P, Yu W, Sharp DJ, Baas PW.

Sci Rep. 2017 Aug 29;7(1):9675. doi: 10.1038/s41598-017-10250-z.

43.

Benign heart murmurs as a predictor for complications following total joint arthroplasty.

Friedman JM, Couso R, Kitchens M, Vakhshori V, Hillin CD, Wu CH, Steere J, Ahn J, Hume E.

J Orthop. 2017 Aug 1;14(4):470-474. doi: 10.1016/j.jor.2017.07.009. eCollection 2017 Dec.

44.

Identification of a Brainstem Circuit Controlling Feeding.

Nectow AR, Schneeberger M, Zhang H, Field BC, Renier N, Azevedo E, Patel B, Liang Y, Mitra S, Tessier-Lavigne M, Han MH, Friedman JM.

Cell. 2017 Jul 27;170(3):429-442.e11. doi: 10.1016/j.cell.2017.06.045.

45.

Topical nitric oxide releasing nanoparticles are effective in a murine model of dermal Trichophyton rubrum dermatophytosis.

Mordorski B, Costa-Orlandi CB, Baltazar LM, Carreño LJ, Landriscina A, Rosen J, Navati M, Mendes-Giannini MJS, Friedman JM, Nosanchuk JD, Friedman AJ.

Nanomedicine. 2017 Oct;13(7):2267-2270. doi: 10.1016/j.nano.2017.06.018. Epub 2017 Jul 13.

PMID:
28712918
46.

Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy.

Lehman A, Thouta S, Mancini GMS, Naidu S, van Slegtenhorst M, McWalter K, Person R, Mwenifumbo J, Salvarinova R; CAUSES Study; EPGEN Study, Guella I, McKenzie MB, Datta A, Connolly MB, Kalkhoran SM, Poburko D, Friedman JM, Farrer MJ, Demos M, Desai S, Claydon T.

Am J Hum Genet. 2017 Jul 6;101(1):65-74. doi: 10.1016/j.ajhg.2017.05.016. Epub 2017 Jun 29.

47.

Comprehensive whole genome sequence analyses yields novel genetic and structural insights for Intellectual Disability.

Zahir FR, Mwenifumbo JC, Chun HE, Lim EL, Van Karnebeek CDM, Couse M, Mungall KL, Lee L, Makela N, Armstrong L, Boerkoel CF, Langlois SL, McGillivray BM, Jones SJM, Friedman JM, Marra MA.

BMC Genomics. 2017 May 24;18(1):403. doi: 10.1186/s12864-017-3671-0.

48.

Rapid Molecular Profiling of Defined Cell Types Using Viral TRAP.

Nectow AR, Moya MV, Ekstrand MI, Mousa A, McGuire KL, Sferrazza CE, Field BC, Rabinowitz GS, Sawicka K, Liang Y, Friedman JM, Heintz N, Schmidt EF.

Cell Rep. 2017 Apr 18;19(3):655-667. doi: 10.1016/j.celrep.2017.03.048.

49.

A retinaculum-sparing surgical approach preserves porcine stifle joint cartilage in an experimental animal model of cartilage repair.

Bonadio MB, Friedman JM, Sennett ML, Mauck RL, Dodge GR, Madry H.

J Exp Orthop. 2017 Dec;4(1):11. doi: 10.1186/s40634-017-0083-7. Epub 2017 Apr 17.

50.

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

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