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Items: 1 to 50 of 790

1.

Germline selection shapes human mitochondrial DNA diversity.

Wei W, Tuna S, Keogh MJ, Smith KR, Aitman TJ, Beales PL, Bennett DL, Gale DP, Bitner-Glindzicz MAK, Black GC, Brennan P, Elliott P, Flinter FA, Floto RA, Houlden H, Irving M, Koziell A, Maher ER, Markus HS, Morrell NW, Newman WG, Roberts I, Sayer JA, Smith KGC, Taylor JC, Watkins H, Webster AR, Wilkie AOM, Williamson C; NIHR BioResource–Rare Diseases; 100,000 Genomes Project–Rare Diseases Pilot, Ashford S, Penkett CJ, Stirrups KE, Rendon A, Ouwehand WH, Bradley JR, Raymond FL, Caulfield M, Turro E, Chinnery PF.

Science. 2019 May 24;364(6442). pii: eaau6520. doi: 10.1126/science.aau6520. Epub 2019 May 23.

PMID:
31123110
2.

MethylCal: Bayesian calibration of methylation levels.

Ochoa E, Zuber V, Fernandez-Jimenez N, Bilbao JR, Clark GR, Maher ER, Bottolo L.

Nucleic Acids Res. 2019 May 3. pii: gkz325. doi: 10.1093/nar/gkz325. [Epub ahead of print]

PMID:
31049595
3.

Genome-Wide Analysis of Glioblastoma Patients with Unexpectedly Long Survival.

Richardson TE, Patel S, Serrano J, Sathe AA, Daoud EV, Oliver D, Maher EA, Madrigales A, Mickey BE, Taxter T, Jour G, White CL, Raisanen JM, Xing C, Snuderl M, Hatanpaa KJ.

J Neuropathol Exp Neurol. 2019 Jun 1;78(6):501-507. doi: 10.1093/jnen/nlz025.

PMID:
31034050
4.

Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.

Gorman KM, Meyer E, Grozeva D, Spinelli E, McTague A, Sanchis-Juan A, Carss KJ, Bryant E, Reich A, Schneider AL, Pressler RM, Simpson MA, Debelle GD, Wassmer E, Morton J, Sieciechowicz D, Jan-Kamsteeg E, Paciorkowski AR, King MD, Cross JH, Poduri A, Mefford HC, Scheffer IE, Haack TB, McCullagh G; Deciphering Developmental Disorders Study; UK10K Consortium; NIHR BioResource, Millichap JJ, Carvill GL, Clayton-Smith J, Maher ER, Raymond FL, Kurian MA.

Am J Hum Genet. 2019 May 2;104(5):948-956. doi: 10.1016/j.ajhg.2019.03.005. Epub 2019 Apr 11.

PMID:
30982612
5.

Translating in vivo metabolomic analysis of succinate dehydrogenase deficient tumours into clinical utility.

Casey RT, McLean MA, Madhu B, Challis BG, Ten Hoopen R, Roberts T, Clark GR, Pittfield D, Simpson HL, Bulusu VR, Allinson K, Happerfield L, Park SM, Marker A, Giger O, Maher ER, Gallagher FA.

JCO Precis Oncol. 2018 Mar 29;2:1-12. doi: 10.1200/PO.17.00191.

6.

Discrepant molecular and clinical diagnoses in Beckwith-Wiedemann and Silver-Russell syndromes.

Mackay DJG, Bliek J, Lombardi MP, Russo S, Calzari L, Guzzetti S, Izzi C, Selicorni A, Melis D, Temple K, Maher E, Brioude F, Netchine I, Eggermann T.

Genet Res (Camb). 2019 Mar 4;101:e3. doi: 10.1017/S001667231900003X.

PMID:
30829192
7.

OTULIN deficiency in ORAS causes cell type-specific LUBAC degradation, dysregulated TNF signalling and cell death.

Damgaard RB, Elliott PR, Swatek KN, Maher ER, Stepensky P, Elpeleg O, Komander D, Berkun Y.

EMBO Mol Med. 2019 Mar;11(3). pii: e9324. doi: 10.15252/emmm.201809324.

8.

Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study.

Lord J, McMullan DJ, Eberhardt RY, Rinck G, Hamilton SJ, Quinlan-Jones E, Prigmore E, Keelagher R, Best SK, Carey GK, Mellis R, Robart S, Berry IR, Chandler KE, Cilliers D, Cresswell L, Edwards SL, Gardiner C, Henderson A, Holden ST, Homfray T, Lester T, Lewis RA, Newbury-Ecob R, Prescott K, Quarrell OW, Ramsden SC, Roberts E, Tapon D, Tooley MJ, Vasudevan PC, Weber AP, Wellesley DG, Westwood P, White H, Parker M, Williams D, Jenkins L, Scott RH, Kilby MD, Chitty LS, Hurles ME, Maher ER; Prenatal Assessment of Genomes and Exomes Consortium.

Lancet. 2019 Feb 23;393(10173):747-757. doi: 10.1016/S0140-6736(18)31940-8. Epub 2019 Jan 31.

9.

Genomic imprinting disorders: lessons on how genome, epigenome and environment interact.

Monk D, Mackay DJG, Eggermann T, Maher ER, Riccio A.

Nat Rev Genet. 2019 Apr;20(4):235-248. doi: 10.1038/s41576-018-0092-0. Review.

PMID:
30647469
10.

A Dosimetry Study of Portable X-ray Fluorescence in Vivo Metal Measurements.

Specht AJ, Zhang X, Goodman BD, Maher E, Weisskopf MG, Nie LH.

Health Phys. 2019 May;116(5):590-598. doi: 10.1097/HP.0000000000000971.

PMID:
30624351
11.

Clinical Practice Guidance: Surveillance for phaeochromocytoma and paraganglioma in paediatric succinate dehydrogenase gene mutation carriers.

Wong MY, Andrews KA, Challis BG, Park SM, Acerini CL, Maher ER, Casey RT.

Clin Endocrinol (Oxf). 2019 Apr;90(4):499-505. doi: 10.1111/cen.13926. Epub 2019 Jan 29. Review.

PMID:
30589099
12.

Electrophysiological Assessment of the Impact of Mobile Phone Radiation on Cognition in Persons With Epilepsy.

Elsawy N, Elkholy S, Azmy R, Maher EA, Shamloul R.

J Clin Neurophysiol. 2019 Mar;36(2):112-118. doi: 10.1097/WNP.0000000000000545.

PMID:
30507655
13.

Publisher's Note: Identification of Nuclear Effects in Neutrino-Carbon Interactions at Low Three-Momentum Transfer [Phys. Rev. Lett. 116, 071802 (2016)].

Rodrigues PA, Demgen J, Miltenberger E, Aliaga L, Altinok O, Bellantoni L, Bercellie A, Betancourt M, Bodek A, Bravar A, Budd H, Cai T, Carneiro MF, Chvojka J, Devan J, Dytman SA, Díaz GA, Eberly B, Elkins M, Felix J, Fields L, Fine R, Gago AM, Galindo R, Gallagher H, Ghosh A, Golan T, Gran R, Harris DA, Higuera A, Hurtado K, Kiveni M, Kleykamp J, Kordosky M, Le T, Leistico JR, Lovlein A, Maher E, Manly S, Mann WA, Marshall CM, Martinez Caicedo DA, McFarland KS, McGivern CL, McGowan AM, Messerly B, Miller J, Mislivec A, Morfín JG, Mousseau J, Muhlbeier T, Naples D, Nelson JK, Norrick A, Nuruzzaman, Osta J, Paolone V, Patrick CE, Perdue GN, Ramirez MA, Ransome RD, Ray H, Ren L, Rimal D, Ruterbories D, Schellman H, Schmitz DW, Solano Salinas CJ, Tagg N, Tice BG, Valencia E, Walton T, Wolcott J, Wospakrik M, Zavala G, Zhang D; MINERvA Collaboration.

Phys Rev Lett. 2018 Nov 16;121(20):209902. doi: 10.1103/PhysRevLett.121.209902.

PMID:
30500228
14.

From micro to macro-contaminants: The impact of low-energy titanium dioxide photocatalysis followed by filtration on the mitigation of drinking water organics.

Mayer BK, Johnson C, Yang Y, Wellenstein N, Maher E, McNamara PJ.

Chemosphere. 2019 Feb;217:111-121. doi: 10.1016/j.chemosphere.2018.10.213. Epub 2018 Nov 1.

PMID:
30414543
15.

Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism.

Cangul H, Liao XH, Schoenmakers E, Kero J, Barone S, Srichomkwun P, Iwayama H, Serra EG, Saglam H, Eren E, Tarim O, Nicholas AK, Zvetkova I, Anderson CA, Frankl FEK, Boelaert K, Ojaniemi M, Jääskeläinen J, Patyra K, Löf C, Williams ED; UK10K Consortium, Soleimani M, Barrett T, Maher ER, Chatterjee VK, Refetoff S, Schoenmakers N.

JCI Insight. 2018 Oct 18;3(20). pii: 99631. doi: 10.1172/jci.insight.99631.

16.

Molecular autopsy by trio exome sequencing (ES) and postmortem examination in fetuses and neonates with prenatally identified structural anomalies.

Quinlan-Jones E, Lord J, Williams D, Hamilton S, Marton T, Eberhardt RY, Rinck G, Prigmore E, Keelagher R, McMullan DJ, Maher ER, Hurles ME, Kilby MD.

Genet Med. 2019 May;21(5):1065-1073. doi: 10.1038/s41436-018-0298-8. Epub 2018 Oct 8.

PMID:
30293990
17.

3D high-resolution imaging of 2-hydroxyglutarate in glioma patients using DRAG-EPSI at 3T in vivo.

An Z, Tiwari V, Baxter J, Levy M, Hatanpaa KJ, Pan E, Maher EA, Patel TR, Mickey BE, Choi C.

Magn Reson Med. 2019 Feb;81(2):795-802. doi: 10.1002/mrm.27482. Epub 2018 Sep 14.

PMID:
30277274
18.

Rapid disease progression in a patient with mismatch repair-deficient and cortisol secreting adrenocortical carcinoma treated with pembrolizumab.

Casey RT, Giger O, Seetho I, Marker A, Pitfield D, Boyle LH, Gurnell M, Shaw A, Tischkowitz M, Maher ER, Chatterjee VK, Janowitz T, Mells G, Corrie P, Challis BG.

Semin Oncol. 2018 Jun;45(3):151-155. doi: 10.1053/j.seminoncol.2018.06.001. Epub 2018 Jun 21.

19.

Bayesian approach to determining penetrance of pathogenic SDH variants.

Benn DE, Zhu Y, Andrews KA, Wilding M, Duncan EL, Dwight T, Tothill RW, Burgess J, Crook A, Gill AJ, Hicks RJ, Kim E, Luxford C, Marfan H, Richardson AL, Robinson B, Schlosberg A, Susman R, Tacon L, Trainer A, Tucker K, Maher ER, Field M, Clifton-Bligh RJ.

J Med Genet. 2018 Nov;55(11):729-734. doi: 10.1136/jmedgenet-2018-105427. Epub 2018 Sep 10.

20.

Isotope Tracing of Human Clear Cell Renal Cell Carcinomas Demonstrates Suppressed Glucose Oxidation In Vivo.

Courtney KD, Bezwada D, Mashimo T, Pichumani K, Vemireddy V, Funk AM, Wimberly J, McNeil SS, Kapur P, Lotan Y, Margulis V, Cadeddu JA, Pedrosa I, DeBerardinis RJ, Malloy CR, Bachoo RM, Maher EA.

Cell Metab. 2018 Nov 6;28(5):793-800.e2. doi: 10.1016/j.cmet.2018.07.020. Epub 2018 Aug 23.

PMID:
30146487
21.

Measurement of Final-State Correlations in Neutrino Muon-Proton Mesonless Production on Hydrocarbon at ⟨E_{ν}⟩=3  GeV.

Lu XG, Betancourt M, Walton T, Akbar F, Aliaga L, Altinok O, Andrade DA, Ascencio M, Bellantoni L, Bercellie A, Bodek A, Bravar A, Budd H, Cai T, Carneiro MF, Chaves J, Coplowe D, da Motta H, Dytman SA, Díaz GA, Felix J, Fields L, Fine R, Gago AM, Galindo R, Gallagher H, Ghosh A, Gran R, Harris DA, Henry S, Jena S, Jena D, Kleykamp J, Kordosky M, Le T, Maher E, Manly S, Mann WA, Marshall CM, McFarland KS, McGowan AM, Messerly B, Miller J, Mislivec A, Morfín JG, Mousseau J, Naples D, Nelson JK, Nguyen C, Norrick A, Nuruzzaman, Olivier A, Paolone V, Patrick CE, Perdue GN, Ramírez MA, Ransome RD, Ren L, Rimal D, Rodrigues PA, Ruterbories D, Schellman H, Sobczyk JT, Salinas CJS, Su H, Sultana M, Valencia E, Wark D, Weber A, Wolcott J, Wospakrik M, Yaeggy B; MINERvA Collaboration.

Phys Rev Lett. 2018 Jul 13;121(2):022504. doi: 10.1103/PhysRevLett.121.022504.

PMID:
30085714
22.

Ammonia vs. Lactic Acid in Predicting Positivity of Microbial Culture in Sepsis: The ALPS Pilot Study.

Numan Y, Jawaid Y, Hirzallah H, Kusmic D, Megri M, Aqtash O, Amro A, Mezughi H, Maher E, Raru Y, Numan J, Akpanudo S, Khitan Z, Shweihat Y.

J Clin Med. 2018 Jul 26;7(8). pii: E182. doi: 10.3390/jcm7080182.

23.

Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes.

Whitworth J, Smith PS, Martin JE, West H, Luchetti A, Rodger F, Clark G, Carss K, Stephens J, Stirrups K, Penkett C, Mapeta R, Ashford S, Megy K, Shakeel H, Ahmed M, Adlard J, Barwell J, Brewer C, Casey RT, Armstrong R, Cole T, Evans DG, Fostira F, Greenhalgh L, Hanson H, Henderson A, Hoffman J, Izatt L, Kumar A, Kwong A, Lalloo F, Ong KR, Paterson J, Park SM, Chen-Shtoyerman R, Searle C, Side L, Skytte AB, Snape K, Woodward ER; NIHR BioResource Rare Diseases Consortium, Tischkowitz MD, Maher ER.

Am J Hum Genet. 2018 Jul 5;103(1):3-18. doi: 10.1016/j.ajhg.2018.04.013. Epub 2018 Jun 14.

24.

Antineutrino Charged-Current Reactions on Hydrocarbon with Low Momentum Transfer.

Gran R, Betancourt M, Elkins M, Rodrigues PA, Akbar F, Aliaga L, Andrade DA, Bashyal A, Bellantoni L, Bercellie A, Bodek A, Bravar A, Budd H, Vera GFRC, Cai T, Carneiro MF, Coplowe D, da Motta H, Dytman SA, Díaz GA, Felix J, Fields L, Fine R, Gallagher H, Ghosh A, Haider H, Han JY, Harris DA, Henry S, Jena D, Kleykamp J, Kordosky M, Le T, Leistico JR, Lovlein A, Lu XG, Maher E, Manly S, Mann WA, Marshall CM, McFarland KS, McGowan AM, Messerly B, Miller J, Mislivec A, Morfín JG, Mousseau J, Naples D, Nelson JK, Nguyen C, Norrick A, Nuruzzaman, Olivier A, Paolone V, Patrick CE, Perdue GN, Ramírez MA, Ransome RD, Ray H, Ren L, Rimal D, Ruterbories D, Schellman H, Salinas CJS, Su H, Sultana M, Falero SS, Valencia E, Wolcott J, Wospakrik M, Yaeggy B; MINERvA Collaboration.

Phys Rev Lett. 2018 Jun 1;120(22):221805. doi: 10.1103/PhysRevLett.120.221805.

PMID:
29906174
25.

A snapshot of lipid levels in the Republic of Ireland in 2017.

Agar R, Markham C, Prendergast M, Canning R, Maher E, Finn C, Sammon N, Fall S, Fallon N, Hanrahan E, King L, Maher V.

Ir J Med Sci. 2019 Feb;188(1):241-247. doi: 10.1007/s11845-018-1820-3. Epub 2018 Jun 1.

PMID:
29858796
26.

A quick and simple benchtop vortex egg-disruption approach for the molecular diagnosis of Fasciola hepatica from ruminant faecal samples.

Calvani NED, Cheng T, Green C, Hughes P, Kwan E, Maher E, Bush RD, Šlapeta J.

Parasitol Res. 2018 Aug;117(8):2685-2688. doi: 10.1007/s00436-018-5926-3. Epub 2018 May 22.

PMID:
29785618
27.

Hereditary renal cell carcinoma syndromes: diagnosis, surveillance and management.

Maher ER.

World J Urol. 2018 Dec;36(12):1891-1898. doi: 10.1007/s00345-018-2288-5. Epub 2018 Apr 21. Review.

28.

Penetrance estimates for BRCA1, BRCA2 (also applied to Lynch syndrome) based on presymptomatic testing: a new unbiased method to assess risk?

Evans DG, Woodward E, Harkness EF, Howell A, Plaskocinska I, Maher ER, Tischkowitz MD, Lalloo F.

J Med Genet. 2018 Jul;55(7):442-448. doi: 10.1136/jmedgenet-2017-105223. Epub 2018 Feb 26.

PMID:
29483236
29.

Revisiting Wilms tumour surveillance in Beckwith-Wiedemann syndrome with IC2 methylation loss, reply.

Brioude F, Hennekam R, Bliek J, Coze C, Eggermann T, Ferrero GB, Kratz C, Bouc YL, Maas SM, Mackay DJG, Maher ER, Mussa A, Netchine I.

Eur J Hum Genet. 2018 Apr;26(4):471-472. doi: 10.1038/s41431-017-0074-2. Epub 2018 Feb 15. No abstract available.

30.

Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD.

Andrews KA, Ascher DB, Pires DEV, Barnes DR, Vialard L, Casey RT, Bradshaw N, Adlard J, Aylwin S, Brennan P, Brewer C, Cole T, Cook JA, Davidson R, Donaldson A, Fryer A, Greenhalgh L, Hodgson SV, Irving R, Lalloo F, McConachie M, McConnell VPM, Morrison PJ, Murday V, Park SM, Simpson HL, Snape K, Stewart S, Tomkins SE, Wallis Y, Izatt L, Goudie D, Lindsay RS, Perry CG, Woodward ER, Antoniou AC, Maher ER.

J Med Genet. 2018 Jun;55(6):384-394. doi: 10.1136/jmedgenet-2017-105127. Epub 2018 Jan 31. Erratum in: J Med Genet. 2019 Jan;56(1):50-52.

31.

Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement.

Brioude F, Kalish JM, Mussa A, Foster AC, Bliek J, Ferrero GB, Boonen SE, Cole T, Baker R, Bertoletti M, Cocchi G, Coze C, De Pellegrin M, Hussain K, Ibrahim A, Kilby MD, Krajewska-Walasek M, Kratz CP, Ladusans EJ, Lapunzina P, Le Bouc Y, Maas SM, Macdonald F, Õunap K, Peruzzi L, Rossignol S, Russo S, Shipster C, Skórka A, Tatton-Brown K, Tenorio J, Tortora C, Grønskov K, Netchine I, Hennekam RC, Prawitt D, Tümer Z, Eggermann T, Mackay DJG, Riccio A, Maher ER.

Nat Rev Endocrinol. 2018 Apr;14(4):229-249. doi: 10.1038/nrendo.2017.166. Epub 2018 Jan 29. Review.

32.

Presynaptic GABAA Receptors Modulate Thalamocortical Inputs in Layer 4 of Rat V1.

Wang L, Kloc M, Maher E, Erisir A, Maffei A.

Cereb Cortex. 2019 Mar 1;29(3):921-936. doi: 10.1093/cercor/bhx364.

PMID:
29373653
33.

In a Genomic Era, Placental Pathology Still Holds the Key in the Nondysmorphic Stillbirth.

Campbell J, Armstrong K, Palaniappan N, Maher E, Glancy M, Porteous M, Mckenzie KJ, Evans MJ.

Pediatr Dev Pathol. 2018 May-Jun;21(3):308-318. doi: 10.1177/1093526617733373. Epub 2017 Oct 9.

PMID:
28990860
34.

Clinical and Molecular Features of Renal and Pheochromocytoma/Paraganglioma Tumor Association Syndrome (RAPTAS): Case Series and Literature Review.

Casey RT, Warren AY, Martin JE, Challis BG, Rattenberry E, Whitworth J, Andrews KA, Roberts T, Clark GR, West H, Smith PS, Docquier FM, Rodger F, Murray V, Simpson HL, Wallis Y, Giger O, Tran M, Tomkins S, Stewart GD, Park SM, Woodward ER, Maher ER.

J Clin Endocrinol Metab. 2017 Nov 1;102(11):4013-4022. doi: 10.1210/jc.2017-00562. Review.

35.

Measurement of 13 C turnover into glutamate and glutamine pools in brain tumor patients.

Pichumani K, Mashimo T, Vemireddy V, Ijare OB, Mickey BE, Malloy CR, Marin-Valencia I, Baskin DS, Bachoo RM, Maher EA.

FEBS Lett. 2017 Nov;591(21):3548-3554. doi: 10.1002/1873-3468.12867. Epub 2017 Oct 27.

36.

Direct Measurement of Nuclear Dependence of Charged Current Quasielasticlike Neutrino Interactions Using MINERvA.

Betancourt M, Ghosh A, Walton T, Altinok O, Bellantoni L, Bercellie A, Bodek A, Bravar A, Cai T, Martinez Caicedo DA, Carneiro MF, Dytman SA, Díaz GA, Felix J, Fields L, Fine R, Galindo R, Gallagher H, Ghosh A, Golan T, Gran R, Harris DA, Higuera A, Hurtado K, Kiveni M, Kleykamp J, Le T, Maher E, Manly S, Mann WA, Marshall CM, McFarland KS, McGivern CL, McGowan AM, Messerly B, Miller J, Mislivec A, Morfín JG, Mousseau J, Naples D, Nelson JK, Norrick A, Nuruzzaman, Patrick CE, Perdue GN, Ramírez MA, Ren L, Rimal D, Rodrigues PA, Ruterbories D, Schellman H, Sobczyk JT, Solano Salinas CJ, Sánchez Falero S, Valencia E, Wolcott J, Wospakrik M, Yaeggy B; MINERvA Collaboration.

Phys Rev Lett. 2017 Aug 25;119(8):082001. doi: 10.1103/PhysRevLett.119.082001. Epub 2017 Aug 25.

PMID:
28952766
37.

Experience-Dependent Synaptic Plasticity in V1 Occurs without Microglial CX3CR1.

Schecter RW, Maher EE, Welsh CA, Stevens B, Erisir A, Bear MF.

J Neurosci. 2017 Nov 1;37(44):10541-10553. doi: 10.1523/JNEUROSCI.2679-16.2017. Epub 2017 Sep 26.

38.

CNVs affecting cancer predisposing genes (CPGs) detected as incidental findings in routine germline diagnostic chromosomal microarray (CMA) testing.

Innes J, Reali L, Clayton-Smith J, Hall G, Lim DH, Burghel GJ, French K, Khan U, Walker D, Lalloo F, Evans DGR, McMullan D, Maher ER, Woodward ER.

J Med Genet. 2018 Feb;55(2):89-96. doi: 10.1136/jmedgenet-2017-104892. Epub 2017 Sep 16.

PMID:
28918392
39.

Echo-planar spectroscopic imaging with dual-readout alternated gradients (DRAG-EPSI) at 7 T: Application for 2-hydroxyglutarate imaging in glioma patients.

An Z, Tiwari V, Ganji SK, Baxter J, Levy M, Pinho MC, Pan E, Maher EA, Patel TR, Mickey BE, Choi C.

Magn Reson Med. 2018 Apr;79(4):1851-1861. doi: 10.1002/mrm.26884. Epub 2017 Aug 22.

40.

Estimating the human mutation rate from autozygous segments reveals population differences in human mutational processes.

Narasimhan VM, Rahbari R, Scally A, Wuster A, Mason D, Xue Y, Wright J, Trembath RC, Maher ER, van Heel DA, Auton A, Hurles ME, Tyler-Smith C, Durbin R.

Nat Commun. 2017 Aug 21;8(1):303. doi: 10.1038/s41467-017-00323-y.

41.

Measurement of Neutral-Current K^{+} Production by Neutrinos using MINERvA.

Marshall CM, Aliaga L, Altinok O, Bellantoni L, Bercellie A, Betancourt M, Bodek A, Bravar A, Cai T, Carneiro MF, da Motta H, Dytman SA, Díaz GA, Dunkman M, Eberly B, Endress E, Felix J, Fields L, Fine R, Gago AM, Galindo R, Gallagher H, Ghosh A, Golan T, Gran R, Harris DA, Higuera A, Hurtado K, Kleykamp J, Kordosky M, Le T, Maher E, Manly S, Mann WA, Caicedo DAM, McFarland KS, McGivern CL, McGowan AM, Messerly B, Miller J, Mislivec A, Morfín JG, Mousseau J, Naples D, Nelson JK, Norrick A, Nuruzzaman, Paolone V, Patrick CE, Perdue GN, Ramírez MA, Ransome RD, Ray H, Ren L, Rimal D, Rodrigues PA, Ruterbories D, Schmitz DW, Solano Salinas CJ, Sultana M, Sánchez Falero S, Valencia E, Walton T, Wolcott J, Wospakrik M, Yaeggy B, Zhang D; MINERvA Collaboration.

Phys Rev Lett. 2017 Jul 7;119(1):011802. doi: 10.1103/PhysRevLett.119.011802. Epub 2017 Jul 7.

PMID:
28731762
42.

A case of a metastatic SDHA mutated paraganglioma re-presenting twenty-three years after initial surgery.

Casey RT, Challis BG, Marker A, Pitfield D, Cheow HK, Shaw A, Park SM, Simpson HL, Maher ER.

Endocr Relat Cancer. 2017 Aug;24(8):L69-L71. doi: 10.1530/ERC-17-0206. No abstract available.

43.

Fetal Dysmorphology-Still an Essential Art. Analysis of the Limitations of Microarray in a Fetal Population and a Look Toward the Genome Sequencing Era.

Fletcher E, Porteous M, McKenzie KJ, Maher EJ, Evans MJ.

Pediatr Dev Pathol. 2017 Jul-Aug;20(4):288-297. doi: 10.1177/1093526617693104. Epub 2017 Jan 1.

PMID:
28727969
44.

Surveillance Recommendations for Children with Overgrowth Syndromes and Predisposition to Wilms Tumors and Hepatoblastoma.

Kalish JM, Doros L, Helman LJ, Hennekam RC, Kuiper RP, Maas SM, Maher ER, Nichols KE, Plon SE, Porter CC, Rednam S, Schultz KAP, States LJ, Tomlinson GE, Zelley K, Druley TE.

Clin Cancer Res. 2017 Jul 1;23(13):e115-e122. doi: 10.1158/1078-0432.CCR-17-0710. Review.

45.

Effectiveness of family group conferencing in preventing repeat referrals to child protective services and out-of-home placements.

Hollinshead DM, Corwin TW, Maher EJ, Merkel-Holguin L, Allan H, Fluke JD.

Child Abuse Negl. 2017 Jul;69:285-294. doi: 10.1016/j.chiabu.2017.04.022. Epub 2017 May 23.

PMID:
28549264
46.

Measurement of glycine in healthy and tumorous brain by triple-refocusing MRS at 3 T in vivo.

Tiwari V, An Z, Ganji SK, Baxter J, Patel TR, Pan E, Mickey BE, Maher EA, Pinho MC, Choi C.

NMR Biomed. 2017 Sep;30(9). doi: 10.1002/nbm.3747. Epub 2017 May 26.

47.

SDHA related tumorigenesis: a new case series and literature review for variant interpretation and pathogenicity.

Casey RT, Ascher DB, Rattenberry E, Izatt L, Andrews KA, Simpson HL, Challis B, Park SM, Bulusu VR, Lalloo F, Pires DEV, West H, Clark GR, Smith PS, Whitworth J, Papathomas TG, Taniere P, Savisaar R, Hurst LD, Woodward ER, Maher ER.

Mol Genet Genomic Med. 2017 Mar 2;5(3):237-250. doi: 10.1002/mgg3.279. eCollection 2017 May.

48.

Nomenclature and definition in asymmetric regional body overgrowth.

Kalish JM, Biesecker LG, Brioude F, Deardorff MA, Di Cesare-Merlone A, Druley T, Ferrero GB, Lapunzina P, Larizza L, Maas S, Macchiaiolo M, Maher ER, Maitz S, Martinez-Agosto JA, Mussa A, Robinson P, Russo S, Selicorni A, Hennekam RC.

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