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Items: 1 to 50 of 503

1.

TAZ functions as a tumor suppressor in multiple myeloma by downregulating MYC.

Grieve S, Wajnberg G, Lees M, Chacko S, Weir J, Crapoulet N, Reiman T.

Blood Adv. 2019 Nov 26;3(22):3613-3625. doi: 10.1182/bloodadvances.2019000374.

2.

The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients.

Ostrowski PJ, Zachariou A, Loveday C, Beleza-Meireles A, Bertoli M, Dean J, Douglas AGL, Ellis I, Foster A, Graham JM, Hague J, Hilhorst-Hofstee Y, Hoffer M, Johnson D, Josifova D, Kant SG, Kini U, Lachlan K, Lam W, Lees M, Lynch S, Maitz S, McKee S, Metcalfe K, Nathanson K, Ockeloen CW, Parker MJ, Pierson TM, Rahikkala E, Sanchez-Lara PA, Spano A, Van Maldergem L, Cole T, Douzgou S, Tatton-Brown K.

Am J Med Genet C Semin Med Genet. 2019 Dec;181(4):557-564. doi: 10.1002/ajmg.c.31749. Epub 2019 Nov 13.

PMID:
31721432
3.

Efa6 protects axons and regulates their growth and branching by inhibiting microtubule polymerisation at the cortex.

Qu Y, Hahn I, Lees M, Parkin J, Voelzmann A, Dorey K, Rathbone A, Friel CT, Allan VJ, Okenve-Ramos P, Sanchez-Soriano N, Prokop A.

Elife. 2019 Nov 13;8. pii: e50319. doi: 10.7554/eLife.50319.

4.

Investigation of superconducting gap structure in HfIrSi using muon spin relaxation/rotation.

Bhattacharyya A, Panda K, Adroja DT, Kase N, Biswas PK, Saha S, Das T, Lees MR, Hillier AD.

J Phys Condens Matter. 2020 Feb 20;32(8):085601. doi: 10.1088/1361-648X/ab549e. Epub 2019 Nov 5.

PMID:
31689696
5.

Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data.

Aitken S, Firth HV, McRae J, Halachev M, Kini U, Parker MJ, Lees MM, Lachlan K, Sarkar A, Joss S, Splitt M, McKee S, Németh AH, Scott RH, Wright CF, Marsh JA, Hurles ME, FitzPatrick DR; DDD Study.

Am J Hum Genet. 2019 Nov 7;105(5):933-946. doi: 10.1016/j.ajhg.2019.09.015. Epub 2019 Oct 10.

6.

Familial Absent Uvula With Velopharyngeal Incompetence-A New Syndrome?

Sommerlad B, Seselgyte R, Lees M, Pauws E, Stanier P, Sell D.

Cleft Palate Craniofac J. 2019 Oct 13:1055665619880401. doi: 10.1177/1055665619880401. [Epub ahead of print]

PMID:
31607140
7.

Skeletal muscle, haematological and splenic volume characteristics of elite breath-hold divers.

Elia A, Wilson OJ, Lees M, Parker PJ, Barlow MJ, Cocks M, O'Hara JP.

Eur J Appl Physiol. 2019 Dec;119(11-12):2499-2511. doi: 10.1007/s00421-019-04230-6. Epub 2019 Sep 21.

8.

Malaria eradication within a generation: ambitious, achievable, and necessary.

Feachem RGA, Chen I, Akbari O, Bertozzi-Villa A, Bhatt S, Binka F, Boni MF, Buckee C, Dieleman J, Dondorp A, Eapen A, Sekhri Feachem N, Filler S, Gething P, Gosling R, Haakenstad A, Harvard K, Hatefi A, Jamison D, Jones KE, Karema C, Kamwi RN, Lal A, Larson E, Lees M, Lobo NF, Micah AE, Moonen B, Newby G, Ning X, Pate M, Quiñones M, Roh M, Rolfe B, Shanks D, Singh B, Staley K, Tulloch J, Wegbreit J, Woo HJ, Mpanju-Shumbusho W.

Lancet. 2019 Sep 21;394(10203):1056-1112. doi: 10.1016/S0140-6736(19)31139-0. Epub 2019 Sep 8. Review. No abstract available.

PMID:
31511196
9.

Ir 5d-band derived superconductivity in LaIr3.

Bhattacharyya A, Adroja DT, Biswas PK, Sato YJ, Lees MR, Aoki D, Hillier AD.

J Phys Condens Matter. 2020 Feb 6;32(6):065602. doi: 10.1088/1361-648X/ab4389. Epub 2019 Sep 11.

PMID:
31509814
10.

Superconductivity and the upper critical field in the chiral noncentrosymmetric superconductor NbRh2B2.

Mayoh DA, Pearce MJ, Götze K, Hillier AD, Balakrishnan G, Lees MR.

J Phys Condens Matter. 2019 Nov 20;31(46):465601. doi: 10.1088/1361-648X/ab348b. Epub 2019 Aug 19.

PMID:
31425149
11.

Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative.

Nellåker C, Alkuraya FS, Baynam G, Bernier RA, Bernier FPJ, Boulanger V, Brudno M, Brunner HG, Clayton-Smith J, Cogné B, Dawkins HJS, deVries BBA, Douzgou S, Dudding-Byth T, Eichler EE, Ferlaino M, Fieggen K, Firth HV, FitzPatrick DR, Gration D, Groza T, Haendel M, Hallowell N, Hamosh A, Hehir-Kwa J, Hitz MP, Hughes M, Kini U, Kleefstra T, Kooy RF, Krawitz P, Küry S, Lees M, Lyon GJ, Lyonnet S, Marcadier JL, Meyn S, Moslerová V, Politei JM, Poulton CC, Raymond FL, Reijnders MRF, Robinson PN, Romano C, Rose CM, Sainsbury DCG, Schofield L, Sutton VR, Turnovec M, Van Dijck A, Van Esch H, Wilkie AOM; Minerva Consortium.

Front Genet. 2019 Jul 29;10:611. doi: 10.3389/fgene.2019.00611. eCollection 2019.

12.

HIST1H1E heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals.

Burkardt DD, Zachariou A, Loveday C, Allen CL, Amor DJ, Ardissone A, Banka S, Bourgois A, Coubes C, Cytrynbaum C, Faivre L, Marion G, Horton R, Kotzot D, Lay-Son G, Lees M, Low K, Luk HM, Mark P, McConkie-Rosell A, McDonald M, Pappas J, Phillipe C, Shears D, Skotko B, Stewart F, Stewart H, Temple IK, Mau-Them FT, Verdugo RA, Weksberg R, Zarate YA, Graham JM, Tatton-Brown K.

Am J Med Genet A. 2019 Oct;179(10):2049-2055. doi: 10.1002/ajmg.a.61321. Epub 2019 Aug 9.

PMID:
31400068
13.

Avoiding initial hypothermia does not improve liver graft quality in a porcine donation after circulatory death (DCD) model of normothermic perfusion.

Nostedt JJ, Churchill T, Ghosh S, Thiesen A, Hopkins J, Lees MC, Adam B, Freed DH, Shapiro AMJ, Bigam DL.

PLoS One. 2019 Aug 6;14(8):e0220786. doi: 10.1371/journal.pone.0220786. eCollection 2019.

14.

A clinical scoring system for congenital contractural arachnodactyly.

Meerschaut I, De Coninck S, Steyaert W, Barnicoat A, Bayat A, Benedicenti F, Berland S, Blair EM, Breckpot J, de Burca A, Destrée A, García-Miñaúr S, Green AJ, Hanna BC, Keymolen K, Koopmans M, Lederer D, Lees M, Longman C, Lynch SA, Male AM, McKenzie F, Migeotte I, Mihci E, Nur B, Petit F, Piard J, Plasschaert FS, Rauch A, Ribaï P, Pacheco IS, Stanzial F, Stolte-Dijkstra I, Valenzuela I, Varghese V, Vasudevan PC, Wakeling E, Wallgren-Pettersson C, Coucke P, De Paepe A, De Wolf D, Symoens S, Callewaert B.

Genet Med. 2019 Jul 18. doi: 10.1038/s41436-019-0609-8. [Epub ahead of print]

PMID:
31316167
15.

Response: Muscle strength and function rather than muscle mass in sarcopenia.

Lees MJ, Wilson OJ, Hind K, Ispoglou T.

Eur J Appl Physiol. 2019 Jul;119(7):1673-1674. doi: 10.1007/s00421-019-04156-z. Epub 2019 May 3. No abstract available.

PMID:
31053926
16.

Mutation update for the SATB2 gene.

Zarate YA, Bosanko KA, Caffrey AR, Bernstein JA, Martin DM, Williams MS, Berry-Kravis EM, Mark PR, Manning MA, Bhambhani V, Vargas M, Seeley AH, Estrada-Veras JI, van Dooren MF, Schwab M, Vanderver A, Melis D, Alsadah A, Sadler L, Van Esch H, Callewaert B, Oostra A, Maclean J, Dentici ML, Orlando V, Lipson M, Sparagana SP, Maarup TJ, Alsters SI, Brautbar A, Kovitch E, Naidu S, Lees M, Smith DM, Turner L, Raggio V, Spangenberg L, Garcia-Miñaúr S, Roeder ER, Littlejohn RO, Grange D, Pfotenhauer J, Jones MC, Balasubramanian M, Martinez-Monseny A, Blok LS, Gavrilova R, Fish JL.

Hum Mutat. 2019 Aug;40(8):1013-1029. doi: 10.1002/humu.23771. Epub 2019 Jun 18.

PMID:
31021519
17.

Disruption of FOXF2 as a Likely Cause of Absent Uvula in an Egyptian Family.

Seselgyte R, Bryant D, Demetriou C, Ishida M, Peskett E, Moreno N, Morrogh D, Sell D, Lees M, Farrall M, Moore GE, Sommerlad B, Pauws E, Stanier P.

J Dent Res. 2019 Jun;98(6):659-665. doi: 10.1177/0022034519837245. Epub 2019 Mar 27.

18.

Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.

Vetrini F, McKee S, Rosenfeld JA, Suri M, Lewis AM, Nugent KM, Roeder E, Littlejohn RO, Holder S, Zhu W, Alaimo JT, Graham B, Harris JM, Gibson JB, Pastore M, McBride KL, Komara M, Al-Gazali L, Al Shamsi A, Fanning EA, Wierenga KJ, Scott DA, Ben-Neriah Z, Meiner V, Cassuto H, Elpeleg O, Lloyd Holder J Jr, Burrage LC, Seaver LH, Van Maldergem L, Mahida S, Soul JS, Marlatt M, Matyakhina L, Vogt J, Gold JA, Park SM, Varghese V, Lampe AK, Kumar A, Lees M, Holder-Espinasse M, McConnell V, Bernhard B, Blair E, Harrison V; DDD study, Muzny DM, Gibbs RA, Elsea SH, Posey JE, Bi W, Lalani S, Xia F, Yang Y, Eng CM, Lupski JR, Liu P.

Genome Med. 2019 Mar 25;11(1):16. doi: 10.1186/s13073-019-0630-1.

19.

De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder.

Calpena E, Hervieu A, Kaserer T, Swagemakers SMA, Goos JAC, Popoola O, Ortiz-Ruiz MJ, Barbaro-Dieber T, Bownass L, Brilstra EH, Brimble E, Foulds N, Grebe TA, Harder AVE, Lees MM, Monaghan KG, Newbury-Ecob RA, Ong KR, Osio D, Reynoso Santos FJ, Ruzhnikov MRZ, Telegrafi A, van Binsbergen E, van Dooren MF; Deciphering Developmental Disorders Study, van der Spek PJ, Blagg J, Twigg SRF, Mathijssen IMJ, Clarke PA, Wilkie AOM.

Am J Hum Genet. 2019 Apr 4;104(4):709-720. doi: 10.1016/j.ajhg.2019.02.006. Epub 2019 Mar 21.

20.

Αcute effects of essential amino acid gel-based and whey protein supplements on appetite and energy intake in older women.

Butterworth M, Lees M, Harlow P, Hind K, Duckworth L, Ispoglou T.

Appl Physiol Nutr Metab. 2019 Nov;44(11):1141-1149. doi: 10.1139/apnm-2018-0650. Epub 2019 Mar 5.

PMID:
30835491
21.

De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.

Vetrini F, McKee S, Rosenfeld JA, Suri M, Lewis AM, Nugent KM, Roeder E, Littlejohn RO, Holder S, Zhu W, Alaimo JT, Graham B, Harris JM, Gibson JB, Pastore M, McBride KL, Komara M, Al-Gazali L, Al Shamsi A, Fanning EA, Wierenga KJ, Scott DA, Ben-Neriah Z, Meiner V, Cassuto H, Elpeleg O, Holder JL Jr, Burrage LC, Seaver LH, Van Maldergem L, Mahida S, Soul JS, Marlatt M, Matyakhina L, Vogt J, Gold JA, Park SM, Varghese V, Lampe AK, Kumar A, Lees M, Holder-Espinasse M, McConnell V, Bernhard B, Blair E, Harrison V; DDD study, Muzny DM, Gibbs RA, Elsea SH, Posey JE, Bi W, Lalani S, Xia F, Yang Y, Eng CM, Lupski JR, Liu P.

Genome Med. 2019 Feb 28;11(1):12. doi: 10.1186/s13073-019-0623-0. Erratum in: Genome Med. 2019 Mar 25;11(1):16.

22.

Muscle quality as a complementary prognostic tool in conjunction with sarcopenia assessment in younger and older individuals.

Lees MJ, Wilson OJ, Hind K, Ispoglou T.

Eur J Appl Physiol. 2019 May;119(5):1171-1181. doi: 10.1007/s00421-019-04107-8. Epub 2019 Feb 26.

23.

Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.

Burrage LC, Reynolds JJ, Baratang NV, Phillips JB, Wegner J, McFarquhar A, Higgs MR, Christiansen AE, Lanza DG, Seavitt JR, Jain M, Li X, Parry DA, Raman V, Chitayat D, Chinn IK, Bertuch AA, Karaviti L, Schlesinger AE, Earl D, Bamshad M, Savarirayan R, Doddapaneni H, Muzny D, Jhangiani SN, Eng CM, Gibbs RA, Bi W, Emrick L, Rosenfeld JA, Postlethwait J, Westerfield M, Dickinson ME, Beaudet AL, Ranza E, Huber C, Cormier-Daire V, Shen W, Mao R, Heaney JD, Orange JS; University of Washington Center for Mendelian Genomics; Undiagnosed Diseases Network, Bertola D, Yamamoto GL, Baratela WAR, Butler MG, Ali A, Adeli M, Cohn DH, Krakow D, Jackson AP, Lees M, Offiah AC, Carlston CM, Carey JC, Stewart GS, Bacino CA, Campeau PM, Lee B.

Am J Hum Genet. 2019 Mar 7;104(3):422-438. doi: 10.1016/j.ajhg.2019.01.007. Epub 2019 Feb 14.

24.

Severe Bradycardia Prior to Coronary Artery Bypass Graft Surgery: A Case Report.

Harky A, Bashir M, Grafton-Clarke C, Lees M, Fendius S, Roberts N.

J Tehran Heart Cent. 2018 Jul;13(3):136-139.

25.

A ketogenic diet diminishes behavioral responses to cocaine in young adult male and female rats.

Martinez LA, Lees ME, Ruskin DN, Masino SA.

Neuropharmacology. 2019 May 1;149:27-34. doi: 10.1016/j.neuropharm.2019.02.001. Epub 2019 Feb 4.

PMID:
30731137
26.

Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.

van der Sluijs PJ, Jansen S, Vergano SA, Adachi-Fukuda M, Alanay Y, AlKindy A, Baban A, Bayat A, Beck-Wödl S, Berry K, Bijlsma EK, Bok LA, Brouwer AFJ, van der Burgt I, Campeau PM, Canham N, Chrzanowska K, Chu YWY, Chung BHY, Dahan K, De Rademaeker M, Destree A, Dudding-Byth T, Earl R, Elcioglu N, Elias ER, Fagerberg C, Gardham A, Gener B, Gerkes EH, Grasshoff U, van Haeringen A, Heitink KR, Herkert JC, den Hollander NS, Horn D, Hunt D, Kant SG, Kato M, Kayserili H, Kersseboom R, Kilic E, Krajewska-Walasek M, Lammers K, Laulund LW, Lederer D, Lees M, López-González V, Maas S, Mancini GMS, Marcelis C, Martinez F, Maystadt I, McGuire M, McKee S, Mehta S, Metcalfe K, Milunsky J, Mizuno S, Moeschler JB, Netzer C, Ockeloen CW, Oehl-Jaschkowitz B, Okamoto N, Olminkhof SNM, Orellana C, Pasquier L, Pottinger C, Riehmer V, Robertson SP, Roifman M, Rooryck C, Ropers FG, Rosello M, Ruivenkamp CAL, Sagiroglu MS, Sallevelt SCEH, Calvo AS, Simsek-Kiper PO, Soares G, Solaeche L, Sonmez FM, Splitt M, Steenbeek D, Stegmann APA, Stumpel CTRM, Tanabe S, Uctepe E, Utine GE, Veenstra-Knol HE, Venkateswaran S, Vilain C, Vincent-Delorme C, Vulto-van Silfhout AT, Wheeler P, Wilson GN, Wilson LC, Wollnik B, Kosho T, Wieczorek D, Eichler E, Pfundt R, de Vries BBA, Clayton-Smith J, Santen GWE.

Genet Med. 2019 Sep;21(9):2160-2161. doi: 10.1038/s41436-018-0368-y.

27.

Iron Carbide@Carbon Nanocomposites: A Tool Box of Functional Materials.

Defilippi C, Mukadam MOA, Nicolae SA, Lees MR, Giordano C.

Materials (Basel). 2019 Jan 21;12(2). pii: E323. doi: 10.3390/ma12020323.

28.

Achieving orphan designation for placental insufficiency: annual incidence estimations in Europe.

Spencer R, Rossi C, Lees M, Peebles D, Brocklehurst P, Martin J, Hansson SR, Hecher K, Marsal K, Figueras F, Gratacos E, David AL; EVERREST Consortium.

BJOG. 2019 Aug;126(9):1157-1167. doi: 10.1111/1471-0528.15590. Epub 2019 Feb 6.

PMID:
30576053
29.

Factors Affecting the Development of Confidence Among Surgical Trainees.

Lees MC, Zheng B, Daniels LM, White JS.

J Surg Educ. 2019 May - Jun;76(3):674-683. doi: 10.1016/j.jsurg.2018.10.016. Epub 2018 Nov 23.

PMID:
30477903
30.

The present and future burden of previously treated advanced non-small cell lung cancer (NSCLC) by histology and line of therapy in France, Germany, Italy, and Spain: model-based predictions.

Campbell D, O'Day K, Hertel N, Penrod JR, Manley Daumont M, Lees M.

Popul Health Metr. 2018 Nov 26;16(1):17. doi: 10.1186/s12963-018-0174-4.

31.

DLK1 Is a Novel Link Between Reproduction and Metabolism.

Gomes LG, Cunha-Silva M, Crespo RP, Ramos CO, Montenegro LR, Canton A, Lees M, Spoudeas H, Dauber A, Macedo DB, Bessa DS, Maciel GA, Baracat EC, Jorge AAL, Mendonca BB, Brito VN, Latronico AC.

J Clin Endocrinol Metab. 2019 Jun 1;104(6):2112-2120. doi: 10.1210/jc.2018-02010.

PMID:
30462238
32.

Time to really share real-world data?

Graham S, McDonald L, Wasiak R, Lees M, Ramagopalan S.

F1000Res. 2018 Jul 11;7:1054. doi: 10.12688/f1000research.15517.1. eCollection 2018.

33.

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.

van der Sluijs PJ, Jansen S, Vergano SA, Adachi-Fukuda M, Alanay Y, AlKindy A, Baban A, Bayat A, Beck-Wödl S, Berry K, Bijlsma EK, Bok LA, Brouwer AFJ, van der Burgt I, Campeau PM, Canham N, Chrzanowska K, Chu YWY, Chung BHY, Dahan K, De Rademaeker M, Destree A, Dudding-Byth T, Earl R, Elcioglu N, Elias ER, Fagerberg C, Gardham A, Gener B, Gerkes EH, Grasshoff U, van Haeringen A, Heitink KR, Herkert JC, den Hollander NS, Horn D, Hunt D, Kant SG, Kato M, Kayserili H, Kersseboom R, Kilic E, Krajewska-Walasek M, Lammers K, Laulund LW, Lederer D, Lees M, López-González V, Maas S, Mancini GMS, Marcelis C, Martinez F, Maystadt I, McGuire M, McKee S, Mehta S, Metcalfe K, Milunsky J, Mizuno S, Moeschler JB, Netzer C, Ockeloen CW, Oehl-Jaschkowitz B, Okamoto N, Olminkhof SNM, Orellana C, Pasquier L, Pottinger C, Riehmer V, Robertson SP, Roifman M, Rooryck C, Ropers FG, Rosello M, Ruivenkamp CAL, Sagiroglu MS, Sallevelt SCEH, Sanchis Calvo A, Simsek-Kiper PO, Soares G, Solaeche L, Sonmez FM, Splitt M, Steenbeek D, Stegmann APA, Stumpel CTRM, Tanabe S, Uctepe E, Utine GE, Veenstra-Knol HE, Venkateswaran S, Vilain C, Vincent-Delorme C, Vulto-van Silfhout AT, Wheeler P, Wilson GN, Wilson LC, Wollnik B, Kosho T, Wieczorek D, Eichler E, Pfundt R, de Vries BBA, Clayton-Smith J, Santen GWE.

Genet Med. 2019 Jun;21(6):1295-1307. doi: 10.1038/s41436-018-0330-z. Epub 2018 Nov 8. Erratum in: Genet Med. 2019 Jan 29;:.

34.

KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants.

Kennedy J, Goudie D, Blair E, Chandler K, Joss S, McKay V, Green A, Armstrong R, Lees M, Kamien B, Hopper B, Tan TY, Yap P, Stark Z, Okamoto N, Miyake N, Matsumoto N, Macnamara E, Murphy JL, McCormick E, Hakonarson H, Falk MJ, Li D, Blackburn P, Klee E, Babovic-Vuksanovic D, Schelley S, Hudgins L, Kant S, Isidor B, Cogne B, Bradbury K, Williams M, Patel C, Heussler H, Duff-Farrier C, Lakeman P, Scurr I, Kini U, Elting M, Reijnders M, Schuurs-Hoeijmakers J, Wafik M, Blomhoff A, Ruivenkamp CAL, Nibbeling E, Dingemans AJM, Douine ED, Nelson SF; DDD Study,, Arboleda VA, Newbury-Ecob R.

Genet Med. 2019 Apr;21(4):850-860. doi: 10.1038/s41436-018-0259-2. Epub 2018 Sep 24.

35.

Evidence for dynamic kagome ice.

Lhotel E, Petit S, Ciomaga Hatnean M, Ollivier J, Mutka H, Ressouche E, Lees MR, Balakrishnan G.

Nat Commun. 2018 Sep 17;9(1):3786. doi: 10.1038/s41467-018-06212-2.

36.

The humanistic burden associated with caring for patients with advanced non-small cell lung cancer (NSCLC) in three European countries-a real-world survey of caregivers.

Wood R, Taylor-Stokes G, Lees M.

Support Care Cancer. 2019 May;27(5):1709-1719. doi: 10.1007/s00520-018-4419-3. Epub 2018 Aug 18.

PMID:
30121787
37.

De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder.

Gregor A, Sadleir LG, Asadollahi R, Azzarello-Burri S, Battaglia A, Ousager LB, Boonsawat P, Bruel AL, Buchert R, Calpena E, Cogné B, Dallapiccola B, Distelmaier F, Elmslie F, Faivre L, Haack TB, Harrison V, Henderson A, Hunt D, Isidor B, Joset P, Kumada S, Lachmeijer AMA, Lees M, Lynch SA, Martinez F, Matsumoto N, McDougall C, Mefford HC, Miyake N, Myers CT, Moutton S, Nesbitt A, Novelli A, Orellana C, Rauch A, Rosello M, Saida K, Santani AB, Sarkar A, Scheffer IE, Shinawi M, Steindl K, Symonds JD, Zackai EH; University of Washington Center for Mendelian Genomics; DDD Study, Reis A, Sticht H, Zweier C.

Am J Hum Genet. 2018 Aug 2;103(2):305-316. doi: 10.1016/j.ajhg.2018.07.003. Epub 2018 Jul 26.

38.

Ultrafast Multiplexed-Allergen Detection through Advanced Fluidic Design and Monolithic Interferometric Silicon Chips.

Angelopoulou M, Petrou PS, Makarona E, Haasnoot W, Moser I, Jobst G, Goustouridis D, Lees M, Kalatzi K, Raptis I, Misiakos K, Kakabakos SE.

Anal Chem. 2018 Aug 7;90(15):9559-9567. doi: 10.1021/acs.analchem.8b02321. Epub 2018 Jul 12.

PMID:
29999303
39.

Field-induced canting of magnetic moments in GdCo5 at finite temperature: first-principles calculations and high-field measurements.

Patrick CE, Kumar S, Götze K, Pearce MJ, Singleton J, Rowlands G, Balakrishnan G, Lees MR, Goddard PA, Staunton JB.

J Phys Condens Matter. 2018 Aug 15;30(32):32LT01. doi: 10.1088/1361-648X/aad029. Epub 2018 Jun 29.

PMID:
29957599
40.

The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants.

Tatton-Brown K, Zachariou A, Loveday C, Renwick A, Mahamdallie S, Aksglaede L, Baralle D, Barge-Schaapveld D, Blyth M, Bouma M, Breckpot J, Crabb B, Dabir T, Cormier-Daire V, Fauth C, Fisher R, Gener B, Goudie D, Homfray T, Hunter M, Jorgensen A, Kant SG, Kirally-Borri C, Koolen D, Kumar A, Labilloy A, Lees M, Marcelis C, Mercer C, Mignot C, Miller K, Neas K, Newbury-Ecob R, Pilz DT, Posmyk R, Prada C, Ramsey K, Randolph LM, Selicorni A, Shears D, Suri M, Temple IK, Turnpenny P, Val Maldergem L, Varghese V, Veenstra-Knol HE, Yachelevich N, Yates L; Clinical Assessment of the Utility of Sequencing and Evaluation as a Service (CAUSES) Research Study; Deciphering Developmental Disorders (DDD) Study, Rahman N.

Wellcome Open Res. 2018 Apr 23;3:46. doi: 10.12688/wellcomeopenres.14430.1. eCollection 2018.

41.

De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.

Reijnders MRF, Miller KA, Alvi M, Goos JAC, Lees MM, de Burca A, Henderson A, Kraus A, Mikat B, de Vries BBA, Isidor B, Kerr B, Marcelis C, Schluth-Bolard C, Deshpande C, Ruivenkamp CAL, Wieczorek D; Deciphering Developmental Disorders Study, Baralle D, Blair EM, Engels H, Lüdecke HJ, Eason J, Santen GWE, Clayton-Smith J, Chandler K, Tatton-Brown K, Payne K, Helbig K, Radtke K, Nugent KM, Cremer K, Strom TM, Bird LM, Sinnema M, Bitner-Glindzicz M, van Dooren MF, Alders M, Koopmans M, Brick L, Kozenko M, Harline ML, Klaassens M, Steinraths M, Cooper NS, Edery P, Yap P, Terhal PA, van der Spek PJ, Lakeman P, Taylor RL, Littlejohn RO, Pfundt R, Mercimek-Andrews S, Stegmann APA, Kant SG, McLean S, Joss S, Swagemakers SMA, Douzgou S, Wall SA, Küry S, Calpena E, Koelling N, McGowan SJ, Twigg SRF, Mathijssen IMJ, Nellaker C, Brunner HG, Wilkie AOM.

Am J Hum Genet. 2018 Jun 7;102(6):1195-1203. doi: 10.1016/j.ajhg.2018.04.014. Epub 2018 May 31.

42.

Interpretation of Dual-Energy X-Ray Absorptiometry-Derived Body Composition Change in Athletes: A Review and Recommendations for Best Practice.

Hind K, Slater G, Oldroyd B, Lees M, Thurlow S, Barlow M, Shepherd J.

J Clin Densitom. 2018 Jul - Sep;21(3):429-443. doi: 10.1016/j.jocd.2018.01.002. Epub 2018 Mar 23. Review.

PMID:
29754949
43.

An exploratory case study of the impact of expanding cost-effectiveness analysis for second-line nivolumab for patients with squamous non-small cell lung cancer in Canada: Does it make a difference?

Shafrin J, Skornicki M, Brauer M, Villeneuve J, Lees M, Hertel N, Penrod JR, Jansen J.

Health Policy. 2018 Jun;122(6):607-613. doi: 10.1016/j.healthpol.2018.04.008. Epub 2018 Apr 26.

44.

Modeling the economic outcomes of immuno-oncology drugs: alternative model frameworks to capture clinical outcomes.

Gibson EJ, Begum N, Koblbauer I, Dranitsaris G, Liew D, McEwan P, Tahami Monfared AA, Yuan Y, Juarez-Garcia A, Tyas D, Lees M.

Clinicoecon Outcomes Res. 2018 Mar 8;10:139-154. doi: 10.2147/CEOR.S144208. eCollection 2018.

45.

Calculating the Magnetic Anisotropy of Rare-Earth-Transition-Metal Ferrimagnets.

Patrick CE, Kumar S, Balakrishnan G, Edwards RS, Lees MR, Petit L, Staunton JB.

Phys Rev Lett. 2018 Mar 2;120(9):097202. doi: 10.1103/PhysRevLett.120.097202.

PMID:
29547338
46.

Oral feeding outcomes in infants with esophageal atresia and tracheoesophageal fistula.

Lees MC, Bratu I, Yaskina M, van Manen M.

J Pediatr Surg. 2018 May;53(5):929-932. doi: 10.1016/j.jpedsurg.2018.02.018. Epub 2018 Feb 7.

PMID:
29519575
47.

Low temperature magnetic properties of Nd2Ru2O7.

Ku ST, Kumar D, Lees MR, Lee WT, Aldus R, Studer A, Imperia P, Asai S, Masuda T, Chen SW, Chen JM, Chang LJ.

J Phys Condens Matter. 2018 Apr 18;30(15):155601. doi: 10.1088/1361-648X/aab398. Epub 2018 Mar 2.

PMID:
29498360
48.

Magnetisation process in the rare earth tetraborides, NdB4 and HoB4.

Brunt D, Balakrishnan G, Mayoh DA, Lees MR, Gorbunov D, Qureshi N, Petrenko OA.

Sci Rep. 2018 Jan 10;8(1):232. doi: 10.1038/s41598-017-18301-1.

49.

Survey-based socio-economic data from slums in Bangalore, India.

Roy D, Palavalli B, Menon N, King R, Pfeffer K, Lees M, Sloot PMA.

Sci Data. 2018 Jan 9;5:170200. doi: 10.1038/sdata.2017.200.

50.

Perspectives of children and adolescents on the perceived determinants of physical activity during recess.

Hannus A, Lees M, Mägi K, Riimets A, Kalma M, Riso EM, Kull M.

Psychol Health Med. 2018 Sep;23(8):1016-1024. doi: 10.1080/13548506.2017.1417611. Epub 2017 Dec 21.

PMID:
29262716

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