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Items: 1 to 50 of 495

1.

Gastrointestinal anastomosis using a new lumen-apposing metal stent for biliary drainage is a good option in the palliative setting.

Chawki NS, Leroy B, Hag B, Roblin X, Phelip JM, Williet N.

Endoscopy. 2019 Jun 4. doi: 10.1055/a-0924-5380. [Epub ahead of print] No abstract available.

PMID:
31163482
2.

Improving recommendations for genomic medicine: building an evolutionary process from clinical practice advisory documents to guidelines.

Burke W, Clayton EW, Wolf SM, Berry SA, Evans BJ, Evans JP, Hall R, Korngiebel D, Laberge AM, LeRoy BS, McGuire AL.

Genet Med. 2019 Jun 4. doi: 10.1038/s41436-019-0549-3. [Epub ahead of print] Review.

PMID:
31160753
3.

An exploration of novice genetic counselors' transitional challenges: Commencement is just the beginning.

Ramachandra DB, McCarthy Veach P, LeRoy BS, Tryon R.

J Genet Couns. 2019 May 6. doi: 10.1002/jgc4.1125. [Epub ahead of print]

PMID:
31058408
4.

Scientific and Regulatory Policy Committee Points to Consider*: Review of Scientific and Regulatory Policy Committee Points to Consider: Review of Current Practices for Ultrastructural Pathology Evaluations in Support of Nonclinical Toxicology Studies.

Keirstead ND, Janovitz EB, Meehan JT, LeRoy BE, Megill JR, Peterson RA, Masson RG, Marxfeld HA.

Toxicol Pathol. 2019 Jun;47(4):461-468. doi: 10.1177/0192623319835170. Epub 2019 Apr 24.

PMID:
31018785
5.

Proteomic analysis reveals novel insights into tanshinones biosynthesis in Salvia miltiorrhiza hairy roots.

Contreras A, Leroy B, Mariage PA, Wattiez R.

Sci Rep. 2019 Apr 8;9(1):5768. doi: 10.1038/s41598-019-42164-3.

6.

Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disorders.

Zeitz C, Michiels C, Neuillé M, Friedburg C, Condroyer C, Boyard F, Antonio A, Bouzidi N, Milicevic D, Veaux R, Tourville A, Zoumba A, Seneina I, Foussard M, Andrieu C, N Preising M, Blanchard S, Saraiva JP, Mesrob L, Le Floch E, Jubin C, Meyer V, Blanché H, Boland A, Deleuze JF, Sharon D, Drumare I, Defoort-Dhellemmes S, De Baere E, Leroy BP, Zanlonghi X, Casteels I, de Ravel TJ, Balikova I, K Koenekoop R, Laffargue F, McLean R, Gottlob I, Bonneau D, Schorderet DF, L Munier F, McKibbin M, Prescott K, Pelletier V, Dollfus H, Perdomo-Trujillo Y, Faure C, Reiff C, Wissinger B, Meunier I, Kohl S, Banin E, Zrenner E, Jurklies B, Lorenz B, Sahel JA, Audo I.

Hum Mutat. 2019 Jun;40(6):765-787. doi: 10.1002/humu.23735. Epub 2019 Mar 28.

PMID:
30825406
7.

Genetic counseling supervisor strategies: An elaboration of the Reciprocal-Engagement Model of Supervision.

Suguitan MD, McCarthy Veach P, LeRoy B, Wherley C, Redlinger-Grosse K.

J Genet Couns. 2019 Jun;28(3):602-615. doi: 10.1002/jgc4.1057. Epub 2019 Feb 23.

PMID:
30801849
8.

The dynamical signature of anhedonia in major depressive disorder: positive emotion dynamics, reactivity, and recovery.

Heininga VE, Dejonckheere E, Houben M, Obbels J, Sienaert P, Leroy B, van Roy J, Kuppens P.

BMC Psychiatry. 2019 Feb 8;19(1):59. doi: 10.1186/s12888-018-1983-5.

9.

High prevalence of cancer-associated TP53 variants in the gnomAD database: A word of caution concerning the use of variant filtering.

Soussi T, Leroy B, Devir M, Rosenberg S.

Hum Mutat. 2019 May;40(5):516-524. doi: 10.1002/humu.23717. Epub 2019 Mar 28.

PMID:
30720243
10.

Beyond medical actionability: Public perceptions of important actions in response to hypothetical genetic testing results.

Seiffert DJ, McCarthy Veach P, LeRoy B, Guan W, Zierhut H.

J Genet Couns. 2019 Apr;28(2):355-366. doi: 10.1002/jgc4.1048. Epub 2019 Feb 2.

PMID:
30710467
11.

ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants.

Bauwens M, Garanto A, Sangermano R, Naessens S, Weisschuh N, De Zaeytijd J, Khan M, Sadler F, Balikova I, Van Cauwenbergh C, Rosseel T, Bauwens J, De Leeneer K, De Jaegere S, Van Laethem T, De Vries M, Carss K, Arno G, Fakin A, Webster AR, de Ravel de l'Argentière TJL, Sznajer Y, Vuylsteke M, Kohl S, Wissinger B, Cherry T, Collin RWJ, Cremers FPM, Leroy BP, De Baere E.

Genet Med. 2019 Jan 23. doi: 10.1038/s41436-018-0420-y. [Epub ahead of print]

PMID:
30670881
12.

The N-terminal p.(Ser38Cys) TIMP3 mutation underlying Sorsby fundus dystrophy is a founder mutation disrupting an intramolecular disulfide bond.

Naessens S, De Zaeytijd J, Syx D, Vandenbroucke RE, Smeets F, Van Cauwenbergh C, Leroy BP, Peelman F, Coppieters F.

Hum Mutat. 2019 May;40(5):539-551. doi: 10.1002/humu.23713. Epub 2019 Feb 6.

PMID:
30668888
13.

Ocular involvement in systemic sclerosis: A systematic literature review, it's not all scleroderma that meets the eye.

Kreps EO, Carton C, Cutolo M, Cutolo CA, Vanhaecke A, Leroy BP, Smith V.

Semin Arthritis Rheum. 2018 Dec 28. pii: S0049-0172(18)30615-2. doi: 10.1016/j.semarthrit.2018.12.007. [Epub ahead of print] Review.

PMID:
30660382
14.

Bardet-Biedl syndrome: Antenatal presentation of forty-five fetuses with biallelic pathogenic variants in known Bardet-Biedl syndrome genes.

Mary L, Chennen K, Stoetzel C, Antin M, Leuvrey A, Nourisson E, Alanio-Detton E, Antal MC, Attié-Bitach T, Bouvagnet P, Bouvier R, Buenerd A, Clémenson A, Devisme L, Gasser B, Gilbert-Dussardier B, Guimiot F, Khau Van Kien P, Leroy B, Loget P, Martinovic J, Pelluard F, Perez MJ, Petit F, Pinson L, Rooryck-Thambo C, Poch O, Dollfus H, Schaefer E, Muller J.

Clin Genet. 2019 Mar;95(3):384-397. doi: 10.1111/cge.13500.

PMID:
30614526
15.

Correction: Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease.

Van de Sompele S, Smith C, Karali M, Corton M, Van Schil K, Peelman F, Cherry T, Rosseel T, Verdin H, Derolez J, Van Laethem T, Khan KN, McKibbin M, Toomes C, Ali M, Torella A, Testa F, Jimenez B, Simonelli F, De Zaeytijd J, Van den Ende J, Leroy BP, Coppieters F, Ayuso C, Inglehearn CF, Banfi S, De Baere E.

Genet Med. 2019 Apr;21(4):1028. doi: 10.1038/s41436-018-0392-y.

16.

Effect of an intravitreal antisense oligonucleotide on vision in Leber congenital amaurosis due to a photoreceptor cilium defect.

Cideciyan AV, Jacobson SG, Drack AV, Ho AC, Charng J, Garafalo AV, Roman AJ, Sumaroka A, Han IC, Hochstedler MD, Pfeifer WL, Sohn EH, Taiel M, Schwartz MR, Biasutto P, Wit W, Cheetham ME, Adamson P, Rodman DM, Platenburg G, Tome MD, Balikova I, Nerinckx F, Zaeytijd J, Van Cauwenbergh C, Leroy BP, Russell SR.

Nat Med. 2019 Feb;25(2):225-228. doi: 10.1038/s41591-018-0295-0. Epub 2018 Dec 17.

PMID:
30559420
17.

Metabolic and Proteomic Responses to Salinity in Synthetic Nitrifying Communities of Nitrosomonas spp. and Nitrobacter spp.

Ilgrande C, Leroy B, Wattiez R, Vlaeminck SE, Boon N, Clauwaert P.

Front Microbiol. 2018 Nov 30;9:2914. doi: 10.3389/fmicb.2018.02914. eCollection 2018.

18.

[Anatomical and functional results of macular hole surgery using a temporal inverted internal limiting membrane flap. Experience with 24 cases].

Jeancolas AL, Foveau P, Leroy B, Berrod JP, Conart JB.

J Fr Ophtalmol. 2018 Dec;41(10):939-944. doi: 10.1016/j.jfo.2018.02.019. Epub 2018 Nov 12. French.

PMID:
30442489
19.

Abetalipoproteinemia From Previously Unreported Gene Mutations.

Aers XP, Leroy BP, Defesche JC, Shadid S.

Ann Intern Med. 2018 Nov 6. doi: 10.7326/L18-0358. [Epub ahead of print] No abstract available.

PMID:
30398540
20.

Loss of function mutations in KIF14 cause severe microcephaly and kidney development defects in humans and zebrafish.

Reilly ML, Stokman MF, Magry V, Jeanpierre C, Alves M, Paydar M, Hellinga J, Delous M, Pouly D, Failler M, Martinovic J, Loeuillet L, Leroy B, Tantau J, Roume J, Evans CG, Shan X, Filges I, Allingham JS, Kwok BH, Saunier S, Giles RH, Benmerah A.

Hum Mol Genet. 2018 Nov 1. doi: 10.1093/hmg/ddy381. [Epub ahead of print]

PMID:
30388224
21.

Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease.

Van de Sompele S, Smith C, Karali M, Corton M, Van Schil K, Peelman F, Cherry T, Rosseel T, Verdin H, Derolez J, Van Laethem T, Khan KN, McKibbin M, Toomes C, Ali M, Torella A, Testa F, Jimenez B, Simonelli F, De Zaeytijd J, Van den Ende J, Leroy BP, Coppieters F, Ayuso C, Inglehearn CF, Banfi S, De Baere E.

Genet Med. 2019 Jun;21(6):1319-1329. doi: 10.1038/s41436-018-0345-5. Epub 2018 Oct 31. Erratum in: Genet Med. 2019 Apr;21(4):1028.

22.

Correction: Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations.

Van Schil K, Naessens S, Van de Sompele S, Carron M, Aslanidis A, Van Cauwenbergh C, Mayer AK, Van Heetvelde M, Bauwens M, Verdin H, Coppieters F, Greenberg ME, Yang MG, Karlstetter M, Langmann T, De Preter K, Kohl S, Cherry TJ, Leroy BP; CNV Study Group, De Baere E.

Genet Med. 2018 Oct 8. doi: 10.1038/s41436-018-0305-0. [Epub ahead of print]

PMID:
30297699
23.

The Natural History of Inherited Retinal Dystrophy Due to Biallelic Mutations in the RPE65 Gene.

Chung DC, Bertelsen M, Lorenz B, Pennesi ME, Leroy BP, Hamel CP, Pierce E, Sallum J, Larsen M, Stieger K, Preising M, Weleber R, Yang P, Place E, Liu E, Schaefer G, DiStefano-Pappas J, Elci OU, McCague S, Wellman JA, High KA, Reape KZ.

Am J Ophthalmol. 2019 Mar;199:58-70. doi: 10.1016/j.ajo.2018.09.024. Epub 2018 Sep 28.

PMID:
30268864
24.

Clinical Characterization of 66 Patients With Congenital Retinal Disease Due to the Deep-Intronic c.2991+1655A>G Mutation in CEP290.

Valkenburg D, van Cauwenbergh C, Lorenz B, van Genderen MM, Bertelsen M, Pott JR, Coppieters F, de Zaeytijd J, Thiadens AAHJ, Klaver CCW, Kroes HY, van Schooneveld MJ, Preising M, Hoyng CB, Leroy BP, van den Born LI, Collin RWJ.

Invest Ophthalmol Vis Sci. 2018 Sep 4;59(11):4384-4391. doi: 10.1167/iovs.18-24817.

PMID:
30193310
25.

Reply.

Foveau P, Leroy B, Berrod JP, Conart JB.

Am J Ophthalmol. 2018 Nov;195:244-245. doi: 10.1016/j.ajo.2018.07.039. Epub 2018 Sep 1. No abstract available.

PMID:
30177217
26.

A post-hoc pooled analysis to evaluate the risk of hypoglycaemia with insulin glargine 300 U/mL (Gla-300) versus 100 U/mL (Gla-100) over wider nocturnal windows in individuals with type 2 diabetes on a basal-only insulin regimen.

Bolli GB, Wysham C, Fisher M, Chevalier S, Cali AMG, Leroy B, Riddle MC.

Diabetes Obes Metab. 2019 Feb;21(2):402-407. doi: 10.1111/dom.13515. Epub 2018 Oct 2.

PMID:
30160030
27.

The Spectrum of Structural and Functional Abnormalities in Female Carriers of Pathogenic Variants in the RPGR Gene.

Talib M, van Schooneveld MJ, Van Cauwenbergh C, Wijnholds J, Ten Brink JB, Florijn RJ, Schalij-Delfos NE, Dagnelie G, van Genderen MM, De Baere E, Meester-Smoor MA, De Zaeytijd J, Cremers FPM, van den Born LI, Thiadens AA, Hoyng CB, Klaver CC, Leroy BP, Bergen AA, Boon CJF.

Invest Ophthalmol Vis Sci. 2018 Aug 1;59(10):4123-4133. doi: 10.1167/iovs.17-23453.

PMID:
30105367
28.

Topologically Protected Helical States in Minimally Twisted Bilayer Graphene.

Huang S, Kim K, Efimkin DK, Lovorn T, Taniguchi T, Watanabe K, MacDonald AH, Tutuc E, LeRoy BJ.

Phys Rev Lett. 2018 Jul 20;121(3):037702. doi: 10.1103/PhysRevLett.121.037702.

PMID:
30085814
29.

Embedding photosynthetic biorefineries with circular economies: Exploring the waste recycling potential of Arthrospira sp. to produce high quality by-products.

Sachdeva N, Mascolo C, Wattiez R, Leroy B.

Bioresour Technol. 2018 Nov;268:237-246. doi: 10.1016/j.biortech.2018.07.101. Epub 2018 Jul 21.

PMID:
30081283
30.

Mutations in the gene PDE6C encoding the catalytic subunit of the cone photoreceptor phosphodiesterase in patients with achromatopsia.

Weisschuh N, Stingl K, Audo I, Biskup S, Bocquet B, Branham K, Burstedt MS, De Baere E, De Vries MJ, Golovleva I, Green A, Heckenlively J, Leroy BP, Meunier I, Traboulsi E, Wissinger B, Kohl S.

Hum Mutat. 2018 Oct;39(10):1366-1371. doi: 10.1002/humu.23606. Epub 2018 Aug 22.

PMID:
30080950
31.

Assessment of transient effects of alternative nitrogen sources in continuous cultures of Arthrospira sp. using proteomic, modeling and biochemical tools.

Sachdeva N, Giambarresi G, Poughon L, Cabrera JC, Leroy B, Lasseur C, Dussap CG, Wattiez R.

Bioresour Technol. 2018 Nov;267:492-501. doi: 10.1016/j.biortech.2018.07.062. Epub 2018 Jul 21.

PMID:
30041143
32.

Pragmatic Tools for Sharing Genomic Research Results with the Relatives of Living and Deceased Research Participants.

Wolf SM, Scholtes E, Koenig BA, Petersen GM, Berry SA, Beskow LM, Daly MB, Fernandez CV, Green RC, LeRoy BS, Lindor NM, O'Rourke PP, Breitkopf CR, Rothstein MA, Van Ness B, Wilfond BS.

J Law Med Ethics. 2018 Mar;46(1):87-109. doi: 10.1177/1073110518766024. Epub 2018 Mar 27. No abstract available.

33.

Catabolism of the groundwater micropollutant 2,6-dichlorobenzamide beyond 2,6-dichlorobenzoate is plasmid encoded in Aminobacter sp. MSH1.

T'Syen J, Raes B, Horemans B, Tassoni R, Leroy B, Lood C, van Noort V, Lavigne R, Wattiez R, Kohler HE, Springael D.

Appl Microbiol Biotechnol. 2018 Sep;102(18):7963-7979. doi: 10.1007/s00253-018-9189-9. Epub 2018 Jul 8.

PMID:
29984394
34.

Response to Costa, Lemos, and Paneque Letter to the Editor.

Veach PM, Leroy BS.

J Genet Couns. 2018 Aug;27(4):1008. doi: 10.1007/s10897-018-0277-x. Epub 2018 Jul 1. No abstract available.

PMID:
29961158
35.

Insights from modeling studies on how climate change affects invasive alien species geography.

Bellard C, Jeschke JM, Leroy B, Mace GM.

Ecol Evol. 2018 May 4;8(11):5688-5700. doi: 10.1002/ece3.4098. eCollection 2018 Jun.

36.

Fetal diagnosis of right cardiac ventricular aneurysms: A report of three cases.

Athiel Y, Barrois M, Bault JP, Cohen L, Leroy B, Quibel T.

J Gynecol Obstet Hum Reprod. 2018 Nov;47(9):481-485. doi: 10.1016/j.jogoh.2018.06.004. Epub 2018 Jun 20.

PMID:
29932991
37.

CUGC for congenital primary aphakia.

Sarkar H, Moore W, Leroy BP, Moosajee M.

Eur J Hum Genet. 2018 Aug;26(8):1234-1237. doi: 10.1038/s41431-018-0171-x. Epub 2018 May 16. No abstract available.

PMID:
29769628
38.

Pathogenic variants in the ABCC6 gene are associated with an increased risk for ischemic stroke.

De Vilder EYG, Cardoen S, Hosen MJ, Le Saux O, De Zaeytijd J, Leroy BP, De Reuck J, Coucke PJ, De Paepe A, Hemelsoet D, Vanakker OM.

Brain Pathol. 2018 Nov;28(6):822-831. doi: 10.1111/bpa.12620.

PMID:
29722917
39.

Seshat: A Web service for accurate annotation, validation, and analysis of TP53 variants generated by conventional and next-generation sequencing.

Tikkanen T, Leroy B, Fournier JL, Risques RA, Malcikova J, Soussi T.

Hum Mutat. 2018 Jul;39(7):925-933. doi: 10.1002/humu.23543. Epub 2018 May 17.

PMID:
29696732
40.

Internal Limiting Membrane Peeling in Macula-off Retinal Detachment Complicated by Grade B Proliferative Vitreoretinopathy.

Foveau P, Leroy B, Berrod JP, Conart JB.

Am J Ophthalmol. 2018 Jul;191:1-6. doi: 10.1016/j.ajo.2018.03.037. Epub 2018 Apr 3.

PMID:
29621507
41.

Managing Couple Conflict During Prenatal Counseling Sessions: An Investigation of Genetic Counselor Experiences and Perceptions.

Schoeffel K, McCarthy Veach P, Rubin K, LeRoy B.

J Genet Couns. 2018 Sep;27(5):1275-1290. doi: 10.1007/s10897-018-0252-6. Epub 2018 Mar 22.

PMID:
29569052
42.

From the Cover: Inhibitors of Nicotinamide Phosphoribosyltransferase Cause Retinal Damage in Larval Zebrafish.

Cassar S, Dunn C, Olson A, Buck W, Fossey S, Ramos MF, Sancheti P, Stolarik D, Britton H, Cole T, Bratcher N, Huang X, Peterson R, Longenecker K, LeRoy B.

Toxicol Sci. 2018 Feb 1;161(2):300-309. doi: 10.1093/toxsci/kfx212.

PMID:
29378070
43.

The Journal of Genetic Counseling: Continuing to Add Value to the Profession.

LeRoy BS, McCarthy Veach P.

J Genet Couns. 2018 Feb;27(1):312. doi: 10.1007/s10897-017-0202-8. No abstract available.

PMID:
29288411
44.

Genetic Plasticity and Ethylmalonyl Coenzyme A Pathway during Acetate Assimilation in Rhodospirillum rubrum S1H under Photoheterotrophic Conditions.

De Meur Q, Deutschbauer A, Koch M, Wattiez R, Leroy B.

Appl Environ Microbiol. 2018 Jan 17;84(3). pii: e02038-17. doi: 10.1128/AEM.02038-17. Print 2018 Feb 1.

45.

A global picture of biological invasion threat on islands.

Bellard C, Rysman JF, Leroy B, Claud C, Mace GM.

Nat Ecol Evol. 2017 Dec;1(12):1862-1869. doi: 10.1038/s41559-017-0365-6. Epub 2017 Nov 6.

PMID:
29109470
46.

A regenerative erythropoietic response does not increase the frequency of Pig-a mutant reticulocytes and erythrocytes in Sprague-Dawley rats.

Nicolette J, Murray J, Sonders P, Leroy B.

Environ Mol Mutagen. 2018 Jan;59(1):91-95. doi: 10.1002/em.22145. Epub 2017 Oct 27.

PMID:
29076186
47.

Is oral moxifloxacin associated with bilateral acute iris transillumination?

Kreps EO, Hondeghem K, Augustinus A, Sys C, Van de Veire S, Leroy BP, Schauwvlieghe PP.

Acta Ophthalmol. 2018 Jun;96(4):e547-e548. doi: 10.1111/aos.13558. Epub 2017 Oct 25. No abstract available.

48.

The importance of genetic testing as demonstrated by two cases of CACNA1F-associated retinal generation misdiagnosed as LCA.

Men CJ, Bujakowska KM, Comander J, Place E, Bedoukian EC, Zhu X, Leroy BP, Fulton AB, Pierce EA.

Mol Vis. 2017 Oct 10;23:695-706. eCollection 2017.

49.

Projecting the Supply and Demand for Certified Genetic Counselors: a Workforce Study.

Hoskovec JM, Bennett RL, Carey ME, DaVanzo JE, Dougherty M, Hahn SE, LeRoy BS, O'Neal S, Richardson JG, Wicklund CA.

J Genet Couns. 2018 Feb;27(1):16-20. doi: 10.1007/s10897-017-0158-8. Epub 2017 Oct 20.

PMID:
29052810
50.

Aquatic urban ecology at the scale of a capital: community structure and interactions in street gutters.

Hervé V, Leroy B, Da Silva Pires A, Lopez PJ.

ISME J. 2018 Jan;12(1):253-266. doi: 10.1038/ismej.2017.166. Epub 2017 Oct 13.

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