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Items: 1 to 50 of 209

1.

Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.

Shieh C, Jones N, Vanle B, Au M, Huang AY, Silva APG, Lee H, Douine ED, Otero MG, Choi A, Grand K, Taff IP, Delgado MR, Hajianpour MJ, Seeley A, Rohena L, Vernon H, Gripp KW, Vergano SA, Mahida S, Naidu S, Sousa AB, Wain KE, Challman TD, Beek G, Basel D, Ranells J, Smith R, Yusupov R, Freckmann ML, Ohden L, Davis-Keppen L, Chitayat D, Dowling JJ, Finkel R, Dauber A, Spillmann R, Pena LDM; Undiagnosed Diseases Network, Metcalfe K, Splitt M, Lachlan K, McKee SA, Hurst J, Fitzpatrick DR, Morton JEV, Cox H, Venkateswaran S, Young JI, Marsh ED, Nelson SF, Martinez JA, Graham JM Jr, Kini U, Mackay JP, Pierson TM.

Genet Med. 2020 Apr;22(4):822. doi: 10.1038/s41436-020-0760-2.

PMID:
32047287
2.

Decision-making about antidepressant medication use in pregnancy: a comparison between women making the decision in the preconception period versus in pregnancy.

Barker LC, Dennis CL, Hussain-Shamsy N, Stewart DE, Grigoriadis S, Metcalfe K, Oberlander TF, Schram C, Taylor VH, Vigod SN.

BMC Psychiatry. 2020 Feb 7;20(1):54. doi: 10.1186/s12888-020-2478-8.

3.

Interprofessional education in geriatric medicine: towards best practice. A controlled before-after study of medical and nursing students.

Thompson S, Metcalfe K, Boncey K, Merriman C, Flynn LC, Alg GS, Bothwell H, Forde-Johnston C, Puffett E, Hardy C, Wright L, Beale J.

BMJ Open. 2020 Jan 20;10(1):e018041. doi: 10.1136/bmjopen-2017-018041.

4.

GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.

Shieh C, Jones N, Vanle B, Au M, Huang AY, Silva APG, Lee H, Douine ED, Otero MG, Choi A, Grand K, Taff IP, Delgado MR, Hajianpour MJ, Seeley A, Rohena L, Vernon H, Gripp KW, Vergano SA, Mahida S, Naidu S, Sousa AB, Wain KE, Challman TD, Beek G, Basel D, Ranells J, Smith R, Yusupov R, Freckmann ML, Ohden L, Davis-Keppen L, Chitayat D, Dowling JJ, Finkel R, Dauber A, Spillmann R, Pena LDM; Undiagnosed Diseases Network, Metcalfe K, Splitt M, Lachlan K, McKee SA, Hurst J, Fitzpatrick DR, Morton JEV, Cox H, Venkateswaran S, Young JI, Marsh ED, Nelson SF, Martinez JA, Graham JM Jr, Kini U, Mackay JP, Pierson TM.

Genet Med. 2020 Jan 17. doi: 10.1038/s41436-019-0747-z. [Epub ahead of print] Erratum in: Genet Med. 2020 Feb 12;:.

PMID:
31949314
5.

Examining Predictors of Fear of Cancer Recurrence Using Leventhal's Commonsense Model: Distinct Implications for Oncology Nurses.

Galica J, Maheu C, Brennenstuhl S, Townsley C, Metcalfe K.

Cancer Nurs. 2019 Dec 20. doi: 10.1097/NCC.0000000000000760. [Epub ahead of print]

PMID:
31868820
6.

Correction: The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis.

Weiss K, Lazar HP, Kurolap A, Martinez AF, Paperna T, Cohen L, Smeland MF, Whalen S, Heide S, Keren B, Terhal P, Irving M, Takaku M, Roberts JD, Petrovich RM, Vergano SAS, Kenney A, Hove H, DeChene E, Quinonez SC, Colin E, Ziegler A, Rumple M, Jain M, Monteil D, Roeder ER, Nugent K, van Haeringen A, Gambello M, Santani A, Medne L, Krock B, Skraban CM, Zackai EH, Dubbs HA, Smol T, Ghoumid J, Parker MJ, Wright M, Turnpenny P, Clayton-Smith J, Metcalfe K, Kurumizaka H, Gelb BD, Feldman HB, Campeau PM, Muenke M, Wade PA, Lachlan K.

Genet Med. 2020 Mar;22(3):669. doi: 10.1038/s41436-019-0727-3.

PMID:
31844176
7.

Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families.

Yang X, Leslie G, Doroszuk A, Schneider S, Allen J, Decker B, Dunning AM, Redman J, Scarth J, Plaskocinska I, Luccarini C, Shah M, Pooley K, Dorling L, Lee A, Adank MA, Adlard J, Aittomäki K, Andrulis IL, Ang P, Barwell J, Bernstein JL, Bobolis K, Borg Å, Blomqvist C, Claes KBM, Concannon P, Cuggia A, Culver JO, Damiola F, de Pauw A, Diez O, Dolinsky JS, Domchek SM, Engel C, Evans DG, Fostira F, Garber J, Golmard L, Goode EL, Gruber SB, Hahnen E, Hake C, Heikkinen T, Hurley JE, Janavicius R, Kleibl Z, Kleiblova P, Konstantopoulou I, Kvist A, Laduca H, Lee ASG, Lesueur F, Maher ER, Mannermaa A, Manoukian S, McFarland R, McKinnon W, Meindl A, Metcalfe K, Mohd Taib NA, Moilanen J, Nathanson KL, Neuhausen S, Ng PS, Nguyen-Dumont T, Nielsen SM, Obermair F, Offit K, Olopade OI, Ottini L, Penkert J, Pylkäs K, Radice P, Ramus SJ, Rudaitis V, Side L, Silva-Smith R, Silvestri V, Skytte AB, Slavin T, Soukupova J, Tondini C, Trainer AH, Unzeitig G, Usha L, van Overeem Hansen T, Whitworth J, Wood M, Yip CH, Yoon SY, Yussuf A, Zogopoulos G, Goldgar D, Hopper JL, Chenevix-Trench G, Pharoah P, George SHL, Balmaña J, Houdayer C, James P, El-Haffaf Z, Ehrencrona H, Janatova M, Peterlongo P, Nevanlinna H, Schmutzler R, Teo SH, Robson M, Pal T, Couch F, Weitzel JN, Elliott A, Southey M, Winqvist R, Easton DF, Foulkes WD, Antoniou AC, Tischkowitz M.

J Clin Oncol. 2020 Mar 1;38(7):674-685. doi: 10.1200/JCO.19.01907. Epub 2019 Dec 16.

PMID:
31841383
8.

Predictors of the trajectory of cognitive functioning in the first 6 months after allogeneic hematopoietic stem cell transplantation.

Mayo SJ, Messner HA, Rourke SB, Howell D, Victor JC, Lipton JH, Kuruvilla J, Gutpa V, Kim DDH, Michelis FV, Metcalfe K.

Bone Marrow Transplant. 2019 Nov 19. doi: 10.1038/s41409-019-0746-3. [Epub ahead of print]

PMID:
31745248
9.

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
10.

The "Begin Exploring Fertility Options, Risks and Expectations" (BEFORE) decision aid: development and alpha testing of a fertility tool for premenopausal breast cancer patients.

Speller B, Metcalfe K, Kennedy ED, Facey M, Greenblatt E, Scheer AS, Warner E, Joy AA, Wright FC, Baxter NN.

BMC Med Inform Decis Mak. 2019 Oct 28;19(1):203. doi: 10.1186/s12911-019-0912-y.

11.

DSE associated musculocontractural EDS, a milder phenotype or phenotypic variability.

Schirwani S, Metcalfe K, Wagner B, Berry I, Sobey G, Jewell R.

Eur J Med Genet. 2020 Apr;63(4):103798. doi: 10.1016/j.ejmg.2019.103798. Epub 2019 Oct 23. Review.

PMID:
31655143
12.

Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia.

Vaz FM, McDermott JH, Alders M, Wortmann SB, Kölker S, Pras-Raves ML, Vervaart MAT, van Lenthe H, Luyf ACM, Elfrink HL, Metcalfe K, Cuvertino S, Clayton PE, Yarwood R, Lowe MP, Lovell S, Rogers RC; Deciphering Developmental Disorders Study, van Kampen AHC, Ruiter JPN, Wanders RJA, Ferdinandusse S, van Weeghel M, Engelen M, Banka S.

Brain. 2019 Nov 1;142(11):3382-3397. doi: 10.1093/brain/awz291.

13.

Predictors of uptake of contralateral prophylactic mastectomy in women with nonhereditary breast cancer.

Metcalfe KA, Retrouvey H, Kerrebijn I, Butler K, O'Neill AC, Cil T, Zhong T, Hofer SOP, McCready DR.

Cancer. 2019 Nov 15;125(22):3966-3973. doi: 10.1002/cncr.32405. Epub 2019 Aug 22.

PMID:
31435939
14.

The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis.

Weiss K, Lazar HP, Kurolap A, Martinez AF, Paperna T, Cohen L, Smeland MF, Whalen S, Heide S, Keren B, Terhal P, Irving M, Takaku M, Roberts JD, Petrovich RM, Schrier Vergano SA, Kenney A, Hove H, DeChene E, Quinonez SC, Colin E, Ziegler A, Rumple M, Jain M, Monteil D, Roeder ER, Nugent K, van Haeringen A, Gambello M, Santani A, Medne L, Krock B, Skraban CM, Zackai EH, Dubbs HA, Smol T, Ghoumid J, Parker MJ, Wright M, Turnpenny P, Clayton-Smith J, Metcalfe K, Kurumizaka H, Gelb BD, Baris Feldman H, Campeau PM, Muenke M, Wade PA, Lachlan K.

Genet Med. 2020 Feb;22(2):389-397. doi: 10.1038/s41436-019-0612-0. Epub 2019 Aug 7. Erratum in: Genet Med. 2019 Dec 17;:.

PMID:
31388190
15.

Predictors of mammographic density among women with a strong family history of breast cancer.

Moran O, Eisen A, Demsky R, Blackmore K, Knight JA, Panchal S, Ginsburg O, Zbuk K, Yaffe M, Metcalfe KA, Narod SA, Kotsopoulos J.

BMC Cancer. 2019 Jun 26;19(1):631. doi: 10.1186/s12885-019-5855-2.

16.

Psychosocial Functioning in Women with Early Breast Cancer Treated with Breast Surgery With or Without Immediate Breast Reconstruction.

Retrouvey H, Kerrebijn I, Metcalfe KA, O'Neill AC, McCready DR, Hofer SOP, Zhong T.

Ann Surg Oncol. 2019 Aug;26(8):2444-2451. doi: 10.1245/s10434-019-07251-9. Epub 2019 May 6.

PMID:
31062209
17.

The clinical presentation caused by truncating CHD8 variants.

Douzgou S, Liang HW, Metcalfe K, Somarathi S, Tischkowitz M, Mohamed W, Kini U, McKee S, Yates L, Bertoli M, Lynch SA, Holder S; Deciphering Developmental Disorders Study, Banka S.

Clin Genet. 2019 Jul;96(1):72-84. doi: 10.1111/cge.13554. Epub 2019 May 14.

PMID:
31001818
18.

International trends in the uptake of cancer risk reduction strategies in women with a BRCA1 or BRCA2 mutation.

Metcalfe K, Eisen A, Senter L, Armel S, Bordeleau L, Meschino WS, Pal T, Lynch HT, Tung NM, Kwong A, Ainsworth P, Karlan B, Moller P, Eng C, Weitzel JN, Sun P, Lubinski J, Narod SA; Hereditary Breast Cancer Clinical Study Group.

Br J Cancer. 2019 Jul;121(1):15-21. doi: 10.1038/s41416-019-0446-1. Epub 2019 Apr 11.

PMID:
30971774
19.

A patient decision aid for antidepressant use in pregnancy: Pilot randomized controlled trial.

Vigod SN, Hussain-Shamsy N, Stewart DE, Grigoriadis S, Metcalfe K, Oberlander TF, Schram C, Taylor VH, Dennis CL.

J Affect Disord. 2019 May 15;251:91-99. doi: 10.1016/j.jad.2019.01.051. Epub 2019 Mar 18.

PMID:
30913472
20.

An evaluation of oncofertility decision support resources among breast cancer patients and health care providers.

Speller B, Sissons A, Daly C, Facey M, Kennedy E, Metcalfe K, Baxter NN.

BMC Health Serv Res. 2019 Feb 6;19(1):101. doi: 10.1186/s12913-019-3901-z.

21.

Oestrogen receptor status and survival in women with BRCA2-associated breast cancer.

Metcalfe K, Lynch HT, Foulkes WD, Tung N, Olopade OI, Eisen A, Lerner-Ellis J, Snyder C, Kim SJ, Sun P, Narod SA.

Br J Cancer. 2019 Feb;120(4):398-403. doi: 10.1038/s41416-019-0376-y. Epub 2019 Feb 6.

22.

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.

23.

DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency.

Logan CV, Murray JE, Parry DA, Robertson A, Bellelli R, Tarnauskaitė Ž, Challis R, Cleal L, Borel V, Fluteau A, Santoyo-Lopez J; SGP Consortium, Aitman T, Barroso I, Basel D, Bicknell LS, Goel H, Hu H, Huff C, Hutchison M, Joyce C, Knox R, Lacroix AE, Langlois S, McCandless S, McCarrier J, Metcalfe KA, Morrissey R, Murphy N, Netchine I, O'Connell SM, Olney AH, Paria N, Rosenfeld JA, Sherlock M, Syverson E, White PC, Wise C, Yu Y, Zacharin M, Banerjee I, Reijns M, Bober MB, Semple RK, Boulton SJ, Rios JJ, Jackson AP.

Am J Hum Genet. 2018 Dec 6;103(6):1038-1044. doi: 10.1016/j.ajhg.2018.10.024. Epub 2018 Nov 29.

24.

The true depth of the Mediterranean plastic problem: Extreme microplastic pollution on marine turtle nesting beaches in Cyprus.

Duncan EM, Arrowsmith J, Bain C, Broderick AC, Lee J, Metcalfe K, Pikesley SK, Snape RTE, van Sebille E, Godley BJ.

Mar Pollut Bull. 2018 Nov;136:334-340. doi: 10.1016/j.marpolbul.2018.09.019. Epub 2018 Sep 22.

25.

Next-Generation Service Delivery: A Scoping Review of Patient Outcomes Associated with Alternative Models of Genetic Counseling and Genetic Testing for Hereditary Cancer.

McCuaig JM, Armel SR, Care M, Volenik A, Kim RH, Metcalfe KA.

Cancers (Basel). 2018 Nov 13;10(11). pii: E435. doi: 10.3390/cancers10110435. Review.

26.

Effects of bilateral salpingo-oophorectomy on menopausal symptoms and sexual functioning among women with a BRCA1 or BRCA2 mutation.

Hall E, Finch A, Jacobson M, Rosen B, Metcalfe K, Sun P, Narod SA, Kotsopoulos J.

Gynecol Oncol. 2019 Jan;152(1):145-150. doi: 10.1016/j.ygyno.2018.10.040. Epub 2018 Nov 7.

PMID:
30414741
27.

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;:.

28.

Reply to 'Mutations in RECQL are not associated with breast cancer risk in an Australian population'.

Ahmed H, Lerner-Ellis J, Cybulski C, Metcalfe K, Lubiński J, Narod SA, Akbari MR.

Nat Genet. 2018 Oct;50(10):1348-1349. doi: 10.1038/s41588-018-0233-6. No abstract available.

PMID:
30224648
29.

Real-world health services utilisation and outcomes after BRCA1 and BRCA2 testing in Ontario, Canada: the What Comes Next Cohort Study protocol.

Dossa F, Cusimano MC, Sutradhar R, Metcalfe K, Little T, Lerner-Ellis J, Eisen A, Meschino WS, Baxter NN.

BMJ Open. 2018 Sep 4;8(9):e025317. doi: 10.1136/bmjopen-2018-025317.

30.

Corrigendum to "Childhood-onset generalized epilepsy in Bainbridge-Ropers syndrome" [Epilepsy Res. 140 (2018) 166-170].

Myers KA, White SM, Mohammed S, Metcalfe KA, Fry AE, Wraige E, Vasudevan PC, Balasubramanian M, Scheffer IE.

Epilepsy Res. 2018 Nov;147:121. doi: 10.1016/j.eplepsyres.2018.07.019. Epub 2018 Aug 10. No abstract available.

PMID:
30104120
31.

Examining the dimensionality of the Fear of Cancer Recurrence Inventory.

Galica J, Brennenstuhl S, Maheu C, Townsley C, Metcalfe K.

Psychooncology. 2018 Nov;27(11):2602-2608. doi: 10.1002/pon.4839. Epub 2018 Aug 9.

PMID:
29998546
32.

Uptake of Preimplantation Genetic Diagnosis in Female BRCA1 and BRCA2 Mutation Carriers.

Mor P, Brennenstuhl S, Metcalfe KA.

J Genet Couns. 2018 Dec;27(6):1386-1394. doi: 10.1007/s10897-018-0264-2. Epub 2018 Jun 1.

PMID:
29858758
33.

Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment.

Ashraf S, Kudo H, Rao J, Kikuchi A, Widmeier E, Lawson JA, Tan W, Hermle T, Warejko JK, Shril S, Airik M, Jobst-Schwan T, Lovric S, Braun DA, Gee HY, Schapiro D, Majmundar AJ, Sadowski CE, Pabst WL, Daga A, van der Ven AT, Schmidt JM, Low BC, Gupta AB, Tripathi BK, Wong J, Campbell K, Metcalfe K, Schanze D, Niihori T, Kaito H, Nozu K, Tsukaguchi H, Tanaka R, Hamahira K, Kobayashi Y, Takizawa T, Funayama R, Nakayama K, Aoki Y, Kumagai N, Iijima K, Fehrenbach H, Kari JA, El Desoky S, Jalalah S, Bogdanovic R, Stajić N, Zappel H, Rakhmetova A, Wassmer SR, Jungraithmayr T, Strehlau J, Kumar AS, Bagga A, Soliman NA, Mane SM, Kaufman L, Lowy DR, Jairajpuri MA, Lifton RP, Pei Y, Zenker M, Kure S, Hildebrandt F.

Nat Commun. 2018 May 17;9(1):1960. doi: 10.1038/s41467-018-04193-w.

34.

Polε Instability Drives Replication Stress, Abnormal Development, and Tumorigenesis.

Bellelli R, Borel V, Logan C, Svendsen J, Cox DE, Nye E, Metcalfe K, O'Connell SM, Stamp G, Flynn HR, Snijders AP, Lassailly F, Jackson A, Boulton SJ.

Mol Cell. 2018 May 17;70(4):707-721.e7. doi: 10.1016/j.molcel.2018.04.008. Epub 2018 May 10.

35.

Genetic testing for young women with breast cancer.

Metcalfe K, Akbari MR, Narod SA.

Lancet Oncol. 2018 Apr;19(4):e182. doi: 10.1016/S1470-2045(18)30162-1. No abstract available.

PMID:
29611519
36.

The involvement of older inpatients in medical student education.

Aquilina T, Thompson SM, Metcalfe KHM, Hughes H, Sinclair L, Batt F.

Eur Geriatr Med. 2018;9(1):77-82. doi: 10.1007/s41999-017-0023-1. Epub 2018 Jan 24.

37.

Childhood-onset generalized epilepsy in Bainbridge-Ropers syndrome.

Myers KA, White SM, Mohammed S, Metcalfe KA, Fry AE, Wraige E, Vasudevan PC, Balasubramanian M, Scheffer IE.

Epilepsy Res. 2018 Feb;140:166-170. doi: 10.1016/j.eplepsyres.2018.01.014. Epub 2018 Feb 3. Erratum in: Epilepsy Res. 2018 Aug 10;:.

PMID:
29367179
38.

The risk of breast cancer in BRCA1 and BRCA2 mutation carriers without a first-degree relative with breast cancer.

Metcalfe KA, Lubinski J, Gronwald J, Huzarski T, McCuaig J, Lynch HT, Karlan B, Foulkes WD, Singer CF, Neuhausen SL, Senter L, Eisen A, Sun P, Narod SA; Hereditary Breast Cancer Clinical Study Group.

Clin Genet. 2018 May;93(5):1063-1068. doi: 10.1111/cge.13191. Epub 2018 Mar 25.

PMID:
29206279
39.

Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability.

Hamilton MJ, Caswell RC, Canham N, Cole T, Firth HV, Foulds N, Heimdal K, Hobson E, Houge G, Joss S, Kumar D, Lampe AK, Maystadt I, McKay V, Metcalfe K, Newbury-Ecob R, Park SM, Robert L, Rustad CF, Wakeling E, Wilkie AOM, Study TDDD, Twigg SRF, Suri M.

J Med Genet. 2018 Jan;55(1):28-38. doi: 10.1136/jmedgenet-2017-104620. Epub 2017 Oct 11.

40.

Development and testing of a decision aid for women considering delayed breast reconstruction.

Metcalfe K, Zhong T, O'Neill AC, McCready D, Chan L, Butler K, Brennenstuhl S, Hofer SOP.

J Plast Reconstr Aesthet Surg. 2018 Mar;71(3):318-326. doi: 10.1016/j.bjps.2017.08.027. Epub 2017 Sep 12.

PMID:
28958567
41.

Hypoglycaemia represents a clinically significant manifestation of PIK3CA- and CCND2-associated segmental overgrowth.

McDermott JH, Hickson N, Banerjee I, Murray PG, Ram D, Metcalfe K, Clayton-Smith J, Douzgou S.

Clin Genet. 2018 Mar;93(3):687-692. doi: 10.1111/cge.13145. Epub 2018 Feb 5.

PMID:
28941273
42.

Breast Cancer Genetics for Plastic Surgeons.

McInerney NM, Narod S, Metcalfe K, Semple J, Brown MH.

Plast Reconstr Surg. 2017 Sep;140(3):455-460. doi: 10.1097/PRS.0000000000003577. Review.

PMID:
28841602
43.

Preferences for breast cancer risk reduction among BRCA1/BRCA2 mutation carriers: a discrete-choice experiment.

Liede A, Mansfield CA, Metcalfe KA, Price MA; Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer, Snyder C, Lynch HT, Friedman S, Amelio J, Posner J, Narod SA, Lindeman GJ, Evans DG.

Breast Cancer Res Treat. 2017 Sep;165(2):433-444. doi: 10.1007/s10549-017-4332-3. Epub 2017 Jun 17.

44.

Survival Differences in Women with and without Autologous Breast Reconstruction after Mastectomy for Breast Cancer.

L Semple J, Metcalfe K, Shoukat F, Sun P, Narod S.

Plast Reconstr Surg Glob Open. 2017 Apr 3;5(4):e1281. doi: 10.1097/GOX.0000000000001281. eCollection 2017 Apr.

45.

Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases.

Symonds JD, Joss S, Metcalfe KA, Somarathi S, Cruden J, Devlin AM, Donaldson A, DiDonato N, Fitzpatrick D, Kaiser FJ, Lampe AK, Lees MM, McLellan A, Montgomery T, Mundada V, Nairn L, Sarkar A, Schallner J, Pozojevic J, Parenti I, Tan J, Turnpenny P, Whitehouse WP; DDD Study, Zuberi SM.

Epilepsia. 2017 Apr;58(4):565-575. doi: 10.1111/epi.13669. Epub 2017 Feb 6.

46.

Why Some Mastectomy Patients Opt to Undergo Delayed Breast Reconstruction: Results of a Long-Term Prospective Study.

Metcalfe KA, Semple J, Quan ML, Holloway C, Wright F, Narod S, Hofer S, Bagher S, Zhong T.

Plast Reconstr Surg. 2017 Feb;139(2):267-275. doi: 10.1097/PRS.0000000000002943.

PMID:
28121851
47.

Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature.

Balasubramanian M, Willoughby J, Fry AE, Weber A, Firth HV, Deshpande C, Berg JN, Chandler K, Metcalfe KA, Lam W, Pilz DT, Tomkins S.

J Med Genet. 2017 Aug;54(8):537-543. doi: 10.1136/jmedgenet-2016-104360. Epub 2017 Jan 18. Review.

48.

Four generations of SDHB-related disease: complexities in management.

Srirangalingam U, LeCain M, Tufton N, Akker SA, Drake WM, Metcalfe K.

Fam Cancer. 2017 Apr;16(2):279-282. doi: 10.1007/s10689-016-9946-9.

49.

Revisiting breast cancer patients who previously tested negative for BRCA mutations using a 12-gene panel.

Moran O, Nikitina D, Royer R, Poll A, Metcalfe K, Narod SA, Akbari MR, Kotsopoulos J.

Breast Cancer Res Treat. 2017 Jan;161(1):135-142. doi: 10.1007/s10549-016-4038-y. Epub 2016 Oct 31.

PMID:
27798748
50.

Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia.

Broix L, Jagline H, Ivanova E, Schmucker S, Drouot N, Clayton-Smith J, Pagnamenta AT, Metcalfe KA, Isidor B, Louvier UW, Poduri A, Taylor JC, Tilly P, Poirier K, Saillour Y, Lebrun N, Stemmelen T, Rudolf G, Muraca G, Saintpierre B, Elmorjani A; Deciphering Developmental Disorders study, Moïse M, Weirauch NB, Guerrini R, Boland A, Olaso R, Masson C, Tripathy R, Keays D, Beldjord C, Nguyen L, Godin J, Kini U, Nischké P, Deleuze JF, Bahi-Buisson N, Sumara I, Hinckelmann MV, Chelly J.

Nat Genet. 2016 Nov;48(11):1349-1358. doi: 10.1038/ng.3676. Epub 2016 Oct 3.

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