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Items: 1 to 50 of 73

1.

Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes.

Sun C, Song J, Jiang Y, Zhao C, Lu J, Li Y, Wang Y, Gao M, Xi J, Luo S, Li M, Donaldson K, Oprescu SN, Slavin TP, Lee S, Magoulas PL, Lewis AM, Emrick L, Lalani SR, Niu Z, Landsverk ML, Walkiewicz M, Person RE, Mei H, Rosenfeld JA, Yang Y, Antonellis A, Hou YM, Lin J, Zhang VW.

Neurol Genet. 2019 Apr 18;5(2):e565. doi: 10.1212/NXG.0000000000000316. eCollection 2019 Apr.

2.

Mesenchyme to epithelial transition protein expression, gene copy number and clinical outcome in a large non-small cell lung cancer surgical cohort.

Rivalland G, Mitchell P, Murone C, Asadi K, Morey AL, Starmans M, Boutros PC, Walkiewicz M, Solomon B, Wright G, Knight S, John T.

Transl Lung Cancer Res. 2019 Apr;8(2):167-175. doi: 10.21037/tlcr.2019.03.11.

3.

The system of values and styles of success in the medical career: A longitudinal study.

Budziński W, Walkiewicz M, Tartas M.

Int J Occup Med Environ Health. 2018 Dec 20;31(6):823-835. doi: 10.13075/ijomeh.1896.01298. Epub 2018 Dec 18.

4.

Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function.

Rehman AU, Najafi M, Kambouris M, Al-Gazali L, Makrythanasis P, Rad A, Maroofian R, Rajab A, Stark Z, Hunter JV, Bakey Z, Tokita MJ, He W, Vetrini F, Petersen A, Santoni FA, Hamamy H, Wu K, Al-Jasmi F, Helmstädter M, Arnold SJ, Xia F, Richmond C, Liu P, Karimiani EG, Karami Madani G, Lunke S, El-Shanti H, Eng CM, Antonarakis SE, Hertecant J, Walkiewicz M, Yang Y, Schmidts M.

Hum Mutat. 2019 Mar;40(3):267-280. doi: 10.1002/humu.23694. Epub 2018 Dec 25.

5.

Phenotypic expansion in DDX3X - a common cause of intellectual disability in females.

Wang X, Posey JE, Rosenfeld JA, Bacino CA, Scaglia F, Immken L, Harris JM, Hickey SE, Mosher TM, Slavotinek A, Zhang J, Beuten J, Leduc MS, He W, Vetrini F, Walkiewicz MA, Bi W, Xiao R, Liu P, Shao Y, Gezdirici A, Gulec EY, Jiang Y, Darilek SA, Hansen AW, Khayat MM, Pehlivan D, Piard J, Muzny DM, Hanchard N, Belmont JW, Van Maldergem L, Gibbs RA, Eldomery MK, Akdemir ZC, Adesina AM, Chen S, Lee YC; Undiagnosed Diseases Network, Lee B, Lupski JR, Eng CM, Xia F, Yang Y, Graham BH, Moretti P.

Ann Clin Transl Neurol. 2018 Sep 15;5(10):1277-1285. doi: 10.1002/acn3.622. eCollection 2018 Oct.

6.

Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder.

Normand EA, Braxton A, Nassef S, Ward PA, Vetrini F, He W, Patel V, Qu C, Westerfield LE, Stover S, Dharmadhikari AV, Muzny DM, Gibbs RA, Dai H, Meng L, Wang X, Xiao R, Liu P, Bi W, Xia F, Walkiewicz M, Van den Veyver IB, Eng CM, Yang Y.

Genome Med. 2018 Sep 28;10(1):74. doi: 10.1186/s13073-018-0582-x.

7.

The Rites of Passage Framework as a Matrix of Transgression Processes in the Life Course.

Janusz B, Walkiewicz M.

J Adult Dev. 2018;25(3):151-159. doi: 10.1007/s10804-018-9285-1. Epub 2018 Jan 22.

8.

Mismatch Repair Protein Defects and Microsatellite Instability in Malignant Pleural Mesothelioma.

Arulananda S, Thapa B, Walkiewicz M, Zapparoli GV, Williams DS, Dobrovic A, John T.

J Thorac Oncol. 2018 Oct;13(10):1588-1594. doi: 10.1016/j.jtho.2018.07.015. Epub 2018 Jul 26.

PMID:
30056163
9.

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.

Cheng H, Dharmadhikari AV, Varland S, Ma N, Domingo D, Kleyner R, Rope AF, Yoon M, Stray-Pedersen A, Posey JE, Crews SR, Eldomery MK, Akdemir ZC, Lewis AM, Sutton VR, Rosenfeld JA, Conboy E, Agre K, Xia F, Walkiewicz M, Longoni M, High FA, van Slegtenhorst MA, Mancini GMS, Finnila CR, van Haeringen A, den Hollander N, Ruivenkamp C, Naidu S, Mahida S, Palmer EE, Murray L, Lim D, Jayakar P, Parker MJ, Giusto S, Stracuzzi E, Romano C, Beighley JS, Bernier RA, Küry S, Nizon M, Corbett MA, Shaw M, Gardner A, Barnett C, Armstrong R, Kassahn KS, Van Dijck A, Vandeweyer G, Kleefstra T, Schieving J, Jongmans MJ, de Vries BBA, Pfundt R, Kerr B, Rojas SK, Boycott KM, Person R, Willaert R, Eichler EE, Kooy RF, Yang Y, Wu JC, Lupski JR, Arnesen T, Cooper GM, Chung WK, Gecz J, Stessman HAF, Meng L, Lyon GJ.

Am J Hum Genet. 2018 May 3;102(5):985-994. doi: 10.1016/j.ajhg.2018.03.004. Epub 2018 Apr 12.

10.

Adaptive and maladaptive perfectionism, and professional burnout among medical laboratory scientists.

Robakowska M, Tyrańska-Fobke A, Walkiewicz M, Tartas M.

Med Pr. 2018 May 22;69(3):253-260. doi: 10.13075/mp.5893.00644. Epub 2018 Apr 9.

11.

Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.

Johnston JJ, van der Smagt JJ, Rosenfeld JA, Pagnamenta AT, Alswaid A, Baker EH, Blair E, Borck G, Brinkmann J, Craigen W, Dung VC, Emrick L, Everman DB, van Gassen KL, Gulsuner S, Harr MH, Jain M, Kuechler A, Leppig KA, McDonald-McGinn DM, Can NTB, Peleg A, Roeder ER, Rogers RC, Sagi-Dain L, Sapp JC, Schäffer AA, Schanze D, Stewart H, Taylor JC, Verbeek NE, Walkiewicz MA, Zackai EH, Zweier C; Members of the Undiagnosed Diseases Network, Zenker M, Lee B, Biesecker LG.

Genet Med. 2018 Oct;20(10):1175-1185. doi: 10.1038/gim.2017.249. Epub 2018 Feb 22.

12.

Mutation in the ADNP gene associated with Noonan syndrome features.

Alkhunaizi E, Walkiewicz MA, Chitayat D.

Clin Dysmorphol. 2018 Apr;27(2):53-57. doi: 10.1097/MCD.0000000000000215. No abstract available.

PMID:
29424797
13.

Promoter hypomethylation of NY-ESO-1, association with clinicopathological features and PD-L1 expression in non-small cell lung cancer.

Chüeh AC, Liew MS, Russell PA, Walkiewicz M, Jayachandran A, Starmans MHW, Boutros PC, Wright G, Barnett SA, Mariadason JM, John T.

Oncotarget. 2017 May 23;8(43):74036-74048. doi: 10.18632/oncotarget.18198. eCollection 2017 Sep 26.

14.

Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management.

Meng L, Pammi M, Saronwala A, Magoulas P, Ghazi AR, Vetrini F, Zhang J, He W, Dharmadhikari AV, Qu C, Ward P, Braxton A, Narayanan S, Ge X, Tokita MJ, Santiago-Sim T, Dai H, Chiang T, Smith H, Azamian MS, Robak L, Bostwick BL, Schaaf CP, Potocki L, Scaglia F, Bacino CA, Hanchard NA, Wangler MF, Scott D, Brown C, Hu J, Belmont JW, Burrage LC, Graham BH, Sutton VR, Craigen WJ, Plon SE, Lupski JR, Beaudet AL, Gibbs RA, Muzny DM, Miller MJ, Wang X, Leduc MS, Xiao R, Liu P, Shaw C, Walkiewicz M, Bi W, Xia F, Lee B, Eng CM, Yang Y, Lalani SR.

JAMA Pediatr. 2017 Dec 4;171(12):e173438. doi: 10.1001/jamapediatrics.2017.3438. Epub 2017 Dec 4.

15.

Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.

Chen L, Jensik PJ, Alaimo JT, Walkiewicz M, Berger S, Roeder E, Faqeih EA, Bernstein JA, Smith ACM, Mullegama SV, Saffen DW, Elsea SH.

Hum Mutat. 2017 Dec;38(12):1774-1785. doi: 10.1002/humu.23339. Epub 2017 Sep 23.

16.

Identification of novel candidate disease genes from de novo exonic copy number variants.

Gambin T, Yuan B, Bi W, Liu P, Rosenfeld JA, Coban-Akdemir Z, Pursley AN, Nagamani SCS, Marom R, Golla S, Dengle L, Petrie HG, Matalon R, Emrick L, Proud MB, Treadwell-Deering D, Chao HT, Koillinen H, Brown C, Urraca N, Mostafavi R, Bernes S, Roeder ER, Nugent KM, Bader PI, Bellus G, Cummings M, Northrup H, Ashfaq M, Westman R, Wildin R, Beck AE, Immken L, Elton L, Varghese S, Buchanan E, Faivre L, Lefebvre M, Schaaf CP, Walkiewicz M, Yang Y, Kang SL, Lalani SR, Bacino CA, Beaudet AL, Breman AM, Smith JL, Cheung SW, Lupski JR, Patel A, Shaw CA, Stankiewicz P.

Genome Med. 2017 Sep 21;9(1):83. doi: 10.1186/s13073-017-0472-7.

17.

Clinical and molecular characterization of de novo loss of function variants in HNRNPU.

Leduc MS, Chao HT, Qu C, Walkiewicz M, Xiao R, Magoulas P, Pan S, Beuten J, He W, Bernstein JA, Schaaf CP, Scaglia F, Eng CM, Yang Y.

Am J Med Genet A. 2017 Oct;173(10):2680-2689. doi: 10.1002/ajmg.a.38388. Epub 2017 Aug 16.

PMID:
28815871
18.

Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.

Bostwick BL, McLean S, Posey JE, Streff HE, Gripp KW, Blesson A, Powell-Hamilton N, Tusi J, Stevenson DA, Farrelly E, Hudgins L, Yang Y, Xia F, Wang X, Liu P, Walkiewicz M, McGuire M, Grange DK, Andrews MV, Hummel M, Madan-Khetarpal S, Infante E, Coban-Akdemir Z, Miszalski-Jamka K, Jefferies JL; Members of the Undiagnosed Diseases Network, Rosenfeld JA, Emrick L, Nugent KM, Lupski JR, Belmont JW, Lee B, Lalani SR.

Genome Med. 2017 Aug 14;9(1):73. doi: 10.1186/s13073-017-0463-8.

19.

CORRIGENDUM: The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations.

Chen CA, Bosch DGM, Cho ScM MT, Rosenfeld JA, Shinawi M, Lewis RA, Mann J, Jayakar P, Payne K, Walsh L, Moss T, Schreiber A, Schoonveld C, Monaghan KG, Elmslie F, Douglas G, Boonstra FN, Millan F, Cremers FPM, McKnight D, Richard G, Juusola J, Kendall F, Ramsey K, Anyane-Yeboa K, Malkin E, Chung WK, Niyazov D, Pascual JM, Walkiewicz M, Veluchamy V, Li C, Hisama FM, de Vries BBA, Schaaf C.

Genet Med. 2017 Aug;19(8):962. doi: 10.1038/gim.2017.12.

PMID:
28777376
20.

Autosomal dominant distal myopathy due to a novel ACTA1 mutation.

Liewluck T, Sorenson EJ, Walkiewicz MA, Rumilla KM, Milone M.

Neuromuscul Disord. 2017 Aug;27(8):742-746. doi: 10.1016/j.nmd.2017.05.003. Epub 2017 May 5.

PMID:
28606400
21.

Lung Transplantation for FLNA-Associated Progressive Lung Disease.

Burrage LC, Guillerman RP, Das S, Singh S, Schady DA, Morris SA, Walkiewicz M, Schecter MG, Heinle JS, Lotze TE, Lalani SR, Mallory GB.

J Pediatr. 2017 Jul;186:118-123.e6. doi: 10.1016/j.jpeds.2017.03.045. Epub 2017 Apr 28.

22.

Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features.

Santiago-Sim T, Burrage LC, Ebstein F, Tokita MJ, Miller M, Bi W, Braxton AA, Rosenfeld JA, Shahrour M, Lehmann A, Cogné B, Küry S, Besnard T, Isidor B, Bézieau S, Hazart I, Nagakura H, Immken LL, Littlejohn RO, Roeder E; EuroEPINOMICS RES Consortium Autosomal Recessive working group, S. Hande Caglayan, Kara B, Hardies K, Weckhuysen S, May P, Lemke JR, Elpeleg O, Abu-Libdeh B, James KN, Silhavy JL, Issa MY, Zaki MS, Gleeson JG, Seavitt JR, Dickinson ME, Ljungberg MC, Wells S, Johnson SJ, Teboul L, Eng CM, Yang Y, Kloetzel PM, Heaney JD, Walkiewicz MA.

Am J Hum Genet. 2017 Apr 6;100(4):676-688. doi: 10.1016/j.ajhg.2017.03.001. Epub 2017 Mar 23.

23.

Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations.

Wang X, Charng WL, Chen CA, Rosenfeld JA, Al Shamsi A, Al-Gazali L, McGuire M, Mew NA, Arnold GL, Qu C, Ding Y, Muzny DM, Gibbs RA, Eng CM, Walkiewicz M, Xia F, Plon SE, Lupski JR, Schaaf CP, Yang Y.

Nat Genet. 2017 Apr;49(4):613-617. doi: 10.1038/ng.3815. Epub 2017 Mar 13.

24.

The Immune Microenvironment, Genome-wide Copy Number Aberrations, and Survival in Mesothelioma.

Thapa B, Salcedo A, Lin X, Walkiewicz M, Murone C, Ameratunga M, Asadi K, Deb S, Barnett SA, Knight S, Mitchell P, Watkins DN, Boutros PC, John T.

J Thorac Oncol. 2017 May;12(5):850-859. doi: 10.1016/j.jtho.2017.02.013. Epub 2017 Feb 28.

25.

De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.

Shashi V, Pena LDM, Kim K, Burton B, Hempel M, Schoch K, Walkiewicz M, McLaughlin HM, Cho M, Stong N, Hickey SE, Shuss CM; Undiagnosed Diseases Network, Freemark MS, Bellet JS, Keels MA, Bonner MJ, El-Dairi M, Butler M, Kranz PG, Stumpel CTRM, Klinkenberg S, Oberndorff K, Alawi M, Santer R, Petrovski S, Kuismin O, Korpi-Heikkilä S, Pietilainen O, Aarno P, Kurki MI, Hoischen A, Need AC, Goldstein DB, Kortüm F.

Am J Hum Genet. 2017 Jan 5;100(1):179. doi: 10.1016/j.ajhg.2016.12.004. No abstract available.

26.

Exome sequencing identifies de novo pathogenic variants in FBN1 and TRPS1 in a patient with a complex connective tissue phenotype.

Zastrow DB, Zornio PA, Dries A, Kohler J, Fernandez L, Waggott D, Walkiewicz M, Eng CM, Manning MA, Farrelly E; Undiagnosed Diseases Network, Fisher PG, Ashley EA, Bernstein JA, Wheeler MT.

Cold Spring Harb Mol Case Stud. 2017 Jan;3(1):a001388. doi: 10.1101/mcs.a001388.

27.

Vulnerability of medical students and professionals to extreme work stress: A select review of the literature.

Walkiewicz M, Tartas M.

Commun Med. 2017;14(2):181-187. doi: 10.1558/cam.31007. Review.

PMID:
29958356
28.

Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation.

Posey JE, Harel T, Liu P, Rosenfeld JA, James RA, Coban Akdemir ZH, Walkiewicz M, Bi W, Xiao R, Ding Y, Xia F, Beaudet AL, Muzny DM, Gibbs RA, Boerwinkle E, Eng CM, Sutton VR, Shaw CA, Plon SE, Yang Y, Lupski JR.

N Engl J Med. 2017 Jan 5;376(1):21-31. doi: 10.1056/NEJMoa1516767. Epub 2016 Dec 7.

29.

The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations.

Chen CA, Bosch DG, Cho MT, Rosenfeld JA, Shinawi M, Lewis RA, Mann J, Jayakar P, Payne K, Walsh L, Moss T, Schreiber A, Schoonveld C, Monaghan KG, Elmslie F, Douglas G, Boonstra FN, Millan F, Cremers FP, McKnight D, Richard G, Juusola J, Kendall F, Ramsey K, Anyane-Yeboa K, Malkin E, Chung WK, Niyazov D, Pascual JM, Walkiewicz M, Veluchamy V, Li C, Hisama FM, de Vries BB, Schaaf C.

Genet Med. 2016 Nov;18(11):1143-1150. doi: 10.1038/gim.2016.18. Epub 2016 Mar 17. Erratum in: Genet Med. 2017 Aug;19(8):962.

PMID:
26986877
30.

Calretinin but not caveolin-1 correlates with tumour histology and survival in malignant mesothelioma.

Thapa B, Walkiewicz M, Murone C, Asadi K, Deb S, Barnett S, Knight S, Mitchell P, Liew D, Watkins DN, John T.

Pathology. 2016 Dec;48(7):660-665. doi: 10.1016/j.pathol.2016.08.003. Epub 2016 Oct 22.

PMID:
27780599
31.

De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.

Shashi V, Pena LD, Kim K, Burton B, Hempel M, Schoch K, Walkiewicz M, McLaughlin HM, Cho M, Stong N, Hickey SE, Shuss CM; Undiagnosed Diseases Network, Freemark MS, Bellet JS, Keels MA, Bonner MJ, El-Dairi M, Butler M, Kranz PG, Stumpel CT, Klinkenberg S, Oberndorff K, Alawi M, Santer R, Petrovski S, Kuismin O, Korpi-Heikkilä S, Pietilainen O, Aarno P, Kurki MI, Hoischen A, Need AC, Goldstein DB, Kortüm F.

Am J Hum Genet. 2016 Oct 6;99(4):991-999. doi: 10.1016/j.ajhg.2016.08.017. Epub 2016 Sep 29. Erratum in: Am J Hum Genet. 2017 Jan 5;100(1):179.

32.

Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes.

Harel T, Yoon WH, Garone C, Gu S, Coban-Akdemir Z, Eldomery MK, Posey JE, Jhangiani SN, Rosenfeld JA, Cho MT, Fox S, Withers M, Brooks SM, Chiang T, Duraine L, Erdin S, Yuan B, Shao Y, Moussallem E, Lamperti C, Donati MA, Smith JD, McLaughlin HM, Eng CM, Walkiewicz M, Xia F, Pippucci T, Magini P, Seri M, Zeviani M, Hirano M, Hunter JV, Srour M, Zanigni S, Lewis RA, Muzny DM, Lotze TE, Boerwinkle E; Baylor-Hopkins Center for Mendelian Genomics; University of Washington Center for Mendelian Genomics, Gibbs RA, Hickey SE, Graham BH, Yang Y, Buhas D, Martin DM, Potocki L, Graziano C, Bellen HJ, Lupski JR.

Am J Hum Genet. 2016 Oct 6;99(4):831-845. doi: 10.1016/j.ajhg.2016.08.007. Epub 2016 Sep 15.

33.

De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms.

Weiss K, Terhal PA, Cohen L, Bruccoleri M, Irving M, Martinez AF, Rosenfeld JA, Machol K, Yang Y, Liu P, Walkiewicz M, Beuten J, Gomez-Ospina N, Haude K, Fong CT, Enns GM, Bernstein JA, Fan J, Gotway G, Ghorbani M; DDD Study, van Gassen K, Monroe GR, van Haaften G, Basel-Vanagaite L, Yang XJ, Campeau PM, Muenke M.

Am J Hum Genet. 2016 Oct 6;99(4):934-941. doi: 10.1016/j.ajhg.2016.08.001. Epub 2016 Sep 8.

34.

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders.

Stray-Pedersen A, Sorte HS, Samarakoon P, Gambin T, Chinn IK, Coban Akdemir ZH, Erichsen HC, Forbes LR, Gu S, Yuan B, Jhangiani SN, Muzny DM, Rødningen OK, Sheng Y, Nicholas SK, Noroski LM, Seeborg FO, Davis CM, Canter DL, Mace EM, Vece TJ, Allen CE, Abhyankar HA, Boone PM, Beck CR, Wiszniewski W, Fevang B, Aukrust P, Tjønnfjord GE, Gedde-Dahl T, Hjorth-Hansen H, Dybedal I, Nordøy I, Jørgensen SF, Abrahamsen TG, Øverland T, Bechensteen AG, Skogen V, Osnes LTN, Kulseth MA, Prescott TE, Rustad CF, Heimdal KR, Belmont JW, Rider NL, Chinen J, Cao TN, Smith EA, Caldirola MS, Bezrodnik L, Lugo Reyes SO, Espinosa Rosales FJ, Guerrero-Cursaru ND, Pedroza LA, Poli CM, Franco JL, Trujillo Vargas CM, Aldave Becerra JC, Wright N, Issekutz TB, Issekutz AC, Abbott J, Caldwell JW, Bayer DK, Chan AY, Aiuti A, Cancrini C, Holmberg E, West C, Burstedt M, Karaca E, Yesil G, Artac H, Bayram Y, Atik MM, Eldomery MK, Ehlayel MS, Jolles S, Flatø B, Bertuch AA, Hanson IC, Zhang VW, Wong LJ, Hu J, Walkiewicz M, Yang Y, Eng CM, Boerwinkle E, Gibbs RA, Shearer WT, Lyle R, Orange JS, Lupski JR.

J Allergy Clin Immunol. 2017 Jan;139(1):232-245. doi: 10.1016/j.jaci.2016.05.042. Epub 2016 Jul 16. Erratum in: J Allergy Clin Immunol. 2018 Feb;141(2):832.

35.

De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive.

Tokita MJ, Braxton AA, Shao Y, Lewis AM, Vincent M, Küry S, Besnard T, Isidor B, Latypova X, Bézieau S, Liu P, Motter CS, Melver CW, Robin NH, Infante EM, McGuire M, El-Gharbawy A, Littlejohn RO, McLean SD, Bi W, Bacino CA, Lalani SR, Scott DA, Eng CM, Yang Y, Schaaf CP, Walkiewicz MA.

Am J Hum Genet. 2016 Sep 1;99(3):720-727. doi: 10.1016/j.ajhg.2016.06.035. Epub 2016 Aug 18.

36.

The coping strategies during medical education predict style of success in medical career: a 10-year longitudinal study.

Tartas M, Walkiewicz M, Budziński W, Majkowicz M, Wójcikiewicz K, Zdun-Ryżewska A.

BMC Med Educ. 2016 Jul 22;16:186. doi: 10.1186/s12909-016-0706-1.

37.

Postmortem genetic screening for the identification, verification, and reporting of genetic variants contributing to the sudden death of the young.

Methner DN, Scherer SE, Welch K, Walkiewicz M, Eng CM, Belmont JW, Powell MC, Korchina V, Doddapaneni HV, Muzny DM, Gibbs RA, Wolf DA, Sanchez LA, Kahn R.

Genome Res. 2016 Sep;26(9):1170-7. doi: 10.1101/gr.195800.115. Epub 2016 Jul 19.

38.

The ethics of conducting molecular autopsies in cases of sudden death in the young.

McGuire AL, Moore Q, Majumder M, Walkiewicz M, Eng CM, Belmont JW, Nassef S, Darilek S, Rutherford K, Pereira S, Scherer SE, Sutton VR, Wolf D, Gibbs RA, Kahn R, Sanchez LA; Molecular Autopsy Consortium of Houston (MATCH).

Genome Res. 2016 Sep;26(9):1165-9. doi: 10.1101/gr.192401.115. Epub 2016 Jul 13. No abstract available.

39.

TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.

Balestrini S, Milh M, Castiglioni C, Lüthy K, Finelli MJ, Verstreken P, Cardon A, Stražišar BG, Holder JL Jr, Lesca G, Mancardi MM, Poulat AL, Repetto GM, Banka S, Bilo L, Birkeland LE, Bosch F, Brockmann K, Cross JH, Doummar D, Félix TM, Giuliano F, Hori M, Hüning I, Kayserili H, Kini U, Lees MM, Meenakshi G, Mewasingh L, Pagnamenta AT, Peluso S, Mey A, Rice GM, Rosenfeld JA, Taylor JC, Troester MM, Stanley CM, Ville D, Walkiewicz M, Falace A, Fassio A, Lemke JR, Biskup S, Tardif J, Ajeawung NF, Tolun A, Corbett M, Gecz J, Afawi Z, Howell KB, Oliver KL, Berkovic SF, Scheffer IE, de Falco FA, Oliver PL, Striano P, Zara F, Campeau PM, Sisodiya SM.

Neurology. 2016 Jul 5;87(1):77-85. doi: 10.1212/WNL.0000000000002807. Epub 2016 Jun 8.

40.

The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families.

Fountain MD, Aten E, Cho MT, Juusola J, Walkiewicz MA, Ray JW, Xia F, Yang Y, Graham BH, Bacino CA, Potocki L, van Haeringen A, Ruivenkamp CA, Mancias P, Northrup H, Kukolich MK, Weiss MM, van Ravenswaaij-Arts CM, Mathijssen IB, Levesque S, Meeks N, Rosenfeld JA, Lemke D, Hamosh A, Lewis SK, Race S, Stewart LL, Hay B, Lewis AM, Guerreiro RL, Bras JT, Martins MP, Derksen-Lubsen G, Peeters E, Stumpel C, Stegmann S, Bok LA, Santen GW, Schaaf CP.

Genet Med. 2017 Jan;19(1):45-52. doi: 10.1038/gim.2016.53. Epub 2016 May 19. Erratum in: Genet Med. 2016 Oct;18(10):1066.

41.

Identifying and targeting determinants of melanoma cellular invasion.

Jayachandran A, Prithviraj P, Lo PH, Walkiewicz M, Anaka M, Woods BL, Tan B, Behren A, Cebon J, McKeown SJ.

Oncotarget. 2016 Jul 5;7(27):41186-41202. doi: 10.18632/oncotarget.9227.

42.

PD-L1 and Tumor Infiltrating Lymphocytes as Prognostic Markers in Resected NSCLC.

Ameratunga M, Asadi K, Lin X, Walkiewicz M, Murone C, Knight S, Mitchell P, Boutros P, John T.

PLoS One. 2016 Apr 22;11(4):e0153954. doi: 10.1371/journal.pone.0153954. eCollection 2016.

43.

Transketolase-like 1 ectopic expression is associated with DNA hypomethylation and induces the Warburg effect in melanoma cells.

Jayachandran A, Lo PH, Chueh AC, Prithviraj P, Molania R, Davalos-Salas M, Anaka M, Walkiewicz M, Cebon J, Behren A.

BMC Cancer. 2016 Feb 22;16:134. doi: 10.1186/s12885-016-2185-5.

44.

POGZ truncating alleles cause syndromic intellectual disability.

White J, Beck CR, Harel T, Posey JE, Jhangiani SN, Tang S, Farwell KD, Powis Z, Mendelsohn NJ, Baker JA, Pollack L, Mason KJ, Wierenga KJ, Arrington DK, Hall M, Psychogios A, Fairbrother L, Walkiewicz M, Person RE, Niu Z, Zhang J, Rosenfeld JA, Muzny DM, Eng C, Beaudet AL, Lupski JR, Boerwinkle E, Gibbs RA, Yang Y, Xia F, Sutton VR.

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Molecular diagnostic experience of whole-exome sequencing in adult patients.

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Atypical presentation of moyamoya disease in an infant with a de novo RNF213 variant.

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Methionyl-tRNA Formyltransferase (MTFMT) Deficiency Mimicking Acquired Demyelinating Disease.

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Pregnancy associated plasma protein-A links pregnancy and melanoma progression by promoting cellular migration and invasion.

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CENP-A nucleosomes localize to transcription factor hotspots and subtelomeric sites in human cancer cells.

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The sense of coherence and styles of success in the medical career: a longitudinal study.

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