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Using digital pathology to understand epithelial characteristics of benign breast disease among women undergoing diagnostic image-guided breast biopsy.

Mullooly M, Puvanesarajah S, Fan S, Pfeiffer RM, Olsson LT, Hada M, Kirk EL, Vacek PM, Weaver DL, Shepherd J, Mahmoudzadeh A, Wang J, Malkov S, Johnson JM, Hewitt SM, Herschorn SD, Sherman ME, Troester MA, Gierach GL.

Cancer Prev Res (Phila). 2019 Oct 23. pii: canprevres.0120.2019. doi: 10.1158/1940-6207.CAPR-19-0120. [Epub ahead of print]


Bimodal age distribution at diagnosis in breast cancer persists across molecular and genomic classifications.

Allott EH, Shan Y, Chen M, Sun X, Garcia-Recio S, Kirk EL, Olshan AF, Geradts J, Earp HS, Carey LA, Perou CM, Pfeiffer RM, Anderson WF, Troester MA.

Breast Cancer Res Treat. 2019 Sep 18. doi: 10.1007/s10549-019-05442-2. [Epub ahead of print]


Triaging women with a pregnancy of unknown location using a two-step triage protocol including the M6 model: a clinical implementation study.

Bobdiwala S, Christodoulou E, Farren J, Mitchell-Jones N, Kyriacou C, Al-Memar M, Ayim F, Chohan B, Kirk E, Abughazza O, Guruwadahyarhalli B, Guha S, Vathanan V, Bottomley C, Gould D, Stalder C, Timmerman D, Van Calster B, Bourne T.

Ultrasound Obstet Gynecol. 2019 Aug 6. doi: 10.1002/uog.20420. [Epub ahead of print]


Effect of knee joint position on triceps surae motor unit recruitment and firing rates.

Hali K, Kirk EA, Rice CL.

Exp Brain Res. 2019 Sep;237(9):2345-2352. doi: 10.1007/s00221-019-05570-7. Epub 2019 Jul 10.


Vascular density of histologically benign breast tissue from women with breast cancer: associations with tissue composition and tumor characteristics.

Fuller AM, Olsson LT, Midkiff BR, Kirk EL, McNaughton KK, Calhoun BC, Troester MA.

Hum Pathol. 2019 Sep;91:43-51. doi: 10.1016/j.humpath.2019.06.003. Epub 2019 Jul 2.


Preconception and antenatal carrier screening for genetic conditions: The critical role of general practitioners.

Delatycki MB, Laing NG, Moore SJ, Emery J, Archibald AD, Massie J, Kirk EP.

Aust J Gen Pract. 2019 Mar;48(3):106-110. doi: 10.31128/AJGP-10-18-4725.


Human motor unit characteristics of the superior trapezius muscle with age-related comparisons.

Kirk EA, Gilmore KJ, Stashuk DW, Doherty TJ, Rice CL.

J Neurophysiol. 2019 Aug 1;122(2):823-832. doi: 10.1152/jn.00138.2019. Epub 2019 Jun 26.


Mutations in GDF11 and the extracellular antagonist, Follistatin, as a likely cause of Mendelian forms of orofacial clefting in humans.

Cox TC, Lidral AC, McCoy JC, Liu H, Cox LL, Zhu Y, Anderson RD, Moreno Uribe LM, Anand D, Deng M, Richter CT, Nidey NL, Standley JM, Blue EE, Chong JX, Smith JD, Kirk EP, Venselaar H, Krahn KN, van Bokhoven H, Zhou H, Cornell RA, Glass IA, Bamshad MJ, Nickerson DA, Murray JC, Lachke SA, Thompson TB, Buckley MF, Roscioli T.

Hum Mutat. 2019 Oct;40(10):1813-1825. doi: 10.1002/humu.23793. Epub 2019 Jun 18.


Glibenclamide treatment in a Cantú syndrome patient with a pathogenic ABCC9 gain-of-function variant: Initial experience.

Ma A, Gurnasinghani S, Kirk EP, McClenaghan C, Singh GK, Grange DK, Pandit C, Zhu Y, Roscioli T, Elakis G, Buckley M, Mehta B, Roberts P, Mervis J, Biggin A, Nichols CG.

Am J Med Genet A. 2019 Aug;179(8):1585-1590. doi: 10.1002/ajmg.a.61200. Epub 2019 Jun 7.


Pathogenic variants in PLOD3 result in a Stickler syndrome-like connective tissue disorder with vascular complications.

Ewans LJ, Colley A, Gaston-Massuet C, Gualtieri A, Cowley MJ, McCabe MJ, Anand D, Lachke SA, Scietti L, Forneris F, Zhu Y, Ying K, Walsh C, Kirk EP, Miller D, Giunta C, Sillence D, Dinger M, Buckley M, Roscioli T.

J Med Genet. 2019 Sep;56(9):629-638. doi: 10.1136/jmedgenet-2019-106019. Epub 2019 May 25.


Development and validation of the Body Understanding Measure for Pregnancy Scale (BUMPS) and its role in antenatal attachment.

Kirk E, Preston C.

Psychol Assess. 2019 Sep;31(9):1092-1106. doi: 10.1037/pas0000736. Epub 2019 May 23.


Predicting residual feed intake status using rumen microbial profiles in ewe lambs1.

Ellison MJ, Conant GC, Lamberson WR, Austin KJ, van Kirk E, Cunningham HC, Rule DC, Cammack KM.

J Anim Sci. 2019 Jul 2;97(7):2878-2888. doi: 10.1093/jas/skz170.


Personal genomic screening: How best to facilitate preparedness of future clients.

Fleming J, Terrill B, Dziadek M, Kirk EP, Roscioli T, Barlow-Stewart K.

Eur J Med Genet. 2019 May;62(5):397-404. doi: 10.1016/j.ejmg.2019.05.006. Epub 2019 May 11.


User Acceptability of Whole Exome Reproductive Carrier Testing for Consanguineous Couples in Australia.

Josephi-Taylor S, Barlow-Stewart K, Selvanathan A, Roscioli T, Bittles A, Meiser B, Worgan L, Rajagopalan S, Colley A, Kirk EP.

J Genet Couns. 2019 Apr;28(2):240-250. doi: 10.1007/s10897-018-0298-5. Epub 2018 Dec 14.


De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-progressive Neurocognitive Syndrome.

Palmer EE, Hong S, Al Zahrani F, Hashem MO, Aleisa FA, Jalal Ahmed HM, Kandula T, Macintosh R, Minoche AE, Puttick C, Gayevskiy V, Drew AP, Cowley MJ, Dinger M, Rosenfeld JA, Xiao R, Cho MT, Yakubu SF, Henderson LB, Guillen Sacoto MJ, Begtrup A, Hamad M, Shinawi M, Andrews MV, Jones MC, Lindstrom K, Bristol RE, Kayani S, Snyder M, Villanueva MM, Schteinschnaider A, Faivre L, Thauvin C, Vitobello A, Roscioli T, Kirk EP, Bye A, Merzaban J, Jaremko Ł, Jaremko M, Sachdev RK, Alkuraya FS, Arold ST.

Am J Hum Genet. 2019 Apr 4;104(4):778. doi: 10.1016/j.ajhg.2019.03.016. Epub 2019 Mar 28. No abstract available.


Chirally coupled nanomagnets.

Luo Z, Dao TP, Hrabec A, Vijayakumar J, Kleibert A, Baumgartner M, Kirk E, Cui J, Savchenko T, Krishnaswamy G, Heyderman LJ, Gambardella P.

Science. 2019 Mar 29;363(6434):1435-1439. doi: 10.1126/science.aau7913.


Factors Associated with Having a Will, Power of Attorney, and Advanced Healthcare Directive in Patients Presenting to a Rural and Remote Memory Clinic.

Lee S, Kirk A, Kirk EA, Karunanayake C, O'Connell ME, Morgan D.

Can J Neurol Sci. 2019 May;46(3):319-330. doi: 10.1017/cjn.2019.10. Epub 2019 Mar 25.


De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome.

Palmer EE, Hong S, Al Zahrani F, Hashem MO, Aleisa FA, Ahmed HMJ, Kandula T, Macintosh R, Minoche AE, Puttick C, Gayevskiy V, Drew AP, Cowley MJ, Dinger M, Rosenfeld JA, Xiao R, Cho MT, Yakubu SF, Henderson LB, Guillen Sacoto MJ, Begtrup A, Hamad M, Shinawi M, Andrews MV, Jones MC, Lindstrom K, Bristol RE, Kayani S, Snyder M, Villanueva MM, Schteinschnaider A, Faivre L, Thauvin C, Vitobello A, Roscioli T, Kirk EP, Bye A, Merzaban J, Jaremko Ł, Jaremko M, Sachdev RK, Alkuraya FS, Arold ST.

Am J Hum Genet. 2019 Mar 7;104(3):542-552. doi: 10.1016/j.ajhg.2019.01.013. Epub 2019 Feb 28. Erratum in: Am J Hum Genet. 2019 Apr 4;104(4):778.


Hormone therapy use and breast tissue DNA methylation: analysis of epigenome wide data from the normal breast study.

Harlid S, Xu Z, Kirk E, Wilson LE, Troester MA, Taylor JA.

Epigenetics. 2019 Feb;14(2):146-157. doi: 10.1080/15592294.2019.1580111. Epub 2019 Mar 1.


Case report of a child bearing a novel deleterious splicing variant in PIGT.

Mason S, Castilla-Vallmanya L, James C, Andrews PI, Balcells S, Grinberg D, Kirk EP, Urreizti R.

Medicine (Baltimore). 2019 Feb;98(8):e14524. doi: 10.1097/MD.0000000000014524.


Expanded reproductive carrier screening-how can we do the most good and cause the least harm?

Delatycki MB, Laing N, Kirk E.

Eur J Hum Genet. 2019 May;27(5):669-670. doi: 10.1038/s41431-019-0356-y. Epub 2019 Feb 13. No abstract available.


Transsexuals' Right to Health? A Cuban Case Study.

Kirk EJ, Huish R.

Health Hum Rights. 2018 Dec;20(2):215-222.


Response to "An objective criterion for stimulation intensity may be necessary to properly assess muscle contractile properties".

Kirk EA, Gilmore KJ, Rice CL.

J Neurophysiol. 2018 Dec 1;120(6):3288. doi: 10.1152/jn.00743.2018. No abstract available.


ATP2A2 rs3026468 does not associate with quadriceps contractile properties and acute muscle potentiation in humans.

Kirk EA, Singh SM, Rice CL.

Physiol Genomics. 2019 Jan 1;51(1):10-11. doi: 10.1152/physiolgenomics.00085.2018. Epub 2018 Dec 7.


Corrigendum to "New adapiform primate of Old World affinities from the Devil's Graveyard Formation of Texas" [J Hum Evol 61 (2011) 156-168].

Kirk EC, Williams BA.

J Hum Evol. 2018 Dec;125:1. doi: 10.1016/j.jhevol.2018.08.008. Epub 2018 Sep 27. No abstract available.


A Primate-Specific Isoform of PLEKHG6 Regulates Neurogenesis and Neuronal Migration.

O'Neill AC, Kyrousi C, Klaus J, Leventer RJ, Kirk EP, Fry A, Pilz DT, Morgan T, Jenkins ZA, Drukker M, Berkovic SF, Scheffer IE, Guerrini R, Markie DM, Götz M, Cappello S, Robertson SP.

Cell Rep. 2018 Dec 4;25(10):2729-2741.e6. doi: 10.1016/j.celrep.2018.11.029.


Response to Suthers and Mina.

Kirk EP, Barlow-Stewart K, Josephi-Taylor S, Roscioli T.

Genet Med. 2019 May;21(5):1258. doi: 10.1038/s41436-018-0318-8. Epub 2018 Oct 16. No abstract available.


Identification of clinically actionable variants from genome sequencing of families with congenital heart disease.

Alankarage D, Ip E, Szot JO, Munro J, Blue GM, Harrison K, Cuny H, Enriquez A, Troup M, Humphreys DT, Wilson M, Harvey RP, Sholler GF, Graham RM, Ho JWK, Kirk EP, Pachter N, Chapman G, Winlaw DS, Giannoulatou E, Dunwoodie SL.

Genet Med. 2019 May;21(5):1111-1120. doi: 10.1038/s41436-018-0296-x. Epub 2018 Oct 8.


User Acceptability of Whole Exome Reproductive Carrier Testing for Consanguineous Couples in Australia.

Josephi-Taylor S, Barlow-Stewart K, Selvanathan A, Roscioli T, Bittles A, Meiser B, Worgan L, Rajagopalan S, Colley A, Kirk EP.

J Genet Couns. 2018 Sep 5. doi: 10.1007/s10897-018-0298-5. [Epub ahead of print]


Genetic variation affecting DNA methylation and the human imprinting disorder, Beckwith-Wiedemann syndrome.

Dagar V, Hutchison W, Muscat A, Krishnan A, Hoke D, Buckle A, Siswara P, Amor DJ, Mann J, Pinner J, Colley A, Wilson M, Sachdev R, McGillivray G, Edwards M, Kirk E, Collins F, Jones K, Taylor J, Hayes I, Thompson E, Barnett C, Haan E, Freckmann ML, Turner A, White S, Kamien B, Ma A, Mackenzie F, Baynam G, Kiraly-Borri C, Field M, Dudding-Byth T, Algar EM.

Clin Epigenetics. 2018 Aug 30;10(1):114. doi: 10.1186/s13148-018-0546-4.


New middle Eocene omomyines (Primates, Haplorhini) from San Diego County, California.

Atwater AL, Kirk EC.

J Hum Evol. 2018 Nov;124:7-24. doi: 10.1016/j.jhevol.2018.04.010. Epub 2018 Aug 24.


Beyond the panel: preconception screening in consanguineous couples using the TruSight One "clinical exome".

Kirk EP, Barlow-Stewart K, Selvanathan A, Josephi-Taylor S, Worgan L, Rajagopalan S, Cowley MJ, Gayevskiy V, Bittles A, Burnett L, Elakis G, Lo W, Buckley M, Colley A, Roscioli T.

Genet Med. 2019 Mar;21(3):608-612. doi: 10.1038/s41436-018-0082-9. Epub 2018 Jul 2.


Contingency Training Alters Neurobiological Components of Emotional Resilience in Male and Female Rats.

Kent M, Scott S, Lambert S, Kirk E, Terhune-Cotter B, Thompson B, Neal S, Dozier B, Bardi M, Lambert K.

Neuroscience. 2018 Aug 21;386:121-136. doi: 10.1016/j.neuroscience.2018.06.010. Epub 2018 Jun 19.


Unexpected field-induced dynamics in magnetostrictive microstructured elements under isotropic strain.

Finizio S, Wintz S, Gliga S, Kirk E, Suszka AK, Wohlhüter P, Zeissler K, Raabe J.

J Phys Condens Matter. 2018 Aug 8;30(31):314001. doi: 10.1088/1361-648X/aacddd. Epub 2018 Jun 20.


Genetic burden and associations with adverse neurodevelopment in neonates with congenital heart disease.

Blue GM, Ip E, Walker K, Kirk EP, Loughran-Fowlds A, Sholler GF, Dunwoodie SL, Harvey RP, Giannoulatou E, Badawi N, Winlaw DS.

Am Heart J. 2018 Jul;201:33-39. doi: 10.1016/j.ahj.2018.03.021. Epub 2018 Apr 5.


Intra-individual Gene Expression Variability of Histologically Normal Breast Tissue.

Sun X, Shan Y, Li Q, Chollet-Hinton L, Kirk EL, Gierach GL, Troester MA.

Sci Rep. 2018 Jun 14;8(1):9137. doi: 10.1038/s41598-018-27505-y.


Mutations in the Epithelial Cadherin-p120-Catenin Complex Cause Mendelian Non-Syndromic Cleft Lip with or without Cleft Palate.

Cox LL, Cox TC, Moreno Uribe LM, Zhu Y, Richter CT, Nidey N, Standley JM, Deng M, Blue E, Chong JX, Yang Y, Carstens RP, Anand D, Lachke SA, Smith JD, Dorschner MO, Bedell B, Kirk E, Hing AV, Venselaar H, Valencia-Ramirez LC, Bamshad MJ, Glass IA, Cooper JA, Haan E, Nickerson DA, van Bokhoven H, Zhou H, Krahn KN, Buckley MF, Murray JC, Lidral AC, Roscioli T.

Am J Hum Genet. 2018 Jun 7;102(6):1143-1157. doi: 10.1016/j.ajhg.2018.04.009. Epub 2018 May 24.


Variants in ACTG2 underlie a substantial number of Australasian patients with primary chronic intestinal pseudo-obstruction.

Ravenscroft G, Pannell S, O'Grady G, Ong R, Ee HC, Faiz F, Marns L, Goel H, Kumarasinghe P, Sollis E, Sivadorai P, Wilson M, Magoffin A, Nightingale S, Freckmann ML, Kirk EP, Sachdev R, Lemberg DA, Delatycki MB, Kamm MA, Basnayake C, Lamont PJ, Amor DJ, Jones K, Schilperoort J, Davis MR, Laing NG.

Neurogastroenterol Motil. 2018 Sep;30(9):e13371. doi: 10.1111/nmo.13371. Epub 2018 May 21.


Correlated metabolomic, genomic, and histologic phenotypes in histologically normal breast tissue.

Sun X, Stewart DA, Sandhu R, Kirk EL, Pathmasiri WW, McRitchie SL, Clark RF, Troester MA, Sumner SJ.

PLoS One. 2018 Apr 18;13(4):e0193792. doi: 10.1371/journal.pone.0193792. eCollection 2018.


Neuromuscular changes of the aged human hamstrings.

Kirk EA, Gilmore KJ, Rice CL.

J Neurophysiol. 2018 Aug 1;120(2):480-488. doi: 10.1152/jn.00794.2017. Epub 2018 Apr 18.


PAM50 and Risk of Recurrence Scores for Interval Breast Cancers.

Puvanesarajah S, Nyante SJ, Kuzmiak CM, Chen M, Tse CK, Sun X, Allott EH, Kirk EL, Carey LA, Perou CM, Olshan AF, Henderson LM, Troester MA.

Cancer Prev Res (Phila). 2018 Jun;11(6):327-336. doi: 10.1158/1940-6207.CAPR-17-0368. Epub 2018 Apr 5.


Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders.

Ewans LJ, Schofield D, Shrestha R, Zhu Y, Gayevskiy V, Ying K, Walsh C, Lee E, Kirk EP, Colley A, Ellaway C, Turner A, Mowat D, Worgan L, Freckmann ML, Lipke M, Sachdev R, Miller D, Field M, Dinger ME, Buckley MF, Cowley MJ, Roscioli T.

Genet Med. 2018 Dec;20(12):1564-1574. doi: 10.1038/gim.2018.39. Epub 2018 Mar 29.


Mob2 Insufficiency Disrupts Neuronal Migration in the Developing Cortex.

O'Neill AC, Kyrousi C, Einsiedler M, Burtscher I, Drukker M, Markie DM, Kirk EP, Götz M, Robertson SP, Cappello S.

Front Cell Neurosci. 2018 Mar 12;12:57. doi: 10.3389/fncel.2018.00057. eCollection 2018.


Tell me once, tell me soon: parents' preferences for clinical genetics services for congenital heart disease.

Kasparian NA, De Abreu Lourenco R, Winlaw DS, Sholler GF, Viney R, Kirk EPE.

Genet Med. 2018 Nov;20(11):1387-1395. doi: 10.1038/gim.2018.16. Epub 2018 Mar 1.


A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures.

Gennarino VA, Palmer EE, McDonell LM, Wang L, Adamski CJ, Koire A, See L, Chen CA, Schaaf CP, Rosenfeld JA, Panzer JA, Moog U, Hao S, Bye A, Kirk EP, Stankiewicz P, Breman AM, McBride A, Kandula T, Dubbs HA, Macintosh R, Cardamone M, Zhu Y, Ying K, Dias KR, Cho MT, Henderson LB, Baskin B, Morris P, Tao J, Cowley MJ, Dinger ME, Roscioli T, Caluseriu O, Suchowersky O, Sachdev RK, Lichtarge O, Tang J, Boycott KM, Holder JL Jr, Zoghbi HY.

Cell. 2018 Feb 22;172(5):924-936.e11. doi: 10.1016/j.cell.2018.02.006.


Stroma modifies relationships between risk factor exposure and age-related epithelial involution in benign breast.

Chollet-Hinton L, Puvanesarajah S, Sandhu R, Kirk EL, Midkiff BR, Ghosh K, Brandt KR, Scott CG, Gierach GL, Sherman ME, Vachon CM, Troester MA.

Mod Pathol. 2018 Jul;31(7):1085-1096. doi: 10.1038/s41379-018-0033-7. Epub 2018 Feb 20.


Frequency of breast cancer subtypes among African American women in the AMBER consortium.

Allott EH, Geradts J, Cohen SM, Khoury T, Zirpoli GR, Bshara W, Davis W, Omilian A, Nair P, Ondracek RP, Cheng TD, Miller CR, Hwang H, Thorne LB, O'Connor S, Bethea TN, Bell ME, Hu Z, Li Y, Kirk EL, Sun X, Ruiz-Narvaez EA, Perou CM, Palmer JR, Olshan AF, Ambrosone CB, Troester MA.

Breast Cancer Res. 2018 Feb 6;20(1):12. doi: 10.1186/s13058-018-0939-5.


The mindedness of maternal touch: An investigation of maternal mind-mindedness and mother-infant touch interactions.

Crucianelli L, Wheatley L, Filippetti ML, Jenkinson PM, Kirk E, Fotopoulou AK.

Dev Cogn Neurosci. 2019 Feb;35:47-56. doi: 10.1016/j.dcn.2018.01.010. Epub 2018 Jan 31.


Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness.

Palmer EE, Schofield D, Shrestha R, Kandula T, Macintosh R, Lawson JA, Andrews I, Sampaio H, Johnson AM, Farrar MA, Cardamone M, Mowat D, Elakis G, Lo W, Zhu Y, Ying K, Morris P, Tao J, Dias KR, Buckley M, Dinger ME, Cowley MJ, Roscioli T, Kirk EP, Bye A, Sachdev RK.

Mol Genet Genomic Med. 2018 Mar;6(2):186-199. doi: 10.1002/mgg3.355. Epub 2018 Jan 4.

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