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Items: 1 to 20 of 109

1.

A De Novo Mutation in the Sodium-Activated Potassium Channel KCNT2 Alters Ion Selectivity and Causes Epileptic Encephalopathy.

Gururaj S, Palmer EE, Sheehan GD, Kandula T, Macintosh R, Ying K, Morris P, Tao J, Dias KR, Zhu Y, Dinger ME, Cowley MJ, Kirk EP, Roscioli T, Sachdev R, Duffey ME, Bye A, Bhattacharjee A.

Cell Rep. 2017 Oct 24;21(4):926-933. doi: 10.1016/j.celrep.2017.09.088.

2.

Late-Onset Non-HLH Presentations of Growth Arrest, Inflammatory Arachnoiditis, and Severe Infectious Mononucleosis, in Siblings with Hypomorphic Defects in UNC13D.

Gray PE, Shadur B, Russell S, Mitchell R, Buckley M, Gallagher K, Andrews I, Thia K, Trapani JA, Kirk EP, Voskoboinik I.

Front Immunol. 2017 Aug 9;8:944. doi: 10.3389/fimmu.2017.00944. eCollection 2017.

3.

Genes, Environment, and the Heart: Putting the Pieces Together.

Kirk EP.

Circ Cardiovasc Genet. 2017 Jun;10(3). pii: e001764. doi: 10.1161/CIRCGENETICS.117.001764. No abstract available.

PMID:
28620072
4.

Advances in the Genetics of Congenital Heart Disease: A Clinician's Guide.

Blue GM, Kirk EP, Giannoulatou E, Sholler GF, Dunwoodie SL, Harvey RP, Winlaw DS.

J Am Coll Cardiol. 2017 Feb 21;69(7):859-870. doi: 10.1016/j.jacc.2016.11.060. Review.

PMID:
28209227
5.

Clinical utility gene card for: Cantú syndrome.

Kirk EP, Scurr I, van Haaften G, van Haelst MM, Nichols CG, Williams M, Smithson SF, Grange DK.

Eur J Hum Genet. 2017 Apr;25(4). doi: 10.1038/ejhg.2016.185. Epub 2017 Jan 4. No abstract available.

PMID:
28051078
6.

The promises and challenges of exome sequencing in familial, non-syndromic congenital heart disease.

Blue GM, Humphreys D, Szot J, Major J, Chapman G, Bosman A, Kirk EP, Sholler GF, Harvey RP, Dunwoodie SL, Winlaw DS.

Int J Cardiol. 2017 Mar 1;230:155-163. doi: 10.1016/j.ijcard.2016.12.024. Epub 2016 Dec 13.

PMID:
27989580
7.

Neuronal deficiency of ARV1 causes an autosomal recessive epileptic encephalopathy.

Palmer EE, Jarrett KE, Sachdev RK, Al Zahrani F, Hashem MO, Ibrahim N, Sampaio H, Kandula T, Macintosh R, Gupta R, Conlon DM, Billheimer JT, Rader DJ, Funato K, Walkey CJ, Lee CS, Loo C, Brammah S, Elakis G, Zhu Y, Buckley M, Kirk EP, Bye A, Alkuraya FS, Roscioli T, Lagor WR.

Hum Mol Genet. 2016 Jul 15;25(14):3042-3054. Epub 2016 Jun 6.

8.

Zika virus: accurate terminology matters.

Kirk EP.

Nature. 2016 Mar 10;531(7593):173. doi: 10.1038/531173b. No abstract available.

PMID:
26961646
9.

Sixty Minutes of Physical Activity per Day Included Within Preschool Academic Lessons Improves Early Literacy.

Kirk SM, Kirk EP.

J Sch Health. 2016 Mar;86(3):155-63. doi: 10.1111/josh.12363.

PMID:
26830501
10.

Asparagine Synthetase Deficiency causes reduced proliferation of cells under conditions of limited asparagine.

Palmer EE, Hayner J, Sachdev R, Cardamone M, Kandula T, Morris P, Dias KR, Tao J, Miller D, Zhu Y, Macintosh R, Dinger ME, Cowley MJ, Buckley MF, Roscioli T, Bye A, Kilberg MS, Kirk EP.

Mol Genet Metab. 2015 Nov;116(3):178-86. doi: 10.1016/j.ymgme.2015.08.007. Epub 2015 Aug 14.

PMID:
26318253
11.

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

Crow YJ, Chase DS, Lowenstein Schmidt J, Szynkiewicz M, Forte GM, Gornall HL, Oojageer A, Anderson B, Pizzino A, Helman G, Abdel-Hamid MS, Abdel-Salam GM, Ackroyd S, Aeby A, Agosta G, Albin C, Allon-Shalev S, Arellano M, Ariaudo G, Aswani V, Babul-Hirji R, Baildam EM, Bahi-Buisson N, Bailey KM, Barnerias C, Barth M, Battini R, Beresford MW, Bernard G, Bianchi M, Billette de Villemeur T, Blair EM, Bloom M, Burlina AB, Carpanelli ML, Carvalho DR, Castro-Gago M, Cavallini A, Cereda C, Chandler KE, Chitayat DA, Collins AE, Sierra Corcoles C, Cordeiro NJ, Crichiutti G, Dabydeen L, Dale RC, D'Arrigo S, De Goede CG, De Laet C, De Waele LM, Denzler I, Desguerre I, Devriendt K, Di Rocco M, Fahey MC, Fazzi E, Ferrie CD, Figueiredo A, Gener B, Goizet C, Gowrinathan NR, Gowrishankar K, Hanrahan D, Isidor B, Kara B, Khan N, King MD, Kirk EP, Kumar R, Lagae L, Landrieu P, Lauffer H, Laugel V, La Piana R, Lim MJ, Lin JP, Linnankivi T, Mackay MT, Marom DR, Marques Lourenço C, McKee SA, Moroni I, Morton JE, Moutard ML, Murray K, Nabbout R, Nampoothiri S, Nunez-Enamorado N, Oades PJ, Olivieri I, Ostergaard JR, Pérez-Dueñas B, Prendiville JS, Ramesh V, Rasmussen M, Régal L, Ricci F, Rio M, Rodriguez D, Roubertie A, Salvatici E, Segers KA, Sinha GP, Soler D, Spiegel R, Stödberg TI, Straussberg R, Swoboda KJ, Suri M, Tacke U, Tan TY, te Water Naude J, Wee Teik K, Thomas MM, Till M, Tonduti D, Valente EM, Van Coster RN, van der Knaap MS, Vassallo G, Vijzelaar R, Vogt J, Wallace GB, Wassmer E, Webb HJ, Whitehouse WP, Whitney RN, Zaki MS, Zuberi SM, Livingston JH, Rozenberg F, Lebon P, Vanderver A, Orcesi S, Rice GI.

Am J Med Genet A. 2015 Feb;167A(2):296-312. doi: 10.1002/ajmg.a.36887. Epub 2015 Jan 16.

12.

An explosion, a tsunami, a runaway train: half a century of genetics.

Kirk EP.

J Paediatr Child Health. 2015 Jan;51(1):3-7. doi: 10.1111/jpc.12799.

PMID:
25586838
13.

Targeted next-generation sequencing identifies pathogenic variants in familial congenital heart disease.

Blue GM, Kirk EP, Giannoulatou E, Dunwoodie SL, Ho JW, Hilton DC, White SM, Sholler GF, Harvey RP, Winlaw DS.

J Am Coll Cardiol. 2014 Dec 16;64(23):2498-506. doi: 10.1016/j.jacc.2014.09.048.

14.

Genetic counselling in parents of children with congenital heart disease significantly improves knowledge about causation and enhances psychosocial functioning.

Blue GM, Kasparian NA, Sholler GF, Kirk EP, Winlaw DS.

Int J Cardiol. 2015 Jan 15;178:124-30. doi: 10.1016/j.ijcard.2014.10.119. Epub 2014 Oct 22.

PMID:
25464235
15.

Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro-costo-mandibular syndrome.

Lynch DC, Revil T, Schwartzentruber J, Bhoj EJ, Innes AM, Lamont RE, Lemire EG, Chodirker BN, Taylor JP, Zackai EH, McLeod DR, Kirk EP, Hoover-Fong J, Fleming L, Savarirayan R; Care4Rare Canada, Majewski J, Jerome-Majewska LA, Parboosingh JS, Bernier FP.

Nat Commun. 2014 Jul 22;5:4483. doi: 10.1038/ncomms5483.

16.

Prenatally detected de novo apparently balanced chromosomal rearrangements: the effect on maternal worry, family functioning and intent of disclosure.

Sinnerbrink IB, Meiser B, Halliday J, Sherwen A, Amor DJ, Waters E, Rea F, Evans E, Rahman B, Kirk EP.

Prenat Diagn. 2014 Jun;34(6):598-604. doi: 10.1002/pd.4363. Epub 2014 Apr 25.

PMID:
24659467
17.

Parents' perceptions of genetics services for congenital heart disease: the role of demographic, clinical, and psychological factors in determining service attendance.

Kasparian NA, Fidock B, Sholler GF, Camphausen C, Murphy DN, Cooper SG, Kaul R, Jones O, Winlaw DS, Kirk EP.

Genet Med. 2014 Jun;16(6):460-8. doi: 10.1038/gim.2013.169. Epub 2013 Nov 7.

PMID:
24202083
18.

Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients.

Roscioli T, Elakis G, Cox TC, Moon DJ, Venselaar H, Turner AM, Le T, Hackett E, Haan E, Colley A, Mowat D, Worgan L, Kirk EP, Sachdev R, Thompson E, Gabbett M, McGaughran J, Gibson K, Gattas M, Freckmann ML, Dixon J, Hoefsloot L, Field M, Hackett A, Kamien B, Edwards M, Adès LC, Collins FA, Wilson MJ, Savarirayan R, Tan TY, Amor DJ, McGillivray G, White SM, Glass IA, David DJ, Anderson PJ, Gianoutsos M, Buckley MF.

Am J Med Genet C Semin Med Genet. 2013 Nov;163C(4):259-70. doi: 10.1002/ajmg.c.31378. Epub 2013 Oct 11.

PMID:
24127277
19.

Novel cases of D-2-hydroxyglutaric aciduria with IDH1 or IDH2 mosaic mutations identified by amplicon deep sequencing.

Nota B, Hamilton EM, Sie D, Ozturk S, van Dooren SJ, Ojeda MR, Jakobs C, Christensen E, Kirk EP, Sykut-Cegielska J, Lund AM, van der Knaap MS, Salomons GS.

J Med Genet. 2013 Nov;50(11):754-9. doi: 10.1136/jmedgenet-2013-101961. Epub 2013 Sep 18.

PMID:
24049096
20.

Mutations in LYRM4, encoding iron-sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes.

Lim SC, Friemel M, Marum JE, Tucker EJ, Bruno DL, Riley LG, Christodoulou J, Kirk EP, Boneh A, DeGennaro CM, Springer M, Mootha VK, Rouault TA, Leimkühler S, Thorburn DR, Compton AG.

Hum Mol Genet. 2013 Nov 15;22(22):4460-73. doi: 10.1093/hmg/ddt295. Epub 2013 Jun 28.

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