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Items: 1 to 50 of 77

1.

Delineation of dominant and recessive forms of LZTR1-associated Noonan syndrome.

Pagnamenta AT, Kaisaki PJ, Bennett F, Burkitt-Wright E, Martin HC, Ferla MP, Taylor JM, Gompertz L, Lahiri N, Tatton-Brown K, Newbury-Ecob R, Henderson A, Joss S, Weber A, Carmichael J, Turnpenny PD, McKee S, Forzano F, Ashraf T, Bradbury K, Shears D, Kini U, de Burca A, Study TDDD, Blair E, Taylor JC, Stewart H.

Clin Genet. 2019 Mar 12. doi: 10.1111/cge.13533. [Epub ahead of print]

PMID:
30859559
2.

Quantifying the contribution of recessive coding variation to developmental disorders.

Martin HC, Jones WD, McIntyre R, Sanchez-Andrade G, Sanderson M, Stephenson JD, Jones CP, Handsaker J, Gallone G, Bruntraeger M, McRae JF, Prigmore E, Short P, Niemi M, Kaplanis J, Radford EJ, Akawi N, Balasubramanian M, Dean J, Horton R, Hulbert A, Johnson DS, Johnson K, Kumar D, Lynch SA, Mehta SG, Morton J, Parker MJ, Splitt M, Turnpenny PD, Vasudevan PC, Wright M, Bassett A, Gerety SS, Wright CF, FitzPatrick DR, Firth HV, Hurles ME, Barrett JC; Deciphering Developmental Disorders Study.

Science. 2018 Dec 7;362(6419):1161-1164. doi: 10.1126/science.aar6731. Epub 2018 Nov 8.

PMID:
30409806
3.

Common genetic variants contribute to risk of rare severe neurodevelopmental disorders.

Niemi MEK, Martin HC, Rice DL, Gallone G, Gordon S, Kelemen M, McAloney K, McRae J, Radford EJ, Yu S, Gecz J, Martin NG, Wright CF, Fitzpatrick DR, Firth HV, Hurles ME, Barrett JC.

Nature. 2018 Oct;562(7726):268-271. doi: 10.1038/s41586-018-0566-4. Epub 2018 Sep 26.

PMID:
30258228
4.

Insights into Platypus Population Structure and History from Whole-Genome Sequencing.

Martin HC, Batty EM, Hussin J, Westall P, Daish T, Kolomyjec S, Piazza P, Bowden R, Hawkins M, Grant T, Moritz C, Grutzner F, Gongora J, Donnelly P.

Mol Biol Evol. 2018 May 1;35(5):1238-1252. doi: 10.1093/molbev/msy041.

5.

What is the non-inflammed appendix?

Martin HCO, La Hei EH.

ANZ J Surg. 2018 Mar;88(3):251. doi: 10.1111/ans.14384. No abstract available.

PMID:
29512352
6.

A point mutation in the ion conduction pore of AMPA receptor GRIA3 causes dramatically perturbed sleep patterns as well as intellectual disability.

Davies B, Brown LA, Cais O, Watson J, Clayton AJ, Chang VT, Biggs D, Preece C, Hernandez-Pliego P, Krohn J, Bhomra A, Twigg SRF, Rimmer A, Kanapin A; WGS500 Consortium, Sen A, Zaiwalla Z, McVean G, Foster R, Donnelly P, Taylor JC, Blair E, Nutt D, Aricescu AR, Greger IH, Peirson SN, Flint J, Martin HC.

Hum Mol Genet. 2017 Oct 15;26(20):3869-3882. doi: 10.1093/hmg/ddx270.

7.

Bcl-xL dependency coincides with the onset of neurogenesis in the developing mammalian spinal cord.

Fogarty LC, Song B, Suppiah Y, Hasan SMM, Martin HC, Hogan SE, Xiong J, Vanderluit JL.

Mol Cell Neurosci. 2016 Dec;77:34-46. doi: 10.1016/j.mcn.2016.09.001. Epub 2016 Sep 22.

PMID:
27665712
8.

Re: Appendicitis: 'to operate or not?' Should that be the question?

Martin HC.

ANZ J Surg. 2016 Sep;86(9):735-6. doi: 10.1111/ans.13671. No abstract available.

PMID:
27586577
9.

Ethanol and Acetaminophen Synergistically Induce Hepatic Aggregation and TCH346-Insensitive Nuclear Translocation of GAPDH.

Snider NT, Portney DA, Willcockson HH, Maitra D, Martin HC, Greenson JK, Omary MB.

PLoS One. 2016 Aug 11;11(8):e0160982. doi: 10.1371/journal.pone.0160982. eCollection 2016.

10.

Identification of Common Genetic Variants Influencing Spontaneous Dizygotic Twinning and Female Fertility.

Mbarek H, Steinberg S, Nyholt DR, Gordon SD, Miller MB, McRae AF, Hottenga JJ, Day FR, Willemsen G, de Geus EJ, Davies GE, Martin HC, Penninx BW, Jansen R, McAloney K, Vink JM, Kaprio J, Plomin R, Spector TD, Magnusson PK, Reversade B, Harris RA, Aagaard K, Kristjansson RP, Olafsson I, Eyjolfsson GI, Sigurdardottir O, Iacono WG, Lambalk CB, Montgomery GW, McGue M, Ong KK, Perry JRB, Martin NG, Stefánsson H, Stefánsson K, Boomsma DI.

Am J Hum Genet. 2016 May 5;98(5):898-908. doi: 10.1016/j.ajhg.2016.03.008. Epub 2016 Apr 28.

11.

Point Mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant.

Li J, Woods SL, Healey S, Beesley J, Chen X, Lee JS, Sivakumaran H, Wayte N, Nones K, Waterfall JJ, Pearson J, Patch AM, Senz J, Ferreira MA, Kaurah P, Mackenzie R, Heravi-Moussavi A, Hansford S, Lannagan TRM, Spurdle AB, Simpson PT, da Silva L, Lakhani SR, Clouston AD, Bettington M, Grimpen F, Busuttil RA, Di Costanzo N, Boussioutas A, Jeanjean M, Chong G, Fabre A, Olschwang S, Faulkner GJ, Bellos E, Coin L, Rioux K, Bathe OF, Wen X, Martin HC, Neklason DW, Davis SR, Walker RL, Calzone KA, Avital I, Heller T, Koh C, Pineda M, Rudloff U, Quezado M, Pichurin PN, Hulick PJ, Weissman SM, Newlin A, Rubinstein WS, Sampson JE, Hamman K, Goldgar D, Poplawski N, Phillips K, Schofield L, Armstrong J, Kiraly-Borri C, Suthers GK, Huntsman DG, Foulkes WD, Carneiro F, Lindor NM, Edwards SL, French JD, Waddell N, Meltzer PS, Worthley DL, Schrader KA, Chenevix-Trench G.

Am J Hum Genet. 2016 May 5;98(5):830-842. doi: 10.1016/j.ajhg.2016.03.001. Epub 2016 Apr 14.

12.

Subcellular localization of rat CYP2E1 impacts metabolic efficiency toward common substrates.

Hartman JH, Martin HC, Caro AA, Pearce AR, Miller GP.

Toxicology. 2015 Dec 2;338:47-58. doi: 10.1016/j.tox.2015.10.001. Epub 2015 Oct 14.

13.

Multicohort analysis of the maternal age effect on recombination.

Martin HC, Christ R, Hussin JG, O'Connell J, Gordon S, Mbarek H, Hottenga JJ, McAloney K, Willemsen G, Gasparini P, Pirastu N, Montgomery GW, Navarro P, Soranzo N, Toniolo D, Vitart V, Wilson JF, Marchini J, Boomsma DI, Martin NG, Donnelly P.

Nat Commun. 2015 Aug 5;6:7846. doi: 10.1038/ncomms8846.

14.

Application of whole genome and RNA sequencing to investigate the genomic landscape of common variable immunodeficiency disorders.

van Schouwenburg PA, Davenport EE, Kienzler AK, Marwah I, Wright B, Lucas M, Malinauskas T, Martin HC; WGS500 Consortium, Lockstone HE, Cazier JB, Chapel HM, Knight JC, Patel SY.

Clin Immunol. 2015 Oct;160(2):301-14. doi: 10.1016/j.clim.2015.05.020. Epub 2015 Jun 26.

15.

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders.

Taylor JC, Martin HC, Lise S, Broxholme J, Cazier JB, Rimmer A, Kanapin A, Lunter G, Fiddy S, Allan C, Aricescu AR, Attar M, Babbs C, Becq J, Beeson D, Bento C, Bignell P, Blair E, Buckle VJ, Bull K, Cais O, Cario H, Chapel H, Copley RR, Cornall R, Craft J, Dahan K, Davenport EE, Dendrou C, Devuyst O, Fenwick AL, Flint J, Fugger L, Gilbert RD, Goriely A, Green A, Greger IH, Grocock R, Gruszczyk AV, Hastings R, Hatton E, Higgs D, Hill A, Holmes C, Howard M, Hughes L, Humburg P, Johnson D, Karpe F, Kingsbury Z, Kini U, Knight JC, Krohn J, Lamble S, Langman C, Lonie L, Luck J, McCarthy D, McGowan SJ, McMullin MF, Miller KA, Murray L, Németh AH, Nesbit MA, Nutt D, Ormondroyd E, Oturai AB, Pagnamenta A, Patel SY, Percy M, Petousi N, Piazza P, Piret SE, Polanco-Echeverry G, Popitsch N, Powrie F, Pugh C, Quek L, Robbins PA, Robson K, Russo A, Sahgal N, van Schouwenburg PA, Schuh A, Silverman E, Simmons A, Sørensen PS, Sweeney E, Taylor J, Thakker RV, Tomlinson I, Trebes A, Twigg SR, Uhlig HH, Vyas P, Vyse T, Wall SA, Watkins H, Whyte MP, Witty L, Wright B, Yau C, Buck D, Humphray S, Ratcliffe PJ, Bell JI, Wilkie AO, Bentley D, Donnelly P, McVean G.

Nat Genet. 2015 Jul;47(7):717-726. doi: 10.1038/ng.3304. Epub 2015 May 18.

16.

Automated red blood cell exchange for acute drug removal in a patient with sirolimus toxicity.

Galera P, Martin HC, Welch L, Sulmasy P, Cerny J, Greene M, Vauthrin M, Bailey JA, Weinstein R.

J Clin Apher. 2015 Dec;30(6):367-70. doi: 10.1002/jca.21381. Epub 2015 Jan 24.

PMID:
25619898
17.

Human slack potassium channel mutations increase positive cooperativity between individual channels.

Kim GE, Kronengold J, Barcia G, Quraishi IH, Martin HC, Blair E, Taylor JC, Dulac O, Colleaux L, Nabbout R, Kaczmarek LK.

Cell Rep. 2014 Dec 11;9(5):1661-1672. doi: 10.1016/j.celrep.2014.11.015. Epub 2014 Dec 4.

18.

Quality of life and anxiety in Turkish patients with anorectal malformation.

Holland AJ, Hamid CH, Martin HC.

J Paediatr Child Health. 2014 Aug;50(8):657-8. doi: 10.1111/jpc.12688. No abstract available.

PMID:
25080987
19.

In a daily time-place learning task, time is only used as a discriminative stimulus if each daily session is associated with a distinct spatial location.

Deibel SH, Ingram ML, Lehr AB, Martin HC, Skinner DM, Martin GM, Hughes IM, Thorpe CM.

Learn Behav. 2014 Sep;42(3):246-55. doi: 10.3758/s13420-014-0142-1.

PMID:
24906889
20.

Introduction of new techniques in burn care in Australia and New Zealand: a survey.

Kim LK, Martin HC, Holland AJ.

ANZ J Surg. 2013 Nov;83(11):802-3. No abstract available.

PMID:
24654264
21.

Imperfect centered miRNA binding sites are common and can mediate repression of target mRNAs.

Martin HC, Wani S, Steptoe AL, Krishnan K, Nones K, Nourbakhsh E, Vlassov A, Grimmond SM, Cloonan N.

Genome Biol. 2014 Mar 14;15(3):R51. doi: 10.1186/gb-2014-15-3-r51.

22.

Blood-nerve barrier dysfunction contributes to the generation of neuropathic pain and allows targeting of injured nerves for pain relief.

Lim TK, Shi XQ, Martin HC, Huang H, Luheshi G, Rivest S, Zhang J.

Pain. 2014 May;155(5):954-67. doi: 10.1016/j.pain.2014.01.026. Epub 2014 Feb 3.

PMID:
24502843
23.

Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis.

Martin HC, Kim GE, Pagnamenta AT, Murakami Y, Carvill GL, Meyer E, Copley RR, Rimmer A, Barcia G, Fleming MR, Kronengold J, Brown MR, Hudspith KA, Broxholme J, Kanapin A, Cazier JB, Kinoshita T, Nabbout R; WGS500 Consortium, Bentley D, McVean G, Heavin S, Zaiwalla Z, McShane T, Mefford HC, Shears D, Stewart H, Kurian MA, Scheffer IE, Blair E, Donnelly P, Kaczmarek LK, Taylor JC.

Hum Mol Genet. 2014 Jun 15;23(12):3200-11. doi: 10.1093/hmg/ddu030. Epub 2014 Jan 25.

24.

miR-139-5p is a regulator of metastatic pathways in breast cancer.

Krishnan K, Steptoe AL, Martin HC, Pattabiraman DR, Nones K, Waddell N, Mariasegaram M, Simpson PT, Lakhani SR, Vlassov A, Grimmond SM, Cloonan N.

RNA. 2013 Dec;19(12):1767-80. doi: 10.1261/rna.042143.113. Epub 2013 Oct 24.

25.

The infection risk of plastic wrap as an acute burns dressing.

Liao AY, Andresen D, Martin HC, Harvey JG, Holland AJ.

Burns. 2014 May;40(3):443-5. doi: 10.1016/j.burns.2013.08.006. Epub 2013 Sep 6.

PMID:
24018215
26.

Medical management of paediatric burn injuries: best practice part 2.

D'Cruz R, Martin HC, Holland AJ.

J Paediatr Child Health. 2013 Sep;49(9):E397-404. doi: 10.1111/jpc.12179. Epub 2013 Apr 3. Review.

PMID:
23551985
27.

MicroRNA-182-5p targets a network of genes involved in DNA repair.

Krishnan K, Steptoe AL, Martin HC, Wani S, Nones K, Waddell N, Mariasegaram M, Simpson PT, Lakhani SR, Gabrielli B, Vlassov A, Cloonan N, Grimmond SM.

RNA. 2013 Feb;19(2):230-42. doi: 10.1261/rna.034926.112. Epub 2012 Dec 18.

28.

Evolution of a membrane protein regulon in Saccharomyces.

Martin HC, Roop JI, Schraiber JG, Hsu TY, Brem RB.

Mol Biol Evol. 2012 Jul;29(7):1747-56. doi: 10.1093/molbev/mss017. Epub 2012 Jan 20.

29.

MicroRNAs and their isomiRs function cooperatively to target common biological pathways.

Cloonan N, Wani S, Xu Q, Gu J, Lea K, Heater S, Barbacioru C, Steptoe AL, Martin HC, Nourbakhsh E, Krishnan K, Gardiner B, Wang X, Nones K, Steen JA, Matigian NA, Wood DL, Kassahn KS, Waddell N, Shepherd J, Lee C, Ichikawa J, McKernan K, Bramlett K, Kuersten S, Grimmond SM.

Genome Biol. 2011 Dec 30;12(12):R126. doi: 10.1186/gb-2011-12-12-r126.

30.

Medical management of paediatric burn injuries: best practice.

Kim LK, Martin HC, Holland AJ.

J Paediatr Child Health. 2012 Apr;48(4):290-5. doi: 10.1111/j.1440-1754.2011.02128.x. Epub 2011 Jun 17. Review.

PMID:
21679339
31.

Geographical genomics of human leukocyte gene expression variation in southern Morocco.

Idaghdour Y, Czika W, Shianna KV, Lee SH, Visscher PM, Martin HC, Miclaus K, Jadallah SJ, Goldstein DB, Wolfinger RD, Gibson G.

Nat Genet. 2010 Jan;42(1):62-7. doi: 10.1038/ng.495. Epub 2009 Dec 6.

32.

Delayed cooling of an acute scald contact burn injury in a porcine model: is it worthwhile?

Rajan V, Bartlett N, Harvey JG, Martin HC, La Hei ER, Arbuckle S, Godfrey C, Holland AJ.

J Burn Care Res. 2009 Jul-Aug;30(4):729-34. doi: 10.1097/BCR.0b013e3181ac059b.

PMID:
19506512
33.

Optimal duration of cooling for an acute scald contact burn injury in a porcine model.

Bartlett N, Yuan J, Holland AJ, Harvey JG, Martin HC, La Hei ER, Arbuckle S, Godfrey C.

J Burn Care Res. 2008 Sep-Oct;29(5):828-34. doi: 10.1097/BCR.0b013e3181855c9a.

PMID:
18695595
34.

Posttraumatic small bowel obstruction in children.

Jones VS, Soundappan SV, Cohen RC, Pitkin J, La Hei ER, Martin HC, Cass DT.

J Pediatr Surg. 2007 Aug;42(8):1386-8.

PMID:
17706501
35.

Assessment of cooling on an acute scald burn injury in a porcine model.

Yuan J, Wu C, Holland AJ, Harvey JG, Martin HC, La Hei ER, Arbuckle S, Godfrey TC.

J Burn Care Res. 2007 May-Jun;28(3):514-20.

PMID:
17438497
36.

[Cisplatin-induced hearing loss in children in relation to eye color].

Martin HC, Schmidt CM, Boos HJ, Heinecke A, Dinnesen AG.

HNO. 2007 Jun;55(6):489-96. German.

PMID:
17180696
37.

Long-term outcome of anorectal malformations: the patient perspective.

Hamid CH, Holland AJ, Martin HC.

Pediatr Surg Int. 2007 Feb;23(2):97-102. Epub 2006 Dec 14.

PMID:
17171379
38.

Idiopathic fibrosing pancreatitis in children--a single-center experience.

Deshpande AV, LaHei ER, Shun A, Martin HC, O'Loughlin EV.

J Pediatr Surg. 2006 Dec;41(12):1987-91.

PMID:
17161188
39.

Laser Doppler imaging of paediatric burns: burn wound outcome can be predicted independent of clinical examination.

La Hei ER, Holland AJ, Martin HC.

Burns. 2006 Aug;32(5):550-3. Epub 2006 May 24.

PMID:
16730128
40.

Colonic duplication: diagnostic dilemma.

Al-Shanafey S, Martin HC, Bottger S.

Eur J Pediatr Surg. 2006 Feb;16(1):58-60.

PMID:
16544230
41.

Recurrent parotitis of childhood.

Leerdam CM, Martin HC, Isaacs D.

J Paediatr Child Health. 2005 Dec;41(12):631-4.

PMID:
16398865
42.

Ontogeny of hematological cell and biochemical profiles in maternal and fetal baboons (Papio species).

Schlabritz-Loutsevitch NE, Hubbard GB, Jenkins SL, Martin HC, Snider CS, Frost PA, Leland MM, Havill LM, McDonald TJ, Nathanielsz PW.

J Med Primatol. 2005 Aug;34(4):193-200.

PMID:
16053497
43.

Biliary dyskinesia: is the problem with Oddi?

Wood J, Holland AJ, Shun A, Martin HC.

Pediatr Surg Int. 2004 Feb;20(2):83-6. Epub 2004 Feb 10.

PMID:
14770323
44.

Bilious vomiting in a 6-month-old infant.

Donnelly D, Lam A, Martin HC, Fitzgerald DA.

J Paediatr Child Health. 2003 May-Jun;39(4):305-8. No abstract available.

PMID:
12755940
45.

Small bowel perforation in the premature neonate: congenital or acquired?

Holland AJ, Shun A, Martin HC, Cooke-Yarborough C, Holland J.

Pediatr Surg Int. 2003 Aug;19(6):489-94. Epub 2003 May 13.

PMID:
12748799
46.

Intermittent intussusception.

Mapagu C, Lam A, Martin HC, Fitzgerald DA.

J Paediatr Child Health. 2003 Mar;39(2):147-8. No abstract available.

PMID:
12603807
47.

Atypical mycobacterial disease in children: a personal series.

Mushtaq I, Martin HC.

Pediatr Surg Int. 2002 Dec;18(8):707-11. Epub 2002 Oct 24.

PMID:
12598970
48.

Injury caused by baby walkers.

Martin HC.

Med J Aust. 2003 Jan 20;178(2):91; author reply 92. No abstract available.

PMID:
12526731
49.
50.

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