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Items: 21

1.

Isolated Bone Marrow Non-Langerhans Cell Histiocytosis Preceding RUNX1-Mutated Acute Myeloid Leukemia: Case Report and Literature Review.

Al Mugairi A, Al Turki S, Salama H, Al Ahmadi K, Abuelgasim KA, Damlaj M.

Am J Clin Pathol. 2019 May 3;151(6):638-646. doi: 10.1093/ajcp/aqz018.

PMID:
30989185
2.

Artificial Intelligence Approach for Variant Reporting.

Zomnir MG, Lipkin L, Pacula M, Meneses ED, MacLeay A, Duraisamy S, Nadhamuni N, Al Turki SH, Zheng Z, Rivera M, Nardi V, Dias-Santagata D, Iafrate AJ, Le LP, Lennerz JK.

JCO Clin Cancer Inform. 2018;2. doi: 10.1200/CCI.16.00079. Epub 2018 Mar 22.

3.

Using large sequencing data sets to refine intragenic disease regions and prioritize clinical variant interpretation.

Amr SS, Al Turki SH, Lebo M, Sarmady M, Rehm HL, Abou Tayoun AN.

Genet Med. 2017 May;19(5):496-504. doi: 10.1038/gim.2016.134. Epub 2016 Sep 22.

PMID:
27657688
4.

Risk factors for amputation in extremity vascular injuries in Saudi Arabia.

Al Wahbi A, Aldakhil S, Al Turki S, El Kayali A, Al Kohlani H, Al Showmer A.

Vasc Health Risk Manag. 2016 May 24;12:229-32. doi: 10.2147/VHRM.S91452. eCollection 2016.

5.

Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans.

Al Turki S, Manickaraj AK, Mercer CL, Gerety SS, Hitz MP, Lindsay S, D'Alessandro LCA, Swaminathan GJ, Bentham J, Arndt AK, Louw J, Breckpot J, Gewillig M, Thienpont B, Abdul-Khaliq H, Harnack C, Hoff K, Kramer HH, Schubert S, Siebert R, Toka O, Cosgrove C, Watkins H, Lucassen AM, O'Kelly IM, Salmon AP, Bu'Lock FA, Granados-Riveron J, Setchfield K, Thornborough C, Brook JD, Mulder B, Klaassen S, Bhattacharya S, Devriendt K, FitzPatrick DR; UK10K Consortium, Wilson DI, Mital S, Hurles ME.

Am J Hum Genet. 2016 Mar 3;98(3):592. doi: 10.1016/j.ajhg.2016.02.016. Epub 2016 Mar 3. No abstract available.

6.

Improving hearing loss gene testing: a systematic review of gene evidence toward more efficient next-generation sequencing-based diagnostic testing and interpretation.

Abou Tayoun AN, Al Turki SH, Oza AM, Bowser MJ, Hernandez AL, Funke BH, Rehm HL, Amr SS.

Genet Med. 2016 Jun;18(6):545-53. doi: 10.1038/gim.2015.141. Epub 2015 Nov 12. Review.

PMID:
26562227
7.

Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73.

Jinks RN, Puffenberger EG, Baple E, Harding B, Crino P, Fogo AB, Wenger O, Xin B, Koehler AE, McGlincy MH, Provencher MM, Smith JD, Tran L, Al Turki S, Chioza BA, Cross H, Harlalka GV, Hurles ME, Maroofian R, Heaps AD, Morton MC, Stempak L, Hildebrandt F, Sadowski CE, Zaritsky J, Campellone K, Morton DH, Wang H, Crosby A, Strauss KA.

Brain. 2015 Aug;138(Pt 8):2173-90. doi: 10.1093/brain/awv153. Epub 2015 Jun 11.

8.

Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defect.

D'Alessandro LC, Al Turki S, Manickaraj AK, Manase D, Mulder BJ, Bergin L, Rosenberg HC, Mondal T, Gordon E, Lougheed J, Smythe J, Devriendt K, Bhattacharya S, Watkins H, Bentham J, Bowdin S, Hurles ME, Mital S.

Genet Med. 2016 Feb;18(2):189-98. doi: 10.1038/gim.2015.60. Epub 2015 May 21.

9.

Loss of PCLO function underlies pontocerebellar hypoplasia type III.

Ahmed MY, Chioza BA, Rajab A, Schmitz-Abe K, Al-Khayat A, Al-Turki S, Baple EL, Patton MA, Al-Memar AY, Hurles ME, Partlow JN, Hill RS, Evrony GD, Servattalab S, Markianos K, Walsh CA, Crosby AH, Mochida GH.

Neurology. 2015 Apr 28;84(17):1745-50. doi: 10.1212/WNL.0000000000001523. Epub 2015 Apr 1.

10.

High throughput exome coverage of clinically relevant cardiac genes.

Manase D, D'Alessandro LC, Manickaraj AK, Al Turki S, Hurles ME, Mital S.

BMC Med Genomics. 2014 Dec 11;7:67. doi: 10.1186/s12920-014-0067-8.

11.

Using population data for assessing next-generation sequencing performance.

Houniet DT, Rahman TJ, Al Turki S, Hurles ME, Xu Y, Goodship J, Keavney B, Santibanez Koref M.

Bioinformatics. 2015 Jan 1;31(1):56-61. doi: 10.1093/bioinformatics/btu606. Epub 2014 Sep 17.

12.

Rare variants in NR2F2 cause congenital heart defects in humans.

Al Turki S, Manickaraj AK, Mercer CL, Gerety SS, Hitz MP, Lindsay S, D'Alessandro LC, Swaminathan GJ, Bentham J, Arndt AK, Louw J, Low J, Breckpot J, Gewillig M, Thienpont B, Abdul-Khaliq H, Harnack C, Hoff K, Kramer HH, Schubert S, Siebert R, Toka O, Cosgrove C, Watkins H, Lucassen AM, O'Kelly IM, Salmon AP, Bu'lock FA, Granados-Riveron J, Setchfield K, Thornborough C, Brook JD, Mulder B, Klaassen S, Bhattacharya S, Devriendt K, Fitzpatrick DF; UK10K Consortium, Wilson DI, Mital S, Hurles ME.

Am J Hum Genet. 2014 Apr 3;94(4):574-85. doi: 10.1016/j.ajhg.2014.03.007. Erratum in: Am J Hum Genet. 2014 Jul 3;95(1):126. Am J Hum Genet. 2016 Mar 3;98(3):592. Low, Jacoba [corrected to Louw, Jacoba].

13.

Mutations in KPTN cause macrocephaly, neurodevelopmental delay, and seizures.

Baple EL, Maroofian R, Chioza BA, Izadi M, Cross HE, Al-Turki S, Barwick K, Skrzypiec A, Pawlak R, Wagner K, Coblentz R, Zainy T, Patton MA, Mansour S, Rich P, Qualmann B, Hurles ME, Kessels MM, Crosby AH.

Am J Hum Genet. 2014 Jan 2;94(1):87-94. doi: 10.1016/j.ajhg.2013.10.001. Epub 2013 Nov 14.

14.

Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis.

Harlalka GV, Lehman A, Chioza B, Baple EL, Maroofian R, Cross H, Sreekantan-Nair A, Priestman DA, Al-Turki S, McEntagart ME, Proukakis C, Royle L, Kozak RP, Bastaki L, Patton M, Wagner K, Coblentz R, Price J, Mezei M, Schlade-Bartusiak K, Platt FM, Hurles ME, Crosby AH.

Brain. 2013 Dec;136(Pt 12):3618-24. doi: 10.1093/brain/awt270. Epub 2013 Oct 7.

15.

Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease.

Schmidts M, Frank V, Eisenberger T, Al Turki S, Bizet AA, Antony D, Rix S, Decker C, Bachmann N, Bald M, Vinke T, Toenshoff B, Di Donato N, Neuhann T, Hartley JL, Maher ER, Bogdanović R, Peco-Antić A, Mache C, Hurles ME, Joksić I, Guć-Šćekić M, Dobricic J, Brankovic-Magic M, Bolz HJ, Pazour GJ, Beales PL, Scambler PJ, Saunier S, Mitchison HM, Bergmann C.

Hum Mutat. 2013 May;34(5):714-24. doi: 10.1002/humu.22294.

16.

Defective presynaptic choline transport underlies hereditary motor neuropathy.

Barwick KE, Wright J, Al-Turki S, McEntagart MM, Nair A, Chioza B, Al-Memar A, Modarres H, Reilly MM, Dick KJ, Ruggiero AM, Blakely RD, Hurles ME, Crosby AH.

Am J Hum Genet. 2012 Dec 7;91(6):1103-7. doi: 10.1016/j.ajhg.2012.09.019. Epub 2012 Nov 8.

17.

Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry.

Olbrich H, Schmidts M, Werner C, Onoufriadis A, Loges NT, Raidt J, Banki NF, Shoemark A, Burgoyne T, Al Turki S, Hurles ME; UK10K Consortium, Köhler G, Schroeder J, Nürnberg G, Nürnberg P, Chung EM, Reinhardt R, Marthin JK, Nielsen KG, Mitchison HM, Omran H.

Am J Hum Genet. 2012 Oct 5;91(4):672-84. doi: 10.1016/j.ajhg.2012.08.016. Epub 2012 Sep 27.

18.

Congenital duplication of the palm syndrome: gene analysis and the molecular basis of its clinical features.

Al-Qattan MM, Al-Balwi M, Eyaid W, Al-Abdulkarim I, Al-Turki S.

J Hand Surg Eur Vol. 2009 Apr;34(2):247-51. doi: 10.1177/1753193408099828. Epub 2009 Mar 12.

PMID:
19282404
19.

Advanced trauma life support, 8th edition, the evidence for change.

Kortbeek JB, Al Turki SA, Ali J, Antoine JA, Bouillon B, Brasel K, Brenneman F, Brink PR, Brohi K, Burris D, Burton RA, Chapleau W, Cioffi W, Collet e Silva Fde S, Cooper A, Cortes JA, Eskesen V, Fildes J, Gautam S, Gruen RL, Gross R, Hansen KS, Henny W, Hollands MJ, Hunt RC, Jover Navalon JM, Kaufmann CR, Knudson P, Koestner A, Kosir R, Larsen CF, Livaudais W, Luchette F, Mao P, McVicker JH, Meredith JW, Mock C, Mori ND, Morrow C, Parks SN, Pereira PM, Pogetti RS, Ravn J, Rhee P, Salomone JP, Schipper IB, Schoettker P, Schreiber MA, Smith RS, Svendsen LB, Taha W, van Wijngaarden-Stephens M, Varga E, Voiglio EJ, Williams D, Winchell RJ, Winter R.

J Trauma. 2008 Jun;64(6):1638-50. doi: 10.1097/TA.0b013e3181744b03. Review.

PMID:
18545134
20.

Doppler ultrasound evaluation of hemodialysis vascular access.

Taminu DZ, Huraib SO, Gorka W, Romeh SA, M Quadric K, Al Turki S, Iqbal A, Flaiw A.

Saudi J Kidney Dis Transpl. 1998 Jan-Mar;9(1):8-11.

21.

Challenges facing continuing medical education and the Saudi Council for Health Specialities.

Al-Shehri AM, Al Haqwi AI, Al Ghamdi AS, Al-Turki SA.

Saudi Med J. 2001 Jan;22(1):3-5.

PMID:
11255600

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