Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 50 of 119

1.

Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population.

Monies D, Abouelhoda M, Assoum M, Moghrabi N, Rafiullah R, Almontashiri N, Alowain M, Alzaidan H, Alsayed M, Subhani S, Cupler E, Faden M, Alhashem A, Qari A, Chedrawi A, Aldhalaan H, Kurdi W, Khan S, Rahbeeni Z, Alotaibi M, Goljan E, Elbardisy H, ElKalioby M, Shah Z, Alruwaili H, Jaafar A, Albar R, Akilan A, Tayeb H, Tahir A, Fawzy M, Nasr M, Makki S, Alfaifi A, Akleh H, Yamani S, Bubshait D, Mahnashi M, Basha T, Alsagheir A, Khaled MA, Alsaleem K, Almugbel M, Badawi M, Bashiri F, Bohlega S, Sulaiman R, Tous E, Ahmed S, Algoufi T, Al-Mousa H, Alaki E, Alhumaidi S, Alghamdi H, Alghamdi M, Sahly A, Nahrir S, Al-Ahmari A, Alkuraya H, Almehaidib A, Abanemai M, Alsohaibaini F, Alsaud B, Arnaout R, Abdel-Salam GMH, Aldhekri H, AlKhater S, Alqadi K, Alsabban E, Alshareef T, Awartani K, Banjar H, Alsahan N, Abosoudah I, Alashwal A, Aldekhail W, Alhajjar S, Al-Mayouf S, Alsemari A, Alshuaibi W, Altala S, Altalhi A, Baz S, Hamad M, Abalkhail T, Alenazi B, Alkaff A, Almohareb F, Al Mutairi F, Alsaleh M, Alsonbul A, Alzelaye S, Bahzad S, Manee AB, Jarrad O, Meriki N, Albeirouti B, Alqasmi A, AlBalwi M, Makhseed N, Hassan S, Salih I, Salih MA, Shaheen M, Sermin S, Shahrukh S, Hashmi S, Shawli A, Tajuddin A, Tamim A, Alnahari A, Ghemlas I, Hussein M, Wali S, Murad H, Meyer BF, Alkuraya FS.

Am J Hum Genet. 2019 Oct 3;105(4):879. doi: 10.1016/j.ajhg.2019.09.019. No abstract available.

PMID:
31585110
2.

NOVEL VDR MUTATIONS IN PATIENTS WITH VITAMIN D-DEPENDENT RICKETS TYPE 2A: A MILD DISEASE PHENOTYPE CAUSED BY A NOVEL CANONICAL SPLICE SITE MUTATION.

Demir K, Zou M, Al-Rijjal RA, BinEssa H, Acar S, Durmaz E, Çatlı G, Al-Enezi AF, Alzahrani AS, Meyer BF, Shi Y.

Endocr Pract. 2019 Sep 26. doi: 10.4158/EP-2019-0295. [Epub ahead of print]

PMID:
31557081
3.

A novel KIT mutation in a family with expanded syndrome of piebaldism.

Hamadah I, Chisti M, Haider M, Al Dosssari H, Alhumaidan R, Meyer BF, Wakil SM.

JAAD Case Rep. 2019 Jul 13;5(7):627-631. doi: 10.1016/j.jdcr.2019.01.021. eCollection 2019 Jul. No abstract available.

4.

Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population.

Monies D, Abouelhoda M, Assoum M, Moghrabi N, Rafiullah R, Almontashiri N, Alowain M, Alzaidan H, Alsayed M, Subhani S, Cupler E, Faden M, Alhashem A, Qari A, Chedrawi A, Aldhalaan H, Kurdi W, Khan S, Rahbeeni Z, Alotaibi M, Goljan E, Elbardisy H, ElKalioby M, Shah Z, Alruwaili H, Jaafar A, Albar R, Akilan A, Tayeb H, Tahir A, Fawzy M, Nasr M, Makki S, Alfaifi A, Akleh H, Yamani S, Bubshait D, Mahnashi M, Basha T, Alsagheir A, Abu Khaled M, Alsaleem K, Almugbel M, Badawi M, Bashiri F, Bohlega S, Sulaiman R, Tous E, Ahmed S, Algoufi T, Al-Mousa H, Alaki E, Alhumaidi S, Alghamdi H, Alghamdi M, Sahly A, Nahrir S, Al-Ahmari A, Alkuraya H, Almehaidib A, Abanemai M, Alsohaibaini F, Alsaud B, Arnaout R, Abdel-Salam GMH, Aldhekri H, AlKhater S, Alqadi K, Alsabban E, Alshareef T, Awartani K, Banjar H, Alsahan N, Abosoudah I, Alashwal A, Aldekhail W, Alhajjar S, Al-Mayouf S, Alsemari A, Alshuaibi W, Altala S, Altalhi A, Baz S, Hamad M, Abalkhail T, Alenazi B, Alkaff A, Almohareb F, Al Mutairi F, Alsaleh M, Alsonbul A, Alzelaye S, Bahzad S, Manee AB, Jarrad O, Meriki N, Albeirouti B, Alqasmi A, AlBalwi M, Makhseed N, Hassan S, Salih I, Salih MA, Shaheen M, Sermin S, Shahrukh S, Hashmi S, Shawli A, Tajuddin A, Tamim A, Alnahari A, Ghemlas I, Hussein M, Wali S, Murad H, Meyer BF, Alkuraya FS.

Am J Hum Genet. 2019 Jun 6;104(6):1182-1201. doi: 10.1016/j.ajhg.2019.04.011. Epub 2019 May 23. Erratum in: Am J Hum Genet. 2019 Oct 3;105(4):879.

PMID:
31130284
5.

Functional analysis of 22 splice-site mutations in the PHEX, the causative gene in X-linked dominant hypophosphatemic rickets.

BinEssa HA, Zou M, Al-Enezi AF, Alomrani B, Al-Faham MSA, Al-Rijjal RA, Meyer BF, Shi Y.

Bone. 2019 Aug;125:186-193. doi: 10.1016/j.bone.2019.05.017. Epub 2019 May 15.

PMID:
31102713
6.

An atypical pulmonary fibrosis is associated with co-inheritance of mutations in the calcium binding protein genes S100A3 and S100A13.

Al-Mutairy EA, Imtiaz FA, Khalid M, Al Qattan S, Saleh S, Mahmoud LM, Al-Saif MM, Al-Haj L, Al-Enazi A, AlJebreen AM, Mohammed SF, Mobeireek AF, Alkattan K, Chisti MA, Luzina IG, Al-Owain M, Weheba I, Abdelsayed AM, Ramzan K, Janssen LJ, Conca W, Alaiya A, Collison KS, Meyer BF, Atamas SP, Khabar KS, Hasday JD, Al-Mohanna F.

Eur Respir J. 2019 Jul 18;54(1). pii: 1802041. doi: 10.1183/13993003.02041-2018. Print 2019 Jul.

7.

Autosomal recessive ADCY5-Related dystonia and myoclonus: Expanding the genetic spectrum of ADCY5-Related movement disorders.

Bohlega SA, Abou-Al-Shaar H, AlDakheel A, Alajlan H, Bohlega BS, Meyer BF, Monies D, Cupler EJ, Al-Saif AM.

Parkinsonism Relat Disord. 2019 Jul;64:145-149. doi: 10.1016/j.parkreldis.2019.02.039. Epub 2019 Feb 28.

PMID:
30975617
8.

LGMD1D myopathy with cytoplasmic and nuclear inclusions in a Saudi family due to DNAJB6 mutation.

Bohlega SA, Alfawaz S, Abou-Al-Shaar H, Al-Hindi HN, Murad HN, Bohlega MS, Meyer BF, Monies D.

Acta Myol. 2018 Sep 1;37(3):221-226. eCollection 2018 Sep.

9.

Pattern Recognition Receptor Polymorphisms as Predictors of Oxaliplatin Benefit in Colorectal Cancer.

Gray V, Briggs S, Palles C, Jaeger E, Iveson T, Kerr R, Saunders MP, Paul J, Harkin A, McQueen J, Summers MG, Johnstone E, Wang H, Gatcombe L, Maughan TS, Kaplan R, Escott-Price V, Al-Tassan NA, Meyer BF, Wakil SM, Houlston RS, Cheadle JP, Tomlinson I, Church DN.

J Natl Cancer Inst. 2019 Jan 14. doi: 10.1093/jnci/djy215. [Epub ahead of print]

10.

Autozygome and high throughput confirmation of disease genes candidacy.

Maddirevula S, Alzahrani F, Al-Owain M, Al Muhaizea MA, Kayyali HR, AlHashem A, Rahbeeni Z, Al-Otaibi M, Alzaidan HI, Balobaid A, El Khashab HY, Bubshait DK, Faden M, Yamani SA, Dabbagh O, Al-Mureikhi M, Jasser AA, Alsaif HS, Alluhaydan I, Seidahmed MZ, Alabbasi BH, Almogarri I, Kurdi W, Akleh H, Qari A, Al Tala SM, Alhomaidi S, Kentab AY, Salih MA, Chedrawi A, Alameer S, Tabarki B, Shamseldin HE, Patel N, Ibrahim N, Abdulwahab F, Samira M, Goljan E, Abouelhoda M, Meyer BF, Hashem M, Shaheen R, AlShahwan S, Alfadhel M, Ben-Omran T, Al-Qattan MM, Monies D, Alkuraya FS.

Genet Med. 2019 Mar;21(3):736-742. doi: 10.1038/s41436-018-0138-x. Epub 2018 Sep 21.

11.

Phenotype heterogeneity of congenital adrenal hyperplasia due to genetic mosaicism and concomitant nephrogenic diabetes insipidus in a sibling.

Kor Y, Zou M, Al-Rijjal RA, Monies D, Meyer BF, Shi Y.

BMC Med Genet. 2018 Jul 11;19(1):115. doi: 10.1186/s12881-018-0629-2.

12.

De novo truncating variants in WHSC1 recapitulate the Wolf-Hirschhorn (4p16.3 microdeletion) syndrome phenotype.

Derar N, Al-Hassnan ZN, Al-Owain M, Monies D, Abouelhoda M, Meyer BF, Moghrabi N, Alkuraya FS.

Genet Med. 2019 Jan;21(1):185-188. doi: 10.1038/s41436-018-0014-8. Epub 2018 Jun 11.

PMID:
29892088
13.

Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development.

Nahorski MS, Maddirevula S, Ishimura R, Alsahli S, Brady AF, Begemann A, Mizushima T, Guzmán-Vega FJ, Obata M, Ichimura Y, Alsaif HS, Anazi S, Ibrahim N, Abdulwahab F, Hashem M, Monies D, Abouelhoda M, Meyer BF, Alfadhel M, Eyaid W, Zweier M, Steindl K, Rauch A, Arold ST, Woods CG, Komatsu M, Alkuraya FS.

Brain. 2018 Jul 1;141(7):1934-1945. doi: 10.1093/brain/awy135.

14.

Molecular Analysis of Congenital Hypothyroidism in Saudi Arabia: SLC26A7 Mutation Is a Novel Defect in Thyroid Dyshormonogenesis.

Zou M, Alzahrani AS, Al-Odaib A, Alqahtani MA, Babiker O, Al-Rijjal RA, BinEssa HA, Kattan WE, Al-Enezi AF, Al Qarni A, Al-Faham MSA, Baitei EY, Alsagheir A, Meyer BF, Shi Y.

J Clin Endocrinol Metab. 2018 May 1;103(5):1889-1898. doi: 10.1210/jc.2017-02202.

PMID:
29546359
15.

Clinical and genetic characteristics of 15 families with hereditary hypophosphatemia: Novel Mutations in PHEX and SLC34A3.

Acar S, BinEssa HA, Demir K, Al-Rijjal RA, Zou M, Çatli G, Anık A, Al-Enezi AF, Özışık S, Al-Faham MSA, Abacı A, Dündar B, Kattan WE, Alsagob M, Kavukçu S, Tamimi HE, Meyer BF, Böber E, Shi Y.

PLoS One. 2018 Mar 5;13(3):e0193388. doi: 10.1371/journal.pone.0193388. eCollection 2018.

16.

Replication of Type 2 diabetes-associated variants in a Saudi Arabian population.

Li-Gao R, Wakil SM, Meyer BF, Dzimiri N, Mook-Kanamori DO.

Physiol Genomics. 2018 Apr 1;50(4):296-297. doi: 10.1152/physiolgenomics.00100.2017. Epub 2018 Feb 16.

17.

Identification of a novel lethal form of autosomal recessive ichthyosis caused by UDP-glucose ceramide glucosyltransferase deficiency.

Monies D, Anabrees J, Ibrahim N, Elbardisy H, Abouelhoda M, Meyer BF, Alkuraya FS.

Clin Genet. 2018 Jun;93(6):1252-1253. doi: 10.1111/cge.13180. Epub 2018 Feb 8. No abstract available.

PMID:
29417556
18.

Further delineation of Temtamy syndrome of corpus callosum and ocular abnormalities.

Alrakaf L, Al-Owain MA, Busehail M, Alotaibi MA, Monies D, Aldhalaan HM, Alhashem A, Al-Hassnan ZN, Rahbeeni ZA, Murshedi FA, Ani NA, Al-Maawali A, Ibrahim NA, Abdulwahab FM, Alsagob M, Hashem MO, Ramadan W, Abouelhoda M, Meyer BF, Kaya N, Maddirevula S, Alkuraya FS.

Am J Med Genet A. 2018 Mar;176(3):715-721. doi: 10.1002/ajmg.a.38615. Epub 2018 Jan 31.

PMID:
29383837
19.

Correction to: Recessive VARS2 mutation underlies a novel syndrome with epilepsy, mental retardation, short stature, growth hormone deficiency, and hypogonadism.

Alsemari A, Al-Younes B, Goljan E, Jaroudi D, BinHumaid F, Meyer BF, Arold ST, Monies D.

Hum Genomics. 2017 Dec 8;11(1):33. doi: 10.1186/s40246-017-0130-6.

20.

Recessive VARS2 mutation underlies a novel syndrome with epilepsy, mental retardation, short stature, growth hormone deficiency, and hypogonadism.

Alsemari A, Al-Younes B, Goljan E, Jaroudi D, BinHumaid F, Meyer BF, Arold ST, Monies D.

Hum Genomics. 2017 Nov 14;11(1):28. doi: 10.1186/s40246-017-0124-4. Erratum in: Hum Genomics. 2017 Dec 8;11(1):33.

21.

Identification of a novel genetic locus underlying tremor and dystonia.

Monies D, Abou Al-Shaar H, Goljan EA, Al-Younes B, Al-Breacan MMA, Al-Saif MM, Wakil SM, Meyer BF, Khabar KSA, Bohlega S.

Hum Genomics. 2017 Nov 6;11(1):25. doi: 10.1186/s40246-017-0123-5.

22.

Genome-wide association study and meta-analysis in Northern European populations replicate multiple colorectal cancer risk loci.

Tanskanen T, van den Berg L, Välimäki N, Aavikko M, Ness-Jensen E, Hveem K, Wettergren Y, Bexe Lindskog E, Tõnisson N, Metspalu A, Silander K, Orlando G, Law PJ, Tuupanen S, Gylfe AE, Hänninen UA, Cajuso T, Kondelin J, Sarin AP, Pukkala E, Jousilahti P, Salomaa V, Ripatti S, Palotie A, Järvinen H, Renkonen-Sinisalo L, Lepistö A, Böhm J, Mecklin JP, Al-Tassan NA, Palles C, Martin L, Barclay E, Tenesa A, Farrington SM, Timofeeva MN, Meyer BF, Wakil SM, Campbell H, Smith CG, Idziaszczyk S, Maughan TS, Kaplan R, Kerr R, Kerr D, Buchanan DD, Win AK, Hopper J, Jenkins MA, Newcomb PA, Gallinger S, Conti D, Schumacher FR, Casey G, Cheadle JP, Dunlop MG, Tomlinson IP, Houlston RS, Palin K, Aaltonen LA.

Int J Cancer. 2018 Feb 1;142(3):540-546. doi: 10.1002/ijc.31076. Epub 2017 Oct 12.

23.

Pro-inflammatory fatty acid profile and colorectal cancer risk: A Mendelian randomisation analysis.

May-Wilson S, Sud A, Law PJ, Palin K, Tuupanen S, Gylfe A, Hänninen UA, Cajuso T, Tanskanen T, Kondelin J, Kaasinen E, Sarin AP, Eriksson JG, Rissanen H, Knekt P, Pukkala E, Jousilahti P, Salomaa V, Ripatti S, Palotie A, Renkonen-Sinisalo L, Lepistö A, Böhm J, Mecklin JP, Al-Tassan NA, Palles C, Farrington SM, Timofeeva MN, Meyer BF, Wakil SM, Campbell H, Smith CG, Idziaszczyk S, Maughan TS, Fisher D, Kerr R, Kerr D, Passarelli MN, Figueiredo JC, Buchanan DD, Win AK, Hopper JL, Jenkins MA, Lindor NM, Newcomb PA, Gallinger S, Conti D, Schumacher F, Casey G, Aaltonen LA, Cheadle JP, Tomlinson IP, Dunlop MG, Houlston RS.

Eur J Cancer. 2017 Oct;84:228-238. doi: 10.1016/j.ejca.2017.07.034. Epub 2017 Aug 19.

24.

The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.

Monies D, Abouelhoda M, AlSayed M, Alhassnan Z, Alotaibi M, Kayyali H, Al-Owain M, Shah A, Rahbeeni Z, Al-Muhaizea MA, Alzaidan HI, Cupler E, Bohlega S, Faqeih E, Faden M, Alyounes B, Jaroudi D, Goljan E, Elbardisy H, Akilan A, Albar R, Aldhalaan H, Gulab S, Chedrawi A, Al Saud BK, Kurdi W, Makhseed N, Alqasim T, El Khashab HY, Al-Mousa H, Alhashem A, Kanaan I, Algoufi T, Alsaleem K, Basha TA, Al-Murshedi F, Khan S, Al-Kindy A, Alnemer M, Al-Hajjar S, Alyamani S, Aldhekri H, Al-Mehaidib A, Arnaout R, Dabbagh O, Shagrani M, Broering D, Tulbah M, Alqassmi A, Almugbel M, AlQuaiz M, Alsaman A, Al-Thihli K, Sulaiman RA, Al-Dekhail W, Alsaegh A, Bashiri FA, Qari A, Alhomadi S, Alkuraya H, Alsebayel M, Hamad MH, Szonyi L, Abaalkhail F, Al-Mayouf SM, Almojalli H, Alqadi KS, Elsiesy H, Shuaib TM, Seidahmed MZ, Abosoudah I, Akleh H, AlGhonaium A, Alkharfy TM, Al Mutairi F, Eyaid W, Alshanbary A, Sheikh FR, Alsohaibani FI, Alsonbul A, Al Tala S, Balkhy S, Bassiouni R, Alenizi AS, Hussein MH, Hassan S, Khalil M, Tabarki B, Alshahwan S, Oshi A, Sabr Y, Alsaadoun S, Salih MA, Mohamed S, Sultana H, Tamim A, El-Haj M, Alshahrani S, Bubshait DK, Alfadhel M, Faquih T, El-Kalioby M, Subhani S, Shah Z, Moghrabi N, Meyer BF, Alkuraya FS.

Hum Genet. 2017 Aug;136(8):921-939. doi: 10.1007/s00439-017-1821-8. Epub 2017 Jun 9.

25.

Mutational analysis of PHEX, FGF23 and CLCN5 in patients with hypophosphataemic rickets.

Guven A, Al-Rijjal RA, BinEssa HA, Dogan D, Kor Y, Zou M, Kaya N, Alenezi AF, Hancili S, Tarım Ö, Baitei EY, Kattan WE, Meyer BF, Shi Y.

Clin Endocrinol (Oxf). 2017 Jul;87(1):103-112. doi: 10.1111/cen.13347. Epub 2017 May 11.

PMID:
28383812
26.

Mendelian randomisation implicates hyperlipidaemia as a risk factor for colorectal cancer.

Rodriguez-Broadbent H, Law PJ, Sud A, Palin K, Tuupanen S, Gylfe A, Hänninen UA, Cajuso T, Tanskanen T, Kondelin J, Kaasinen E, Sarin AP, Ripatti S, Eriksson JG, Rissanen H, Knekt P, Pukkala E, Jousilahti P, Salomaa V, Palotie A, Renkonen-Sinisalo L, Lepistö A, Böhm J, Mecklin JP, Al-Tassan NA, Palles C, Martin L, Barclay E, Farrington SM, Timofeeva MN, Meyer BF, Wakil SM, Campbell H, Smith CG, Idziaszczyk S, Maughan TS, Kaplan R, Kerr R, Kerr D, Passarelli MN, Figueiredo JC, Buchanan DD, Win AK, Hopper JL, Jenkins MA, Lindor NM, Newcomb PA, Gallinger S, Conti D, Schumacher F, Casey G, Aaltonen LA, Cheadle JP, Tomlinson IP, Dunlop MG, Houlston RS.

Int J Cancer. 2017 Jun 15;140(12):2701-2708. doi: 10.1002/ijc.30709. Epub 2017 Apr 6.

27.

Cyp24a1 Attenuation Limits Progression of BrafV600E -Induced Papillary Thyroid Cancer Cells and Sensitizes Them to BRAFV600E Inhibitor PLX4720.

Zou M, Baitei EY, BinEssa HA, Al-Mohanna FA, Parhar RS, St-Arnaud R, Kimura S, Pritchard C, Alzahrani AS, Assiri AM, Meyer BF, Shi Y.

Cancer Res. 2017 Apr 15;77(8):2161-2172. doi: 10.1158/0008-5472.CAN-16-2066. Epub 2017 Feb 27.

28.

Variation at 2q35 (PNKD and TMBIM1) influences colorectal cancer risk and identifies a pleiotropic effect with inflammatory bowel disease.

Orlando G, Law PJ, Palin K, Tuupanen S, Gylfe A, Hänninen UA, Cajuso T, Tanskanen T, Kondelin J, Kaasinen E, Sarin AP, Kaprio J, Eriksson JG, Rissanen H, Knekt P, Pukkala E, Jousilahti P, Salomaa V, Ripatti S, Palotie A, Järvinen H, Renkonen-Sinisalo L, Lepistö A, Böhm J, Mecklin JP, Al-Tassan NA, Palles C, Martin L, Barclay E, Tenesa A, Farrington S, Timofeeva MN, Meyer BF, Wakil SM, Campbell H, Smith CG, Idziaszczyk S, Maughan TS, Kaplan R, Kerr R, Kerr D, Buchanan DD, Win AK, Hopper J, Jenkins M, Lindor NM, Newcomb PA, Gallinger S, Conti D, Schumacher F, Casey G, Taipale J, Cheadle JP, Dunlop MG, Tomlinson IP, Aaltonen LA, Houlston RS.

Hum Mol Genet. 2016 Jun 1;25(11):2349-2359. Epub 2016 Mar 22.

29.

Data on common variants associated with coronary artery disease/myocardial infarction in ethnic Arabs.

Wakil SM, Ram R, Muiya NP, Mehta M, Andres E, Mazhar N, Baz B, Hagos S, Alshahid M, Meyer BF, Morahan G, Dzimiri N.

Data Brief. 2016 Feb 9;7:172-176. eCollection 2016 Jun.

30.

A first-line diagnostic assay for limb-girdle muscular dystrophy and other myopathies.

Monies D, Alhindi HN, Almuhaizea MA, Abouelhoda M, Alazami AM, Goljan E, Alyounes B, Jaroudi D, AlIssa A, Alabdulrahman K, Subhani S, El-Kalioby M, Faquih T, Wakil SM, Altassan NA, Meyer BF, Bohlega S.

Hum Genomics. 2016 Sep 27;10(1):32.

31.

A common variant association study in ethnic Saudi Arabs reveals novel susceptibility loci for hypertriglyceridemia.

Ram R, Wakil SM, Muiya NP, Andres E, Mazhar N, Hagos S, Alshahid M, Meyer BF, Morahan G, Dzimiri N.

Clin Genet. 2017 Mar;91(3):371-378. doi: 10.1111/cge.12859. Epub 2017 Jan 30.

PMID:
27599772
32.

Phenotypic comparison of individuals with homozygous or heterozygous mutation of NOTCH3 in a large CADASIL family.

Abou Al-Shaar H, Qadi N, Al-Hamed MH, Meyer BF, Bohlega S.

J Neurol Sci. 2016 Aug 15;367:239-43. doi: 10.1016/j.jns.2016.05.061. Epub 2016 Jun 1.

PMID:
27423596
33.

Mendelian randomisation analysis strongly implicates adiposity with risk of developing colorectal cancer.

Jarvis D, Mitchell JS, Law PJ, Palin K, Tuupanen S, Gylfe A, Hänninen UA, Cajuso T, Tanskanen T, Kondelin J, Kaasinen E, Sarin AP, Kaprio J, Eriksson JG, Rissanen H, Knekt P, Pukkala E, Jousilahti P, Salomaa V, Ripatti S, Palotie A, Järvinen H, Renkonen-Sinisalo L, Lepistö A, Böhm J, Meklin JP, Al-Tassan NA, Palles C, Martin L, Barclay E, Farrington SM, Timofeeva MN, Meyer BF, Wakil SM, Campbell H, Smith CG, Idziaszczyk S, Maughan TS, Kaplan R, Kerr R, Kerr D, Buchanan DD, Win AK, Hopper JL, Jenkins MA, Lindor NM, Newcomb PA, Gallinger S, Conti D, Schumacher F, Casey G, Taipale J, Aaltonen LA, Cheadle JP, Dunlop MG, Tomlinson IP, Houlston RS.

Br J Cancer. 2016 Jul 12;115(2):266-72. doi: 10.1038/bjc.2016.188. Epub 2016 Jun 23.

34.

Novel mutations in TGM1 and ABCA12 cause autosomal recessive congenital ichthyosis in five Saudi families.

Wakil SM, Binamer Y, Al-Dossari H, Al-Humaidy R, Thuraya RA, Khalifa O, Finsterer J, Meyer BF, Al Owain M.

Int J Dermatol. 2016 Jun;55(6):673-9. doi: 10.1111/ijd.13279. Epub 2016 Apr 7.

PMID:
27061915
35.

Unbiased targeted next-generation sequencing molecular approach for primary immunodeficiency diseases.

Al-Mousa H, Abouelhoda M, Monies DM, Al-Tassan N, Al-Ghonaium A, Al-Saud B, Al-Dhekri H, Arnaout R, Al-Muhsen S, Ades N, Elshorbagi S, Al Gazlan S, Sheikh F, Dasouki M, El-Baik L, Elamin T, Jaber A, Kheir O, El-Kalioby M, Subhani S, Al Idrissi E, Al-Zahrani M, Alhelale M, Alnader N, Al-Otaibi A, Kattan R, Al Abdelrahman K, Al Breacan MM, Bin Humaid FS, Wakil SM, Alzayer F, Al-Dusery H, Faquih T, Al-Hissi S, Meyer BF, Hawwari A.

J Allergy Clin Immunol. 2016 Jun;137(6):1780-1787. doi: 10.1016/j.jaci.2015.12.1310. Epub 2016 Feb 23.

PMID:
26915675
36.

A common variant association study reveals novel susceptibility loci for low HDL-cholesterol levels in ethnic Arabs.

Wakil SM, Ram R, Muiya NP, Andres E, Mazhar N, Hagos S, Alshahid M, Meyer BF, Morahan G, Dzimiri N.

Clin Genet. 2016 Dec;90(6):518-525. doi: 10.1111/cge.12761. Epub 2016 Mar 8.

PMID:
26879886
37.

A genome-wide association study reveals susceptibility loci for myocardial infarction/coronary artery disease in Saudi Arabs.

Wakil SM, Ram R, Muiya NP, Mehta M, Andres E, Mazhar N, Baz B, Hagos S, Alshahid M, Meyer BF, Morahan G, Dzimiri N.

Atherosclerosis. 2016 Feb;245:62-70. doi: 10.1016/j.atherosclerosis.2015.11.019. Epub 2015 Nov 22.

PMID:
26708285
38.

Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1.

Cheng TH, Thompson D, Painter J, O'Mara T, Gorman M, Martin L, Palles C, Jones A, Buchanan DD, Win AK, Hopper J, Jenkins M, Lindor NM, Newcomb PA, Gallinger S, Conti D, Schumacher F, Casey G, Giles GG, Pharoah P, Peto J, Cox A, Swerdlow A, Couch F, Cunningham JM, Goode EL, Winham SJ, Lambrechts D, Fasching P, Burwinkel B, Brenner H, Brauch H, Chang-Claude J, Salvesen HB, Kristensen V, Darabi H, Li J, Liu T, Lindblom A, Hall P, de Polanco ME, Sans M, Carracedo A, Castellvi-Bel S, Rojas-Martinez A, Aguiar Jnr S, Teixeira MR, Dunning AM, Dennis J, Otton G, Proietto T, Holliday E, Attia J, Ashton K, Scott RJ, McEvoy M, Dowdy SC, Fridley BL, Werner HM, Trovik J, Njolstad TS, Tham E, Mints M, Runnebaum I, Hillemanns P, Dörk T, Amant F, Schrauwen S, Hein A, Beckmann MW, Ekici A, Czene K, Meindl A, Bolla MK, Michailidou K, Tyrer JP, Wang Q, Ahmed S, Healey CS, Shah M, Annibali D, Depreeuw J, Al-Tassan NA, Harris R, Meyer BF, Whiffin N, Hosking FJ, Kinnersley B, Farrington SM, Timofeeva M, Tenesa A, Campbell H, Haile RW, Hodgson S, Carvajal-Carmona L, Cheadle JP, Easton D, Dunlop M, Houlston R, Spurdle A, Tomlinson I.

Sci Rep. 2015 Dec 1;5:17369. doi: 10.1038/srep17369.

39.

IL-12 immunotherapy of Braf(V600E)-induced papillary thyroid cancer in a mouse model.

Parhar RS, Zou M, Al-Mohanna FA, Baitei EY, Assiri AM, Meyer BF, Shi Y.

Lab Invest. 2016 Jan;96(1):89-97. doi: 10.1038/labinvest.2015.126. Epub 2015 Oct 26.

40.

TSH overcomes Braf(V600E)-induced senescence to promote tumor progression via downregulation of p53 expression in papillary thyroid cancer.

Zou M, Baitei EY, Al-Rijjal RA, Parhar RS, Al-Mohanna FA, Kimura S, Pritchard C, Binessa HA, Alzahrani AS, Al-Khalaf HH, Hawwari A, Akhtar M, Assiri AM, Meyer BF, Shi Y.

Oncogene. 2016 Apr 14;35(15):1909-18. doi: 10.1038/onc.2015.253. Epub 2015 Oct 19.

41.

A Novel Mutation in the CYP11B1 Gene Causes Steroid 11β-Hydroxylase Deficient Congenital Adrenal Hyperplasia with Reversible Cardiomyopathy.

Alqahtani MA, Shati AA, Zou M, Alsuheel AM, Alhayani AA, Al-Qahtani SM, Gilban HM, Meyer BF, Shi Y.

Int J Endocrinol. 2015;2015:595164. doi: 10.1155/2015/595164. Epub 2015 Jul 22.

42.

Erratum: A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer.

Al-Tassan NA, Whiffin N, Hosking FJ, Palles C, Farrington SM, Dobbins SE, Harris R, Gorman M, Tenesa A, Meyer BF, Wakil SM, Kinnersley B, Campbell H, Martin L, Smith CG, Idziaszczyk S, Barclay E, Maughan TS, Kaplan R, Kerr R, Kerr D, Buchanan DD, Win AK, Hopper J, Jenkins M, Lindor NM, Newcomb PA, Gallinger S, Conti D, Schumacher F, Casey G, Dunlop MG, Tomlinson IP, Cheadle JP, Houlston RS.

Sci Rep. 2015 Aug 3;5:12372. doi: 10.1038/srep12372. No abstract available.

43.

KRAS(G12D)-mediated oncogenic transformation of thyroid follicular cells requires long-term TSH stimulation and is regulated by SPRY1.

Zou M, Baitei EY, Al-Rijjal RA, Parhar RS, Al-Mohanna FA, Kimura S, Pritchard C, BinEssa H, Alanazi AA, Alzahrani AS, Akhtar M, Assiri AM, Meyer BF, Shi Y.

Lab Invest. 2015 Nov;95(11):1269-77. doi: 10.1038/labinvest.2015.90. Epub 2015 Jul 6.

44.

A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer.

Al-Tassan NA, Whiffin N, Hosking FJ, Palles C, Farrington SM, Dobbins SE, Harris R, Gorman M, Tenesa A, Meyer BF, Wakil SM, Kinnersley B, Campbell H, Martin L, Smith CG, Idziaszczyk S, Barclay E, Maughan TS, Kaplan R, Kerr R, Kerr D, Buchanan DD, Win AK, Hopper J, Jenkins M, Lindor NM, Newcomb PA, Gallinger S, Conti D, Schumacher F, Casey G, Dunlop MG, Tomlinson IP, Cheadle JP, Houlston RS.

Sci Rep. 2015 May 20;5:10442. doi: 10.1038/srep10442. Erratum in: Sci Rep. 2015;5:12372. Buchannan, Daniel D [corrected to Buchanan, Daniel D].

45.

Clinical and genetic features of anoctaminopathy in Saudi Arabia.

Bohlega S, Monies DM, Abulaban AA, Murad HN, Alhindi HN, Meyer BF.

Neurosciences (Riyadh). 2015 Apr;20(2):173-7. doi: 10.17712/nsj.2015.2.20140547.

46.

The Affymetrix DMET Plus platform reveals unique distribution of ADME-related variants in ethnic Arabs.

Wakil SM, Nguyen C, Muiya NP, Andres E, Lykowska-Tarnowska A, Baz B, Tahir AI, Meyer BF, Morahan G, Dzimiri N.

Dis Markers. 2015;2015:542543. doi: 10.1155/2015/542543. Epub 2015 Feb 22.

47.

Expanding phenotypic and allelic heterogeneity of tricho-hepato-enteric syndrome.

Monies DM, Rahbeeni Z, Abouelhoda M, Naim EA, Al-Younes B, Meyer BF, Al-Mehaidib A.

J Pediatr Gastroenterol Nutr. 2015 Mar;60(3):352-6. doi: 10.1097/MPG.0000000000000627.

PMID:
25714577
48.

Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.

Alazami AM, Patel N, Shamseldin HE, Anazi S, Al-Dosari MS, Alzahrani F, Hijazi H, Alshammari M, Aldahmesh MA, Salih MA, Faqeih E, Alhashem A, Bashiri FA, Al-Owain M, Kentab AY, Sogaty S, Al Tala S, Temsah MH, Tulbah M, Aljelaify RF, Alshahwan SA, Seidahmed MZ, Alhadid AA, Aldhalaan H, AlQallaf F, Kurdi W, Alfadhel M, Babay Z, Alsogheer M, Kaya N, Al-Hassnan ZN, Abdel-Salam GM, Al-Sannaa N, Al Mutairi F, El Khashab HY, Bohlega S, Jia X, Nguyen HC, Hammami R, Adly N, Mohamed JY, Abdulwahab F, Ibrahim N, Naim EA, Al-Younes B, Meyer BF, Hashem M, Shaheen R, Xiong Y, Abouelhoda M, Aldeeri AA, Monies DM, Alkuraya FS.

Cell Rep. 2015 Jan 13;10(2):148-61. doi: 10.1016/j.celrep.2014.12.015. Epub 2014 Dec 31.

49.

Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency.

Balasubramanian R, Choi JH, Francescatto L, Willer J, Horton ER, Asimacopoulos EP, Stankovic KM, Plummer L, Buck CL, Quinton R, Nebesio TD, Mericq V, Merino PM, Meyer BF, Monies D, Gusella JF, Al Tassan N, Katsanis N, Crowley WF Jr.

Proc Natl Acad Sci U S A. 2014 Dec 16;111(50):17953-8. doi: 10.1073/pnas.1417438111. Epub 2014 Dec 3.

50.

Association of a mutation in LACC1 with a monogenic form of systemic juvenile idiopathic arthritis.

Wakil SM, Monies DM, Abouelhoda M, Al-Tassan N, Al-Dusery H, Naim EA, Al-Younes B, Shinwari J, Al-Mohanna FA, Meyer BF, Al-Mayouf S.

Arthritis Rheumatol. 2015 Jan;67(1):288-95. doi: 10.1002/art.38877.

Supplemental Content

Loading ...
Support Center