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مركز الأميرة الجوهرة البراهيم للتميز البحثي في الأمراض الوراثية

النشر العلمي للمركز

ISI Journal


Bhuiyan ZA, Al-Shahrani S, Al-Aama J, Wilde AAM, Momenah TS. Congenital Long Qt Syndrome: An Update and present Perspective in Saudi Arabia. Frontiers in Pediatrics. Inaugural article. doi:10.3389/fped.2013.00039.


Al-Aama JY, Al-Ghamdi S, Bdier AY, AlQarawi A, Jiman OA, Al—ama N, Al-Aata J, Wilde AAM,Bhuiyan ZA. Genotype-Phenotype Analysis of Jerbell and Lange-Nielsen Syndrome in Six families from
Saudi Arabia. Clin Gen 2013. doi: 10.1111/cge.12330


Al-Aama JY, Al-Ghamdi S, Bdier Ay, Bhuiyan ZA. De novo Mutation in the KCNQ1 gene casual to Jervell and Lange-Nielsen Syndrome. Clin Gen 2013. doi: 10.1111/cge.12300


Hussein Sheikh Ali HS, Mohamouda, Muhammad Ramzan, Manwar Hussain, Noor Ahmad Shaik, Zaheer Ulhaq Qasmi, Amir Feisal Mericand, Mukhtiar Baig, Ashraf A. El-Harouni, Hani Asfour, Nabeel Bondaji, Yasir Anwar, and Jumana Yousuf Al-Aama. First Comprehensive In silico Analysis of the Functional and Structural Consequences of SNPs in Human GalNAc-T1 Gene. Computational And Mathematical Methods In Medicine 2013.


Eisenberger T, Neuhaus C, Khan AO, Decker C, Preising MN, Friedburg C, Bieg A, Gliem M, Issa PC, Holz FG, Baig SM, Hellenbroich Y, Galvez A, Platzer K, Wollnik B, Laddach N, Ghaffari SR, Rafati M, Botzenhart E, Tinschert S, Börger D, Bohring A, Schreml J, Körtge-Jung S, Schell-Apacik C, Bakur K, Al-Aama JY, Neuhann T, Herkenrath P, Nürnberg G, Nürnberg P, Davis JS, Gal A, Bergmann C, Lorenz B, Bolz HJ. Increasing the Yield in Targeted Next-Generation Sequencing by Implicating CNV Analysis, Non-Coding Exons and the Overall Variant Load: The Example of Retinal Dystrophies. Plos One 2013.  doi:10.1371/journal.pone.0078496.


Tilgner K, Neganova I, Singhapol C, Saretzki G, Al-Aama J, Evans J, Gorbunova V, Gennery A, Przyborski S, Stojkovic M, Armstrong L, Jeggo P and Lako M (2013) A human induced pluripotent stem cell model of Cernunnos deficiency reveals an important role for XLF
in the survival of the primitive haemotopoietic
progenitors. Stem cells.  doi: 10.1002/stem.1456)


Postema PG, Tan HL, Wilde AAM. Ageing and Brugada syndrome: considerations and recommendations. Journal of Geriatric Cardiology 2013. Vol. 10: 75−81.


Beckmann BM, Wilde AA, Kääb S. Clinical utility gene card for: Long-QT syndrome (types 1-13). Eur J Hum Genet


Postema PG, Wilde AA. Do J waves constitute a syndrome? J Electrocardiol. 2013. PMID: 23866292


Bhuiyan ZA, Wilde AAM. IKs in Heart and Hearing, the ear can do with less than the heart (editorial). Circulation Cardiovasc Genetics 2013. Vol. 6: 141-143


Amin AS, Pinto YM, Wilde AAM. Long QT syndrome: beyond the causal mutation (review). J Physiol 2013. PMID: 23753525. 591(17):4065-4066


Wilde AAM, Behr ER. Genetic testing for inherited cardiac disease. Nat Reviews Cardiology2013; Vol. 10: 571-583.


Priori SG, Wilde AA, Horie M, Cho Y, Behr ER, Berul C, Blom N, Brugada J, Chiang CE, Huikuri H, Kannankeril P, Krahn A, Leenhardt A, Moss A, Schwartz PJ, Shimizu W, Tomaselli G, Tracy C. Executive summary: HRS/EHRA/APHRS consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes. Heart Rhythm. 2013. PMID: 24011539. Europace 2013. PMID: 23994779. J of Arrhyth 2013.


Marsman RF, Barc J, Beekman L, Alders M, Dooijes D, van den Wijngaard A, Ratbi I, Sefiani A, Bhuiya ZA, Wilde AAM, Bezzina CR. A mutation in CALM1 encoding calmodulin in familial idiopathic ventricular fibrillation in childhood and adolescence . J Am Coll Cardiol 2013, PMID: 24076290. doi:10.1016


Wilde AAM. Andersen Tawil Syndrome, more scaring for the doctor than for the patient? Who, when and how to treat. Europace, in press 2013 (editorial) uropace (2013)doi: 10.1093/europace/eut326First published online: October 14, 2013


Ramzan M, Nasir J, Al-Aama J. Clinically significant missense variants in human GALNT3, GALNT8,GALNT12 and GALNT13 genes: Intriguing in silico findings. Journal of Cellular Biochemistry. DOI: 10.1002/jcb.24666.


Shaik NA, Kaleemuddin M, Banaganapalli B, Khan F, Shaik NS, Ajabnoor G, Al-Harthi SE, Bondogji N, Al-Aama JY, Elango R. Structural and Functional Characterization of Pathogenic Non-Synonymous Genetic Mutations of Human IDE by In-Silico Methods. CNS Neurol Disord Drug Targets. 2013 Sep.19 doi: 10.2174/18715273113126660161


Banaganapalli B, Mulakayala C, Pulaganti M, Mulakayala N, Anuradha CM, Chitta SK,Shaik NA,AlAama J, Gudla D. Experimental and Computational Studies on Newly Synthesized Resveratrol Derivative:A New Method for Cancer Chemoprevention and Therapeutics? Journal of Integrative Biology 2013. doi:10.1089/omi.2013.0014


Banaganapalli B, Mulakayala C, Gowsia, Mulakayala N, Pulaganti M, Shaik NA, Anuradha CM, RaoMH, Al-Aama J, Chitta SK. Synthesis and Biological Activity of New Resveratrol Derivative and  Molecular Docking: Dynamics Studies on NFkB.  Applied Biochemistry and Biotechnology 2013. doi:10.1007/s12010-013-0448-z


Zubeda S, Kaipa RP, Shaik NA, Mohiuddin MK, Vaidya S, Pavani B, Srinivasulu M, Latha MM, Hasan Q. A Neglected Marker of Prognostication and Management of Breast Cancer Patients in India. Asian Pacific Journal of Cancer Prevention 2013. Vol. 14 (4): 2231-2235


Tilgner K, Neganova I, Moreno-Gimeno I, Al-Aama J, Burks D, Yung S, Singhapol C, Saretzki G, Evans J, Gorbunova V, Gennery A, Przyborski S, Stojkovic M, Armstrong L, Jeggo P, Lako M. A Human iPSCmodel of ligase IV deficiency reveals an important role for NHEJ-mediated-DSB repair in the survival and genomic stability of induced pluripotent stem cells and emerging haemaopoietic progenitors. CellDeath and Differentiation Journal. doi: 10.1038/cdd.2013.4


Ur-rahman O, Khawar N, Khan M, Ahmed J, Khattak K, Al-Aama J, Naeem M, Jelani M. Deletion gene underlies congenital generalized lipodystrophy in a Pakistan family. Diagnostic Pathology 2013, 8:78


Hussain MR, Asfour H, Yasir M, Khan A, Mohamoud HS, Al-Aama J, The microbial pathology of Neu5Ac and Gal epitopes. Journal of Carbohydrate Chemistry 2013. Doi: 10, 1080/07328303. 2013.79377. Vol.  32 (3): 169-183


Bondagji NS. Prevalence of high risk Human Papiloma Virus infections in healthy Saudi women attending gynecologic clinics in western region of Saudi Arabia.Annals of Saudi Medicine 2013; 33(1): 13-17


Al-Owain M, Imtiaz F, Shuaib T, Edrees A, Sakati N, Al-Hassnan Z, Bamashmous H, Faqeih E, Al-Hashem A, Garout W, Al-Odaib A, Rashed M, Al-Aama JY, Smith-Lemli-Opitz Syndrome among Arabs. Clinical Genetics 2012; Aug; 82(2): 165-172.


Masoodi TS, Rao Talluri V, Shaik NA, Al-Aama JY, Hasan Q. Functional genomics based prioritization of potential non-synonymous SNP’s in EPHX1, GSTT1, GSTM1, and GSTP1 genes for breast cancer susceptibility studies. Genomics 2012; Vol. 99(6): 330-339.

 28 Hussain MRM, Shaik NA, Al-Aama JY, Khan F, Masoodi TA. In silico analysis of single nucleotide polymorphisms (SNPs) in human BRAF gene. Gene 2012; Vol. 508(2): 188-196.

Masoodi TA, Shaik NAShafi G, Munshi A, Ahamed AKMasoodi ZA. Comparative analysis of hemagglutinin of 2009 H1N1 influenza A pandemic indicates its evolution to 1918 H1N1 pandemic. Gene 2012; Vol. 491(2):200-4.


Essawi MLAl-Attribi GMGaber KREl-Harouni AA. Molecular prenatal diagnosis ofautosomal recessivechildhood spinal muscular atrophies (SMAs). Gene 2012; Vol. 509 (1):120-123.


Vaidya SShaik NALatha MChava SMohiuddin KYalla ARao KPKodati VLHasan Q. No evidence for the role of somatic mutations and promoterhypermethylation of FH gene in the tumorigenesis of nonsyndromic uterine leiomyomas. Tumour Biol. 2012 Oct;33(5):1411-8.


Al-Aama JYDabbagh AAEdrees AY. A Newly Described Mutation of the CLCN7 Gene Causes Neuropathic Autosomal Recessive Osteopetrosis in an Arab Family. 2012 Jan;21(1):1-7..


Hussain MRM, Hassan M, Shaik NA, Zeeshan Iqbal. The role of Galactose in human health and diseaseCent. Eur. J. Med 2012. 7; 409-419.


Ahmed S, Al-Aama JY. Cenani- Lenz Syndrome – like limb anomaly with more severe involvement of left side. BMJ Case Reports 2012 Jul 13;2012.


Bicknell LSBongers EMLeitch ABrown SSchoots JHarley MEAftimos SAl-Aama JYBober MBrown PA, et. al. Mutations in the pre-replication complex cause Meier –Gorlin syndrome. Nature Genetics 2011; Vol. 43, (4): 356-359.


Patrinos GPAl-Aama JY, Al Aqeel AAl-Mulla FBorg JDevereux AFelice AEMacrae FMarafie MJPetersen MBQi MRamesar RSZlotogora JCotton RG. Recommendations for genetic variation data capture in developing countries to ensure a comprehensive worldwide data collection. Human Mutation 2011; Vol. 32(1): 2-9.


AlAama JYSmith TDLo AHoward HKline AALange MKaput JCotton RG. Initiating a Human Variome Project Country Node. Human Mutation 2011; Vol. 32(5): 501-506.


Kari JA, El-Morshedy SM, El-Desoky S, Alshaya HO, Rahim KA, Edrees BM. Rituximab for refractory cases of childhood nephritic syndrome. Pediatric Nephrology 2011 May; 26 (5):733-7.


Kohonen-Corish MRAl-Aama JYAuerbach ADAxton MBarash CIBernstein IBéroud CBurn JCunningham F, et.al. How to Catch all those Mutations-The Report of the Third Human Variome Project Meeting, UNESCO Paris, May 2010. Human Mutation 2010; Vol. 31 (12): 1374-1381.


Povey S, Auerbach A, Barash C, Al Aqeel A, Thompson A, Chadwick R, Dalgleish R, Dunnen J, Greenblatt M, Macrae F, Patrinos G, Savige J, Al-Aama JY, et. al. "Human Variome Project 3, Session 1-Ethics". Human Mutation 2010; Vol. 31(12).


Ramesar R, Al-Aama JY. Human Variome Project 3, Session 8 –Country Specific Collection. Human Mutation 2010; Vol. 31(12): 1098-1004.


Al-Aama JY. Attitudes towards mandatory national premarital screening for hereditary hemolytic disorders. Health policy 2010; Vol. 97(1): 32-37.


Hucthagowder V, Morava E, Kornak U, Lefeber D, Fischer B, Dimopoulou A, Aldinger A, Choi J, Davis E, Abuelo D. Adamowicz M, Al-Aama JY, Vanagaite L, Fernandez B, Greally M, Gillessen-Kaesbach G, Kayserili H, Lemyre E, Tekin M, Turkmen S, Tuysuz B, Yuksel-Konuk B, Mundlos S, Maldergem L, Webers R, Urban Z. Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastion secretion and cell survival. Human Molecular Genetics 2009; Vol. 18(12), 2149-65.


Kaput J, Cotton R, Hardman L, Watson M, Al Aqeel A, Al-Aama JY, Al-Mulla F, Aretz S, Auerbach A, Axton M, Bapat B, Barash C. et. al. Planning the Human Variome Project: The Spain Report. Human Mutation. 2009, Vol. 30(4): 496 – 510.


Kari JA, Halawani M, Mokhtar G, Jalalah SM, Anshasi. Histopathology of steroid-resistant nephritic syndrome in children living in the Kingdom of Saudi Arabia. Pediatric Nephrology 2009. DOI 10.1007/s00467-008-1106-5.


Saadah OI, Al-Aama JY, Alaifan MA, Bin Talib YY, Al-Mughales JA. Prevalence of celiac disease in children with Down syndrome screened by anti-tissue transglutaminase. Saudi Med J 2012; Vol. 33(2): 208-210.


Al-Aama JY,, Bondagji N, El-Harouni A. Congenital heart defects in down syndrome patients from Western Region in Saudi Arabia: A prospective study. Saudi Med J 2012; Vol. 33(11): 179-183.


Bondagji NSKasim EM. The corrected perinatal mortality rate. A hospital-based study in Saudi Arabia. Saudi Med J 2012 Vol. 33 (6): 654-9.


Abdullah LS, Bondagji NS. Histopathological Pattern of Ovarian Neoplasms and their age Distibution in the Western region of Saudi Arabia. Saudi Med J 2012 Vol. 33 (1): 61-65.


Bondagji NS. Rhesus alloimmunization in pregnancy – A tertiary care center experience in theWestern region of Saudi Arabia. Saudi Med J 2011 Vol. 32 (10): 1039-1045.


Kari JA, Bardisi ESBaitalmal RMAgeely GA. Folic acid awareness among female college students Saudi Med J 2008; Vol. 29 (12): 1749-51.


Nasser TQari F. Pheochromocytoma, papillary thyroid carcinoma. Saudi Med J 2009; Vol. 30 (8):1087-1090.


Al-Aama JY,Al-Nabulsi BK, Alyousef MA, Asiri NA, Al-Blewi SM. Knowledge regarding the national premarital screening program among university students in western Saudi Arabia. Saudi Med J. 2008 Vol. 29(11):1649-53.


Bondaji NS.Antenatal diagnosis, prevalence and outcome of congenital anomalies of the kidney and urinary tract in Saudi Arabia. Urology Annals 2013.


Bondaji NS. Trends and patterns of stillbirth and neonatal death, 2001-2010: a retrospective cohort study in the western region of Saudi Arabia Saudi Journal of Obstetrics and gynecology 2013.


Kari JA, Safdar O, Jamjoom R , Anshasi W. Renal Involvement in Children with Spina Bifida, Saudi J Kidney Dis Transplant 2009; Vol. 20(1):102-105.


Abdulraaof HS. Study of the Maternal & Fetal Toxicity of Methyl mercury Administration During, Pregnancy in Rats. Saudi Journal of Obstetrics & Gynecology 2009;Vol. (1):4152-3185.


J. Wang, Richness of human gut microbiome correlates with metabolic markers et al. 2013.. Nature.   500:541-6.

J. Wang, Recalibrating Equus evolution using the genome sequence of an early Middle Pleistocene horse.. 2013. Nature.

J. Wang. Draft genome of the wheat A-genome progenitor Triticum urartu 2013.. Nature. 496:87-90.


J. Wang, Aegilops tauschii draft genome sequence reveals a gene repertoire for wheat adaptation.  2013. Nature. 496:87-90.


J. Wang, Genomic landscapes of Chinese hamster ovary cell lines as revealed by the Cricetulus griseus draft genome. . 2013. Nat Biotechnol. 31:759-65.


Wang, Draft genome sequence of the Tibetan antelope. al. 2013. Nat Commun. 4:1858.

J. Wang. The draft genomes of soft-shell turtle and green sea turtle yield insights into the development and evolution of the turtle-specific body plan,    2013.. Nat Genetics. Apr 28.  

J. Wang. Peregrine and saker falcon genome sequences provide insights into evolution of a predatory lifestyle M. Bruford. 2013.. Nat Genetics. Mar 24.


J. Wang..Whole-genome sequencing of Oryza brachyantha reveals mechanisms underlying Oryza genome evolution 2013.. Nat Commun. 4:1595.


J. Wang.  Genome of the Chinese tree shrew 2013.. Nat Commun. 4:1426.

J. Wang. A Short-Read Multiplex Sequencing Method for Reliable, Cost-Effective and High-Throughput Genotyping in Large-Scale Studies. 2013. Hum Mutat. Sep 6

J. Wang. Exome Sequencing and Functional Analysis Identifies a Novel Mutation in EXT1 Gene That Causes Multiple Osteochondromas 2013.. PLoS One. 2013 8:e72316.

J. Wang  The sacred lotus genome provides insights into the evolution of flowering plants.     . 2013. Plant J. Aug 16

J. Wang. Whole-exome sequencing identifies a polymorphism in the BMP5 gene associated with SSRI treatment response in major depression .Psychopharmacol. Aug 7.

J. Wang . The genome sequence of the ground tit Pseudopodoces humilis provides insights into its adaptation to high altitude. 2013 Genome Biol. 14:R29.
J. Wang. Detection of  Clinically Relevant Genetic Variants in Autism Spectrum Disorder by Whole-Genome Sequencing. Am J Hum Genet. Jul 10
J. Wang. Whole genome sequencing identifies recurrent mutations in hepatocellular carcinoma. 2013 .Genome Res. Jun 20
J. Wang. A method for non-invasive detection of fetal large deletions/duplications by low coverage massively parallel sequencing. 2013 Prenat Diagn. Apr 16 .
J. Wang. An Integrated Tool to Study MHC Region: Accurate SNV Detection and HLA Genes Typing in Human MHC Region Using Targeted High-Throughput Sequencing.2013. PLoS One. 8:e69388.
Al-Aama J, M.Armstrong L. Lako.  A human induced pluripotent stem cell model of Cernunnos deficiency reveals an important role for XLF in the survival of the primitive haematopoietic progenitors. 2013 Stem Cells (in press, doi: 10.1002/stem.1456).

Al-Aama J, Armstrong L, Lako M.  A human iPSC model of Ligase IV deficiency reveals an important role for NHEJ-mediated-DSB repair in the survival and genomic stability of induced pluripotent stem cells and emerging haematopoietic progenitors. 2013 .Cell Death and Differentiation 20:1089-100.

Al-Aama J, Lako M, Armstrong L . Induced pluripotent stem cell modelling of Hypoplastic Left Heart Syndrome.2013. Stem Cell Translational Medicine (under final review).

Panos Deloukas. Rare loss-of-function mutations in the APOC3 gene, plasma triglycerides, and risk for coronary heart disease. New England Journal of Medicine.

Panos Deloukas, Jun Wang .Differential Methylation Of The TRPA1 Promoter In Pain Sensitivity. 2013. Nature Communications
Panos Deloukas. Epigenetic changes in the hypoxia-inducible factor alpha 3 gene associate with body mass index: a genome-wide analysis of methylation.2013 

Panos Deloukas. Cigarette Smoking Reduces DNA Methylation Levels at Multiple Genomic Loci but the Effect is Partially Reversible upon Cessation. PLOS Genetics.2013 

Panos Deloukas .Genetic Regulation of Gene Co-Expression. 2013. Genome Research

Panos Deloukas. Low number of copies of the salivary amylase gene predisposes to obesity. 2013.Nature Genetics.  


Panos Deloukas. Defining the role of common variation in the genomic and biological architecture of adult human height GIANT Consortium (420 authors) – Nature .

Panos Deloukas, Jun Wang .Uncovering novel susceptibility genes for type 2 diabetes: an integrated omics and epigenomics approach in monozygotic twins. 2013 .Submitted to Genome Research
Panos Deloukas . Large-scale genetic studies of body mass index provide insight into the biological basis of obesity.2013. submitted to Nature Genetics
Panos Deloukas. Gene-Lifestyle Interaction and Type 2 Diabetes. 2013. submitted to PLOS Medicine
Panos Deloukas. Genome-wide meta-analysis identifies six novel loci associated with habitual coffee consumption. 2013. submitted to Nature Genetics
Panos Deloukas. Epigenome-wide DNA methylation in hearing ability: new mechanisms for an old problem. 2013 .PLOS ONE

Not ISI Journal


Al-Sabban A, Ahmed S, Jumana Y. Al-Aama. “The effectiveness of thyroxine in the treatment of Down syndrome children with Hypothyroidism (Congenital or Subclinical): A systematic review 2011. Submitted for publication


Jumana Y. Al-Aama. Clinical Genetics: Practical Applications for Dentists and Oral  Surgeons.    Saudi Dental Journal 2008; 20(SI)-Abstr.064


Adeel G. Chaudhary, Mohammed H. Alqahtani, Adel Abuzenadah, Mamdooh Gari, Abeer A. Al-     Sofyani, Jumana Y. Al-Aama, Sahira A. Lary, Aisha H. Elaimi.Mutation analysis in Saudi Duchenne and Becker muscular dystrophy patients using multiplex PCR. Arch Med Sci 2008; 4, 1: 16–21


Abdullah L, Bondagji NS.   Histopathological patterns of testicular biopsy in male infertility: A retrospective study from a tertiary care center in the western part of Saudi Arabia. Urol Ann. 2011 Jan;3(1):19-23.   (Published).


Nabeel S. Bondagji.   Conservative Management of Massive Intraperitoneal Hemorrhage from Corpus Luteum Cyst in a Patient on Anticoagulant Therapy  Post Fontan Procedure.JKAU:Med .Sci,2011.18;(4) . (published).


Nabeel Bondagji, Hisham Ramadani . Early maternal and neonatal morbidity associated with vacume extractor (ventouse) delivery in second stage  of labor .Ben Med J 2012 (published ).        


Layla S Abdullah and Nabeel S BondagjiHistopathological Pattern of Endometrial Sampling Performed for Abnormal Uterine Bleeding. Bahrain medical bulletin ,December 2011  (published).


Al-Aama J, Shaabat A. Status Epilepticus: Can the Incidence be Reduced? Neurosciences 002; Vol. 7 (4): 236-241 


Al-Aama J, Saadi S. Testicular Torsion: An Antenatal Event? Saudi J Obst Gynecol; July 2002,     vol 2, No3, 153-157


Nabeel Bondagji .Ischemic Heart in pregnancy, Journal Of The Saudi Heart Association April ,2012,(published).

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آخر تحديث 1/23/2014 2:36:37 PM