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Items: 1 to 50 of 217

1.

A proposal for comprehensive newborn hearing screening to improve identification of deaf and hard-of-hearing children.

Shearer AE, Shen J, Amr S, Morton CC, Smith RJ; Newborn Hearing Screening Working Group of the National Coordinating Center for the Regional Genetics Networks.

Genet Med. 2019 Jun 7. doi: 10.1038/s41436-019-0563-5. [Epub ahead of print]

PMID:
31171844
2.

Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel.

Shen J, Oza AM, Del Castillo I, Duzkale H, Matsunaga T, Pandya A, Kang HP, Mar-Heyming R, Guha S, Moyer K, Lo C, Kenna M, Alexander JJ, Zhang Y, Hirsch Y, Luo M, Cao Y, Wai Choy K, Cheng YF, Avraham KB, Hu X, Garrido G, Moreno-Pelayo MA, Greinwald J, Zhang K, Zeng Y, Brownstein Z, Basel-Salmon L, Davidov B, Frydman M, Weiden T, Nagan N, Willis A, Hemphill SE, Grant AR, Siegert RK, DiStefano MT, Amr SS, Rehm HL, Abou Tayoun AN; ClinGen Hearing Loss Working Group.

Genet Med. 2019 Jun 4. doi: 10.1038/s41436-019-0535-9. [Epub ahead of print]

PMID:
31160754
3.

Correction: ClinGen expert clinical validity curation of 164 hearing loss gene-disease pairs.

DiStefano MT, Hemphill SE, Oza AM, Siegert RK, Grant AR, Hughes MY, Cushman BJ, Azaiez H, Booth KT, Chapin A, Duzkale H, Matsunaga T, Shen J, Zhang W, Kenna M, Schimmenti LA, Tekin M, Rehm HL, Tayoun ANA, Amr SS; ClinGen Hearing Loss Clinical Domain Working Group.

Genet Med. 2019 May 22. doi: 10.1038/s41436-019-0553-7. [Epub ahead of print]

PMID:
31114025
4.

Metastasizing Malignant Granular Cell Tumor (Abrikossoff Tumor) of the Anterior Abdominal Wall, with Prolonged Survival.

Alnashwan YA, Ali KAH, Amr SS.

Case Rep Pathol. 2019 Apr 7;2019:9576487. doi: 10.1155/2019/9576487. eCollection 2019.

5.

Data on the absorbance of glucose during the acid hydrolysis of the sugarcane bagasse.

Alkarkhi AFM, Alqaraghuli WAA, Yusup Y, Abu Amr SS, Mahmud MN, Dewayantoa N.

Data Brief. 2019 Apr 3;24:103894. doi: 10.1016/j.dib.2019.103894. eCollection 2019 Jun.

6.

ClinGen expert clinical validity curation of 164 hearing loss gene-disease pairs.

DiStefano MT, Hemphill SE, Oza AM, Siegert RK, Grant AR, Hughes MY, Cushman BJ, Azaiez H, Booth KT, Chapin A, Duzkale H, Matsunaga T, Shen J, Zhang W, Kenna M, Schimmenti LA, Tekin M, Rehm HL, Tayoun ANA, Amr SS; ClinGen Hearing Loss Clinical Domain Working Group.

Genet Med. 2019 Mar 21. doi: 10.1038/s41436-019-0487-0. [Epub ahead of print] Erratum in: Genet Med. 2019 May 22;:.

PMID:
30894701
7.
8.

Novel CERKL variant in consanguineous Jordanian pedigrees with inherited retinal dystrophies.

Azab B, Barham R, Ali D, Dardas Z, Rashdan L, Bijawi M, Maswadi R, Awidi A, Jafar H, Abu-Ameerh M, Al-Bdour M, Amr S, Awidi A.

Can J Ophthalmol. 2019 Feb;54(1):51-59. doi: 10.1016/j.jcjo.2018.02.018. Epub 2018 Apr 10.

PMID:
30851774
9.

Gastrointestinal stromal tumors. A clinicopathological study.

Alghamdi HM, Amr SS, Shawarby MA, Sheikh SS, Alsayyah AA, Alamri AM, Ismail MH, Almarhabi A, Alrefaee MA, Ahmed MI.

Saudi Med J. 2019 Feb;40(2):126-130. doi: 10.15537/smj.2019.2.23913.

10.

Histopathology of the Inner Ear in Charcot-Marie-Tooth Syndrome Caused by a Missense Variant (p.Thr65Ala) in the MPZ Gene.

Nadol JB Jr, Hedley-Whyte ET, Amr SS, O Apos Malley JT, Kamakura T.

Audiol Neurootol. 2018;23(6):326-334. doi: 10.1159/000495176. Epub 2019 Jan 24.

PMID:
30677751
11.

Body mass index modifies bladder cancer risk associated with low estrogen exposure among Egyptian women after menopause.

Amr S, Wolpert BJ, St George DM, James I, Loffredo CA.

Cancer Causes Control. 2019 Mar;30(3):249-258. doi: 10.1007/s10552-019-1131-7. Epub 2019 Jan 21.

PMID:
30666489
13.

Cancer Risk in Myotonic Dystrophy Type I: Evidence of a Role for Disease Severity.

Alsaggaf R, St George DMM, Zhan M, Pfeiffer RM, Wang Y, Wagner KR, Greene MH, Amr S, Gadalla SM.

JNCI Cancer Spectr. 2018 Nov;2(4):pky052. doi: 10.1093/jncics/pky052. Epub 2018 Dec 10.

PMID:
30556050
14.

Mitochondrial gene sequence variants in children with severe malaria anaemia with or without lactic acidosis: a case control study.

Fowler C, Cserti-Gazdewich C, Dhabangi A, Musoke C, Sharma H, Amr SS, Dzik W.

Malar J. 2018 Dec 13;17(1):467. doi: 10.1186/s12936-018-2618-5.

15.

Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss.

Oza AM, DiStefano MT, Hemphill SE, Cushman BJ, Grant AR, Siegert RK, Shen J, Chapin A, Boczek NJ, Schimmenti LA, Murry JB, Hasadsri L, Nara K, Kenna M, Booth KT, Azaiez H, Griffith A, Avraham KB, Kremer H, Rehm HL, Amr SS, Abou Tayoun AN; ClinGen Hearing Loss Clinical Domain Working Group.

Hum Mutat. 2018 Nov;39(11):1593-1613. doi: 10.1002/humu.23630.

PMID:
30311386
16.

The eMERGE genotype set of 83,717 subjects imputed to ~40 million variants genome wide and association with the herpes zoster medical record phenotype.

Stanaway IB, Hall TO, Rosenthal EA, Palmer M, Naranbhai V, Knevel R, Namjou-Khales B, Carroll RJ, Kiryluk K, Gordon AS, Linder J, Howell KM, Mapes BM, Lin FTJ, Joo YY, Hayes MG, Gharavi AG, Pendergrass SA, Ritchie MD, de Andrade M, Croteau-Chonka DC, Raychaudhuri S, Weiss ST, Lebo M, Amr SS, Carrell D, Larson EB, Chute CG, Rasmussen-Torvik LJ, Roy-Puckelwartz MJ, Sleiman P, Hakonarson H, Li R, Karlson EW, Peterson JF, Kullo IJ, Chisholm R, Denny JC, Jarvik GP; eMERGE Network, Crosslin DR.

Genet Epidemiol. 2019 Feb;43(1):63-81. doi: 10.1002/gepi.22167. Epub 2018 Oct 8.

17.

Gallbladder cancer in Eastern Province of Saudi Arabia: A retrospective cohort study.

Aldossary MY, Alayed AA, Amr SS, Alqahtani S, Alnahawi M, Alqahtani MS.

Ann Med Surg (Lond). 2018 Sep 26;35:117-123. doi: 10.1016/j.amsu.2018.09.020. eCollection 2018 Nov.

18.

Primary squamous cell carcinoma of the gallbladder: Report of a rare neoplasm from the Eastern Province of Saudi Arabia.

Aldossary MY, Alayed AA, Amr S, Alqahtani MS.

Int J Surg Case Rep. 2018;51:186-189. doi: 10.1016/j.ijscr.2018.08.048. Epub 2018 Aug 30.

19.

Racial and Ethnic Differences in the Relationship between Aspirin Use and Non-Small Cell Lung Cancer Risk and Survival.

Erickson P, Gardner LD, Loffredo CA, St George DM, Bowman ED, Deepak J, Mitchell K, Meaney CL, Langenberg P, Bernat DH, Amr S, Ryan BM.

Cancer Epidemiol Biomarkers Prev. 2018 Dec;27(12):1518-1526. doi: 10.1158/1055-9965.EPI-18-0366. Epub 2018 Aug 31.

PMID:
30171037
20.

Curating Clinically Relevant Transcripts for the Interpretation of Sequence Variants.

DiStefano MT, Hemphill SE, Cushman BJ, Bowser MJ, Hynes E, Grant AR, Siegert RK, Oza AM, Gonzalez MA, Amr SS, Rehm HL, Abou Tayoun AN.

J Mol Diagn. 2018 Nov;20(6):789-801. doi: 10.1016/j.jmoldx.2018.06.005. Epub 2018 Aug 8.

PMID:
30096381
21.

Mediastinal Ectopic Pancreas with Abundant Endocrine Cells Coexisting with Mediastinal Cyst and Thymic Hyperplasia.

Snak Y, Dwianingsih EK, Sumpono ASB, Panji R, Rahman A, Ghozali A, Amr SS.

Case Rep Pathol. 2018 May 27;2018:8270516. doi: 10.1155/2018/8270516. eCollection 2018.

22.

Comparison between radiofrequency ablation and chemical neurolysis of thoracic splanchnic nerves for the management of abdominal cancer pain, randomized trial.

Amr SA, Reyad RM, Othman AH, Mohamad MF, Mostafa MM, Alieldin NH, Hamed FA.

Eur J Pain. 2018 Nov;22(10):1782-1790. doi: 10.1002/ejp.1274. Epub 2018 Jul 11.

PMID:
29975804
23.

Performance of combined persulfate/aluminum sulfate for landfill leachate treatment.

Abu Amr SS, Alkarkhi AFM, Alslaibi TM, Abujazar MSS.

Data Brief. 2018 May 24;19:951-958. doi: 10.1016/j.dib.2018.05.111. eCollection 2018 Aug.

24.

Evaluation and comparison the performance of titanium and zirconium(IV) tetrachloride in textile wastewater treatment.

Aziz HA, Razak MHA, Rahim MZA, Kamar WISW, Abu Amr SS, Hussain S, Van Leeuwen J.

Data Brief. 2018 Mar 28;18:920-927. doi: 10.1016/j.dib.2018.03.113. eCollection 2018 Jun.

25.

Associations between history of chronic lung disease and non-small cell lung carcinoma in Maryland: variations by sex and race.

Gardner LD, Loffredo PhD CA, Langenberg P, George DMS, Deepak J, Harris CC, Amr S.

Ann Epidemiol. 2018 Aug;28(8):543-548. doi: 10.1016/j.annepidem.2018.04.012. Epub 2018 May 7.

26.

Urinary Bladder Cancer in Egypt: Are There Gender Differences in Its Histopathological Presentation?

Kyritsi F, Loffredo CA, Zheng YL, Philips G, Amr S.

Adv Urol. 2018 Mar 13;2018:3453808. doi: 10.1155/2018/3453808. eCollection 2018.

27.

Analysis of intragenic USH2A copy number variation unveils broad spectrum of unique and recurrent variants.

Austin-Tse CA, Mandelker DL, Oza AM, Mason-Suares H, Rehm HL, Amr SS.

Eur J Med Genet. 2018 Oct;61(10):621-626. doi: 10.1016/j.ejmg.2018.04.006. Epub 2018 Apr 12.

PMID:
29655801
28.

Allele-Specific Droplet Digital PCR Combined with a Next-Generation Sequencing-Based Algorithm for Diagnostic Copy Number Analysis in Genes with High Homology: Proof of Concept Using Stereocilin.

Amr SS, Murphy E, Duffy E, Niazi R, Balciuniene J, Luo M, Rehm HL, Abou Tayoun AN.

Clin Chem. 2018 Apr;64(4):705-714. doi: 10.1373/clinchem.2017.280685. Epub 2018 Jan 16.

29.

Postmarket Safety Outcomes for New Molecular Entity (NME) Drugs Approved by the Food and Drug Administration Between 2002 and 2014.

Pinnow E, Amr S, Bentzen SM, Brajovic S, Hungerford L, St George DM, Dal Pan G.

Clin Pharmacol Ther. 2018 Aug;104(2):390-400. doi: 10.1002/cpt.944. Epub 2017 Dec 20.

PMID:
29266187
30.

Empirical comparison of reduced representation bisulfite sequencing and Infinium BeadChip reproducibility and coverage of DNA methylation in humans.

Carmona JJ, Accomando WP Jr, Binder AM, Hutchinson JN, Pantano L, Izzi B, Just AC, Lin X, Schwartz J, Vokonas PS, Amr SS, Baccarelli AA, Michels KB.

NPJ Genom Med. 2017 Apr 19;2:13. doi: 10.1038/s41525-017-0012-9. eCollection 2017.

31.

Recurrent variants in OTOF are significant contributors to prelingual nonsydromic hearing loss in Saudi patients.

Almontashiri NAM, Alswaid A, Oza A, Al-Mazrou KA, Elrehim O, Tayoun AA, Rehm HL, Amr SS.

Genet Med. 2018 Apr;20(5):536-544. doi: 10.1038/gim.2017.143. Epub 2017 Oct 19.

32.

Cutaneous Erythema at Scar Site of Modified Radical Mastectomy: An Unexpected Manifestation of Recurrent Carcinoma.

Nasralla AM, Al-Duhileb MA, Arini AJ, Amr SS.

Case Rep Surg. 2017;2017:6879626. doi: 10.1155/2017/6879626. Epub 2017 Aug 10.

33.

Risk assessment of nitrate transport through subsurface layers and groundwater using experimental and modeling approach.

Alslaibi TM, Abunada Z, Abu Amr SS, Abustan I.

Environ Technol. 2018 Nov;39(21):2691-2702. doi: 10.1080/09593330.2017.1365936. Epub 2017 Sep 22.

PMID:
28789588
34.

Novel frameshift variant in the IDUA gene underlies Mucopolysaccharidoses type I in a consanguineous Yemeni pedigree.

Azab B, Dardas Z, Hamarsheh M, Alsalem M, Kilani Z, Kilani F, Awidi A, Jafar H, Amr S.

Mol Genet Metab Rep. 2017 Jun 9;12:76-79. doi: 10.1016/j.ymgmr.2017.06.001. eCollection 2017 Sep.

35.

Electro persulphate oxidation for polishing of biologically treated palm oil mill effluent (POME).

Bashir MJK, Wei CJ, Aun NC, Abu Amr SS.

J Environ Manage. 2017 May 15;193:458-469. doi: 10.1016/j.jenvman.2017.02.031. Epub 2017 Mar 2.

PMID:
28262420
36.

Post-treatment of palm oil mill effluent (POME) using combined persulphate with hydrogen peroxide (S2O82-/H2O2) oxidation.

Lin CK, Bashir MJ, Abu Amr SS, Sim LC.

Water Sci Technol. 2016 Dec;74(11):2675-2682.

PMID:
27973372
37.

Radical resection and improvised surgical reconstruction for a rare malignant triton tumour of intercostal nerve in a patient with neurofibromatosis type 1.

Chaudhry IU, Cheema AI, Mutari H, Amr SS.

BMJ Case Rep. 2016 Dec 8;2016. pii: bcr2016217868. doi: 10.1136/bcr-2016-217868.

38.

Evaluating photo-degradation of COD and TOC in petroleum refinery wastewater by using TiO2/ZnO photo-catalyst.

Aljuboury DA, Palaniandy P, Abdul Aziz HB, Feroz S, Abu Amr SS.

Water Sci Technol. 2016 Sep;74(6):1312-1325.

PMID:
27685961
39.

Characteristics of Men Who Report Persistent Sexual Symptoms After Finasteride Use for Hair Loss.

Basaria S, Jasuja R, Huang G, Wharton W, Pan H, Pencina K, Li Z, Travison TG, Bhawan J, Gonthier R, Labrie F, Dury AY, Serra C, Papazian A, O'Leary M, Amr S, Storer TW, Stern E, Bhasin S.

J Clin Endocrinol Metab. 2016 Dec;101(12):4669-4680. Epub 2016 Sep 23.

40.

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
41.

CD10 and CD138 can be expressed in giant cell tumor of bone: An immunohistochemical study.

Al-Abbadi MA, Al-Yousef MJ, Yousef MM, Sheikh SS, Almasri NM, Amr SS.

Avicenna J Med. 2016 Jul-Sep;6(3):69-74. doi: 10.4103/2231-0770.184063.

42.

Malignant peripheral nerve sheath tumor with extensive osteosarcomatous and chondrosarcomatous differentiation: A case report.

Meshikhes AW, Duhaileb MA, Amr SS.

Int J Surg Case Rep. 2016;25:188-91. doi: 10.1016/j.ijscr.2016.06.041. Epub 2016 Jun 29.

43.

Polishing of treated palm oil mill effluent (POME) from ponding system by electrocoagulation process.

Bashir MJ, Mau Han T, Jun Wei L, Choon Aun N, Abu Amr SS.

Water Sci Technol. 2016;73(11):2704-12. doi: 10.2166/wst.2016.123.

PMID:
27232407
44.

Associations between Depressive Symptoms and 30-day Hospital Readmission among Older Adults.

Berges IM, Amr S, Abraham DS, Cannon DL, Ostir GV.

J Depress Anxiety. 2015 Apr;4(2). pii: 185. Epub 2015 Apr 24.

45.

Next generation sequencing-based copy number analysis reveals low prevalence of deletions and duplications in 46 genes associated with genetic cardiomyopathies.

Ceyhan-Birsoy O, Pugh TJ, Bowser MJ, Hynes E, Frisella AL, Mahanta LM, Lebo MS, Amr SS, Funke BH.

Mol Genet Genomic Med. 2015 Dec 16;4(2):143-51. doi: 10.1002/mgg3.187. eCollection 2016 Mar.

46.

Nonoccupational exposure to agricultural work and risk of urinary bladder cancer among Egyptian women.

Jackson SS, St George DM, Loffredo CA, Amr S.

Arch Environ Occup Health. 2017 May 4;72(3):166-172. doi: 10.1080/19338244.2016.1169155. Epub 2016 Mar 30.

47.

The Translational Genomics Core at Partners Personalized Medicine: Facilitating the Transition of Research towards Personalized Medicine.

Blau A, Brown A, Mahanta L, Amr SS.

J Pers Med. 2016 Feb 26;6(1). pii: E10. doi: 10.3390/jpm6010010.

48.

HIV Integration Site Analysis of Cellular Models of HIV Latency with a Probe-Enriched Next-Generation Sequencing Assay.

Sunshine S, Kirchner R, Amr SS, Mansur L, Shakhbatyan R, Kim M, Bosque A, Siliciano RF, Planelles V, Hofmann O, Ho Sui S, Li JZ.

J Virol. 2016 Apr 14;90(9):4511-4519. doi: 10.1128/JVI.01617-15. Print 2016 May.

49.

Response Surface Optimization of Bioethanol Production from Sugarcane Molasses by Pichia veronae Strain HSC-22.

Hamouda HI, Nassar HN, Madian HR, Abu Amr SS, El-Gendy NSh.

Biotechnol Res Int. 2015;2015:905792. doi: 10.1155/2015/905792. Epub 2015 Dec 8.

50.

Optimization of leachate treatment using persulfate/H2O2 based advanced oxidation process: case study: Deir El-Balah Landfill Site, Gaza Strip, Palestine.

Hilles AH, Abu Amr SS, Hussein RA, Arafa AI, El-Sebaie OD.

Water Sci Technol. 2016;73(1):102-12. doi: 10.2166/wst.2015.468.

PMID:
26744940

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