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Items: 1 to 50 of 90

1.

Bioinformatics for medical students: a 5-year experience using OMIM® in medical student education.

Lee-Barber J, Kulo V, Lehmann H, Hamosh A, Bodurtha J.

Genet Med. 2018 Jun 21. doi: 10.1038/s41436-018-0076-7. [Epub ahead of print]

PMID:
29930391
2.
3.

Matchmaker Exchange.

Sobreira NLM, Arachchi H, Buske OJ, Chong JX, Hutton B, Foreman J, Schiettecatte F, Groza T, Jacobsen JOB, Haendel MA, Boycott KM, Hamosh A, Rehm HL; Matchmaker Exchange Consortium.

Curr Protoc Hum Genet. 2017 Oct 18;95:9.31.1-9.31.15. doi: 10.1002/cphg.50.

PMID:
29044468
4.

"Matching" consent to purpose: The example of the Matchmaker Exchange.

Dyke SOM, Knoppers BM, Hamosh A, Firth HV, Hurles M, Brudno M, Boycott KM, Philippakis AA, Rehm HL.

Hum Mutat. 2017 Oct;38(10):1281-1285. doi: 10.1002/humu.23278. Epub 2017 Jul 12.

PMID:
28699299
5.

Searching Online Mendelian Inheritance in Man (OMIM): A Knowledgebase of Human Genes and Genetic Phenotypes.

Amberger JS, Hamosh A.

Curr Protoc Bioinformatics. 2017 Jun 27;58:1.2.1-1.2.12. doi: 10.1002/cpbi.27. Review.

6.

Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay.

Weiss K, Wigby K, Fannemel M, Henderson LB, Beck N, Ghali N, Study DDD, Anderlid BM, Lundin J, Hamosh A, Jones MC, Ghedia S, Muenke M, Kruszka P.

Eur J Hum Genet. 2017 Aug;25(8):946-951. doi: 10.1038/ejhg.2017.86. Epub 2017 May 17.

PMID:
28513610
7.

International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases.

Boycott KM, Rath A, Chong JX, Hartley T, Alkuraya FS, Baynam G, Brookes AJ, Brudno M, Carracedo A, den Dunnen JT, Dyke SOM, Estivill X, Goldblatt J, Gonthier C, Groft SC, Gut I, Hamosh A, Hieter P, Höhn S, Hurles ME, Kaufmann P, Knoppers BM, Krischer JP, Macek M Jr, Matthijs G, Olry A, Parker S, Paschall J, Philippakis AA, Rehm HL, Robinson PN, Sham PC, Stefanov R, Taruscio D, Unni D, Vanstone MR, Zhang F, Brunner H, Bamshad MJ, Lochmüller H.

Am J Hum Genet. 2017 May 4;100(5):695-705. doi: 10.1016/j.ajhg.2017.04.003.

8.

The Human Phenotype Ontology in 2017.

Köhler S, Vasilevsky NA, Engelstad M, Foster E, McMurry J, Aymé S, Baynam G, Bello SM, Boerkoel CF, Boycott KM, Brudno M, Buske OJ, Chinnery PF, Cipriani V, Connell LE, Dawkins HJ, DeMare LE, Devereau AD, de Vries BB, Firth HV, Freson K, Greene D, Hamosh A, Helbig I, Hum C, Jähn JA, James R, Krause R, F Laulederkind SJ, Lochmüller H, Lyon GJ, Ogishima S, Olry A, Ouwehand WH, Pontikos N, Rath A, Schaefer F, Scott RH, Segal M, Sergouniotis PI, Sever R, Smith CL, Straub V, Thompson R, Turner C, Turro E, Veltman MW, Vulliamy T, Yu J, von Ziegenweidt J, Zankl A, Züchner S, Zemojtel T, Jacobsen JO, Groza T, Smedley D, Mungall CJ, Haendel M, Robinson PN.

Nucleic Acids Res. 2017 Jan 4;45(D1):D865-D876. doi: 10.1093/nar/gkw1039. Epub 2016 Nov 28. Review.

9.

KIF5A mutations cause an infantile onset phenotype including severe myoclonus with evidence of mitochondrial dysfunction.

Duis J, Dean S, Applegate C, Harper A, Xiao R, He W, Dollar JD, Sun LR, Waberski MB, Crawford TO, Hamosh A, Stafstrom CE.

Ann Neurol. 2016 Oct;80(4):633-7. doi: 10.1002/ana.24744. Epub 2016 Aug 24.

10.

The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families.

Fountain MD, Aten E, Cho MT, Juusola J, Walkiewicz MA, Ray JW, Xia F, Yang Y, Graham BH, Bacino CA, Potocki L, van Haeringen A, Ruivenkamp CA, Mancias P, Northrup H, Kukolich MK, Weiss MM, van Ravenswaaij-Arts CM, Mathijssen IB, Levesque S, Meeks N, Rosenfeld JA, Lemke D, Hamosh A, Lewis SK, Race S, Stewart LL, Hay B, Lewis AM, Guerreiro RL, Bras JT, Martins MP, Derksen-Lubsen G, Peeters E, Stumpel C, Stegmann S, Bok LA, Santen GW, Schaaf CP.

Genet Med. 2017 Jan;19(1):45-52. doi: 10.1038/gim.2016.53. Epub 2016 May 19. Erratum in: Genet Med. 2016 Oct;18(10):1066.

11.

The management of pregnancy and delivery in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.

Pipitone A, Raval DB, Duis J, Vernon H, Martin R, Hamosh A, Valle D, Gunay-Aygun M.

Am J Med Genet A. 2016 Jun;170(6):1600-2. doi: 10.1002/ajmg.a.37620. Epub 2016 Mar 21.

12.

EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy.

Byrne S, Jansen L, U-King-Im JM, Siddiqui A, Lidov HG, Bodi I, Smith L, Mein R, Cullup T, Dionisi-Vici C, Al-Gazali L, Al-Owain M, Bruwer Z, Al Thihli K, El-Garhy R, Flanigan KM, Manickam K, Zmuda E, Banks W, Gershoni-Baruch R, Mandel H, Dagan E, Raas-Rothschild A, Barash H, Filloux F, Creel D, Harris M, Hamosh A, Kölker S, Ebrahimi-Fakhari D, Hoffmann GF, Manchester D, Boyer PJ, Manzur AY, Lourenco CM, Pilz DT, Kamath A, Prabhakar P, Rao VK, Rogers RC, Ryan MM, Brown NJ, McLean CA, Said E, Schara U, Stein A, Sewry C, Travan L, Wijburg FA, Zenker M, Mohammed S, Fanto M, Gautel M, Jungbluth H.

Brain. 2016 Mar;139(Pt 3):765-81. doi: 10.1093/brain/awv393.

13.

Genotype-phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN-related epilepsy.

Fleming L, Lemmon M, Beck N, Johnson M, Mu W, Murdock D, Bodurtha J, Hoover-Fong J, Cohn R, Bosemani T, Barañano K, Hamosh A.

Am J Med Genet A. 2016 Jan;170A(1):77-86. doi: 10.1002/ajmg.a.37369. Epub 2015 Sep 23.

14.

Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss.

Tanaka AJ, Cho MT, Millan F, Juusola J, Retterer K, Joshi C, Niyazov D, Garnica A, Gratz E, Deardorff M, Wilkins A, Ortiz-Gonzalez X, Mathews K, Panzer K, Brilstra E, van Gassen KL, Volker-Touw CM, van Binsbergen E, Sobreira N, Hamosh A, McKnight D, Monaghan KG, Chung WK.

Am J Hum Genet. 2015 Sep 3;97(3):457-64. doi: 10.1016/j.ajhg.2015.07.014. Epub 2015 Aug 20.

15.

The Matchmaker Exchange: a platform for rare disease gene discovery.

Philippakis AA, Azzariti DR, Beltran S, Brookes AJ, Brownstein CA, Brudno M, Brunner HG, Buske OJ, Carey K, Doll C, Dumitriu S, Dyke SO, den Dunnen JT, Firth HV, Gibbs RA, Girdea M, Gonzalez M, Haendel MA, Hamosh A, Holm IA, Huang L, Hurles ME, Hutton B, Krier JB, Misyura A, Mungall CJ, Paschall J, Paten B, Robinson PN, Schiettecatte F, Sobreira NL, Swaminathan GJ, Taschner PE, Terry SF, Washington NL, Züchner S, Boycott KM, Rehm HL.

Hum Mutat. 2015 Oct;36(10):915-21. doi: 10.1002/humu.22858.

16.

GeneMatcher: a matching tool for connecting investigators with an interest in the same gene.

Sobreira N, Schiettecatte F, Valle D, Hamosh A.

Hum Mutat. 2015 Oct;36(10):928-30. doi: 10.1002/humu.22844. Epub 2015 Aug 13.

17.

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities.

Chong JX, Buckingham KJ, Jhangiani SN, Boehm C, Sobreira N, Smith JD, Harrell TM, McMillin MJ, Wiszniewski W, Gambin T, Coban Akdemir ZH, Doheny K, Scott AF, Avramopoulos D, Chakravarti A, Hoover-Fong J, Mathews D, Witmer PD, Ling H, Hetrick K, Watkins L, Patterson KE, Reinier F, Blue E, Muzny D, Kircher M, Bilguvar K, López-Giráldez F, Sutton VR, Tabor HK, Leal SM, Gunel M, Mane S, Gibbs RA, Boerwinkle E, Hamosh A, Shendure J, Lupski JR, Lifton RP, Valle D, Nickerson DA; Centers for Mendelian Genomics, Bamshad MJ.

Am J Hum Genet. 2015 Aug 6;97(2):199-215. doi: 10.1016/j.ajhg.2015.06.009. Epub 2015 Jul 9. Review.

18.
19.

Assessment of incidental findings in 232 whole-exome sequences from the Baylor-Hopkins Center for Mendelian Genomics.

Jurgens J, Ling H, Hetrick K, Pugh E, Schiettecatte F, Doheny K, Hamosh A, Avramopoulos D, Valle D, Sobreira N.

Genet Med. 2015 Oct;17(10):782-8. doi: 10.1038/gim.2014.196. Epub 2015 Jan 8.

20.

OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders.

Amberger JS, Bocchini CA, Schiettecatte F, Scott AF, Hamosh A.

Nucleic Acids Res. 2015 Jan;43(Database issue):D789-98. doi: 10.1093/nar/gku1205. Epub 2014 Nov 26.

21.

Walking the interactome for candidate prioritization in exome sequencing studies of Mendelian diseases.

Smedley D, Köhler S, Czeschik JC, Amberger J, Bocchini C, Hamosh A, Veldboer J, Zemojtel T, Robinson PN.

Bioinformatics. 2014 Nov 15;30(22):3215-22. doi: 10.1093/bioinformatics/btu508. Epub 2014 Jul 30.

22.

Horizontal integration of OMIM across the medical school preclinical curriculum for early reinforcement of clinical genetics principles.

Diehl AC, Reader L, Hamosh A, Bodurtha JN.

Genet Med. 2015 Feb;17(2):158-63. doi: 10.1038/gim.2014.84. Epub 2014 Jul 17.

23.

Novel TUBB4A mutations and expansion of the neuroimaging phenotype of hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC).

Ferreira C, Poretti A, Cohen J, Hamosh A, Naidu S.

Am J Med Genet A. 2014 Jul;164A(7):1802-7. doi: 10.1002/ajmg.a.36526. Epub 2014 Apr 4. Review.

PMID:
24706558
24.

A novel presentation of DYT 16: acute onset in infancy and association with MRI abnormalities.

Lemmon ME, Lavenstein B, Applegate CD, Hamosh A, Tekes A, Singer HS.

Mov Disord. 2013 Dec;28(14):1937-8. doi: 10.1002/mds.25703. Epub 2013 Oct 18. No abstract available.

PMID:
24142417
25.

Chronic kidney disease in an adult with propionic acidemia.

Vernon HJ, Bagnasco S, Hamosh A, Sperati CJ.

JIMD Rep. 2014;12:5-10. doi: 10.1007/8904_2013_237. Epub 2013 Jun 12.

26.

Maternal hyperphenylalaninemia: rapid achievement of metabolic control predicts overall control throughout pregnancy.

Martino T, Koerner C, Yenokyan G, Hoover-Fong J, Hamosh A.

Mol Genet Metab. 2013 May;109(1):3-8. doi: 10.1016/j.ymgme.2013.02.009. Epub 2013 Feb 19.

27.

Three cases of isolated terminal deletion of chromosome 8p without heart defects presenting with a mild phenotype.

Burnside RD, Pappas JG, Sacharow S, Applegate C, Hamosh A, Gadi IK, Jaswaney V, Keitges E, Phillips KK, Potluri VR, Risheg H, Smith JL, Tepperberg JH, Schwartz S, Papenhausen P.

Am J Med Genet A. 2013 Apr;161A(4):822-8. doi: 10.1002/ajmg.a.35699. Epub 2013 Mar 12.

PMID:
23495222
28.

Getting ready for the Human Phenome Project: the 2012 forum of the Human Variome Project.

Oetting WS, Robinson PN, Greenblatt MS, Cotton RG, Beck T, Carey JC, Doelken SC, Girdea M, Groza T, Hamilton CM, Hamosh A, Kerner B, MacArthur JA, Maglott DR, Mons B, Rehm HL, Schofield PN, Searle BA, Smedley D, Smith CL, Bernstein IT, Zankl A, Zhao EY.

Hum Mutat. 2013 Apr;34(4):661-6. doi: 10.1002/humu.22293.

29.

PhenoDB: a new web-based tool for the collection, storage, and analysis of phenotypic features.

Hamosh A, Sobreira N, Hoover-Fong J, Sutton VR, Boehm C, Schiettecatte F, Valle D.

Hum Mutat. 2013 Apr;34(4):566-71. doi: 10.1002/humu.22283. Epub 2013 Mar 4.

30.

A diversified approach for PKU treatment: routine screening yields high incidence of psychiatric distress in phenylketonuria clinics.

Burton BK, Leviton L, Vespa H, Coon H, Longo N, Lundy BD, Johnson M, Angelino A, Hamosh A, Bilder D.

Mol Genet Metab. 2013 Jan;108(1):8-12. doi: 10.1016/j.ymgme.2012.11.003. Epub 2012 Nov 15.

PMID:
23266195
31.

Amplitude-integrated electroencephalography in newborns with inborn errors of metabolism.

Olischar M, Shany E, Aygün C, Azzopardi D, Hunt RW, Toet MC, Hamosh A, de Vries LS, Hellström-Westas L, Theda C.

Neonatology. 2012;102(3):203-11. Epub 2012 Jul 12.

PMID:
22797054
32.

The Centers for Mendelian Genomics: a new large-scale initiative to identify the genes underlying rare Mendelian conditions.

Bamshad MJ, Shendure JA, Valle D, Hamosh A, Lupski JR, Gibbs RA, Boerwinkle E, Lifton RP, Gerstein M, Gunel M, Mane S, Nickerson DA; Centers for Mendelian Genomics.

Am J Med Genet A. 2012 Jul;158A(7):1523-5. doi: 10.1002/ajmg.a.35470. Epub 2012 May 24.

33.

Characterization of complex chromosomal rearrangements by targeted capture and next-generation sequencing.

Sobreira NL, Gnanakkan V, Walsh M, Marosy B, Wohler E, Thomas G, Hoover-Fong JE, Hamosh A, Wheelan SJ, Valle D.

Genome Res. 2011 Oct;21(10):1720-7. doi: 10.1101/gr.122986.111. Epub 2011 Sep 2.

34.

American College of Medical Genetics recommendations for the design and performance expectations for clinical genomic copy number microarrays intended for use in the postnatal setting for detection of constitutional abnormalities.

Kearney HM, South ST, Wolff DJ, Lamb A, Hamosh A, Rao KW; Working Group of the American College of Medical Genetics.

Genet Med. 2011 Jul;13(7):676-9. doi: 10.1097/GIM.0b013e31822272ac.

PMID:
21681105
35.

A new face and new challenges for Online Mendelian Inheritance in Man (OMIM®).

Amberger J, Bocchini C, Hamosh A.

Hum Mutat. 2011 May;32(5):564-7. doi: 10.1002/humu.21466. Epub 2011 Apr 5.

PMID:
21472891
36.

Mosaic trisomy 13: understanding origin using SNP array.

Jinawath N, Zambrano R, Wohler E, Palmquist MK, Hoover-Fong J, Hamosh A, Batista DA.

J Med Genet. 2011 May;48(5):323-6. doi: 10.1136/jmg.2010.083931. Epub 2010 Nov 19.

PMID:
21097773
37.

Genomic analysis of partial 21q monosomies with variable phenotypes.

Roberson ED, Wohler ES, Hoover-Fong JE, Lisi E, Stevens EL, Thomas GH, Leonard J, Hamosh A, Pevsner J.

Eur J Hum Genet. 2011 Feb;19(2):235-8. doi: 10.1038/ejhg.2010.150. Epub 2010 Sep 8.

38.

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.

Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, Scherer SW, Spinner NB, Stavropoulos DJ, Tepperberg JH, Thorland EC, Vermeesch JR, Waggoner DJ, Watson MS, Martin CL, Ledbetter DH.

Am J Hum Genet. 2010 May 14;86(5):749-64. doi: 10.1016/j.ajhg.2010.04.006. Review.

39.

Introduction of sapropterin dihydrochloride as standard of care in patients with phenylketonuria.

Vernon HJ, Koerner CB, Johnson MR, Bergner A, Hamosh A.

Mol Genet Metab. 2010 Jul;100(3):229-33. doi: 10.1016/j.ymgme.2010.03.022. Epub 2010 Apr 3.

40.

False negative cystic fibrosis newborn screen.

Collaco JM, Panny SR, Hamosh A, Mogayzel PJ Jr.

Clin Pediatr (Phila). 2010 Mar;49(3):214-6. doi: 10.1177/0009922809342893. No abstract available.

PMID:
20164071
41.

Hydroxocobalamin dose escalation improves metabolic control in cblC.

Carrillo-Carrasco N, Sloan J, Valle D, Hamosh A, Venditti CP.

J Inherit Metab Dis. 2009 Dec;32(6):728-731. doi: 10.1007/s10545-009-1257-y. Epub 2009 Oct 10.

42.

3q29 interstitial microdeletion syndrome: an inherited case associated with cardiac defect and normal cognition.

Li F, Lisi EC, Wohler ES, Hamosh A, Batista DA.

Eur J Med Genet. 2009 Sep-Oct;52(5):349-52. doi: 10.1016/j.ejmg.2009.05.001. Epub 2009 May 19.

PMID:
19460468
43.

Planning the human variome project: the Spain report.

Kaput J, Cotton RG, Hardman L, Watson M, Al Aqeel AI, Al-Aama JY, Al-Mulla F, Alonso S, Aretz S, Auerbach AD, Bapat B, Bernstein IT, Bhak J, Bleoo SL, Blöcker H, Brenner SE, Burn J, Bustamante M, Calzone R, Cambon-Thomsen A, Cargill M, Carrera P, Cavedon L, Cho YS, Chung YJ, Claustres M, Cutting G, Dalgleish R, den Dunnen JT, Díaz C, Dobrowolski S, dos Santos MR, Ekong R, Flanagan SB, Flicek P, Furukawa Y, Genuardi M, Ghang H, Golubenko MV, Greenblatt MS, Hamosh A, Hancock JM, Hardison R, Harrison TM, Hoffmann R, Horaitis R, Howard HJ, Barash CI, Izagirre N, Jung J, Kojima T, Laradi S, Lee YS, Lee JY, Gil-da-Silva-Lopes VL, Macrae FA, Maglott D, Marafie MJ, Marsh SG, Matsubara Y, Messiaen LM, Möslein G, Netea MG, Norton ML, Oefner PJ, Oetting WS, O'Leary JC, de Ramirez AM, Paalman MH, Parboosingh J, Patrinos GP, Perozzi G, Phillips IR, Povey S, Prasad S, Qi M, Quin DJ, Ramesar RS, Richards CS, Savige J, Scheible DG, Scott RJ, Seminara D, Shephard EA, Sijmons RH, Smith TD, Sobrido MJ, Tanaka T, Tavtigian SV, Taylor GR, Teague J, Töpel T, Ullman-Cullere M, Utsunomiya J, van Kranen HJ, Vihinen M, Webb E, Weber TK, Yeager M, Yeom YI, Yim SH, Yoo HS; Contributors to the Human Variome Project Planning Meeting.

Hum Mutat. 2009 Apr;30(4):496-510. doi: 10.1002/humu.20972.

44.

Citrin deficiency, a perplexing global disorder.

Dimmock D, Maranda B, Dionisi-Vici C, Wang J, Kleppe S, Fiermonte G, Bai R, Hainline B, Hamosh A, O'Brien WE, Scaglia F, Wong LJ.

Mol Genet Metab. 2009 Jan;96(1):44-9. doi: 10.1016/j.ymgme.2008.10.007. Epub 2008 Nov 25.

PMID:
19036621
45.

McKusick's Online Mendelian Inheritance in Man (OMIM).

Amberger J, Bocchini CA, Scott AF, Hamosh A.

Nucleic Acids Res. 2009 Jan;37(Database issue):D793-6. doi: 10.1093/nar/gkn665. Epub 2008 Oct 8.

46.

3q29 interstitial microduplication: a new syndrome in a three-generation family.

Lisi EC, Hamosh A, Doheny KF, Squibb E, Jackson B, Galczynski R, Thomas GH, Batista DA.

Am J Med Genet A. 2008 Mar 1;146A(5):601-9. doi: 10.1002/ajmg.a.32190.

PMID:
18241066
47.

Survival after treatment with phenylacetate and benzoate for urea-cycle disorders.

Enns GM, Berry SA, Berry GT, Rhead WJ, Brusilow SW, Hamosh A.

N Engl J Med. 2007 May 31;356(22):2282-92.

48.

Heritability of lung disease severity in cystic fibrosis.

Vanscoy LL, Blackman SM, Collaco JM, Bowers A, Lai T, Naughton K, Algire M, McWilliams R, Beck S, Hoover-Fong J, Hamosh A, Cutler D, Cutting GR.

Am J Respir Crit Care Med. 2007 May 15;175(10):1036-43. Epub 2007 Mar 1.

49.

Microphthalmia with linear skin defects (MLS) syndrome evaluated by prenatal karyotyping, FISH and array comparative genomic hybridization.

Cain CC, Saul D, Attanasio L, Oehler E, Hamosh A, Blakemore K, Stetten G.

Prenat Diagn. 2007 Apr;27(4):373-9.

PMID:
17286317
50.

Relative contribution of genetic and nongenetic modifiers to intestinal obstruction in cystic fibrosis.

Blackman SM, Deering-Brose R, McWilliams R, Naughton K, Coleman B, Lai T, Algire M, Beck S, Hoover-Fong J, Hamosh A, Fallin MD, West K, Arking DE, Chakravarti A, Cutler DJ, Cutting GR.

Gastroenterology. 2006 Oct;131(4):1030-9. Epub 2006 Jul 24.

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