Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 37

1.

Implementation of a Systematic Tumor Screening Program for Lynch Syndrome in an Integrated Health Care Setting.

Clarke EV, Muessig KR, Zepp J, Hunter JE, Syngal S, Acheson LS, Wiesner GL, Peterson SK, Bergen KM, Shuster E, Davis JV, Schneider JL, Kauffman TL, Gilmore MJ, Reiss JA, Rope AF, Cook JE, Goddard KAB.

Fam Cancer. 2019 Feb 7. doi: 10.1007/s10689-019-00123-x. [Epub ahead of print]

PMID:
30729418
2.

A case for expanding carrier testing to include actionable X-linked disorders.

Rope AF, Kauffman TL, Himes P, Amendola LM, Punj S, Akkari Y, Potter A, Davis JV, Schneider JL, Reiss JA, Gilmore MJ, McMullen CK, Nickerson DA, Richards CS, Jarvik GP, Wilfond BS, Goddard KAB.

Clin Case Rep. 2018 Sep 19;6(11):2092-2095. doi: 10.1002/ccr3.1806. eCollection 2018 Nov.

3.

Patient and provider perspectives on adherence to and care coordination of lynch syndrome surveillance recommendations: findings from qualitative interviews.

Schneider JL, Goddard KAB, Muessig KR, Davis JV, Rope AF, Hunter JE, Peterson SK, Acheson LS, Syngal S, Wiesner GL, Reiss JA.

Hered Cancer Clin Pract. 2018 May 10;16:11. doi: 10.1186/s13053-018-0090-4. eCollection 2018.

4.

Preconception Carrier Screening by Genome Sequencing: Results from the Clinical Laboratory.

Punj S, Akkari Y, Huang J, Yang F, Creason A, Pak C, Potter A, Dorschner MO, Nickerson DA, Robertson PD, Jarvik GP, Amendola LM, Schleit J, Simpson DK, Rope AF, Reiss J, Kauffman T, Gilmore MJ, Himes P, Wilfond B, Goddard KAB, Richards CS.

Am J Hum Genet. 2018 Jun 7;102(6):1078-1089. doi: 10.1016/j.ajhg.2018.04.004. Epub 2018 May 10.

5.

Lessons Learned From A Study Of Genomics-Based Carrier Screening For Reproductive Decision Making.

Wilfond BS, Kauffman TL, Jarvik GP, Reiss JA, Richards CS, McMullen C, Gilmore M, Himes P, Kraft SA, Porter KM, Schneider JL, Punj S, Leo MC, Dickerson JF, Lynch FL, Clarke E, Rope AF, Lutz K, Goddard KAB.

Health Aff (Millwood). 2018 May;37(5):809-816. doi: 10.1377/hlthaff.2017.1578.

PMID:
29733724
6.

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.

Cheng H, Dharmadhikari AV, Varland S, Ma N, Domingo D, Kleyner R, Rope AF, Yoon M, Stray-Pedersen A, Posey JE, Crews SR, Eldomery MK, Akdemir ZC, Lewis AM, Sutton VR, Rosenfeld JA, Conboy E, Agre K, Xia F, Walkiewicz M, Longoni M, High FA, van Slegtenhorst MA, Mancini GMS, Finnila CR, van Haeringen A, den Hollander N, Ruivenkamp C, Naidu S, Mahida S, Palmer EE, Murray L, Lim D, Jayakar P, Parker MJ, Giusto S, Stracuzzi E, Romano C, Beighley JS, Bernier RA, Küry S, Nizon M, Corbett MA, Shaw M, Gardner A, Barnett C, Armstrong R, Kassahn KS, Van Dijck A, Vandeweyer G, Kleefstra T, Schieving J, Jongmans MJ, de Vries BBA, Pfundt R, Kerr B, Rojas SK, Boycott KM, Person R, Willaert R, Eichler EE, Kooy RF, Yang Y, Wu JC, Lupski JR, Arnesen T, Cooper GM, Chung WK, Gecz J, Stessman HAF, Meng L, Lyon GJ.

Am J Hum Genet. 2018 May 3;102(5):985-994. doi: 10.1016/j.ajhg.2018.03.004. Epub 2018 Apr 12.

7.

Universal screening for Lynch syndrome among patients with colorectal cancer: patient perspectives on screening and sharing results with at-risk relatives.

Hunter JE, Arnold KA, Cook JE, Zepp J, Gilmore MJ, Rope AF, Davis JV, Bergen KM, Esterberg E, Muessig KR, Peterson SK, Syngal S, Acheson L, Wiesner G, Reiss J, Goddard KAB.

Fam Cancer. 2017 Jul;16(3):377-387. doi: 10.1007/s10689-017-9972-2.

8.

Genome sequencing and carrier testing: decisions on categorization and whether to disclose results of carrier testing.

Himes P, Kauffman TL, Muessig KR, Amendola LM, Berg JS, Dorschner MO, Gilmore M, Nickerson DA, Reiss JA, Richards CS, Rope AF, Simpson DK, Wilfond BS, Jarvik GP, Goddard KAB.

Genet Med. 2017 Jul;19(7):803-808. doi: 10.1038/gim.2016.198. Epub 2017 Jan 12.

9.

Generating a taxonomy for genetic conditions relevant to reproductive planning.

Korngiebel DM, McMullen CK, Amendola LM, Berg JS, Davis JV, Gilmore MJ, Harding CO, Himes P, Jarvik GP, Kauffman TL, Kennedy KA, Simpson DK, Leo MC, Lynch FL, Quigley DI, Reiss JA, Richards CS, Rope AF, Schneider JL, Goddard KA, Wilfond BS.

Am J Med Genet A. 2016 Mar;170(3):565-73. doi: 10.1002/ajmg.a.37513.

10.

Patients' ratings of genetic conditions validate a taxonomy to simplify decisions about preconception carrier screening via genome sequencing.

Leo MC, McMullen C, Wilfond BS, Lynch FL, Reiss JA, Gilmore MJ, Himes P, Kauffman TL, Davis JV, Jarvik GP, Berg JS, Harding C, Kennedy KA, Simpson DK, Quigley DI, Richards CS, Rope AF, Goddard KA.

Am J Med Genet A. 2016 Mar;170(3):574-82. doi: 10.1002/ajmg.a.37477. Epub 2016 Jan 21.

11.

TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations.

O'Rawe JA, Wu Y, Dörfel MJ, Rope AF, Au PY, Parboosingh JS, Moon S, Kousi M, Kosma K, Smith CS, Tzetis M, Schuette JL, Hufnagel RB, Prada CE, Martinez F, Orellana C, Crain J, Caro-Llopis A, Oltra S, Monfort S, Jiménez-Barrón LT, Swensen J, Ellingwood S, Smith R, Fang H, Ospina S, Stegmann S, Den Hollander N, Mittelman D, Highnam G, Robison R, Yang E, Faivre L, Roubertie A, Rivière JB, Monaghan KG, Wang K, Davis EE, Katsanis N, Kalscheuer VM, Wang EH, Metcalfe K, Kleefstra T, Innes AM, Kitsiou-Tzeli S, Rosello M, Keegan CE, Lyon GJ.

Am J Hum Genet. 2015 Dec 3;97(6):922-32. doi: 10.1016/j.ajhg.2015.11.005.

12.

7q11.23 Duplication syndrome: Physical characteristics and natural history.

Morris CA, Mervis CB, Paciorkowski AP, Abdul-Rahman O, Dugan SL, Rope AF, Bader P, Hendon LG, Velleman SL, Klein-Tasman BP, Osborne LR.

Am J Med Genet A. 2015 Dec;167A(12):2916-35. doi: 10.1002/ajmg.a.37340. Epub 2015 Sep 3.

13.

Clinical utility of a next generation sequencing panel assay for Marfan and Marfan-like syndromes featuring aortopathy.

Wooderchak-Donahue W, VanSant-Webb C, Tvrdik T, Plant P, Lewis T, Stocks J, Raney JA, Meyers L, Berg A, Rope AF, Yetman AT, Bleyl SB, Mesley R, Bull DA, Collins RT, Ojeda MM, Roberts A, Lacro R, Woerner A, Stoler J, Bayrak-Toydemir P.

Am J Med Genet A. 2015 Aug;167A(8):1747-57. doi: 10.1002/ajmg.a.37085. Epub 2015 May 5.

PMID:
25944730
14.

Neural tube defects and atypical deletion on 22q11.2.

Leoni C, Stevenson DA, Geiersbach KB, Paxton CN, Krock BL, Mao R, Rope AF.

Am J Med Genet A. 2014 Nov;164A(11):2701-6. doi: 10.1002/ajmg.a.36701. Epub 2014 Aug 13.

15.

Clinical utility of chromosomal microarray analysis of DNA from buccal cells: detection of mosaicism in three patients.

Sdano MR, Vanzo RJ, Martin MM, Baldwin EE, South ST, Rope AF, Allen WP, Kearney H.

J Genet Couns. 2014 Dec;23(6):922-7. doi: 10.1007/s10897-014-9751-2. Epub 2014 Aug 15.

PMID:
25120037
16.

Increased hot flash severity and related interference in perimenopausal human immunodeficiency virus-infected women.

Looby SE, Shifren J, Corless I, Rope A, Pedersen MC, Joffe H, Grinspoon S.

Menopause. 2014 Apr;21(4):403-9. doi: 10.1097/GME.0b013e31829d4c4c.

17.

Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networks.

Longoni M, Lage K, Russell MK, Loscertales M, Abdul-Rahman OA, Baynam G, Bleyl SB, Brady PD, Breckpot J, Chen CP, Devriendt K, Gillessen-Kaesbach G, Grix AW, Rope AF, Shimokawa O, Strauss B, Wieczorek D, Zackai EH, Coletti CM, Maalouf FI, Noonan KM, Park JH, Tracy AA, Lee C, Donahoe PK, Pober BR.

Am J Med Genet A. 2012 Dec;158A(12):3148-58. doi: 10.1002/ajmg.a.35665. Epub 2012 Nov 19.

18.

A direct comparison of next generation sequencing enrichment methods using an aortopathy gene panel- clinical diagnostics perspective.

Wooderchak-Donahue WL, O'Fallon B, Furtado LV, Durtschi JD, Plant P, Ridge PG, Rope AF, Yetman AT, Bayrak-Toydemir P.

BMC Med Genomics. 2012 Nov 14;5:50. doi: 10.1186/1755-8794-5-50.

19.

Metabolic effects of a growth hormone-releasing factor in obese subjects with reduced growth hormone secretion: a randomized controlled trial.

Makimura H, Feldpausch MN, Rope AM, Hemphill LC, Torriani M, Lee H, Grinspoon SK.

J Clin Endocrinol Metab. 2012 Dec;97(12):4769-79. doi: 10.1210/jc.2012-2794. Epub 2012 Sep 26.

20.

Effects of aging and smoking on carotid intima-media thickness in HIV-infection.

Fitch KV, Looby SE, Rope A, Eneh P, Hemphill L, Lee H, Grinspoon SK.

AIDS. 2013 Jan 2;27(1):49-57. doi: 10.1097/QAD.0b013e328358b29c.

21.

Characterization of large genomic deletions in the FBN1 gene using multiplex ligation-dependent probe amplification.

Furtado LV, Wooderchak-Donahue W, Rope AF, Yetman AT, Lewis T, Plant P, Bayrak-Toydemir P.

BMC Med Genet. 2011 Sep 21;12:119. doi: 10.1186/1471-2350-12-119.

22.

Somatic mosaicism contributes to phenotypic variation in Timothy syndrome.

Etheridge SP, Bowles NE, Arrington CB, Pilcher T, Rope A, Wilde AA, Alders M, Saarel EV, Tavernier R, Timothy KW, Tristani-Firouzi M.

Am J Med Genet A. 2011 Oct;155A(10):2578-83. doi: 10.1002/ajmg.a.34223. Epub 2011 Sep 9.

PMID:
21910241
23.

Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency.

Rope AF, Wang K, Evjenth R, Xing J, Johnston JJ, Swensen JJ, Johnson WE, Moore B, Huff CD, Bird LM, Carey JC, Opitz JM, Stevens CA, Jiang T, Schank C, Fain HD, Robison R, Dalley B, Chin S, South ST, Pysher TJ, Jorde LB, Hakonarson H, Lillehaug JR, Biesecker LG, Yandell M, Arnesen T, Lyon GJ.

Am J Hum Genet. 2011 Jul 15;89(1):28-43. doi: 10.1016/j.ajhg.2011.05.017. Epub 2011 Jun 23. Erratum in: Am J Hum Genet. 2011 Aug 12;89(2):345.

24.

Relationship between neck circumference and cardiometabolic parameters in HIV-infected and non-HIV-infected adults.

Fitch KV, Stanley TL, Looby SE, Rope AM, Grinspoon SK.

Diabetes Care. 2011 Apr;34(4):1026-31. doi: 10.2337/dc10-1983. Epub 2011 Mar 4.

25.

A novel X-linked multiple congenital anomaly syndrome associated with an EBP mutation.

Furtado LV, Bayrak-Toydemir P, Hulinsky B, Damjanovich K, Carey JC, Rope AF.

Am J Med Genet A. 2010 Nov;152A(11):2838-44. doi: 10.1002/ajmg.a.33674.

PMID:
20949533
26.

Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.

Johnston JJ, Sapp JC, Turner JT, Amor D, Aftimos S, Aleck KA, Bocian M, Bodurtha JN, Cox GF, Curry CJ, Day R, Donnai D, Field M, Fujiwara I, Gabbett M, Gal M, Graham JM, Hedera P, Hennekam RC, Hersh JH, Hopkin RJ, Kayserili H, Kidd AM, Kimonis V, Lin AE, Lynch SA, Maisenbacher M, Mansour S, McGaughran J, Mehta L, Murphy H, Raygada M, Robin NH, Rope AF, Rosenbaum KN, Schaefer GB, Shealy A, Smith W, Soller M, Sommer A, Stalker HJ, Steiner B, Stephan MJ, Tilstra D, Tomkins S, Trapane P, Tsai AC, Van Allen MI, Vasudevan PC, Zabel B, Zunich J, Black GC, Biesecker LG.

Hum Mutat. 2010 Oct;31(10):1142-54. doi: 10.1002/humu.21328.

27.

DiGeorge anomaly in the absence of chromosome 22q11.2 deletion.

Rope AF, Cragun DL, Saal HM, Hopkin RJ.

J Pediatr. 2009 Oct;155(4):560-5. doi: 10.1016/j.jpeds.2009.04.010.

PMID:
19595366
28.

Adults with genetic syndromes and cardiovascular abnormalities: clinical history and management.

Lin AE, Basson CT, Goldmuntz E, Magoulas PL, McDermott DA, McDonald-McGinn DM, McPherson E, Morris CA, Noonan J, Nowak C, Pierpont ME, Pyeritz RE, Rope AF, Zackai E, Pober BR.

Genet Med. 2008 Jul;10(7):469-94. doi: 10.1097GIM.0b013e3181772111. Review.

29.

Expansion in size of a terminal deletion: a paradigm shift for parental follow-up studies.

South ST, Rope AF, Lamb AN, Aston E, Glaus N, Whitby H, Maxwell T, Zhu XL, Brothman AR.

J Med Genet. 2008 Jun;45(6):391-5. doi: 10.1136/jmg.2008.057315. Epub 2008 Apr 15.

PMID:
18413369
30.

Brachymesomelic dysplasia with Peters anomaly of the eye results from disruptions of the X chromosome near the SHOX and SOX3 genes.

Bleyl SB, Byrne JL, South ST, Dries DC, Stevenson DA, Rope AF, Vianna-Morgante AM, Schoenwolf GC, Kivlin JD, Brothman A, Carey JC.

Am J Med Genet A. 2007 Dec 1;143A(23):2785-95.

PMID:
17994562
31.

A new genomic mechanism leading to cri-du-chat syndrome.

South ST, Swensen JJ, Maxwell T, Rope A, Brothman AR, Chen Z.

Am J Med Genet A. 2006 Dec 15;140(24):2714-20.

PMID:
17103439
32.

Clinical and molecular aspects of an informative family with neurofibromatosis type 1 and Noonan phenotype.

Stevenson DA, Viskochil DH, Rope AF, Carey JC.

Clin Genet. 2006 Mar;69(3):246-53.

33.

Genetic analyses in two extended families with deletion 22q11 syndrome: importance of extracardiac manifestations.

Shooner KA, Rope AF, Hopkin RJ, Andelfinger GU, Benson DW.

J Pediatr. 2005 Mar;146(3):382-7.

PMID:
15756225
34.

Dilated ascending aorta in a child with ring chromosome 21 syndrome.

Rope AF, Hinton RB, Spicer RL, Blough-Pfau R, Saal HM.

Am J Med Genet A. 2004 Oct 1;130A(2):191-5.

PMID:
15372526
35.

Association of anterior glottic webs with velocardiofacial syndrome (chromosome 22q11.2 deletion).

Miyamoto RC, Cotton RT, Rope AF, Hopkin RJ, Cohen AP, Shott SR, Rutter MJ.

Otolaryngol Head Neck Surg. 2004 Apr;130(4):415-7.

PMID:
15100636
36.

Upper airway malformation associated with partial trisomy 11q.

Zhao HQ, Rope AF, Saal HM, Blough-Pfau RI, Hopkin RJ.

Am J Med Genet A. 2003 Jul 30;120A(3):331-7.

PMID:
12838551
37.

Application of DNA amplification fingerprinting (DAF) to mixed culture bioreactors.

Breen A, Rope AF, Taylor D, Loper JC, Sferra PR.

J Ind Microbiol. 1995 Jan;14(1):10-6.

PMID:
7766062

Supplemental Content

Support Center