Format
Items per page
Sort by

Send to:

Choose Destination

Search results

Items: 1 to 20 of 23

1.

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.

PMID:
26889673
2.

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.

PMID:
26792268
3.

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.

4.

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.

PMID:
26333794
5.

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
6.

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.

7.

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
8.

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.

9.

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.

10.

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.

11.

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.

12.

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
13.

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.

14.

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
15.

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.

16.

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
17.

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
18.

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.

19.

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
20.

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
Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk