Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 20 of 41

1.

Proteus Syndrome.

Biesecker LG, Sapp JC.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2012 Aug 9 [updated 2019 Jan 10].

2.

Recurrent, Activating Variants in the Receptor Tyrosine Kinase DDR2 Cause Warburg-Cinotti Syndrome.

Xu L, Jensen H, Johnston JJ, Di Maria E, Kloth K, Cristea I, Sapp JC, Darling TN, Huryn LA, Tranebjærg L, Cinotti E, Kubisch C, Rødahl E, Bruland O, Biesecker LG, Houge G, Bredrup C.

Am J Hum Genet. 2018 Dec 6;103(6):976-983. doi: 10.1016/j.ajhg.2018.10.013. Epub 2018 Nov 15.

PMID:
30449416
3.

Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy.

Al-Olabi L, Polubothu S, Dowsett K, Andrews KA, Stadnik P, Joseph AP, Knox R, Pittman A, Clark G, Baird W, Bulstrode N, Glover M, Gordon K, Hargrave D, Huson SM, Jacques TS, James G, Kondolf H, Kangesu L, Keppler-Noreuil KM, Khan A, Lindhurst MJ, Lipson M, Mansour S, O'Hara J, Mahon C, Mosica A, Moss C, Murthy A, Ong J, Parker VE, Rivière JB, Sapp JC, Sebire NJ, Shah R, Sivakumar B, Thomas A, Virasami A, Waelchli R, Zeng Z, Biesecker LG, Barnacle A, Topf M, Semple RK, Patton EE, Kinsler VA.

J Clin Invest. 2018 Nov 1;128(11):5185. doi: 10.1172/JCI124649. Epub 2018 Nov 1. No abstract available.

4.

Characterization of the hepatosplenic and portal venous findings in patients with Proteus syndrome.

Takyar V, Khattar D, Ling A, Patel R, Sapp JC, Kim SA, Auh S, Biesecker LG, Keppler-Noreuil KM, Heller T.

Am J Med Genet A. 2018 Dec;176(12):2677-2684. doi: 10.1002/ajmg.a.40636. Epub 2018 Oct 22.

PMID:
30346092
5.

Safety and efficacy of low-dose sirolimus in the PIK3CA-related overgrowth spectrum.

Parker VER, Keppler-Noreuil KM, Faivre L, Luu M, Oden NL, De Silva L, Sapp JC, Andrews K, Bardou M, Chen KY, Darling TN, Gautier E, Goldspiel BR, Hadj-Rabia S, Harris J, Kounidas G, Kumar P, Lindhurst MJ, Loffroy R, Martin L, Phan A, Rother KI, Widemann BC, Wolters PL, Coubes C, Pinson L, Willems M, Vincent-Delorme C; PROMISE Working Group, Vabres P, Semple RK, Biesecker LG.

Genet Med. 2018 Oct 1. doi: 10.1038/s41436-018-0297-9. [Epub ahead of print]

PMID:
30270358
6.

Evaluation of Recipients of Positive and Negative Secondary Findings Evaluations in a Hybrid CLIA-Research Sequencing Pilot.

Sapp JC, Johnston JJ, Driscoll K, Heidlebaugh AR, Miren Sagardia A, Dogbe DN, Umstead KL, Turbitt E, Alevizos I, Baron J, Bönnemann C, Brooks B, Donkervoort S, Jee YH, Linehan WM, McMahon FJ, Moss J, Mullikin JC, Nielsen D, Pelayo E, Remaley AT, Siegel R, Su H, Zarate C; NISC Comparative Sequencing Program, Manolio TA, Biesecker BB, Biesecker LG.

Am J Hum Genet. 2018 Sep 6;103(3):358-366. doi: 10.1016/j.ajhg.2018.07.018. Epub 2018 Aug 16.

PMID:
30122538
7.

Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.

Johnston JJ, van der Smagt JJ, Rosenfeld JA, Pagnamenta AT, Alswaid A, Baker EH, Blair E, Borck G, Brinkmann J, Craigen W, Dung VC, Emrick L, Everman DB, van Gassen KL, Gulsuner S, Harr MH, Jain M, Kuechler A, Leppig KA, McDonald-McGinn DM, Can NTB, Peleg A, Roeder ER, Rogers RC, Sagi-Dain L, Sapp JC, Schäffer AA, Schanze D, Stewart H, Taylor JC, Verbeek NE, Walkiewicz MA, Zackai EH, Zweier C; Members of the Undiagnosed Diseases Network, Zenker M, Lee B, Biesecker LG.

Genet Med. 2018 Oct;20(10):1175-1185. doi: 10.1038/gim.2017.249. Epub 2018 Feb 22.

8.

Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy.

Al-Olabi L, Polubothu S, Dowsett K, Andrews KA, Stadnik P, Joseph AP, Knox R, Pittman A, Clark G, Baird W, Bulstrode N, Glover M, Gordon K, Hargrave D, Huson SM, Jacques TS, James G, Kondolf H, Kangesu L, Keppler-Noreuil KM, Khan A, Lindhurst MJ, Lipson M, Mansour S, O'Hara J, Mahon C, Mosica A, Moss C, Murthy A, Ong J, Parker VE, Rivière JB, Sapp JC, Sebire NJ, Shah R, Sivakumar B, Thomas A, Virasami A, Waelchli R, Zeng Z, Biesecker LG, Barnacle A, Topf M, Semple RK, Patton EE, Kinsler VA.

J Clin Invest. 2018 Apr 2;128(4):1496-1508. doi: 10.1172/JCI98589. Epub 2018 Mar 12.

9.

Orthopaedic Management of Leg-length Discrepancy in Proteus Syndrome: A Case Series.

Crenshaw MM, Goerlich CG, Ivey LE, Sapp JC, Keppler-Noreuil KM, Scott AC, Biesecker LG, Tosi LL.

J Pediatr Orthop. 2018 Mar;38(3):e138-e144. doi: 10.1097/BPO.0000000000001121.

PMID:
29329145
10.

Urine cell-free DNA is a biomarker for nephroblastomatosis or Wilms tumor in PIK3CA-related overgrowth spectrum (PROS).

Biderman Waberski M, Lindhurst M, Keppler-Noreuil KM, Sapp JC, Baker L, Gripp KW, Adams DM, Biesecker LG.

Genet Med. 2018 Sep;20(9):1077-1081. doi: 10.1038/gim.2017.228. Epub 2018 Jan 4.

PMID:
29300373
11.

Compound heterozygous alterations in intraflagellar transport protein CLUAP1 in a child with a novel Joubert and oral-facial-digital overlap syndrome.

Johnston JJ, Lee C, Wentzensen IM, Parisi MA, Crenshaw MM, Sapp JC, Gross JM, Wallingford JB, Biesecker LG.

Cold Spring Harb Mol Case Stud. 2017 Jul 5;3(4). pii: a001321. doi: 10.1101/mcs.a001321. Print 2017 Jul.

12.

Quantifying survival in patients with Proteus syndrome.

Sapp JC, Hu L, Zhao J, Gruber A, Schwartz B, Ferrari D, Biesecker Md LG.

Genet Med. 2017 Dec;19(12):1376-1379. doi: 10.1038/gim.2017.65. Epub 2017 Jun 29.

13.

Characterization of thrombosis in patients with Proteus syndrome.

Keppler-Noreuil KM, Lozier JN, Sapp JC, Biesecker LG.

Am J Med Genet A. 2017 Sep;173(9):2359-2365. doi: 10.1002/ajmg.a.38311. Epub 2017 Jun 19.

14.

GCM2-Activating Mutations in Familial Isolated Hyperparathyroidism.

Guan B, Welch JM, Sapp JC, Ling H, Li Y, Johnston JJ, Kebebew E, Biesecker LG, Simonds WF, Marx SJ, Agarwal SK.

Am J Hum Genet. 2016 Nov 3;99(5):1034-1044. doi: 10.1016/j.ajhg.2016.08.018. Epub 2016 Oct 13.

15.

Somatic AKT1 mutations cause meningiomas colocalizing with a characteristic pattern of cranial hyperostosis.

Keppler-Noreuil KM, Baker EH, Sapp JC, Lindhurst MJ, Biesecker LG.

Am J Med Genet A. 2016 Oct;170(10):2605-10. doi: 10.1002/ajmg.a.37737. Epub 2016 Aug 23.

16.

Exome sequencing identifies a mutation in OFD1 in a male with Joubert syndrome, orofaciodigital spectrum anomalies and complex polydactyly.

Wentzensen IM, Johnston JJ, Patton JH, Graham JM, Sapp JC, Biesecker LG.

Hum Genome Var. 2016 Feb 4;3:15069. doi: 10.1038/hgv.2015.69. eCollection 2016.

17.

Characterization of Courtesy Stigma Perceived by Parents of Overweight Children with Bardet-Biedl Syndrome.

Hamlington B, Ivey LE, Brenna E, Biesecker LG, Biesecker BB, Sapp JC.

PLoS One. 2015 Oct 16;10(10):e0140705. doi: 10.1371/journal.pone.0140705. eCollection 2015.

18.

PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation.

Keppler-Noreuil KM, Rios JJ, Parker VE, Semple RK, Lindhurst MJ, Sapp JC, Alomari A, Ezaki M, Dobyns W, Biesecker LG.

Am J Med Genet A. 2015 Feb;167A(2):287-95. doi: 10.1002/ajmg.a.36836. Epub 2014 Dec 31.

19.

Exome sequencing identifies novel mutations in C5orf42 in patients with Joubert syndrome with oral-facial-digital anomalies.

Wentzensen IM, Johnston JJ, Keppler-Noreuil K, Acrich K, David K, Johnson KD, Graham JM Jr, Sapp JC, Biesecker LG.

Hum Genome Var. 2015 Nov 19;2:15045. doi: 10.1038/hgv.2015.45. eCollection 2015.

20.

Dubowitz syndrome is a complex comprised of multiple, genetically distinct and phenotypically overlapping disorders.

Stewart DR, Pemov A, Johnston JJ, Sapp JC, Yeager M, He J, Boland JF, Burdett L, Brown C, Gatti RA, Alter BP, Biesecker LG, Savage SA.

PLoS One. 2014 Jun 3;9(6):e98686. doi: 10.1371/journal.pone.0098686. eCollection 2014.

Supplemental Content

Loading ...
Support Center