Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 25

1.

IRF2BPL Is Associated with Neurological Phenotypes.

Marcogliese PC, Shashi V, Spillmann RC, Stong N, Rosenfeld JA, Koenig MK, Martínez-Agosto JA, Herzog M, Chen AH, Dickson PI, Lin HJ, Vera MU, Salamon N, Graham JM Jr, Ortiz D, Infante E, Steyaert W, Dermaut B, Poppe B, Chung HL, Zuo Z, Lee PT, Kanca O, Xia F, Yang Y, Smith EC, Jasien J, Kansagra S, Spiridigliozzi G, El-Dairi M, Lark R, Riley K, Koeberl DD, Golden-Grant K; Program for Undiagnosed Diseases (UD-PrOZA); Undiagnosed Diseases Network, Yamamoto S, Wangler MF, Mirzaa G, Hemelsoet D, Lee B, Nelson SF, Goldstein DB, Bellen HJ, Pena LDM.

Am J Hum Genet. 2018 Sep 6;103(3):456. doi: 10.1016/j.ajhg.2018.08.010. No abstract available.

2.

Characteristics of undiagnosed diseases network applicants: implications for referring providers.

Walley NM, Pena LDM, Hooper SR, Cope H, Jiang YH, McConkie-Rosell A, Sanders C, Schoch K, Spillmann RC, Strong K, McCray AT, Mazur P, Esteves C, LeBlanc K; Undiagnosed Diseases Network, Wise AL, Shashi V.

BMC Health Serv Res. 2018 Aug 22;18(1):652. doi: 10.1186/s12913-018-3458-2.

3.

IRF2BPL Is Associated with Neurological Phenotypes.

Marcogliese PC, Shashi V, Spillmann RC, Stong N, Rosenfeld JA, Koenig MK, Martínez-Agosto JA, Herzog M, Chen AH, Dickson PI, Lin HJ, Vera MU, Salamon N, Graham JM Jr, Ortiz D, Infante E, Steyaert W, Dermaut B, Poppe B, Chung HL, Zuo Z, Lee PT, Kanca O, Xia F, Yang Y, Smith EC, Jasien J, Kansagra S, Spiridigliozzi G, El-Dairi M, Lark R, Riley K, Koeberl DD, Golden-Grant K; Program for Undiagnosed Diseases (UD-PrOZA); Undiagnosed Diseases Network, Yamamoto S, Wangler MF, Mirzaa G, Hemelsoet D, Lee B, Nelson SF, Goldstein DB, Bellen HJ, Pena LDM.

Am J Hum Genet. 2018 Aug 2;103(2):245-260. doi: 10.1016/j.ajhg.2018.07.006. Epub 2018 Jul 26. Erratum in: Am J Hum Genet. 2018 Sep 6;103(3):456.

PMID:
30057031
4.

Further Evidence for the Involvement of EFL1 in a Shwachman--Diamond-like Syndrome and Expansion of the Phenotypic Features.

Tan QK, Cope H, Spillmann RC, Stong N, Jiang YH, McDonald MT, Rothman JA, Butler MW, Frush DP, Lachman RS, Lee B, Bacino CA, Bonner MJ, McCall CM, Pendse AA, Walley N, Members U, Shashi V, Pena LDM.

Cold Spring Harb Mol Case Stud. 2018 Jul 3. pii: mcs.a003046. doi: 10.1101/mcs.a003046. [Epub ahead of print]

5.

Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder.

Liu N, Schoch K, Luo X, Pena LDM, Bhavana VH, Kukolich MK, Stringer S, Powis Z, Radtke K, Mroske C, Deak KL, McDonald MT, McConkie-Rosell A, Markert ML, Kranz PG, Stong N, Need AC, Bick D, Amaral MD, Worthey EA, Levy S; Undiagnosed Diseases Network (UDN), Wangler MF, Bellen HJ, Shashi V, Yamamoto S.

Hum Mol Genet. 2018 Jul 15;27(14):2454-2465. doi: 10.1093/hmg/ddy146.

PMID:
29726930
6.

Efficacy, safety profile, and immunogenicity of alglucosidase alfa produced at the 4,000-liter scale in US children and adolescents with Pompe disease: ADVANCE, a phase IV, open-label, prospective study.

Hahn SH, Kronn D, Leslie ND, Pena LDM, Tanpaiboon P, Gambello MJ, Gibson JB, Hillman R, Stockton DW, Day JW, Wang RY, An Haack K, Shafi R, Sparks S, Zhao Y, Wilson C, Kishnani PS.

Genet Med. 2018 Mar 22. doi: 10.1038/gim.2018.2. [Epub ahead of print]

PMID:
29565424
7.

Psychosocial Profiles of Parents of Children with Undiagnosed Diseases: Managing Well or Just Managing?

McConkie-Rosell A, Hooper SR, Pena LDM, Schoch K, Spillmann RC, Jiang YH, Cope H; Undiagnosed Diseases Network, Palmer C, Shashi V.

J Genet Couns. 2018 Aug;27(4):935-946. doi: 10.1007/s10897-017-0193-5. Epub 2018 Jan 2.

PMID:
29297108
8.

Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases.

Pena LDM, Jiang YH, Schoch K, Spillmann RC, Walley N, Stong N, Rapisardo Horn S, Sullivan JA, McConkie-Rosell A, Kansagra S, Smith EC, El-Dairi M, Bellet J, Keels MA, Jasien J, Kranz PG, Noel R, Nagaraj SK, Lark RK, Wechsler DSG, Del Gaudio D, Leung ML, Hendon LG, Parker CC, Jones KL; Undiagnosed Diseases Network Members, Goldstein DB, Shashi V.

Genet Med. 2018 Apr;20(4):464-469. doi: 10.1038/gim.2017.128. Epub 2017 Sep 14.

9.

De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.

Shashi V, Pena LDM, Kim K, Burton B, Hempel M, Schoch K, Walkiewicz M, McLaughlin HM, Cho M, Stong N, Hickey SE, Shuss CM; Undiagnosed Diseases Network, Freemark MS, Bellet JS, Keels MA, Bonner MJ, El-Dairi M, Butler M, Kranz PG, Stumpel CTRM, Klinkenberg S, Oberndorff K, Alawi M, Santer R, Petrovski S, Kuismin O, Korpi-Heikkilä S, Pietilainen O, Aarno P, Kurki MI, Hoischen A, Need AC, Goldstein DB, Kortüm F.

Am J Hum Genet. 2017 Jan 5;100(1):179. doi: 10.1016/j.ajhg.2016.12.004. No abstract available.

10.

Comparison of Methods of Initial Ascertainment in 58 Cases of Propionic Acidemia Enrolled in the Inborn Errors of Metabolism Information System Reveals Significant Differences in Time to Evaluation and Symptoms at Presentation.

McCrory NM, Edick MJ, Ahmad A, Lipinski S, Scott Schwoerer JA, Zhai S, Justice K, Cameron CA, Berry SA, Pena LD; Inborn Errors of Metabolism Collaborative.

J Pediatr. 2017 Jan;180:200-205.e8. doi: 10.1016/j.jpeds.2016.09.050. Epub 2016 Oct 21.

11.

De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.

Shashi V, Pena LD, Kim K, Burton B, Hempel M, Schoch K, Walkiewicz M, McLaughlin HM, Cho M, Stong N, Hickey SE, Shuss CM; Undiagnosed Diseases Network, Freemark MS, Bellet JS, Keels MA, Bonner MJ, El-Dairi M, Butler M, Kranz PG, Stumpel CT, Klinkenberg S, Oberndorff K, Alawi M, Santer R, Petrovski S, Kuismin O, Korpi-Heikkilä S, Pietilainen O, Aarno P, Kurki MI, Hoischen A, Need AC, Goldstein DB, Kortüm F.

Am J Hum Genet. 2016 Oct 6;99(4):991-999. doi: 10.1016/j.ajhg.2016.08.017. Epub 2016 Sep 29. Erratum in: Am J Hum Genet. 2017 Jan 5;100(1):179.

12.

Prospective exploratory muscle biopsy, imaging, and functional assessment in patients with late-onset Pompe disease treated with alglucosidase alfa: The EMBASSY Study.

van der Ploeg A, Carlier PG, Carlier RY, Kissel JT, Schoser B, Wenninger S, Pestronk A, Barohn RJ, Dimachkie MM, Goker-Alpan O, Mozaffar T, Pena LD, Simmons Z, Straub V, Guglieri M, Young P, Boentert M, Baudin PY, Wens S, Shafi R, Bjartmar C, Thurberg BL.

Mol Genet Metab. 2016 Sep;119(1-2):115-23. doi: 10.1016/j.ymgme.2016.05.013. Epub 2016 May 19.

13.

Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database.

Pena LD, van Calcar SC, Hansen J, Edick MJ, Walsh Vockley C, Leslie N, Cameron C, Mohsen AW, Berry SA, Arnold GL, Vockley J; IBEMC.

Mol Genet Metab. 2016 Aug;118(4):272-81. doi: 10.1016/j.ymgme.2016.05.007. Epub 2016 May 13.

14.

Not the End of the Odyssey: Parental Perceptions of Whole Exome Sequencing (WES) in Pediatric Undiagnosed Disorders.

Rosell AM, Pena LD, Schoch K, Spillmann R, Sullivan J, Hooper SR, Jiang YH, Mathey-Andrews N, Goldstein DB, Shashi V.

J Genet Couns. 2016 Oct;25(5):1019-31. doi: 10.1007/s10897-016-9933-1. Epub 2016 Feb 12.

PMID:
26868367
15.

Acute hepatopancreatic necrosis disease (AHPND) outbreaks in Penaeus vannamei and P. monodon cultured in the Philippines.

de la Peña LD, Cabillon NA, Catedral DD, Amar EC, Usero RC, Monotilla WD, Calpe AT, Fernandez DD, Saloma CP.

Dis Aquat Organ. 2015 Oct 27;116(3):251-4. doi: 10.3354/dao02919.

PMID:
26503780
16.

Postmortem Findings and Clinical Correlates in Individuals with Infantile-Onset Pompe Disease.

Pena LD, Proia AD, Kishnani PS.

JIMD Rep. 2015;23:45-54. doi: 10.1007/8904_2015_426. Epub 2015 Mar 13.

17.

Premature pubarche in children with Pompe disease.

Tan QK, Stockton DW, Pivnick E, Choudhri AF, Hines-Dowell S, Pena LD, Deimling MA, Freemark MS, Kishnani PS.

J Pediatr. 2015 Apr;166(4):1075-8.e1. doi: 10.1016/j.jpeds.2014.12.074. Epub 2015 Feb 14.

PMID:
25687635
18.

A Phase 4 Prospective Study in Patients with Adult Pompe Disease Treated with Alglucosidase Alfa.

Thurberg BL, Carlier P, Kissel JT, Schoser B, Pestronk A, Barohn RJ, Goker-Alpan O, Mozaffar T, Pena LD, Simmons Z, Straub V, Young P, Shafi R, Bjartmar C, van der Ploeg A.

J Neuromuscul Dis. 2015;2(s1):S72-S73. No abstract available.

PMID:
27858658
19.

Thermohaline circulation crisis and impacts during the mid-Pleistocene transition.

Pena LD, Goldstein SL.

Science. 2014 Jul 18;345(6194):318-22. doi: 10.1126/science.1249770. Epub 2014 Jun 26.

20.

Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum.

Keppler-Noreuil KM, Sapp JC, Lindhurst MJ, Parker VE, Blumhorst C, Darling T, Tosi LL, Huson SM, Whitehouse RW, Jakkula E, Grant I, Balasubramanian M, Chandler KE, Fraser JL, Gucev Z, Crow YJ, Brennan LM, Clark R, Sellars EA, Pena LD, Krishnamurty V, Shuen A, Braverman N, Cunningham ML, Sutton VR, Tasic V, Graham JM Jr, Geer J Jr, Henderson A, Semple RK, Biesecker LG.

Am J Med Genet A. 2014 Jul;164A(7):1713-33. doi: 10.1002/ajmg.a.36552. Epub 2014 Apr 29.

21.

Eastern equatorial pacific productivity and related-CO2 changes since the last glacial period.

Calvo E, Pelejero C, Pena LD, Cacho I, Logan GA.

Proc Natl Acad Sci U S A. 2011 Apr 5;108(14):5537-41. doi: 10.1073/pnas.1009761108. Epub 2011 Mar 21.

22.

Microsatellite and mitochondrial haplotype diversity reveals population differentiation in the tiger shrimp (Penaeus monodon) in the Indo-Pacific region.

You EM, Chiu TS, Liu KF, Tassanakajon A, Klinbunga S, Triwitayakorn K, de la Peña LD, Li Y, Yu HT.

Anim Genet. 2008 Jun;39(3):267-77. doi: 10.1111/j.1365-2052.2008.01724.x.

PMID:
18454804
23.

Prevalence of white spot syndrome virus (WSSV) in wild shrimp Penaeus monodon in the Philippines.

de la Peña LD, Lavilla-Pitogo CR, Villar CB, Paner MG, Sombito CD, Capulos GC.

Dis Aquat Organ. 2007 Oct 15;77(3):175-9.

24.

The human PCPH proto-oncogene: cDNA identification, primary structure, chromosomal mapping, and expression in normal and tumor cells.

Recio JA, Zambrano N, Peña Ld, Reig JA, Rhoads A, Rouzaut A, Notario V V.

Mol Carcinog. 2000 May;28(1):62. No abstract available.

PMID:
10820489
25.

The human PCPH proto-oncogene: cDNA identification, primary structure, chromosomal mapping, and expression in normal and tumor cells.

Recio JA, Zambrano N, Peña Ld, Reig JA, Rhoads A, Rouzaut A, Notario V.

Mol Carcinog. 2000 Mar;27(3):229-36. Erratum in: Mol Carcinog 2000 May;28(1):62.

PMID:
10708485

Supplemental Content

Support Center