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Items: 1 to 20 of 110

1.

Detection of phosphoglucomutase-3 deficiency by lectin-based flow cytometry.

Carlson RJ, Bond MR, Hutchins S, Brown Y, Wolfe LA, Lam C, Nelson C, DiMaggio T, Jones N, Rosenzweig SD, Stone KD, Freeman AF, Holland SM, Hanover JA, Milner JD, Lyons JJ.

J Allergy Clin Immunol. 2017 Jan 4. pii: S0091-6749(16)32491-5. doi: 10.1016/j.jaci.2016.12.951. [Epub ahead of print] No abstract available.

PMID:
28063873
2.

Nutritional interventions in primary mitochondrial disorders: Developing an evidence base.

Camp KM, Krotoski D, Parisi MA, Gwinn KA, Cohen BH, Cox CS, Enns GM, Falk MJ, Goldstein AC, Gopal-Srivastava R, Gorman GS, Hersh SP, Hirano M, Hoffman FA, Karaa A, MacLeod EL, McFarland R, Mohan C, Mulberg AE, Odenkirchen JC, Parikh S, Rutherford PJ, Suggs-Anderson SK, Tang WH, Vockley J, Wolfe LA, Yannicelli S, Yeske PE, Coates PM.

Mol Genet Metab. 2016 Nov;119(3):187-206. doi: 10.1016/j.ymgme.2016.09.002. Epub 2016 Sep 20. Review.

PMID:
27665271
3.

Infantile Cirrhosis, Growth Impairment, and Neurodevelopmental Anomalies Associated with Deficiency of PPP1R15B.

Mohammad S, Wolfe LA, Stöbe P, Biskup S, Wainwright MS, Melin-Aldana H, Malladi P, Muenke M, Gahl WA, Whitington PF.

J Pediatr. 2016 Dec;179:144-149.e2. doi: 10.1016/j.jpeds.2016.08.043. Epub 2016 Sep 15.

PMID:
27640355
4.

De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia.

Berko ER, Cho MT, Eng C, Shao Y, Sweetser DA, Waxler J, Robin NH, Brewer F, Donkervoort S, Mohassel P, Bönnemann CG, Bialer M, Moore C, Wolfe LA, Tifft CJ, Shen Y, Retterer K, Millan F, Chung WK.

J Med Genet. 2017 Feb;54(2):84-86. doi: 10.1136/jmedgenet-2016-103943. Epub 2016 Jul 7.

5.

Aberrant splicing induced by the most common EPG5 mutation in an individual with Vici syndrome.

Kane MS, Vilboux T, Wolfe LA, Lee PR, Wang Y, Huddleston KC, Vockley JG, Niederhuber JE, Solomon BD.

Brain. 2016 Sep;139(Pt 9):e52. doi: 10.1093/brain/aww135. Epub 2016 Jun 24. No abstract available.

PMID:
27343256
6.

ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.

Ng BG, Shiryaev SA, Rymen D, Eklund EA, Raymond K, Kircher M, Abdenur JE, Alehan F, Midro AT, Bamshad MJ, Barone R, Berry GT, Brumbaugh JE, Buckingham KJ, Clarkson K, Cole FS, O'Connor S, Cooper GM, Van Coster R, Demmer LA, Diogo L, Fay AJ, Ficicioglu C, Fiumara A, Gahl WA, Ganetzky R, Goel H, Harshman LA, He M, Jaeken J, James PM, Katz D, Keldermans L, Kibaek M, Kornberg AJ, Lachlan K, Lam C, Yaplito-Lee J, Nickerson DA, Peters HL, Race V, Régal L, Rush JS, Rutledge SL, Shendure J, Souche E, Sparks SE, Trapane P, Sanchez-Valle A, Vilain E, Vøllo A, Waechter CJ, Wang RY, Wolfe LA, Wong DA, Wood T, Yang AC; University of Washington Center for Mendelian Genomics., Matthijs G, Freeze HH.

Hum Mutat. 2016 Jul;37(7):653-60. doi: 10.1002/humu.22983. Epub 2016 Mar 21.

7.

Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation.

Kane MS, Davids M, Adams C, Wolfe LA, Cheung HW, Gropman A, Huang Y; NISC Comparative Sequencing Program., Ng BG, Freeze HH, Adams DR, Gahl WA, Boerkoel CF.

Am J Hum Genet. 2016 Feb 4;98(2):339-46. doi: 10.1016/j.ajhg.2015.12.007. Epub 2016 Jan 21.

8.

Disruption of Golgi morphology and altered protein glycosylation in PLA2G6-associated neurodegeneration.

Davids M, Kane MS, He M, Wolfe LA, Li X, Raihan MA, Chao KR, Bone WP, Boerkoel CF, Gahl WA, Toro C.

J Med Genet. 2016 Mar;53(3):180-9. doi: 10.1136/jmedgenet-2015-103338. Epub 2015 Dec 14.

PMID:
26668131
9.

Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency.

Bone WP, Washington NL, Buske OJ, Adams DR, Davis J, Draper D, Flynn ED, Girdea M, Godfrey R, Golas G, Groden C, Jacobsen J, Köhler S, Lee EM, Links AE, Markello TC, Mungall CJ, Nehrebecky M, Robinson PN, Sincan M, Soldatos AG, Tifft CJ, Toro C, Trang H, Valkanas E, Vasilevsky N, Wahl C, Wolfe LA, Boerkoel CF, Brudno M, Haendel MA, Gahl WA, Smedley D.

Genet Med. 2016 Jun;18(6):608-17. doi: 10.1038/gim.2015.137. Epub 2015 Nov 12.

10.

Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes.

Marchegiani S, Davis T, Tessadori F, van Haaften G, Brancati F, Hoischen A, Huang H, Valkanas E, Pusey B, Schanze D, Venselaar H, Vulto-van Silfhout AT, Wolfe LA, Tifft CJ, Zerfas PM, Zambruno G, Kariminejad A, Sabbagh-Kermani F, Lee J, Tsokos MG, Lee CC, Ferraz V, da Silva EM, Stevens CA, Roche N, Bartsch O, Farndon P, Bermejo-Sanchez E, Brooks BP, Maduro V, Dallapiccola B, Ramos FJ, Chung HY, Le Caignec C, Martins F, Jacyk WK, Mazzanti L, Brunner HG, Bakkers J, Lin S, Malicdan MC, Boerkoel CF, Gahl WA, de Vries BB, van Haelst MM, Zenker M, Markello TC.

Am J Hum Genet. 2015 Jul 2;97(1):99-110. doi: 10.1016/j.ajhg.2015.05.017. Epub 2015 Jun 25.

11.

Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors.

Lam C, Golas GA, Davids M, Huizing M, Kane MS, Krasnewich DM, Malicdan MC, Adams DR, Markello TC, Zein WM, Gropman AL, Lodish MB, Stratakis CA, Maric I, Rosenzweig SD, Baker EH, Ferreira CR, Danylchuk NR, Kahler S, Garnica AD, Bradley Schaefer G, Boerkoel CF, Gahl WA, Wolfe LA.

Mol Genet Metab. 2015 Jun-Jul;115(2-3):128-40. doi: 10.1016/j.ymgme.2015.04.007. Epub 2015 May 1.

PMID:
25943031
12.

Impaired osteoblast and osteoclast function characterize the osteoporosis of Snyder - Robinson syndrome.

Albert JS, Bhattacharyya N, Wolfe LA, Bone WP, Maduro V, Accardi J, Adams DR, Schwartz CE, Norris J, Wood T, Gafni RI, Collins MT, Tosi LL, Markello TC, Gahl WA, Boerkoel CF.

Orphanet J Rare Dis. 2015 Mar 7;10:27. doi: 10.1186/s13023-015-0235-8.

13.

Biallelic mutations in CAD, impair de novo pyrimidine biosynthesis and decrease glycosylation precursors.

Ng BG, Wolfe LA, Ichikawa M, Markello T, He M, Tifft CJ, Gahl WA, Freeze HH.

Hum Mol Genet. 2015 Jun 1;24(11):3050-7. doi: 10.1093/hmg/ddv057. Epub 2015 Feb 12.

14.

Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith-Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity.

Adams DR, Yuan H, Holyoak T, Arajs KH, Hakimi P, Markello TC, Wolfe LA, Vilboux T, Burton BK, Fajardo KF, Grahame G, Holloman C, Sincan M, Smith AC, Wells GA, Huang Y, Vega H, Snyder JP, Golas GA, Tifft CJ, Boerkoel CF, Hanson RW, Traynelis SF, Kerr DS, Gahl WA.

Mol Genet Metab. 2014 Nov;113(3):161-70. doi: 10.1016/j.ymgme.2014.04.001. Epub 2014 Apr 13.

15.

Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling.

Rice GI, del Toro Duany Y, Jenkinson EM, Forte GM, Anderson BH, Ariaudo G, Bader-Meunier B, Baildam EM, Battini R, Beresford MW, Casarano M, Chouchane M, Cimaz R, Collins AE, Cordeiro NJ, Dale RC, Davidson JE, De Waele L, Desguerre I, Faivre L, Fazzi E, Isidor B, Lagae L, Latchman AR, Lebon P, Li C, Livingston JH, Lourenço CM, Mancardi MM, Masurel-Paulet A, McInnes IB, Menezes MP, Mignot C, O'Sullivan J, Orcesi S, Picco PP, Riva E, Robinson RA, Rodriguez D, Salvatici E, Scott C, Szybowska M, Tolmie JL, Vanderver A, Vanhulle C, Vieira JP, Webb K, Whitney RN, Williams SG, Wolfe LA, Zuberi SM, Hur S, Crow YJ.

Nat Genet. 2014 May;46(5):503-9. doi: 10.1038/ng.2933. Epub 2014 Mar 30.

16.

Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment.

Zhang Y, Yu X, Ichikawa M, Lyons JJ, Datta S, Lamborn IT, Jing H, Kim ES, Biancalana M, Wolfe LA, DiMaggio T, Matthews HF, Kranick SM, Stone KD, Holland SM, Reich DS, Hughes JD, Mehmet H, McElwee J, Freeman AF, Freeze HH, Su HC, Milner JD.

J Allergy Clin Immunol. 2014 May;133(5):1400-9, 1409.e1-5. doi: 10.1016/j.jaci.2014.02.013. Epub 2014 Feb 28.

17.

Bright spots: Q fever prosthetic valve endocarditis.

Cunha BA, Wolfe LA, Gran A, Paruchuri V, Gubernikoff G.

Am J Med. 2013 Dec;126(12):1057-8. doi: 10.1016/j.amjmed.2013.08.011. Epub 2013 Oct 14. No abstract available.

PMID:
24135510
18.

Practice patterns of mitochondrial disease physicians in North America. Part 1: diagnostic and clinical challenges.

Parikh S, Goldstein A, Koenig MK, Scaglia F, Enns GM, Saneto R; Mitochondrial Medicine Society Clinical Directors Working Group.; MMS Clinical Director's Work Group., Anselm I, Collins A, Cohen BH, DeBrosse SD, Dimmock D, Falk MJ, Ganesh J, Greene C, Gropman AL, Haas R, Kahler SG, Kamholz J, Kendall F, Korson MS, Mattman A, Milone M, Niyazov D, Pearl PL, Reimschisel T, Salvarinova-Zivkovic R, Sims K, Tarnopolsky M, Tsao CY, van Hove J, Walsh L, Wolfe LA.

Mitochondrion. 2014 Jan;14(1):26-33. doi: 10.1016/j.mito.2013.07.116. Epub 2013 Jul 26.

PMID:
23891656
19.

Congenital disorders of glycosylation and intellectual disability.

Wolfe LA, Krasnewich D.

Dev Disabil Res Rev. 2013;17(3):211-25. doi: 10.1002/ddrr.1115. Review.

PMID:
23798010
20.

Kearns-Sayre syndrome presenting as isolated growth failure.

Holloman CM, Wolfe LA, Gahl WA, Boerkoel CF.

BMJ Case Rep. 2013 Feb 18;2013. pii: bcr2012007272. doi: 10.1136/bcr-2012-007272.

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