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Items: 1 to 50 of 60

1.

Correction: "Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals".

Yap KL, Johnson AEK, Fischer D, Kandikatla P, Deml J, Nelakuditi V, Halbach S, Jeha GS, Burrage LC, Bodamer O, Benavides VC, Lewis AM, Ellard S, Shah P, Cody D, Diaz A, Devarajan A, Truong L, Greeley SAW, De Leon DD, Edmondson AC, Das S, Thornton P, Waggoner D, Del Gaudio D.

Genet Med. 2018 Aug 11. doi: 10.1038/s41436-018-0126-1. [Epub ahead of print]

PMID:
30097611
2.

Reprogramming human T cell function and specificity with non-viral genome targeting.

Roth TL, Puig-Saus C, Yu R, Shifrut E, Carnevale J, Li PJ, Hiatt J, Saco J, Krystofinski P, Li H, Tobin V, Nguyen DN, Lee MR, Putnam AL, Ferris AL, Chen JW, Schickel JN, Pellerin L, Carmody D, Alkorta-Aranburu G, Del Gaudio D, Matsumoto H, Morell M, Mao Y, Cho M, Quadros RM, Gurumurthy CB, Smith B, Haugwitz M, Hughes SH, Weissman JS, Schumann K, Esensten JH, May AP, Ashworth A, Kupfer GM, Greeley SAW, Bacchetta R, Meffre E, Roncarolo MG, Romberg N, Herold KC, Ribas A, Leonetti MD, Marson A.

Nature. 2018 Jul;559(7714):405-409. doi: 10.1038/s41586-018-0326-5. Epub 2018 Jul 11.

PMID:
29995861
3.

Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes.

Sun M, Johnson AK, Nelakuditi V, Guidugli L, Fischer D, Arndt K, Ma L, Sandford E, Shakkottai V, Boycott K, Chardon JW, Li Z, Del Gaudio D, Burmeister M, Gomez CM, Waggoner DJ, Das S.

Genet Med. 2018 Jun 18. doi: 10.1038/s41436-018-0007-7. [Epub ahead of print]

PMID:
29915382
4.

Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals.

Yap KL, Johnson AEK, Fischer D, Kandikatla P, Deml J, Nelakuditi V, Halbach S, Jeha GS, Burrage LC, Bodamer O, Benavides VC, Lewis AM, Ellard S, Shah P, Cody D, Diaz A, Devarajan A, Truong L, Greeley SAW, De Leó-Crutchlow DD, Edmondson AC, Das S, Thornton P, Waggoner D, Del Gaudio D.

Genet Med. 2018 Jun 15. doi: 10.1038/s41436-018-0013-9. [Epub ahead of print] Erratum in: Genet Med. 2018 Aug 11;:.

PMID:
29907798
5.

Maturity-Onset Diabetes of the Young Overview.

Naylor R, Knight Johnson A, del Gaudio D.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2018 May 24.

6.

Molecular characterization of HDAC8 deletions in individuals with atypical Cornelia de Lange syndrome.

Helgeson M, Keller-Ramey J, Knight Johnson A, Lee JA, Magner DB, Deml B, Deml J, Hu YY, Li Z, Donato K, Das S, Laframboise R, Tremblay S, Krantz I, Noon S, Hoganson G, Burton J, Schaaf CP, Del Gaudio D.

J Hum Genet. 2018 Mar;63(3):349-356. doi: 10.1038/s10038-017-0387-6. Epub 2017 Dec 26.

PMID:
29279609
7.

FOXP3 mutations causing early-onset insulin-requiring diabetes but without other features of immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome.

Hwang JL, Park SY, Ye H, Sanyoura M, Pastore AN, Carmody D, Del Gaudio D, Wilson JF, Hanis CL, Liu X, Atzmon G, Glaser B, Philipson LH, Greeley SAW; T2D-Genes Consortium.

Pediatr Diabetes. 2018 May;19(3):388-392. doi: 10.1111/pedi.12612. Epub 2017 Nov 29.

PMID:
29193502
8.

Pancreatic Histopathology of Human Monogenic Diabetes Due to Causal Variants in KCNJ11, HNF1A, GATA6, and LMNA.

Sanyoura M, Jacobsen L, Carmody D, Del Gaudio D, Alkorta-Aranburu G, Arndt K, Hu Y, Kobiernicki F, Kusmartseva I, Atkinson MA, Philipson LH, Schatz D, Campbell-Thompson M, Greeley SAW.

J Clin Endocrinol Metab. 2018 Jan 1;103(1):35-45. doi: 10.1210/jc.2017-01159.

PMID:
28938416
9.

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.

10.

Alu-mediated deletion of PIGL in a Patient with CHIME syndrome.

Knight Johnson A, Schaefer GB, Lee J, Hu Y, Del Gaudio D.

Am J Med Genet A. 2017 May;173(5):1378-1382. doi: 10.1002/ajmg.a.38181. Epub 2017 Mar 28.

PMID:
28371479
11.

Effects of Cremation on Fetal Bones.

Zana M, Magli F, Mazzucchi A, Castoldi E, Gibelli D, Caccia G, Cornacchia F, Gaudio DA, Mattia M, Cattaneo C.

J Forensic Sci. 2017 Sep;62(5):1140-1144. doi: 10.1111/1556-4029.13414. Epub 2017 Jan 25.

PMID:
28120333
12.

Clinical utility of gene panel-based testing for hereditary myelodysplastic syndrome/acute leukemia predisposition syndromes.

Guidugli L, Johnson AK, Alkorta-Aranburu G, Nelakuditi V, Arndt K, Churpek JE, Godley LA, Townsley D, Young NS, Fitzpatrick C, Del Gaudio D, Das S, Li Z.

Leukemia. 2017 May;31(5):1226-1229. doi: 10.1038/leu.2017.28. Epub 2017 Jan 20. No abstract available.

13.

Study on the criteria for assessing skull-face correspondence in craniofacial superimposition.

Ibáñez O, Valsecchi A, Cavalli F, Huete MI, Campomanes-Alvarez BR, Campomanes-Alvarez C, Vicente R, Navega D, Ross A, Wilkinson C, Jankauskas R, Imaizumi K, Hardiman R, Jayaprakash PT, Ruiz E, Molinero F, Lestón P, Veselovskaya E, Abramov A, Steyn M, Cardoso J, Humpire D, Lusnig L, Gibelli D, Mazzarelli D, Gaudio D, Collini F, Damas S.

Leg Med (Tokyo). 2016 Nov;23:59-70. doi: 10.1016/j.legalmed.2016.09.009. Epub 2016 Oct 3.

PMID:
27890106
14.

Authors' Response.

Gaudio D, Olivieri L, Cattaneo C.

J Forensic Sci. 2016 Sep;61(5):1394-5. doi: 10.1111/1556-4029.13184. No abstract available.

PMID:
27621070
15.

Electrochemotherapy for basocellular and squamocellular head and neck cancer: preliminary experience in Day Surgery Unit.

Montuori M, Santurro L, Feliziani A, DE Sanctis F, Ricciardi E, Gaudio D, Campione E, Bianchi L, Silvi MB, Rossi P.

G Ital Dermatol Venereol. 2018 Feb;153(1):19-25. doi: 10.23736/S0392-0488.16.05373-6. Epub 2016 Jul 5.

PMID:
27377142
16.

Improved molecular diagnosis of patients with neonatal diabetes using a combined next-generation sequencing and MS-MLPA approach.

Alkorta-Aranburu G, Sukhanova M, Carmody D, Hoffman T, Wysinger L, Keller-Ramey J, Li Z, Johnson AK, Kobiernicki F, Botes S, Fitzpatrick C, Das S, Del Gaudio D.

J Pediatr Endocrinol Metab. 2016 May 1;29(5):523-31. doi: 10.1515/jpem-2015-0341.

PMID:
26894574
17.

Reliability of Craniofacial Superimposition Using Three-Dimension Skull Model.

Gaudio D, Olivieri L, De Angelis D, Poppa P, Galassi A, Cattaneo C.

J Forensic Sci. 2016 Jan;61(1):5-11. doi: 10.1111/1556-4029.12856. Epub 2015 Sep 3.

PMID:
26335587
18.

Study on the performance of different craniofacial superimposition approaches (I).

Ibáñez O, Vicente R, Navega DS, Wilkinson C, Jayaprakash PT, Huete MI, Briers T, Hardiman R, Navarro F, Ruiz E, Cavalli F, Imaizumi K, Jankauskas R, Veselovskaya E, Abramov A, Lestón P, Molinero F, Cardoso J, Çağdır AS, Humpire D, Nakanishi Y, Zeuner A, Ross AH, Gaudio D, Damas S.

Forensic Sci Int. 2015 Dec;257:496-503. doi: 10.1016/j.forsciint.2015.05.030. Epub 2015 May 28.

PMID:
26060056
19.

A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblings.

Li Z, Schonberg R, Guidugli L, Johnson AK, Arnovitz S, Yang S, Scafidi J, Summar ML, Vezina G, Das S, Chapman K, del Gaudio D.

J Hum Genet. 2015 Jul;60(7):363-9. doi: 10.1038/jhg.2015.31. Epub 2015 Mar 26.

20.

Age estimation from canine volumes.

De Angelis D, Gaudio D, Guercini N, Cipriani F, Gibelli D, Caputi S, Cattaneo C.

Radiol Med. 2015 Aug;120(8):731-6. doi: 10.1007/s11547-015-0521-5. Epub 2015 Feb 20.

PMID:
25698302
21.

Characterization of patients referred for non-specific intellectual disability testing: the importance of autosomal genes for diagnosis.

Tan CA, Topper S, Del Gaudio D, Nelakuditi V, Shchelochkov O, Nowaczyk MJM, Zeesman S, Brady L, Russell L, Meeks N, Sastry S, Arndt K, Kobiernicki F, Shaw R, Das S.

Clin Genet. 2016 Apr;89(4):478-483. doi: 10.1111/cge.12575. Epub 2015 Mar 15.

PMID:
25693842
22.

Surface curvature of pelvic joints from three laser scanners: separating anatomy from measurement error.

Villa C, Gaudio D, Cattaneo C, Buckberry J, Wilson AS, Lynnerup N.

J Forensic Sci. 2015 Mar;60(2):374-81. doi: 10.1111/1556-4029.12696. Epub 2015 Feb 13.

PMID:
25684259
23.

Sexual dimorphism of canine volume: a pilot study.

De Angelis D, Gibelli D, Gaudio D, Cipriani Noce F, Guercini N, Varvara G, Sguazza E, Sforza C, Cattaneo C.

Leg Med (Tokyo). 2015 May;17(3):163-6. doi: 10.1016/j.legalmed.2014.12.006. Epub 2014 Dec 20.

PMID:
25556039
24.

Assets and pitfalls of chemical and microscopic analyses on gunshot residues in skeletonized bodies: a report of five cases.

Amadasi A, Gibelli D, Mazzarelli D, Porta D, Gaudio D, Salsarola D, Brandone A, Rizzi A, Cattaneo C.

Int J Legal Med. 2015 Jul;129(4):819-24. doi: 10.1007/s00414-014-1107-9. Epub 2014 Nov 14.

PMID:
25394744
25.

Phenotypic heterogeneity in monogenic diabetes: the clinical and diagnostic utility of a gene panel-based next-generation sequencing approach.

Alkorta-Aranburu G, Carmody D, Cheng YW, Nelakuditi V, Ma L, Dickens JT, Das S, Greeley SAW, Del Gaudio D.

Mol Genet Metab. 2014 Dec;113(4):315-320. doi: 10.1016/j.ymgme.2014.09.007. Epub 2014 Sep 28.

26.

Application of high resolution pQCT analysis for the assessment of a bone lesion: a technical note.

Rubinacci A, Tresoldi D, Villa I, Rizzo G, Gaudio D, De Angelis D, Gibelli D, Cattaneo C.

Leg Med (Tokyo). 2015 Jan;17(1):60-4. doi: 10.1016/j.legalmed.2014.09.002. Epub 2014 Sep 16.

PMID:
25258096
27.

The difficult task of assessing perimortem and postmortem fractures on the skeleton: a blind text on 210 fractures of known origin.

Cappella A, Amadasi A, Castoldi E, Mazzarelli D, Gaudio D, Cattaneo C.

J Forensic Sci. 2014 Nov;59(6):1598-601. doi: 10.1111/1556-4029.12539. Epub 2014 Jul 3.

PMID:
24990801
28.

Copy number analysis of NIPBL in a cohort of 510 patients reveals rare copy number variants and a mosaic deletion.

Cheng YW, Tan CA, Minor A, Arndt K, Wysinger L, Grange DK, Kozel BA, Robin NH, Waggoner D, Fitzpatrick C, Das S, Del Gaudio D.

Mol Genet Genomic Med. 2014 Mar;2(2):115-23. doi: 10.1002/mgg3.48. Epub 2013 Nov 14.

29.

Clinical utility of next-generation sequencing for the molecular diagnosis of monogenic diabetes.

Johnson AK, Gaudio DD.

Per Med. 2014 Mar;11(2):155-165. doi: 10.2217/pme.13.111.

PMID:
29751380
30.

Keutel syndrome: report of two novel MGP mutations and discussion of clinical overlap with arylsulfatase E deficiency and relapsing polychondritis.

Weaver KN, El Hallek M, Hopkin RJ, Sund KL, Henrickson M, Del Gaudio D, Yuksel A, Acar GO, Bober MB, Kim J, Boyadjiev SA.

Am J Med Genet A. 2014 Apr;164A(4):1062-8. doi: 10.1002/ajmg.a.36390. Epub 2014 Jan 23.

PMID:
24458983
31.

Two novel RAD21 mutations in patients with mild Cornelia de Lange syndrome-like presentation and report of the first familial case.

Minor A, Shinawi M, Hogue JS, Vineyard M, Hamlin DR, Tan C, Donato K, Wysinger L, Botes S, Das S, Del Gaudio D.

Gene. 2014 Mar 10;537(2):279-84. doi: 10.1016/j.gene.2013.12.045. Epub 2013 Dec 27.

PMID:
24378232
32.

A point mutation in the gene for asparagine-linked glycosylation 10B (Alg10b) causes nonsyndromic hearing impairment in mice (Mus musculus).

Probst FJ, Corrigan RR, Del Gaudio D, Salinger AP, Lorenzo I, Gao SS, Chiu I, Xia A, Oghalai JS, Justice MJ.

PLoS One. 2013 Nov 26;8(11):e80408. doi: 10.1371/journal.pone.0080408. eCollection 2013.

33.

MCPH1 deletion in a newborn with severe microcephaly and premature chromosome condensation.

Pfau RB, Thrush DL, Hamelberg E, Bartholomew D, Botes S, Pastore M, Tan C, del Gaudio D, Gastier-Foster JM, Astbury C.

Eur J Med Genet. 2013 Nov;56(11):609-13. doi: 10.1016/j.ejmg.2013.09.007. Epub 2013 Sep 27.

PMID:
24080358
34.

Analysis of ASPM in an ethnically diverse cohort of 400 patient samples: perspectives of the molecular diagnostic laboratory.

Tan CA, del Gaudio D, Dempsey MA, Arndt K, Botes S, Reeder A, Das S.

Clin Genet. 2014 Apr;85(4):353-8. doi: 10.1111/cge.12172. Epub 2013 May 13.

PMID:
23611254
35.

Does cone beam CT actually ameliorate stab wound analysis in bone?

Gaudio D, Di Giancamillo M, Gibelli D, Galassi A, Cerutti E, Cattaneo C.

Int J Legal Med. 2014 Jan;128(1):151-9. doi: 10.1007/s00414-013-0820-0. Epub 2013 Feb 8.

PMID:
23392761
36.

The application of cone-beam CT in the aging of bone calluses: a new perspective?

Cappella A, Amadasi A, Gaudio D, Gibelli D, Borgonovo S, Di Giancamillo M, Cattaneo C.

Int J Legal Med. 2013 Nov;127(6):1139-44. doi: 10.1007/s00414-013-0824-9. Epub 2013 Feb 7.

PMID:
23389391
37.

Coarsening effect on island-size scaling: the model case InAs/GaAs(001).

Fanfoni M, Arciprete F, Tirabassi C, Del Gaudio D, Filabozzi A, Balzarotti A, Patella F, Placidi E.

Phys Rev E Stat Nonlin Soft Matter Phys. 2012 Dec;86(6 Pt 1):061605. Epub 2012 Dec 21.

PMID:
23367962
38.

Large duplication in MTM1 associated with myotubular myopathy.

Amburgey K, Lawlor MW, Del Gaudio D, Cheng YW, Fitzpatrick C, Minor A, Li X, Aughton D, Das S, Beggs AH, Dowling JJ.

Neuromuscul Disord. 2013 Mar;23(3):214-8. doi: 10.1016/j.nmd.2012.11.010. Epub 2012 Dec 28.

39.

Prenatal diagnostic conundrum involving a novel ATP7A duplication.

Schoonveld C, Donsante A, del Gaudio D, Waggoner D, Das S, Kaler SG.

Clin Genet. 2013 Jul;84(1):97-8. doi: 10.1111/cge.12041. Epub 2012 Nov 14. No abstract available.

40.

A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotype.

Hanchard NA, Carvalho CM, Bader P, Thome A, Omo-Griffith L, del Gaudio D, Pehlivan D, Fang P, Schaaf CP, Ramocki MB, Lupski JR, Cheung SW.

BMC Med Genet. 2012 Aug 10;13:71. doi: 10.1186/1471-2350-13-71.

41.

Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome.

Carvalho CM, Ramocki MB, Pehlivan D, Franco LM, Gonzaga-Jauregui C, Fang P, McCall A, Pivnick EK, Hines-Dowell S, Seaver LH, Friehling L, Lee S, Smith R, Del Gaudio D, Withers M, Liu P, Cheung SW, Belmont JW, Zoghbi HY, Hastings PJ, Lupski JR.

Nat Genet. 2011 Oct 2;43(11):1074-81. doi: 10.1038/ng.944.

42.

LCR-initiated rearrangements at the IDS locus, completed with Alu-mediated recombination or non-homologous end joining.

Oshima J, Lee JA, Breman AM, Fernandes PH, Babovic-Vuksanovic D, Ward PA, Wolfe LA, Eng CM, Del Gaudio D.

J Hum Genet. 2011 Jul;56(7):516-23. doi: 10.1038/jhg.2011.51. Epub 2011 May 19.

PMID:
21593745
43.

Detection of clinically relevant exonic copy-number changes by array CGH.

Boone PM, Bacino CA, Shaw CA, Eng PA, Hixson PM, Pursley AN, Kang SH, Yang Y, Wiszniewska J, Nowakowska BA, del Gaudio D, Xia Z, Simpson-Patel G, Immken LL, Gibson JB, Tsai AC, Bowers JA, Reimschisel TE, Schaaf CP, Potocki L, Scaglia F, Gambin T, Sykulski M, Bartnik M, Derwinska K, Wisniowiecka-Kowalnik B, Lalani SR, Probst FJ, Bi W, Beaudet AL, Patel A, Lupski JR, Cheung SW, Stankiewicz P.

Hum Mutat. 2010 Dec;31(12):1326-42. doi: 10.1002/humu.21360. Epub 2010 Nov 2.

44.

Dystrophinopathy in girls with limb girdle muscular dystrophy phenotype.

Golla S, Agadi S, Burns DK, Marks W, Dev Batish S, del Gaudio D, Iannaccone ST.

J Clin Neuromuscul Dis. 2010 Jun;11(4):203-8. doi: 10.1097/CND.0b013e3181c7f18f.

PMID:
20516809
45.

World War One Italian and Austrian soldier identification project: DNA results of the first case.

Piccinini A, Coco S, Parson W, Cattaneo C, Gaudio D, Barbazza R, Galassi A.

Forensic Sci Int Genet. 2010 Oct;4(5):329-33. doi: 10.1016/j.fsigen.2009.10.005. Epub 2009 Nov 5.

PMID:
20457025
46.

22q13.3 deletion syndrome: clinical and molecular analysis using array CGH.

Dhar SU, del Gaudio D, German JR, Peters SU, Ou Z, Bader PI, Berg JS, Blazo M, Brown CW, Graham BH, Grebe TA, Lalani S, Irons M, Sparagana S, Williams M, Phillips JA 3rd, Beaudet AL, Stankiewicz P, Patel A, Cheung SW, Sahoo T.

Am J Med Genet A. 2010 Mar;152A(3):573-81. doi: 10.1002/ajmg.a.33253.

47.

Regional genomic instability predisposes to complex dystrophin gene rearrangements.

Oshima J, Magner DB, Lee JA, Breman AM, Schmitt ES, White LD, Crowe CA, Merrill M, Jayakar P, Rajadhyaksha A, Eng CM, del Gaudio D.

Hum Genet. 2009 Sep;126(3):411-23. doi: 10.1007/s00439-009-0679-9. Epub 2009 May 16.

PMID:
19449031
48.

[The first anthropological study of the victims of World War I].

Gaudio D, Galassi A, Poppa P, Cattaneo C.

Med Secoli. 2009;21(3):1037-58. Italian.

PMID:
21563388
49.

Robinow syndrome: phenotypic variability in a family with a novel intragenic ROR2 mutation.

Brunetti-Pierri N, Del Gaudio D, Peters H, Justino H, Ott CE, Mundlos S, Bacino CA.

Am J Med Genet A. 2008 Nov 1;146A(21):2804-9. doi: 10.1002/ajmg.a.32530.

PMID:
18831060
50.

Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridization.

del Gaudio D, Yang Y, Boggs BA, Schmitt ES, Lee JA, Sahoo T, Pham HT, Wiszniewska J, Chinault AC, Beaudet AL, Eng CM.

Hum Mutat. 2008 Sep;29(9):1100-7. doi: 10.1002/humu.20841.

PMID:
18752307

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