DanielaDel GaudioDaniela Del Gaudio41.78927490000000-87.601250000000001768Del Gaudio, DanielaMolecular diagnostics, exome sequencing, array-CGH, CNV detection, monogenic diabetesMy main area of interest is the development and implementation of novel molecular technologies to the diagnosis of genetic disorders. Our laboratory provides molecular testing services for a wide variety of indications, including neurodevelopmental and congenital malformation disorders, hereditary forms of cancer and endocrine disorders. We use next-generation sequencing (NGS) techniques, including exome sequencing, as well as algorithms to infer copy number variations from NGS data, for the identification of disease-causing variants.
In addition to the implementation of clinical tests, I have an active interest in performing genotype-phenotype correlation studies to better delineate the mutational and phenotypic spectrum of genetic disorders, understanding the underlying molecular mechanisms for novel mutations identified through clinical testing as well as identifying potential novel disease genes. In the past few years, my most significant research contributions stem from my clinical work in the area of monogenic disorders of insulin secretion, specifically monogenic diabetes and congenital hyperinsulinism.Professorplugins:FeaturedVideosFeatured Videosprns:coAuthorOfcoauthor ofprns:emailEncryptedemail addressprns:endDateend dateprns:fullNamefull nameprns:hasAuthorListauthor listprns:hasNetworkhas networkprns:hasPublicationVenuepublished inprns:informationResourceReferenceinformation resource referenceprns:isPrimaryPositionis primary positionprns:latitudelatitudeprns:longitudelongitudeprns:mainImagephotoprns:maxWeightmaximum weightprns:medlineTAjournal title abbreviationprns:meshDescriptorUIMeSH DescriptorUIprns:meshSemanticGroupNameMeSH semantic group nameprns:minWeightminimum weightprns:numberOfAuthorsnumber of authorsprns:numberOfConnectionsnumber of connectionsprns:numberOfPublicationsnumber of publicationsprns:personIdPerson IDprns:personInPrimaryPositionperson in primary positionprns:physicalNeighborOfphysical neighborprns:pluginSearchableDataProfilesRNS Plugin Searchable Dataprns:positionInDepartmentposition in departmentprns:predicateNodepredicate nodeprns:publicationDatepublication dateprns:similarTosimilar toprns:sortOrdersort orderprns:trainingAtOrganizationeducational organizationprns:trainingLocationtraining locationprns:uniquenessWeightuniqueness weightprns:yearyearAcademic ArticleArticleDocumentbibo:pmidPubMed IdentifierAddressvivo:addressCitycityvivo:addressPostalCodepostal codevivo:addressStatestate or provincevivo:authorInAuthorshipselected publicationsvivo:authorRankauthor rank in publicationAuthorshipvivo:degreeEarneddegree earnedDepartmentvivo:educationalTrainingeducation and trainingEducational Trainingvivo:freetextKeywordkeywordsvivo:hasResearchArearesearch areasvivo:hrJobTitleHR job titleInformation Resourcevivo:linkAnchorTextlink anchor textvivo:linkedAuthorlinked authorvivo:linkedInformationResourcelinked information resourcevivo:mailingAddressmailing addressvivo:majorFieldmajor field of degreevivo:overviewoverviewvivo:personInPositionpositionsPositionvivo:positionInOrganizationposition in organizationvivo:preferredTitlepreferred titleURLLinkvivo:webpagewebpagerdf:predicatepredicaterdf:typetyperdfs:labellabelConceptAgentfoaf:firstNamefirst namefoaf:lastNamelast nameOrganizationPersonAuthorship 100909325693842Tan 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 SClinical geneticsCharacterization of patients referred for non-specific intellectual disability testing: the importance of autosomal genes for diagnosis. Clin Genet. 2016 Apr; 89(4):478-483.Clin Genet2015-03-15T00:00:002015Characterization of patients referred for non-specific intellectual disability testing: the importance of autosomal genes for diagnosis.Authorship 102407528371479Knight Johnson A, Schaefer GB, Lee J, Hu Y, Del Gaudio DAmerican journal of medical genetics. Part AAlu-mediated deletion of PIGL in a Patient with CHIME syndrome. Am J Med Genet A. 2017 May; 173(5):1378-1382.Am J Med Genet A2017-03-28T00:00:002017Alu-mediated deletion of PIGL in a Patient with CHIME syndrome.Pediatrics-EndocrinologyD003635Disorders5100.987958De Lange SyndromeAuthorship 11457221Authorship 11662919Authorship 11903024Authorship 11916113Authorship 11931825Authorship 1152324Authorship 1226167Authorship 1249532129995861Roth 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 ANatureReprogramming human T cell function and specificity with non-viral genome targeting. Nature. 2018 07; 559(7714):405-409.Nature2018-07-11T00:00:002018Reprogramming human T cell function and specificity with non-viral genome targeting.28914269Pena 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 VGenetics in medicine : official journal of the American College of Medical GeneticsLooking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases. Genet Med. 2018 04; 20(4):464-469.Genet Med2017-09-14T00:00:002017Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases.29279609Helgeson 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 DJournal of human geneticsMolecular characterization of HDAC8 deletions in individuals with atypical Cornelia de Lange syndrome. J Hum Genet. 2018 Mar; 63(3):349-356.J Hum Genet2017-12-26T00:00:002017Molecular characterization of HDAC8 deletions in individuals with atypical Cornelia de Lange syndrome.29907798Yap 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 DGenetics in medicine : official journal of the American College of Medical GeneticsCongenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 9 affected individuals. Genet Med. 2019 01; 21(1):233-242.Genet Med2018-06-15T00:00:002018Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 9 affected individuals.29193502Hwang 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 ConsortiumPediatric diabetesFOXP3 mutations causing early-onset insulin-requiring diabetes but without other features of immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome. Pediatr Diabetes. 2018 05; 19(3):388-392.Pediatr Diabetes2017-11-29T00:00:002017FOXP3 mutations causing early-onset insulin-requiring diabetes but without other features of immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome.30097611Yap 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 DGenetics in medicine : official journal of the American College of Medical GeneticsCorrection: "Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals". Genet Med. 2019 01; 21(1):262-265.Genet Med2019-01-01T00:00:002019Correction: "Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals".29915382Sun M, Johnson AK, Nelakuditi V, Guidugli L, Fischer D, Arndt K, Ma L, Sandford E, Shakkottai V, Boycott K, Warman-Chardon J, Li Z, Del Gaudio D, Burmeister M, Gomez CM, Waggoner DJ, Das SGenetics in medicine : official journal of the American College of Medical GeneticsTargeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes. Genet Med. 2019 01; 21(1):195-206.Genet Med2018-06-18T00:00:002018Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes.28938416Sanyoura 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 SAWThe Journal of clinical endocrinology and metabolismPancreatic Histopathology of Human Monogenic Diabetes Due to Causal Variants in KCNJ11, HNF1A, GATA6, and LMNA. J Clin Endocrinol Metab. 2018 01 01; 103(1):35-45.J Clin Endocrinol Metab2018-01-01T00:00:002018Pancreatic Histopathology of Human Monogenic Diabetes Due to Causal Variants in KCNJ11, HNF1A, GATA6, and LMNA.Authorship 129462431063852Sanyoura M, Letourneau L, Knight Johnson AE, Del Gaudio D, Greeley SAW, Philipson LH, Naylor RNDiabetes research and clinical practiceGCK-MODY in the US Monogenic Diabetes Registry: Description of 27 unpublished variants. Diabetes Res Clin Pract. 2019 May; 151:231-236.Diabetes Res Clin Pract2019-05-04T00:00:002019GCK-MODY in the US Monogenic Diabetes Registry: Description of 27 unpublished variants.1999University of Naples “Federico II"Naples, Italy University of Naples “Federico II", B.Sc. 2004University of Naples “Federico II"Naples, Italy University of Naples “Federico II", Clinical Biochemistry and Clinical Molecular BiologyPh.D.Clinical Biochemistry and Clinical Molecular Biology2007Department of Molecular and Human Genetics, Baylor College of MedicineHouston, TXDepartment of Molecular and Human Genetics, Baylor College of Medicine, ABMGG Certification-Clinical Molecular Genetics Authorship 1329701031534211Brandt T, Sack LM, Arjona D, Tan D, Mei H, Cui H, Gao H, Bean LJH, Ankala A, Del Gaudio D, Knight Johnson A, Vincent LM, Reavey C, Lai A, Richard G, Meck JMGenetics in medicine : official journal of the American College of Medical GeneticsAdapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variants. Genet Med. 2020 02; 22(2):336-344.Genet Med2019-09-19T00:00:002019Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variants.Authorship 308766Authorship 3813112Authorship 449889Authorship 1349451031844178Brandt T, Sack LM, Arjona D, Tan D, Mei H, Cui H, Gao H, Bean LJH, Ankala A, Del Gaudio D, Johnson AK, Vincent LM, Reavey C, Lai A, Richard G, Meck JMGenetics in medicine : official journal of the American College of Medical GeneticsCorrection: Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy-number variants. Genet Med. 2020 Mar; 22(3):670-671.Genet Med2020-03-01T00:00:002020Correction: Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy-number variants.Authorship 335413Authorship 351472Authorship 1356811432027066De Franco E, Saint-Martin C, Brusgaard K, Knight Johnson AE, Aguilar-Bryan L, Bowman P, Arnoux JB, Larsen AR, Sanyoura M, Greeley SAW, Calzada-León R, Harman B, Houghton JAL, Nishimura-Meguro E, Laver TW, Ellard S, Del Gaudio D, Christesen HT, Bellanné-Chantelot C, Flanagan SEHuman mutationUpdate of variants identified in the pancreatic ß-cell KATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes. Hum Mutat. 2020 05; 41(5):884-905.Hum Mutat2020-02-17T00:00:002020Update of variants identified in the pancreatic ß-cell KATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes.Authorship 136042332109420Nabais Sá MJ, El Tekle G, de Brouwer APM, Sawyer SL, Del Gaudio D, Parker MJ, Kanani F, van den Boogaard MH, van Gassen K, Van Allen MI, Wierenga K, Purcarin G, Elias ER, Begtrup A, Keller-Ramey J, Bernasocchi T, van de Wiel L, Gilissen C, Venselaar H, Pfundt R, Vissers LELM, Theurillat JP, de Vries BBAAmerican journal of human geneticsDe Novo Variants in SPOP Cause Two Clinically Distinct Neurodevelopmental Disorders. Am J Hum Genet. 2020 03 05; 106(3):405-411.Am J Hum Genet2020-02-27T00:00:002020De Novo Variants in SPOP Cause Two Clinically Distinct Neurodevelopmental Disorders.Authorship 359311Authorship 362082Authorship 136863132296163Del Gaudio D, Shinawi M, Astbury C, Tayeh MK, Deak KL, Raca G, ACMG Laboratory Quality Assurance CommitteeGenetics in medicine : official journal of the American College of Medical GeneticsDiagnostic testing for uniparental disomy: a points to consider statement from the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2020 07; 22(7):1133-1141.Genet Med2020-04-16T00:00:002020Diagnostic testing for uniparental disomy: a points to consider statement from the American College of Medical Genetics and Genomics (ACMG).Authorship 415206Authorship 137474432404922Deignan JL, Astbury C, Cutting GR, Del Gaudio D, Gregg AR, Grody WW, Monaghan KG, Richards S, ACMG Laboratory Quality Assurance CommitteeGenetics in medicine : official journal of the American College of Medical GeneticsCFTR variant testing: a technical standard of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2020 08; 22(8):1288-1295.Genet Med2020-05-14T00:00:002020CFTR variant testing: a technical standard of the American College of Medical Genetics and Genomics (ACMG).Authorship 4252811Authorship 310711Authorship 4633414Authorship 1414071433035329Feurstein S, Adegunsoye A, Mojsilovic D, Vij R, West DePersia AH, Rajagopal PS, Osman A, Collins RH, Kim RH, Gore SD, Greenberg P, Godley LA, Li Z, Del Gaudio D, Subramanian HP, Das S, Walsh T, Gulsuner S, Segal JP, Husain AN, Gurbuxani S, King MC, Strek ME, Churpek JEBlood advancesTelomere biology disorder prevalence and phenotypes in adults with familial hematologic and/or pulmonary presentations. Blood Adv. 2020 10 13; 4(19):4873-4886.Blood Adv2020-10-13T00:00:002020Telomere biology disorder prevalence and phenotypes in adults with familial hematologic and/or pulmonary presentations.WilliamDobynsWilliam B. Dobyns0.000000000000000.000000000000002964Dobyns, WilliamPROFESSOR Authorship 1422313433242881Mochel F, Rastetter A, Ceulemans B, Platzer K, Yang S, Shinde DN, Helbig KL, Lopergolo D, Mari F, Renieri A, Benetti E, Canitano R, Waisfisz Q, Plomp AS, Huisman SA, Wilson GN, Cathey SS, Louie RJ, Gaudio DD, Waggoner D, Kacker S, Nugent KM, Roeder ER, Bruel AL, Thevenon J, Ehmke N, Horn D, Holtgrewe M, Kaiser FJ, Kamphausen SB, Abou Jamra R, Weckhuysen S, Dalle C, Depienne CBrain : a journal of neurologyVariants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders. Brain. 2020 12 01; 143(12):3564-3573.Brain2020-12-01T00:00:002020Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders.Authorship 142917833369061Gileta AF, Helgeson ML, Leonard JMM, Pyle LC, Subramanian HP, Arndt K, Hawkes CP, Del Gaudio DAmerican journal of medical genetics. Part AFurther delineation of a recognizable type of syndromic short stature caused by biallelic SEMA3A loss-of-function variants. Am J Med Genet A. 2021 03; 185(3):889-893.Am J Med Genet A2020-12-23T00:00:002020Further delineation of a recognizable type of syndromic short stature caused by biallelic SEMA3A loss-of-function variants.Authorship 1435202533510405Feurstein S, Churpek JE, Walsh T, Keel S, Hakkarainen M, Schroeder T, Germing U, Geyh S, Heuser M, Thol F, Pohlkamp C, Haferlach T, Gao J, Owen C, Goehring G, Schlegelberger B, Verma D, Krause DS, Gao G, Cronin T, Gulsuner S, Lee M, Pritchard CC, Subramanian HP, Del Gaudio D, Li Z, Das S, Kilpivaara O, Wartiovaara-Kautto U, Wang ES, Griffiths EA, Döhner K, Döhner H, King MC, Godley LALeukemiaGermline variants drive myelodysplastic syndrome in young adults. Leukemia. 2021 08; 35(8):2439-2444.Leukemia2021-01-28T00:00:002021Germline variants drive myelodysplastic syndrome in young adults.Medicine-Hematology and Oncology17172942del Gaudio D, Fang P, Scaglia F, Ward PA, Craigen WJ, Glaze DG, Neul JL, Patel A, Lee JA, Irons M, Berry SA, Pursley AA, Grebe TA, Freedenberg D, Martin RA, Hsich GE, Khera JR, Friedman NR, Zoghbi HY, Eng CM, Lupski JR, Beaudet AL, Cheung SW, Roa BBGenetics in medicine : official journal of the American College of Medical GeneticsIncreased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males. Genet Med. 2006 Dec; 8(12):784-92.Genet Med2006-12-01T00:00:002006Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males.18500341Sahoo T, del Gaudio D, German JR, Shinawi M, Peters SU, Person RE, Garnica A, Cheung SW, Beaudet ALNature geneticsPrader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster. Nat Genet. 2008 Jun; 40(6):719-21.Nat Genet2008-05-25T00:00:002008Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster.19449031Oshima J, Magner DB, Lee JA, Breman AM, Schmitt ES, White LD, Crowe CA, Merrill M, Jayakar P, Rajadhyaksha A, Eng CM, del Gaudio DHuman geneticsRegional genomic instability predisposes to complex dystrophin gene rearrangements. Hum Genet. 2009 Sep; 126(3):411-23.Hum Genet2009-05-16T00:00:002009Regional genomic instability predisposes to complex dystrophin gene rearrangements.Authorship 145931833845048Sanyoura M, Lundgrin EL, Subramanian HP, Yu M, Sodadasi P, Greeley SAW, MacLeish S, Del Gaudio DDiabetes research and clinical practiceNovel compound heterozygous LRBA deletions in a 6-month-old with neonatal diabetes. Diabetes Res Clin Pract. 2021 May; 175:108798.Diabetes Res Clin Pract2021-04-15T00:00:002021Novel compound heterozygous LRBA deletions in a 6-month-old with neonatal diabetes.17108764Sahoo T, Cheung SW, Ward P, Darilek S, Patel A, del Gaudio D, Kang SH, Lalani SR, Li J, McAdoo S, Burke A, Shaw CA, Stankiewicz P, Chinault AC, Van den Veyver IB, Roa BB, Beaudet AL, Eng CMGenetics in medicine : official journal of the American College of Medical GeneticsPrenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization. Genet Med. 2006 Nov; 8(11):719-27.Genet Med2006-11-01T00:00:002006Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization.20516809Golla S, Agadi S, Burns DK, Marks W, Dev Batish S, del Gaudio D, Iannaccone STJournal of clinical neuromuscular diseaseDystrophinopathy in girls with limb girdle muscular dystrophy phenotype. J Clin Neuromuscul Dis. 2010 Jun; 11(4):203-8.J Clin Neuromuscul Dis2010-06-01T00:00:002010Dystrophinopathy in girls with limb girdle muscular dystrophy phenotype.18752307del Gaudio D, Yang Y, Boggs BA, Schmitt ES, Lee JA, Sahoo T, Pham HT, Wiszniewska J, Chinault AC, Beaudet AL, Eng CMHuman mutationMolecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridization. Hum Mutat. 2008 Sep; 29(9):1100-7.Hum Mutat2008-09-01T00:00:002008Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridization.18831060Brunetti-Pierri N, Del Gaudio D, Peters H, Justino H, Ott CE, Mundlos S, Bacino CAAmerican journal of medical genetics. Part ARobinow syndrome: phenotypic variability in a family with a novel intragenic ROR2 mutation. Am J Med Genet A. 2008 Nov 01; 146A(21):2804-9.Am J Med Genet A2008-11-01T00:00:002008Robinow syndrome: phenotypic variability in a family with a novel intragenic ROR2 mutation.18027081Moretti P, Peters SU, Del Gaudio D, Sahoo T, Hyland K, Bottiglieri T, Hopkin RJ, Peach E, Min SH, Goldman D, Roa B, Bacino CA, Scaglia FJournal of autism and developmental disordersBrief report: autistic symptoms, developmental regression, mental retardation, epilepsy, and dyskinesias in CNS folate deficiency. J Autism Dev Disord. 2008 Jul; 38(6):1170-7.J Autism Dev Disord2007-11-20T00:00:002007Brief report: autistic symptoms, developmental regression, mental retardation, epilepsy, and dyskinesias in CNS folate deficiency.21593745Oshima J, Lee JA, Breman AM, Fernandes PH, Babovic-Vuksanovic D, Ward PA, Wolfe LA, Eng CM, Del Gaudio DJournal of human geneticsLCR-initiated rearrangements at the IDS locus, completed with Alu-mediated recombination or non-homologous end joining. J Hum Genet. 2011 Jul; 56(7):516-23.J Hum Genet2011-05-19T00:00:002011LCR-initiated rearrangements at the IDS locus, completed with Alu-mediated recombination or non-homologous end joining.D017384Disorders1282030.929694Sequence Deletion20848651Boone 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 PHuman mutationDetection of clinically relevant exonic copy-number changes by array CGH. Hum Mutat. 2010 Dec; 31(12):1326-42.Hum Mutat2010-11-02T00:00:002010Detection of clinically relevant exonic copy-number changes by array CGH.21964572Carvalho 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 JRNature geneticsInverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome. Nat Genet. 2011 Oct 02; 43(11):1074-81.Nat Genet2011-10-02T00:00:002011Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome.Authorship 153314635237736Salguero MV, Chan K, Greeley SAW, Dyamenahalli U, Waggoner D, Del Gaudio D, Rajiyah T, Lemelman MJournal of the Endocrine SocietyNovel KDM6A Kabuki Syndrome Mutation With Hyperinsulinemic Hypoglycemia and Pulmonary Hypertension Requiring ECMO. J Endocr Soc. 2022 Apr 01; 6(4):bvac015.J Endocr Soc2022-02-07T00:00:002022Novel KDM6A Kabuki Syndrome Mutation With Hyperinsulinemic Hypoglycemia and Pulmonary Hypertension Requiring ECMO.Authorship 1542061435419889DeRoin L, Cavalcante de Andrade Silva M, Petras K, Arndt K, Phillips N, Wanjari P, Subramanian HP, Montes D, McElherne J, Theissen M, Briese R, Das S, Godley LA, Segal J, Del Gaudio D, Fitzpatrick C, Churpek JEHuman mutationFeasibility and limitations of cultured skin fibroblasts for germline genetic testing in hematologic disorders. Hum Mutat. 2022 07; 43(7):950-962.Hum Mutat2022-04-14T00:00:002022Feasibility and limitations of cultured skin fibroblasts for germline genetic testing in hematologic disorders.Authorship 154979735613340Shao J, Gao L, Leung ML, Gallinger B, Inglese C, Meyn MS, Del Gaudio D, Das S, Li ZHematological oncologyExome sequencing identifies PD-L2 as a potential predisposition gene for lymphoma. Hematol Oncol. 2022 Aug; 40(3):475-478.Hematol Oncol2022-05-29T00:00:002022Exome sequencing identifies PD-L2 as a potential predisposition gene for lymphoma.D059014Procedures2074530.760261High-Throughput Nucleotide SequencingD056915Physiology991710.898956DNA Copy Number Variations24689074Cheng YW, Tan CA, Minor A, Arndt K, Wysinger L, Grange DK, Kozel BA, Robin NH, Waggoner D, Fitzpatrick C, Das S, Del Gaudio DMolecular genetics & genomic medicineCopy number analysis of NIPBL in a cohort of 510 patients reveals rare copy number variants and a mosaic deletion. Mol Genet Genomic Med. 2014 Mar; 2(2):115-23.Mol Genet Genomic Med2013-11-14T00:00:002013Copy number analysis of NIPBL in a cohort of 510 patients reveals rare copy number variants and a mosaic deletion.https://cgh.uchicago.edu/page/leadershipGlobal Healthhttps://www.uchicagomedicine.org/find-a-physician/physician/olufunmilayo-i-olopadeUChicago Medicinehttps://genes.uchicago.edu/faculty/darrel-j-waggoner-mdMy departmental websitehttp://monogenicdiabetes.uchicago.eduMonogenic Diabetes Registryhttps://dnatesting.uchicago.edu/Genetic Services Laboratory https://cancerbio.uchicago.edu/program/faculty/olufunmilayo-olopadeCancer Biologyhttps://www.uchicagomedicine.org/conditions-services/cancer/cancer-risk-preventionCancer Risk and Preventionhttps://kovlerdiabetescenter.orgKovler Diabetes Center25306193Alkorta-Aranburu G, Carmody D, Cheng YW, Nelakuditi V, Ma L, Dickens JT, Das S, Greeley SAW, Del Gaudio DMolecular genetics and metabolismPhenotypic heterogeneity in monogenic diabetes: the clinical and diagnostic utility of a gene panel-based next-generation sequencing approach. Mol Genet Metab. 2014 Dec; 113(4):315-320.Mol Genet Metab2014-09-28T00:00:002014Phenotypic heterogeneity in monogenic diabetes: the clinical and diagnostic utility of a gene panel-based next-generation sequencing approach.D005820Procedures1725340.724008Genetic Testinghttps://genes.uchicago.edu/people/our-facultyDepartment of Human Genetics Human GeneticsMedicinePathologyUniversity of ChicagoLucyGodley22VmD60QeczMknJtY0fp/Cv/+94=Lucy Godley41.78927490000000-87.601250000000001017Godley, LucyProfessorAgataMinorAgata Minor41.78927490000000-87.60125000000000102Minor, AgataPostdoctoral ScholarT. ConradGilliam0GtlB6gUFL35hHlsaUXv9Gq0+s+oT. Conrad Gilliam41.78927490000000-87.60125000000000109Gilliam, T. ConradProfessorJonathanPritchardJonathan K. Pritchard41.78927490000000-87.601250000000001284Pritchard, JonathanPROFESSOR37556141Mitchell OD, Gilliam K, Del Gaudio D, McNeely KE, Smith S, Acevedo M, Gaduraju M, Hodge R, Ramsland ASS, Segal J, Das S, Hathaway F, Bryan DS, Tawde S, Galasinski S, Wang P, Tjota MY, Husain AN, Armato SG, Donington J, Ferguson MK, Turaga K, Churpek JE, Kindler HL, Drazer MWJAMA network openGermline Variants Incidentally Detected via Tumor-Only Genomic Profiling of Patients With Mesothelioma. JAMA Netw Open. 2023 08 01; 6(8):e2327351.JAMA Netw Open2023-08-01T00:00:002023Germline Variants Incidentally Detected via Tumor-Only Genomic Profiling of Patients With Mesothelioma.37534744Rehm HL, Alaimo JT, Aradhya S, Bayrak-Toydemir P, Best H, Brandon R, Buchan JG, Chao EC, Chen E, Clifford J, Cohen ASA, Conlin LK, Das S, Davis KW, Del Gaudio D, Del Viso F, DiVincenzo C, Eisenberg M, Guidugli L, Hammer MB, Harrison SM, Hatchell KE, Dyer LH, Hoang LU, Holt JM, Jobanputra V, Karbassi ID, Kearney HM, Kelly MA, Kelly JM, Kluge ML, Komala T, Kruszka P, Lau L, Lebo MS, Marshall CR, McKnight D, McWalter K, Meng Y, Nagan N, Neckelmann CS, Neerman N, Niu Z, Paolillo VK, Paolucci SA, Perry D, Pesaran T, Radtke K, Rasmussen KJ, Retterer K, Saunders CJ, Spiteri E, Stanley C, Szuto A, Taft RJ, Thiffault I, Thomas BC, Thomas-Wilson A, Thorpe E, Tidwell TJ, Towne MC, Zouk H, Medical Genome Initiative Steering CommitteeGenetics in medicine : official journal of the American College of Medical GeneticsThe landscape of reported VUS in multi-gene panel and genomic testing: Time for a change. Genet Med. 2023 Dec; 25(12):100947.Genet Med2023-07-30T00:00:002023The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change.Authorship 1657443GeorgeBakris0GBoa7McCszMknJtY0fp/Cv/+94=George Bakris41.78927490000000-87.601250000000001393Bakris, GeorgeProfessorBryanHowieBryan Howie41.78927490000000-87.601250000000001425Howie, BryanPostdoctoral ScholarSomaDasxGZoGIF1GuTQkntjbwjr93A=Soma Das41.78927490000000-87.601250000000001471Das, SomaProfessorAuthorship 166994181.791680.012158258research areas1.399250.041948925coauthor of56.17767.6686860similar to1150selected publicationsCarrie A.FitzpatrickCarrie A. Fitzpatrick41.78927490000000-87.601250000000001812Fitzpatrick, Carrie A.Associate ProfessorOlufunmilayoOlopade321vBIF1GuTQkntjbwjr93A=Olufunmilayo Olopade41.78927490000000-87.601250000000001960Olopade, OlufunmilayoProfessorMarcelo A.Nobrega2W1rGaQSGMzMknJtY0fp/Cv/+94=Marcelo A. Nobrega41.78927490000000-87.601250000000002531Nobrega, Marcelo A.ProfessorDarrel J.WaggonerDarrel J. Waggoner41.78927490000000-87.601250000000002539Waggoner, Darrel J.Clinical ProfessorYusukeNakamuraYusuke Nakamura41.78927490000000-87.60125000000000582Nakamura, YusukeEmeritus/Emerita, ProfessorSiri Atma W.GreeleyxGV7DqQZHPX5hHlsaUXv9Gq0+s+oSiri Atma W. Greeley41.78927490000000-87.60125000000000587Greeley, Siri Atma W.Associate ProfessorAuthorship 168344237994393Setia N, Del Gaudio D, Kandikatla P, Arndt K, Tjota M, Wang P, Segal J, Alikhan M, Hart JThe journal of pathology. Clinical researchA novel telomere biology disease-associated gastritis identified through a whole exome sequencing-driven approach. J Pathol Clin Res. 2024 Jan; 10(1):e349.J Pathol Clin Res2023-11-22T00:00:002023A novel telomere biology disease-associated gastritis identified through a whole exome sequencing-driven approach.true1ProfessorProfessortrue1ProfessorProfessortrue1Clinical ProfessorClinical Professortrue1PROFESSORPROFESSORtrue1Postdoctoral ScholarPostdoctoral Scholartrue1ProfessorProfessortrue1Postdoctoral ScholarPostdoctoral Scholartrue1ProfessorProfessortrue1PROFESSOR PROFESSOR true1Emeritus/Emerita, ProfessorEmeritus/Emerita, Professortrue1ProfessorProfessortrue1ProfessorProfessortrue1ProfessorProfessortrue1Associate ProfessorAssociate Professortrue1Associate ProfessorAssociate ProfessorAuthorship 720752Authorship 731438Authorship 7535811Authorship 737869Authorship 771693Authorship 775636Authorship 779471223611254Tan CA, del Gaudio D, Dempsey MA, Arndt K, Botes S, Reeder A, Das SClinical geneticsAnalysis of ASPM in an ethnically diverse cohort of 400 patient samples: perspectives of the molecular diagnostic laboratory. Clin Genet. 2014 Apr; 85(4):353-8.Clin Genet2013-05-13T00:00:002013Analysis of ASPM in an ethnically diverse cohort of 400 patient samples: perspectives of the molecular diagnostic laboratory.24303013Probst FJ, Corrigan RR, Del Gaudio D, Salinger AP, Lorenzo I, Gao SS, Chiu I, Xia A, Oghalai JS, Justice MJPloS oneA point mutation in the gene for asparagine-linked glycosylation 10B (Alg10b) causes nonsyndromic hearing impairment in mice (Mus musculus). PLoS One. 2013; 8(11):e80408.PLoS One2013-11-26T00:00:002013A point mutation in the gene for asparagine-linked glycosylation 10B (Alg10b) causes nonsyndromic hearing impairment in mice (Mus musculus).24378232Minor A, Shinawi M, Hogue JS, Vineyard M, Hamlin DR, Tan C, Donato K, Wysinger L, Botes S, Das S, Del Gaudio DGeneTwo novel RAD21 mutations in patients with mild Cornelia de Lange syndrome-like presentation and report of the first familial case. Gene. 2014 Mar 10; 537(2):279-84.Gene2013-12-27T00:00:002013Two novel RAD21 mutations in patients with mild Cornelia de Lange syndrome-like presentation and report of the first familial case.24080358Pfau RB, Thrush DL, Hamelberg E, Bartholomew D, Botes S, Pastore M, Tan C, del Gaudio D, Gastier-Foster JM, Astbury CEuropean journal of medical geneticsMCPH1 deletion in a newborn with severe microcephaly and premature chromosome condensation. Eur J Med Genet. 2013 Nov; 56(11):609-13.Eur J Med Genet2013-09-27T00:00:002013MCPH1 deletion in a newborn with severe microcephaly and premature chromosome condensation.24458983Weaver KN, El Hallek M, Hopkin RJ, Sund KL, Henrickson M, Del Gaudio D, Yuksel A, Acar GO, Bober MB, Kim J, Boyadjiev SAAmerican journal of medical genetics. Part AKeutel syndrome: report of two novel MGP mutations and discussion of clinical overlap with arylsulfatase E deficiency and relapsing polychondritis. Am J Med Genet A. 2014 Apr; 164A(4):1062-8.Am J Med Genet A2014-01-23T00:00:002014Keutel syndrome: report of two novel MGP mutations and discussion of clinical overlap with arylsulfatase E deficiency and relapsing polychondritis.Authorship 809281225809939Li Z, Schonberg R, Guidugli L, Johnson AK, Arnovitz S, Yang S, Scafidi J, Summar ML, Vezina G, Das S, Chapman K, del Gaudio DJournal of human geneticsA novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblings. J Hum Genet. 2015 Jul; 60(7):363-9.J Hum Genet2015-03-26T00:00:002015A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblings.Medicine-EndocrinologyChicago60637ILAuthorship 893681326894574Alkorta-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 DJournal of pediatric endocrinology & metabolism : JPEMImproved molecular diagnosis of patients with neonatal diabetes using a combined next-generation sequencing and MS-MLPA approach. J Pediatr Endocrinol Metab. 2016 May 01; 29(5):523-31.J Pediatr Endocrinol Metab2016-05-01T00:00:002016Improved molecular diagnosis of patients with neonatal diabetes using a combined next-generation sequencing and MS-MLPA approach.Authorship 60161622883432Hanchard NA, Carvalho CM, Bader P, Thome A, Omo-Griffith L, del Gaudio D, Pehlivan D, Fang P, Schaaf CP, Ramocki MB, Lupski JR, Cheung SWBMC medical geneticsA partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotype. BMC Med Genet. 2012 Aug 10; 13:71.BMC Med Genet2012-08-10T00:00:002012A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotype.Authorship 995091128104920Guidugli 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 ZLeukemiaClinical utility of gene panel-based testing for hereditary myelodysplastic syndrome/acute leukemia predisposition syndromes. Leukemia. 2017 05; 31(5):1226-1229.Leukemia2017-01-20T00:00:002017Clinical utility of gene panel-based testing for hereditary myelodysplastic syndrome/acute leukemia predisposition syndromes.