Research Collaborators

Ataxia

The Ataxia Center
University of Chicago
Dr. Christopher Gomez
University of Michigan
Dr. Margit Burmeister

Hereditary Hematologic Malignancies

Comprehensive Cancer Center
University of Chicago
Dr. Lucy Godley
Dr. Jane Churpek

2020
Movement Disorders

Prevalence of RFC1-mediated spinocerebellar ataxia in a North American ataxia cohort

Dona Aboud Syriani, Darice Wong, Sameer Andani, Claudio M De Gusmao, Yuanming Mao, May Sanyoura, Giacomo Glotzer, Paul J Lockhart, Sharon Hassin-Baer, Vikram Khurana, Christopher M Gomez, Susan Perlman, Soma Das, Brent L Fogel. Neurology Genetics, 2020 May 20;6(3):e440. doi: 10.1212/NXG.0000000000000440.
2018
Movement Disorders

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 JW4, Li Z, Del Gaudio D, Burmeister M, Gomez CM, Waggoner DJ, Das S. Genetics in Medicine, doi: 10.1038/s41436-018-0007-7. [Epub ahead of print]
2018
Endocrinology

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

Yap KL1, 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. Genetics in Medicine. doi: 10.1038/s41436-018-0013-9. [Epub ahead of print]
2018
Endocrinology

Maturity-Onset Diabetes of the Young Overview

Naylor R, Knight Johnson A, and del Gaudio D. GeneReviews.
2017
Hereditary Cancer

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

Guidugli, L, Knight Johnson, A, 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., doi: 10.1038/leu.2017.28. [Epub ahead of print], 2017.
2017

Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar.

Harrison, SM, Dolinsky, JS, Knight Johnson, AE, Pesaran, T, Azzariti, DR, Bale, S, Chao, EC, Das, S, Vincent, L and Rehm, HL. Genetics in Medicine, Oct;19(10):1096-1104.
2017
Neurodevelopmental

Pantothenate kinase-associated neurodegeneration has a founder mutation (c.215_216insA) in Indian Agrawal patients.

Udani, V, Das, S, Chabbria, R. Movement Disorders Clinical Practice, In Press.
2016

A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories.

O’Daniel JM, McLaughlin HM, Amendola, LM, Bale, SJ, Berg, JS, Bick, D, Bowling, KM, Chung, WK, Conlin LK, Cooper, GM, Das, S, Deignan JL, Dorschner MO, Evans JPE, Ghazani AA, Goddard KA, Gornick M, Farwell Hagman KD, Hambuch T, Hegde M, Johnson AK, Mighion L, Morra M, Plon SE, Punj S, Richards CS, Santani A, Shirts BH, Spinner NB, Tang S, Weck KE, Wolf SM, Yang Y, Rehm HL. Genet. Med. 2016 Nov 3. doi:10.1038/gim.2016.152 [Epub ahead of print], 2016.
2015
Hereditary Cancer

Next generation sequencing reveals clinically actionable molecular markers in myeloid sarcoma.

Li Z, Stölzel F, Onel K, Sukhanova1 M, Mirza K.M., Larson R, Stock W, Sasaki M.M, Chen L, Reddy P, Joseph L, Raca G. Leukemia. 2015 Oct;29(10):2113-6.
2015
Congenital Malformations

De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes.

Gil-Rodriguez, MC, Deardorff, MA, Ansari, M, Tan, C, Baquero-Montoya, C, Bomme Ousager, L, Puisac, B, Hernandez-Marcos, M, Esperanza Teresa-Rodrigo, M, Marcos-Alcalde I, Bijlsma EK, Bueno-Martinez, I, Clark, D, Cooper NS, Curry, CJ, Fisher, R, Fryer, A, Ganesh, J, Gillessen-Kaesbach, G, Guo, Y, Hakonarson, H, Hopkin, RJ, Kaur, M, Keating, BJ, Kibaek, M, Kinning, E, Kleefstra T, Kline, AD, Li, YR, Picker, J, Queralt, E, Richer, J, Roeder, E, Sinha, A, Scott, RH, So, J, Wusik, KA, Wison, L, Gomez-Puertas, P, Casale, CH, Seliconi, A, Kaiser, FJ, Ramos, FJ, Jackson, LG, Krantz, ID, Das, S, Hennekam, RCM, Fitzpatrick, DR, Pie, J. Hum Mutat. 2015 Apr;36(4):454-62.
2015
Neurodevelopmental

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, Zeeman, S, Brady, L, Russell, L, Meeks, N, Sastry, S, Arndt, K, Kobiernicki, F, Shaw, R, Das, S. Clin Genet. 2015 Feb 19. doi: 10.1111/cge.12575. [Epub ahead of print].
2015
Exome

Clinical exome sequencing: the new standard in genetic diagnosis.

Gomez CM, Das S. Editorial. JAMA Neurol. Published online August 18, 2014. doi:10.1001/jamaneurol.2014.2015
2015
Epilepsy

Reinitiation of mRNA translation in a patient with X-linked infantile spasms with a protein-truncating variant in ARX.

Moey, C, Topper, S, Karn, M, Knight Johnson, A, Das, S, Vidaurre, J, Shoubridge, C. Eur. J. Hum. Genet. 2015 August 26. doi:10.1038/ejhg.2015.176. [Epub ahead of print]
2015
Brain Malformations

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.
2014
Congenital Malformations

The first case of CDK5RAP2-related primary microcephaly in a non-consanguineous patient identified by next generation sequencing.

Tan, CA, Topper, S, Ward Melver, C, Stein, J, Reeder, A, Arndt, K and Das, S. Brain Dev. 2014, 36(4):351-5.
2014
Congenital Malformations

Molecular confirmation of nine cases of Cornelia de Lange syndrome diagnosed prenatally.

Dempsey, MA, Knight Johnson, AE, Swope, BS, Moldenhauer, JS, Sroka, H, Chong, K, Chitayat, D, Briere, L, Lyon, H, Palmer, N, Gopalani, S, Siebert, JR, Levesque, S, LeBlanc, J, Menzies, D, Haverfield, E and Das, S. Prenatal Diagnosis. 2014, 34(2):163-7.
2014
Congenital Malformations

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, 537(2): 279-284.
2014
Endocrinology

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, Y-W, Nelakuditi, V, Ma, L, Dickens JT, Das, S, Greeley, SA, del Gaudio, D. Mol. Genet and Metabolism. 2014, 113(4):315-20.
2014
Congenital Malformations

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. Keutel 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.
2014
Congenital Malformations

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

18. 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, 2(2):115-23.