Research Collaborators

Ataxia

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

Brain Malformations

Brain Malformation Studies

Seattle Children's Research Institute
Dr. William Dobyns

Congenital Myopathy

Congenital Myopathy Research Studies

Children's Hospital Boston
Dr. Allan Beggs
University of Toronto
Dr. James Dowling

Cornelia de Lange

Cornelia de Lange Research Study

Children's Hospital of Philadelphia
Dr. Ian Krantz
Dr. Matthew Deardorff

MCT8 Gene

MCT8 Research Study

The University of Chicago
Dr. Samuel Refetoff

NBIA

NBIA Study

Oregon Health and Science University
Dr. Susan Hayflick

Hereditary Hematologic Malignancies

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

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, In Press.
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
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.
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.
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.
2014
Congenital Malformations

Analysis of ASPM in an ethnically diverse cohort of 400 patient samples: Perspectives of the Molecular Diagnostic Laboratory.

18. Tan, CA, Arndt, K, Botes, S, Reeder, A, del Gaudio, D, Dempsey, M and Das, S. Clin. Genet. 2014, 85(4):353-8.
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.
2013
Congenital Malformations

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.
2013
Congenital Malformations

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.
2013
Neuromuscular

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.