Research Collaborators


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 Study

Oregon Health and Science University
Dr. Susan Hayflick

Hereditary Hematologic Malignancies

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


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.

Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster.

Sahoo T, del Gaudio D, German JR, Shinawi M, Peters SU, Person RE, Garnica A, Cheung SW, Beaudet AL. Nat Genet. 2008 Jun;40(6):719-21.

Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males.

del 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 BB. Genet Med. 2006 Dec;8(12):784-92.

NSD1 analysis for Sotos syndrome – insights and perspectives from the clinical laboratory.

Waggoner, DJ, Raca, G, Welch, K, Dempsey, M, Anderes, E, Ostrovnaya, I, Alkhateeb, A, Kamimura, J, Matsumoto, N, Schaeffer, GB, Martin, CL and Das, S. Genet. in Med. 7:524-533, 2005.

Technical standards and guidelines: molecular genetic testing for ultra-rare disorders.

Maddalena, A, Bale, S, Das, S, Grody, W, Richards, S and the ACMG Laboratory Quality Assuarance Committee. Genet. in Med. 7: 571-583, 2005

Non syndromic mental retardation and cryptogenic epilepsy in females with DCX mutations.

3. Guerrini, R, Moro, F, Andermann, E, Hughes, E, D’Agostino, D, Carrozzo, R, Bernasconi, A, Flinter, F, Parmeggiani, L, Volzone, A, Parrini, E, Mei, D, Jarosz, JM, Morris, RG, Pratt, P, Tortorella, G, Dubeau, F, Andermann, F, Dobyns, WB and Das, S. Annals of Neurol. 54:30-37, 2003.

Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation.

Kato, M, Das, S, Petras, K, Kitamura, K, Morohashi, K, Abuelo, D, Barr, M, Bonneau, D, Brady, A, Carpenter, N, Cipero, K, Frisone, F, Fukuda, T, Guerrini, R, Iida, E, Itoh, M, Lewanda, A, Nanba, Y, Oka, A, Proud, V, Saugier-Veber, P, Schelley, S, Selicorni, A, Shaner, R, Silengo, M, Stewart, F, Sugiyama, N, Toyama, J, Toutain, A, Vargas, A, Yanazawa, M, Zackai, E and Dobyns, WB. Hum. Mut. 23:147-159, 2004.

Deletion analysis of the imprinting center region in patients with Angelman syndrome and Prader-Willi syndrome.

Raca, G., Buiting, K. and Das, S. Genetic Testing. 8(4):387-394, 2004.

Characterization of mutations in fifty north american patients with X-linked myotubular myopathy.

Herman, G, Kopacz, K, Zhao, W, Mills, PL, Metzenberg, A and Das S. Human Mutation. 19:114-121, 2002.

Methylation-specific PCR simplifies imprinting analysis.

Kubota, T, Das, S, Christian, S, Baylin, S, Herman, J and Ledbetter, D. Nature Genetics, 16, 16-17, 1997.