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

2005
Neurodevelopmental

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.
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
2004
Epilepsy

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.
2004
Neurodevelopmental

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.
2004
Epilepsy

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.
2002
Neuromuscular

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.
1997
Neurodevelopmental

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.