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

2013
Epilepsy

CDKL5 and ARX mutations in males with early-onset epilepsy.

Mirzaa, GM, Paciorkowski, AR, Marsh, ED, Berry-Kravis, EM, Medne, L, Grix, A, Wirrell, EC, Powell, BR, Nickels, KC, Burton, B, Paras, A, Kim, K, Chung, W, Dobyns, WB and Das, S. Ped. Neurology. 2013, 48(5): 367-377
2013
Neurodevelopmental

Prenatal diagnostic conundrum involving a novel ATP7A duplication.

Schoonveld C, Donsante A, del Gaudio D, Waggoner D, Das S, Kaler SG. Clin Genet. 2013 Jul;84(1):97-8.
2012
Neuromuscular

Clinical Utility Gene Cards for centronuclear and myotubular myopathies.

Biancalana, V, Beggs, AH, Das, S, Jungbluth, H, Kress, W, Nishino, I, North, K, Romero, NB and Laporte, J. Eur. J. Hum. Genet. 20(10). doi: 10.1038/ejhg.2012.91. 2012.
2012
Neuromuscular

Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.

Bohm, J, Biancalana, V, Dechene, ET, Bitoun, M, 60 authors, Das, S, Mandel, JL, Beggs, AH, Laporte, J. Hum. Mutation. 2012, 33(6):949-959.
2012

Assuring the quality of next-generation sequencing in clinical laboratory practice.

Gargis, A, Kalman, L, Berry, MW, Bick, DP, Dimmock, DP, Hambuch, T, Lu, F, Lyon, E, Voelkerding, KV, Zehnbauer, BA Agarwala, R, Bennett, SF, Chen, B, Chin, ELH, Compton, JG, Das, S, Farkas, DH, Ferber, MJ, Funke, BH, Furtado, MR, Ganova-Raeva, LM, Geigenmüller, U, Gunselman, SJ, Hegde, MR, Johnson, PLF, Kasarskis, A, Kulkarni, S, Lenk, T, Liu, CSJ, Manion, M, Manolio, TA, Mardis, ER, Merker, JD, Rajeevan, MS, Reese, MG, Rehm, HL, Simen, BB, Yeakley, JM, Zook, JM, Lubin, IM. Nature Biotechnology. 2012, 30(11):1033-1036.
2012
Neurodevelopmental

A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3'untranslated region in the MECP2 duplication phenotype.

Hanchard NA, Carvalho CM, Bader P, Thome A, Omo-Griffith L, del Gaudio D, Pehlivan D, Fang P, Schaaf CP, Ramocki MB, Lupski JR, Cheung SW. BMC Med Genet. 2012 Aug 10;13:71.
2011
Neurodevelopmental

The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis.

Kortüm, F, Das, S, Flindt, M, Morris-Rosendahl, D, Stefanova, I, Goldstein A, Horn, D, Klopocki, E, Kluger, G, Martin, P, Rauch, A, Roumer, A, Saitta, S, Walsh, LE, Wieczorek, D, Uyanik, G, Kutsche, K, and Dobyns, WB. J. Med. Genet. 2011, 48(6):396-406
2011
Exome

Exome sequencing and the genetics of intellectual disability.

Topper, S, Ober, C and Das, S. Clin. Genet. 2011, 80(2):117-126.
2011
Neuromuscular

X-Linked Centronuclear Myopathy.

Das, S, Dowling, J, Pierson CR. (October 2011) In: GeneReviews: Genetic Disease Online Reviews at GeneTests-GeneClinics [database online]. Copyright, University of Washington, Seattle. 1997-2011.
2011

Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome.

Carvalho 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 JR. Nat Genet. 2011 Oct 2;43(11):1074-81.
2011
Neurodevelopmental

LCR-initiated rearrangements at the IDS locus, completed with Alu-mediated recombination or non-homologous end joining.

Oshima J, Lee JA, Breman AM, Fernandes PH, Babovic-Vuksanovic D, Ward PA, Wolfe LA, Eng CM, Del Gaudio D. J Hum Genet. 2011 Jul;56(7):516-23.
2010

Detection of clinically relevant exonic copy-number changes by array CGH.

Boone 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 P. Hum Mutat. 2010 Dec;31(12):1326-42.
2010
Neurodevelopmental

22q13.3 deletion syndrome: clinical and molecular analysis using array CGH.

Dhar SU, del Gaudio D, German JR, Peters SU, Ou Z, Bader PI, Berg JS, Blazo M, Brown CW, Graham BH, Grebe TA, Lalani S, Irons M, Sparagana S, Williams M, Phillips JA 3rd, Beaudet AL, Stankiewicz P, Patel A, Cheung SW, Sahoo T. Am J Med Genet A. 2010 Mar;152A(3):573-81.
2009
Neuromuscular

Regional genomic instability predisposes to complex dystrophin gene rearrangements.

Oshima J, Magner DB, Lee JA, Breman AM, Schmitt ES, White LD, Crowe CA, Merrill M, Jayakar P, Rajadhyaksha A, Eng CM, del Gaudio D. Hum Genet. 2009 Sep;126(3):411-23.
2009
Brain Malformations

Intragenic deletions and duplications of the LIS1 and DCX genes - a major disease-causing mechanism in lissencephaly and subcortical band heterotopia.

Haverfield, EH, Whited, AJ, Petras, KS, Dobyns, WB and Das, S. Eur J Hum Genet. Jul;17(7):911-8, 2009.
2009
Brain Malformations

LIS1-Associated Lissencephaly/Subcortical Band Heterotopia.

Dobyns, WB and Das S. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle. 2009 Mar 3 [Updated 2014 Aug 14].
2008
Neuromuscular

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.
2008
Neurodevelopmental

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.
2006
Neurodevelopmental

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.