Research Collaborators

Ataxia

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

Monogenic Diabetes

Monogenic Diabetes Registry

The University of Chicago
Dr. Siri Atma W. Greeley
Rochelle Naylor, MD
Louis Philpson, MD, PhD

Hereditary Hematologic Malignancies

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

Selected Publications

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.
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.
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
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.
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.
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.
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.
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].