@article{RosenbergAgarwalaBouffardetal.2002, author = {Rosenberg, Marjorie and Agarwala, Richa and Bouffard, Gerard and Davis, Joie and Fiermonte, Giuseppe and Hilliard, Mark and Koch, Thorsten and Kalikin, Linda and Makalowska, Izabela and Morton, D. and Petty, Elizabeth and Weber, James and Palmieri, Ferdinando and Kelley, Richard and Sch{\"a}ffer, Alejandro and Biesecker, Leslie}, title = {Mutant deoxynucleotide carrier DNC is associated with congenital microcephaly}, volume = {32}, journal = {Nature Genetics}, number = {1}, doi = {10.1038/ng948}, pages = {175 -- 179}, year = {2002}, language = {en} } @article{JohnstonKelleyCrawfordetal.2000, author = {Johnston, Jennifer and Kelley, Richard and Crawford, Thomas and Morton, D. and Agarwala, Richa and Koch, Thorsten and Sch{\"a}ffer, Alejandro and Francomano, Clair and Biesecker, Leslie}, title = {A novel nemaline myopathy in the Amish caused by a mutation in troponin T1}, volume = {67}, journal = {American Journal of Human Genetics}, pages = {814 -- 821}, year = {2000}, language = {en} }