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Expanding the Spectrum of γ-Secretase Gene Mutation-Associated Phenotypes: Two Novel Mutations Segregating with Familial Hidradenitis Suppurativa (Acne Inversa) and Acne Conglobata

Ratnamala, Uppala; Jhala, Devendrasinh; Jain, Nayan K.; Saiyed, Nazia M.; Raveendrababu, Meda; Rao, Mandava V.; Mehta, Timir Y.; Al-Ali, Faiza; Raval, Kavi; Nair, Sreelatha; Chandramohan, Nair K.; Kuracha, Murali R.; Nath, Swapan K.; Radhakrishna, Uppala (2016)

Genome-wide linkage and copy number variation analysis reveals 710 kb duplication on chromosome 1p31.3 responsible for autosomal dominant omphalocele

Radhakrishna, Uppala; Nath, Swapan K.; McElreavey, Ken; Ratnamala, Uppala; Sun, Celi; Maiti, Amit K.; Gagnebin, Maryline; Bena, Frederique; Newkirk, Heather L.; Sharp, Andrew J.; Everman, David B.; Murray, Jeffrey C.; Schwartz, Charles E.; Antonarakis, Stylianos E.; Butler, Merlin G. (2012)

Localization of a Gene for Keratoconus to a 5.6-Mb Interval on 13q32

Gajecka, Marzena; Radhakrishna, Uppala; Winters, Daniel; Nath, Swapan K.; Rydzanicz, Malgorzata; Ratnamala, Uppala; Ewing, Kimberly; Molinari, Andrea; Pitarque, Jose A.; Lee, Kwanghyuk; Leal, Suzanne M.; Bejjani, Bassem A. (2009)