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Clinical Sequencing Papers of Note: Apr 5, 2011


Universal noninvasive detection of solid organ transplant rejection.
Snyder TM, Khush KK, Valantine HA, Quake SR.
Proc Natl Acad Sci U S A. 2011 Mar 28. [Epub ahead of print]

Mutations in the NKX2.5 gene and the PAX8 promoter in a girl with thyroid dysgenesis.
Hermanns P, Grasberger H, Refetoff S, Pohlenz J.
J Clin Endocrinol Metab. 2011 Mar 30. [Epub ahead of print]

Exome capture and massively parallel sequencing identifies a novel HPSE2 mutation in a Saudi Arabian child with Ochoa (urofacial) syndrome.
Al Badr W, Al Bader S, Otto E, et al.
J Pediatr Urol. 2011 Mar 28. [Epub ahead of print]

Whole-exome re-sequencing in a family quartet identifies POP1 mutations as the cause of a novel skeletal dysplasia.
Glazov EA, Zankl A, Donskoi M, et al.
PLoS Genet. 2011 Mar;7(3):e1002027.

A novel KCNQ1 variant (L203P) associated with torsades de pointes-related syncope in a Steinert syndrome patient.
Patoine D, Hasibu I, Pilote S, et al.
Can J Cardiol. 2011 Mar-Apr;27(2):263.e5-263.e12.

Implementation of an optimized strategy for genetic testing of the Chinese patients with oculocutaneous albinism.
Wei A, Yang X, Lian S, Li W.
J Dermatol Sci. 2011 Mar 5. [Epub ahead of print]

Identification of de novo mutations and rare variants in hypoplastic left heart syndrome.
Iascone M, Ciccone R, Galletti L, et al.
Clin Genet. 2011 Apr 1. [Epub ahead of print]