E. Palmaer

Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients

Tina Pesaran, C. Gau, S. Keiles, 2014, Genetics in Medicine.

When moments matter: Finding answers with rapid exome sequencing

J. Graham, L. Randolph, E. Palmaer, 2019, Molecular genetics & genomic medicine.

Patient decisions for disclosure of secondary findings among the first 200 individuals undergoing clinical diagnostic exome sequencing

E. Palmaer, E. Chao, Sha Tang, 2013, Genetics in Medicine.

Clinical diagnostic exome sequencing in dystonia: Genetic testing challenges for complex conditions

Meghan C Towne, S. Sajan, E. Palmaer, 2019, Clinical genetics.

Clinical diagnostic exome evaluation for an infant with a lethal disorder: genetic diagnosis of TARP syndrome and expansion of the phenotype in a patient with a newly reported RBM10 alteration

E. Palmaer, Sha Tang, Z. Powis, 2017, BMC Medical Genetics.

De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function

S. Züchner, P. Bauer, R. Schüle, 2018, European Journal of Human Genetics.

De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function

S. Züchner, P. Bauer, R. Schüle, 2018, European Journal of Human Genetics.