Hossein Najmabadi

A novel homozygous missense mutation in the GNE gene of a patient with quadriceps-sparing hereditary inclusion body myopathy associated with muscle inflammation

Wolfgang Müller-Felber, Heinz Wiendl, Sabine Krause, 2003, Neuromuscular Disorders.

Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants.

Thomas L Casavant, Todd E Scheetz, E Ann Black-Ziegelbein, 2014, American journal of human genetics.

Reducing the exome search space for Mendelian diseases using genetic linkage analysis of exome genotypes

Melanie Bahlo, Katherine R. Smith, P. Lockhart, 2011, Genome Biology.

Mutations in NSUN2 cause autosomal-recessive intellectual disability.

Dagmar Wieczorek, Stephan J Sigrist, Kirsten Cremer, 2012, American journal of human genetics.

LRP6 Mutation in a Family with Early Coronary Disease and Metabolic Risk Factors

Jayaram Radhakrishnan, Dan Wu, Shrikant Mane, 2007, Science.

Genetic male infertility and mutation of CATSPER ion channels

Marc Fellous, Jacques S Beckmann, J. Beckmann, 2010, European Journal of Human Genetics.

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

Wei Chen, Reinhard Ullmann, Dagmar Wieczorek, 2011, Nature.

Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development.

Frédéric Tran Mau-Them, Jean-François Deleuze, Elise Schaefer, 2017, American journal of human genetics.

The Cypriot and Iranian National Mutation Frequency Databases

George P Patrinos, Marina Kleanthous, Kyproula Christodoulou, 2006, Human mutation.