Sheikh Riazuddin

发表

Mutations in GRM6 identified in consanguineous Pakistani families with congenital stationary night blindness

Tayyab Husnain, Radha Ayyagari, Shaheen N. Khan, 2015, Molecular vision.

A splice-site mutation in a retina-specific exon of BBS8 causes nonsyndromic retinitis pigmentosa.

Kang Zhang, Nicholas Katsanis, Donald J Zack, 2010, American journal of human genetics.

Genomewide significant linkage to stuttering on chromosome 12.

Nancy J Cox, Dennis Drayna, S. Steinberg, 2005, American journal of human genetics.

Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79.

Mohsin Shahzad, S. Riazuddin, Z. Ahmed, 2010, American journal of human genetics.

Actin-Bundling Protein TRIOBP Forms Resilient Rootlets of Hair Cell Stereocilia Essential for Hearing

Ikuko Fujiwara, James Sellers, John A. Hammer, 2010, Cell.

Mutations in the lysosomal enzyme-targeting pathway and persistent stuttering.

James C Mullikin, Donna Krasnewich, Dennis Drayna, 2010, The New England journal of medicine.

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.

Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders.

Christian Gilissen, Bonnie Nijhof, Annette Schenck, 2013, Human molecular genetics.

Splice-site mutations identified in PDE6A responsible for retinitis pigmentosa in consanguineous Pakistani families

Shahbaz Ali, Tayyab Husnain, Radha Ayyagari, 2015, Molecular vision.

Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes

Heidi L Rehm, Wadih M Zein, Zawar Hussain, 2011, Journal of Medical Genetics.