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Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 15, 2020
The morbid genome of ciliopathies: an updateHanan E Shamseldin, Ranad Shaheen, Nour Ewida, et al.Clinical Genetics|December 19, 2018
The many faces of peroxisomal disorders: Lessons from a large Arab cohortJumanah Alshenaifi, Nour Ewida, Shams Anazi, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 15, 2018
Genomic and phenotypic delineation of congenital microcephalyRanad Shaheen, Sateesh Maddirevula, Nour Ewida, et al.American Journal of Human Genetics|December 14, 2020
SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signalingYuh-Charn Lin, Marcello Niceta, Valentina Muto, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 22, 2018
Autozygome and high throughput confirmation of disease genes candidacySateesh Maddirevula, Fatema Alzahrani, Mohammed Al-Owain, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 6, 2018
Expanding the phenome and variome of skeletal dysplasiaSateesh Maddirevula, Saud Alsahli, Lamees Alhabeeb, et al.Cell Reports|January 6, 2015
Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous familiesAnas M Alazami, Nisha Patel, Hanan E Shamseldin, et al.Nature Genetics|February 14, 2017
Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfismJohn J Reynolds, Louise S Bicknell, Paula Carroll, et al.Nature Genetics|November 15, 2016
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomaliesClaire Redin, Harrison Brand, Ryan L Collins, et al.Pageof 9