Associated Papers
Genomic alterations in ovarian endometriosis and subsequently diagnosed ovarian carcinoma.
Linder A et al.
Human Reproduction (oxford, England), 2024
A systematic review of inherited retinal dystrophies in Pakistan: updates from 1999 to April 2023.
Munir A et al.
Bmc Ophthalmology, 2024
RPGRIP1-related retinal disease presenting as isolated cone dysfunction.
Khan AO
Ophthalmic Genetics, 2023
Identifying two pathogenic variants in a patient with pigmented paravenous retinochoroidal atrophy.
Liu Z et al.
Open Life Sciences, 2023
Genetics of congenital anomalies of the hand.
Kyriazis Z et al.
World Journal of Orthopedics, 2022
Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.
Maddirevula S et al.
Genome Biology, 2020
Investigation of new candidate genes in retinoblastoma using the TruSight One "clinical exome" gene panel.
Akdeniz D et al.
Molecular Genetics & Genomic Medicine, 2019
Thumb duplication: molecular analysis of different clinical types.
Kyriazis Z et al.
European Journal of Orthopaedic Surgery & Traumatology : Orthopedie Traumatologie, 2019
Arylsulphatase A Pseudodeficiency (ARSA-PD), hypertension and chronic renal disease in Aboriginal Australians.
Tang D et al.
Scientific Reports, 2018
Whole exome sequencing in three families segregating a pediatric case of sarcoidosis.
Calender A et al.
Bmc Medical Genomics, 2018
Prescreening whole exome sequencing results from patients with retinal degeneration for variants in genes associated with retinal degeneration.
Bryant L et al.
Clinical Ophthalmology (auckland, N.z.), 2018
The genetic profile of Leber congenital amaurosis in an Australian cohort.
Thompson JA et al.
Molecular Genetics & Genomic Medicine, 2017
Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan.
Ilyas M et al.
Bmc Genomics, 2015
Kuwaiti population subgroup of nomadic Bedouin ancestry-Whole genome sequence and analysis.
John SE et al.
Genomics Data, 2015
Mutational screening of LCA genes emphasizing RPE65 in South Indian cohort of patients.
Verma A et al.
Plos One, 2013
Integrating precision medicine in the study and clinical treatment of a severely mentally ill person.
O'Rawe JA et al.
Peerj, 2013
Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture.
Stone EM
American Journal of Ophthalmology, 2007
RPGRIP1 is mutated in Leber congenital amaurosis: a mini-review.
Koenekoop RK
Ophthalmic Genetics, 2005
Identification of mutations in the AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 genes in patients with juvenile retinitis pigmentosa.
Booij JC et al.
Journal of Medical Genetics, 2005
Characterisation of deletions of the ZFHX1B region and genotype-phenotype analysis in Mowat-Wilson syndrome.
Zweier C et al.
Journal of Medical Genetics, 2003
Progressive cone and cone-rod dystrophies: phenotypes and underlying molecular genetic basis.
Michaelides M et al.
Survey of Ophthalmology, 0