The combination of whole‐exome sequencing and clinical analysis allows better diagnosis of rare syndromic retinal dystrophies

NGS Technologies as a Turning Point in Rare Disease Research , Diagnosis and Treatment

(2018) Ana Fernandez-Marmiesse et al.   CURRENT MEDICINAL CHEMISTRY

A homozygous founder missense variant in arylsulfatase G abolishes its enzymatic activity causing atypical Usher syndrome in humans

(2018) Samer Khateb et al.   GENETICS IN MEDICINE

Clinical, biochemical, and genetic features associated with VARS2 -related mitochondrial disease

(2018) Francesco Bruni et al.   HUMAN MUTATION

Bi-allelic Truncating Mutations in CEP78 , Encoding Centrosomal Protein 78, Cause Cone-Rod Degeneration with Sensorineural Hearing Loss

(2016) Prasanthi Namburi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Opportunities and technical challenges in next-generation sequencing for diagnosis of rare pediatric diseases

(2016) Chiara Bacchelli et al.   EXPERT REVIEW OF MOLECULAR DIAGNOSTICS

Identification of genomic deletions causing inherited retinal degenerations by coverage analysis of whole exome sequencing data

(2016) Samer Khateb et al.   JOURNAL OF MEDICAL GENETICS

New perspective in diagnostics of mitochondrial disorders: two years’ experience with whole-exome sequencing at a national paediatric centre

(2016) Ewa Pronicka et al.   Journal of Translational Medicine

Neonatal encephalocardiomyopathy caused by mutations in VARS2

(2016) Fabian Baertling et al.   METABOLIC BRAIN DISEASE

Establishing the involvement of the novel gene AGBL5 in retinitis pigmentosa by whole genome sequencing

(2016) Kari Branham et al.   PHYSIOLOGICAL GENOMICS

Identification of the Photoreceptor Transcriptional Co-Repressor SAMD11 as Novel Cause of Autosomal Recessive Retinitis Pigmentosa

(2016) M. Corton et al.   Scientific Reports

Expanding the clinical, allelic and locus heterogeneity of retinal dystrophies

(2015) Nisha Patel et al.   GENETICS IN MEDICINE

Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies

(2015) Avigail Beryozkin et al.   Scientific Reports

Whole-Exome Sequencing Identifies KIZ as a Ciliary Gene Associated with Autosomal-Recessive Rod-Cone Dystrophy

(2014) Said El Shamieh et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in IFT172 cause isolated retinal degeneration and Bardet–Biedl syndrome

(2014) Kinga M. Bujakowska et al.   HUMAN MOLECULAR GENETICS

IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome

(2014) M. A. Aldahmesh et al.   HUMAN MOLECULAR GENETICS

VARS2andTARS2Mutations in Patients with Mitochondrial Encephalomyopathies

(2014) Daria Diodato et al.   HUMAN MUTATION

Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies

(2014) Robert W. Taylor et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

A homozygous nonsense CEP250 mutation combined with a heterozygous nonsense C2orf71 mutation is associated with atypical Usher syndrome

(2014) Samer Khateb et al.   JOURNAL OF MEDICAL GENETICS

Cytoplasmic carboxypeptidase 5 regulates tubulin glutamylation and zebrafish cilia formation and function

(2014) Narendra Pathak et al.   MOLECULAR BIOLOGY OF THE CELL

Rare ocular features in a case of Kabuki syndrome (Niikawa-Kuroki syndrome)

(2014) Yi-Hsing Chen et al.   BMC Ophthalmology

Multimodal imaging of the macula in hereditary and acquired lack of macular pigment

(2013) Thomas Theelen et al.   ACTA OPHTHALMOLOGICA

Cytosolic Carboxypeptidase 5 Removes α- and γ-Linked Glutamates from Tubulin

(2013) Iryna Berezniuk et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Zebrafish Cytosolic Carboxypeptidases 1 and 5 Are Essential for Embryonic Development

(2013) Peter J. Lyons et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The role of primary cilia in the development and disease of the retina

(2013) Gabrielle Wheway et al.   Organogenesis

Whole-Exome Sequencing Identifies LRIT3 Mutations as a Cause of Autosomal-Recessive Complete Congenital Stationary Night Blindness

(2012) Christina Zeitz et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Personalizing rare disease research: how genomics is revolutionizing the diagnosis and treatment of rare disease

(2012) Marisa P Dolled-Filhart et al.   Personalized Medicine

Exome Sequencing and cis-Regulatory Mapping Identify Mutations in MAK, a Gene Encoding a Regulator of Ciliary Length, as a Cause of Retinitis Pigmentosa

(2011) Rıza Köksal Özgül et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Whole-Exome Sequencing Links a Variant in DHDDS to Retinitis Pigmentosa

(2011) Stephan Züchner et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Strategies for exome and genome sequence data analysis in disease-gene discovery projects

(2011) PN Robinson et al.   CLINICAL GENETICS

Targeted polymerase chain reaction-based enrichment and next generation sequencing for diagnostic testing of congenital disorders of glycosylation

(2011) Melanie A. Jones et al.   GENETICS IN MEDICINE

Ciliopathies: an expanding disease spectrum

(2011) Aoife M. Waters et al.   PEDIATRIC NEPHROLOGY

Unlocking Mendelian disease using exome sequencing

(2011) Christian Gilissen et al.   GENOME BIOLOGY

A Family of Protein-Deglutamylating Enzymes Associated with Neurodegeneration

(2010) Krzysztof Rogowski et al.   CELL

Further delineation of the Cohen syndrome; report on chorioretinal dystrophy, leukopenia and consanguinity

(2010) Reuo Norio et al.   CLINICAL GENETICS

Sjögren-Larsson syndrome in Sweden. A clinical, genetic and epidemiological study

(2010) Sten Jagell et al.   CLINICAL GENETICS

Acquired myelinated nerve fibers in association with optic disk drusen

(2010) Renaud Duval et al.   JOURNAL OF AAPOS

Evaluation of Second-Generation Sequencing of 19 Dilated Cardiomyopathy Genes for Clinical Applications

(2010) Sivakumar Gowrisankar et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Next Generation Sequencing for Clinical Diagnostics-Principles and Application to Targeted Resequencing for Hypertrophic Cardiomyopathy

(2010) Karl V. Voelkerding et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Patients with Sjögren-Larsson Syndrome Lack Macular Pigment

(2010) Rob L.P. van der Veen et al.   OPHTHALMOLOGY

Next generation sequence analysis for mitochondrial disorders

(2009) Valeria Vasta et al.   Genome Medicine

New fundus findings in a case of Kabuki syndrome

(2008) J L Chuah et al.   EYE

Subclinical Changes in the Juvenile Crystalline Macular Dystrophy in Sjögren–Larsson Syndrome Detected by Optical Coherence Tomography

(2007) Joris Fuijkschot et al.   OPHTHALMOLOGY