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| 31735666 | Mutations in ANKLE2, a ZIKA Virus Target, Disrupt an Asymmetric Cell Division Pathway in Drosophila Neuroblasts to Cause Microcephaly. | Dev Cell | 2019 |
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| 30401460 | Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay. | Am J Hum Genet | 2018 |
| 28017472 | Loss of Nardilysin, a Mitochondrial Co-chaperone for α-Ketoglutarate Dehydrogenase, Promotes mTORC1 Activation and Neurodegeneration. | Neuron | 2017 |
| 26226137 | Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort. | Genet Med | 2016 |
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| 25296579 | The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey. | J Hum Genet | 2015 |
| 26539891 | Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease. | Neuron | 2015 |
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| 24242223 | Increased central corneal thickness in patients with Turner syndrome. | Eur J Ophthalmol | 2014 |
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| 25059019 | De novo interstitial deletion of 9q32-34.1 with mental retardation, developmental delay, epilepsy, and cortical dysplasia: a case report. | Genet Couns | 2014 |
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| 24341151 | Partial trisomy 11q and partial monosomy 12p due to the maternal translocation (11q;12p). | Genet Couns | 2013 |
| 22876589 | Structural chromosomal abnormalities in patients with mental retardation and/or multiple congenital anomalies: a new series of 24 patients. | Genet Couns | 2012 |
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