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| 37457373 | Variants in <i>ACTC1</i> underlie distal arthrogryposis accompanied by congenital heart defects. | HGG Adv | 2023 |
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| 33275912 | Response to Hall et al. | Am J Hum Genet | 2020 |
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| 30117111 | DPAGT1 Deficiency with Encephalopathy (DPAGT1-CDG): Clinical and Genetic Description of 11 New Patients. | JIMD Rep | 2019 |
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| 29045054 | Variants regulating ZBTB4 are associated with age-at-onset of Alzheimer's disease. | Genes Brain Behav | 2018 |
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| 28216230 | Activation of a cryptic splice site in the mitochondrial elongation factor GFM1 causes combined OXPHOS deficiency. | Mitochondrion | 2017 |
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| 26931382 | ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients. | Hum Mutat | 2016 |
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| 25755104 | Speech and language in a genotyped cohort of individuals with Kabuki syndrome. | Am J Med Genet A | 2015 |
| 26264460 | Expanding the Molecular and Clinical Phenotype of SSR4-CDG. | Hum Mutat | 2015 |
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| 25957469 | Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3. | Am J Hum Genet | 2015 |
| 25683120 | De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay. | Am J Hum Genet | 2015 |
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| 24753205 | TCIRG1-associated congenital neutropenia. | Hum Mutat | 2014 |
| 24726473 | Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5. | Am J Hum Genet | 2014 |
| 24325963 | Toll-like receptor polymorphism associations with HIV-1 outcomes among sub-Saharan Africans. | J Infect Dis | 2014 |
| 24463784 | Variants in host viral replication cycle genes are associated with heterosexual HIV-1 acquisition in Africans. | J Acquir Immune Defic Syndr | 2014 |
| 23561849 | Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation. | Am J Hum Genet | 2013 |
| 23949773 | Multiple mutant T alleles cause haploinsufficiency of Brachyury and short tails in Manx cats. | Mamm Genome | 2013 |
| 22541558 | Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome. | Am J Hum Genet | 2012 |
| 21448684 | Cryptic gametic interactions confer both conspecific and heterospecific advantages in the Chrysochus (Coleoptera: Chrysomelidae) hybrid zone. | Genetica | 2011 |
| 21935451 | Host genetic risk factors for West Nile virus infection and disease progression. | PLoS One | 2011 |
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