Publications

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2020
Scott, H. A. et al. Expanding the phenotypic spectrum in RDH12-associated retinal disease. Cold Spring Harb Mol Case Stud 6, (2020).
Abu-Ghname, A. et al. Extremity anomalies associated with Robinow syndrome. Am J Med Genet A (2020). doi:10.1002/ajmg.a.61884
Gonzaga-Jauregui, C. et al. Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide. Eur J Hum Genet 28, 1243-1264 (2020).
Gonzaga-Jauregui, C. et al. Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide. Eur J Hum Genet 28, 1243-1264 (2020).
Gonzaga-Jauregui, C. et al. Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide. Eur J Hum Genet 28, 1243-1264 (2020).
Zhang, L. Xin et al. Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants. Genet Med 22, 1338-1347 (2020).
Zhang, L. Xin et al. Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants. Genet Med 22, 1338-1347 (2020).
Zhang, L. Xin et al. Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants. Genet Med 22, 1338-1347 (2020).
Zhang, L. Xin et al. Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants. Genet Med 22, 1338-1347 (2020).
Zhang, L. Xin et al. Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants. Genet Med 22, 1338-1347 (2020).
Absalom, N. L. et al. Gain-of-function variants identified in vigabatrin-hypersensitive epileptic encephalopathies. Brain Commun 2, fcaa162 (2020).
Cowan, J. R. et al. Gain-of-Function Variants in Dilated Cardiomyopathy. Circ Genom Precis Med 13, e002892 (2020).
Siggs, O. M. et al. The genetic and clinical landscape of nanophthalmos and posterior microphthalmos in an Australian cohort. Clin Genet 97, 764-769 (2020).
Siggs, O. M. et al. The genetic and clinical landscape of nanophthalmos and posterior microphthalmos in an Australian cohort. Clin Genet 97, 764-769 (2020).
Siggs, O. M. et al. The genetic and clinical landscape of nanophthalmos and posterior microphthalmos in an Australian cohort. Clin Genet 97, 764-769 (2020).
Lin, M. et al. Genetic and molecular mechanism for distinct clinical phenotypes conveyed by allelic truncating mutations implicated in FBN1. Mol Genet Genomic Med 8, e1023 (2020).
Lin, M. et al. Genetic and molecular mechanism for distinct clinical phenotypes conveyed by allelic truncating mutations implicated in FBN1. Mol Genet Genomic Med 8, e1023 (2020).
Lin, M. et al. Genetic and molecular mechanism for distinct clinical phenotypes conveyed by allelic truncating mutations implicated in FBN1. Mol Genet Genomic Med 8, e1023 (2020).
Chen, S. et al. Genetic Burden Contributing to Extremely Low or High Bone Mineral Density in a Senior Male Population From the Osteoporotic Fractures in Men Study (MrOS). JBMR Plus 4, e10335 (2020).
Chen, S. et al. Genetic Burden Contributing to Extremely Low or High Bone Mineral Density in a Senior Male Population From the Osteoporotic Fractures in Men Study (MrOS). JBMR Plus 4, e10335 (2020).
Gulsuner, S. et al. Genetics of schizophrenia in the South African Xhosa. Science 367, 569-573 (2020).
Lilleväli, H. et al. Genome sequencing identifies a homozygous inversion disrupting QDPR as a cause for dihydropteridine reductase deficiency. Mol Genet Genomic Med 8, e1154 (2020).
Winkler, T. W. et al. Genome-wide association meta-analysis for early age-related macular degeneration highlights novel loci and insights for advanced disease. BMC Med Genomics 13, 120 (2020).
Kerner, G. et al. A genome-wide case-only test for the detection of digenic inheritance in human exomes. Proc Natl Acad Sci U S A 117, 19367-19375 (2020).
Kerner, G. et al. A genome-wide case-only test for the detection of digenic inheritance in human exomes. Proc Natl Acad Sci U S A 117, 19367-19375 (2020).
Hindy, G. et al. Genome-Wide Polygenic Score, Clinical Risk Factors, and Long-Term Trajectories of Coronary Artery Disease. Arterioscler Thromb Vasc Biol 40, 2738-2746 (2020).
Lenz, D. et al. Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1. Genet Med 22, 1863-1873 (2020).
Lenz, D. et al. Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1. Genet Med 22, 1863-1873 (2020).
Perrone, E. et al. Gomez-López-Hernández syndrome: A case report with clinical and molecular evaluation and literature review. Am J Med Genet A 182, 1761-1766 (2020).
Cook, S. A. et al. HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease. Science 369, 202-207 (2020).
Cook, S. A. et al. HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease. Science 369, 202-207 (2020).
Cook, S. A. et al. HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease. Science 369, 202-207 (2020).
Cook, S. A. et al. HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease. Science 369, 202-207 (2020).
Cook, S. A. et al. HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease. Science 369, 202-207 (2020).
Cook, S. A. et al. HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease. Science 369, 202-207 (2020).
Cook, S. A. et al. HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease. Science 369, 202-207 (2020).
Cook, S. A. et al. HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease. Science 369, 202-207 (2020).
Cook, S. A. et al. HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease. Science 369, 202-207 (2020).
Cook, S. A. et al. HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease. Science 369, 202-207 (2020).
Chau, A. S. et al. Heme oxygenase-1 deficiency presenting with interstitial lung disease and hemophagocytic flares. Pediatr Rheumatol Online J 18, 80 (2020).
Chau, A. S. et al. Heme oxygenase-1 deficiency presenting with interstitial lung disease and hemophagocytic flares. Pediatr Rheumatol Online J 18, 80 (2020).
Nomura, A. et al. Heterozygous Gene Deficiency and Risk of Coronary Artery Disease. Circ Genom Precis Med 13, 417-423 (2020).
Martin, E. M. M. A. et al. Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice. Hum Mol Genet 29, 3662-3678 (2020).
Martin, E. M. M. A. et al. Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice. Hum Mol Genet 29, 3662-3678 (2020).
Yang, N. et al. Human and mouse studies establish TBX6 in Mendelian CAKUT and as a potential driver of kidney defects associated with the 16p11.2 microdeletion syndrome. Kidney Int 98, 1020-1030 (2020).
O Onat, E. et al. Human CRY1 variants associate with attention deficit/hyperactivity disorder. J Clin Invest 130, 3885-3900 (2020).
Mace, E. M. et al. Human NK cell deficiency as a result of biallelic mutations in MCM10. J Clin Invest 130, 5272-5286 (2020).
Mace, E. M. et al. Human NK cell deficiency as a result of biallelic mutations in MCM10. J Clin Invest 130, 5272-5286 (2020).
Mace, E. M. et al. Human NK cell deficiency as a result of biallelic mutations in MCM10. J Clin Invest 130, 5272-5286 (2020).
Mace, E. M. et al. Human NK cell deficiency as a result of biallelic mutations in MCM10. J Clin Invest 130, 5272-5286 (2020).

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