Publications

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Beckers, A. et al. X-linked acrogigantism syndrome: clinical profile and therapeutic responses. Endocr Relat Cancer 22, 353-67 (2015).
Sadedin, S. P., Ellis, J. A., Masters, S. L. & Oshlack, A. Ximmer: a system for improving accuracy and consistency of CNV calling from exome data. Gigascience 7, (2018).
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Somineni, H. K. et al. Whole-genome sequencing of African Americans implicates differential genetic architecture in inflammatory bowel disease. Am J Hum Genet 108, 431-445 (2021).
Levinsohn, J. L. et al. Whole-exome sequencing reveals somatic mutations in HRAS and KRAS, which cause nevus sebaceus. J Invest Dermatol 133, 827-830 (2013).
Warejko, J. K. et al. Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome. Clin J Am Soc Nephrol 13, 53-62 (2018).
Braun, D. A. et al. Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity. Kidney Int 89, 468-475 (2016).
Braun, D. A. et al. Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity. Kidney Int 89, 468-475 (2016).
Jobst-Schwan, T. et al. Whole exome sequencing identified ATP6V1C2 as a novel candidate gene for recessive distal renal tubular acidosis. Kidney Int 97, 567-579 (2020).
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O'Grady, G. L. et al. Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization. Am J Hum Genet 99, 1086-1105 (2016).
O'Grady, G. L. et al. Variants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndrome. Neurology 87, 1442-1448 (2016).
Muir, A. M. et al. Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia. Genet Med 23, 881-887 (2021).
Bayer, D. K. et al. Vaccine-associated varicella and rubella infections in severe combined immunodeficiency with isolated CD4 lymphocytopenia and mutations in IL7R detected by tandem whole exome sequencing and chromosomal microarray. Clin Exp Immunol 178, 459-69 (2014).
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Vogelaar, I. P. et al. Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing. Eur J Hum Genet 25, 1246-1252 (2017).
Schmitz-Abe, K. et al. Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes. Eur J Hum Genet (2019). doi:10.1038/s41431-019-0401-x
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Sajuthi, S. P. et al. Type 2 and interferon inflammation strongly regulate SARS-CoV-2 related gene expression in the airway epithelium. bioRxiv (2020). doi:10.1101/2020.04.09.034454
Sajuthi, S. P. et al. Type 2 and interferon inflammation regulate SARS-CoV-2 entry factor expression in the airway epithelium. Nat Commun 11, 5139 (2020).
Boisson-Dupuis, S. et al. Tuberculosis and impaired IL-23-dependent IFN-γ immunity in humans homozygous for a common missense variant. Sci Immunol 3, (2018).
Boisson-Dupuis, S. et al. Tuberculosis and impaired IL-23-dependent IFN-γ immunity in humans homozygous for a common missense variant. Sci Immunol 3, (2018).
Boisson-Dupuis, S. et al. Tuberculosis and impaired IL-23-dependent IFN-γ immunity in humans homozygous for a common missense variant. Sci Immunol 3, (2018).
Wiszniewski, W. et al. TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities. Am J Hum Genet 93, 197-210 (2013).
Wiszniewski, W. et al. TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities. Am J Hum Genet 93, 197-210 (2013).
J Bodkin, A. et al. Targeted Treatment of Individuals With Psychosis Carrying a Copy Number Variant Containing a Genomic Triplication of the Glycine Decarboxylase Gene. Biol Psychiatry 86, 523-535 (2019).
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Baker, K. et al. SYT1-associated neurodevelopmental disorder: a case series. Brain 141, 2576-2591 (2018).
Paketci, C. et al. Successful treatment of intractable epilepsy with ketogenic diet therapy in twins with ALG3-CDG. Brain Dev 42, 539-545 (2020).
Paketci, C. et al. Successful treatment of intractable epilepsy with ketogenic diet therapy in twins with ALG3-CDG. Brain Dev 42, 539-545 (2020).
Collins, R. L. et al. A structural variation reference for medical and population genetics. Nature 581, 444-451 (2020).
Dashnow, H. et al. STRetch: detecting and discovering pathogenic short tandem repeat expansions. Genome Biol 19, 121 (2018).
Zweier, M. et al. Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures. Eur J Hum Genet 27, 747-759 (2019).
Lim, Y. H., Odell, I. D., Ko, C. J. & Choate, K. A. Somatic p.T771R KDR (VEGFR2) Mutation Arising in a Sporadic Angioma During Ramucirumab Therapy. JAMA Dermatol 151, 1240-3 (2015).
Daly, A. F. et al. Somatic mosaicism underlies X-linked acrogigantism syndrome in sporadic male subjects. Endocr Relat Cancer 23, 221-33 (2016).
Levinsohn, J. L. et al. Somatic HRAS p.G12S mutation causes woolly hair and epidermal nevi. J Invest Dermatol 134, 1149-1152 (2014).
Scholl, U. I. et al. Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism. Nat Genet 45, 1050-4 (2013).
Shaw, N. D. et al. SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. Nat Genet 49, 238-248 (2017).
Wheway, G. et al. An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes. Nat Cell Biol 17, 1074-1087 (2015).
Wheway, G. et al. An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes. Nat Cell Biol 17, 1074-1087 (2015).
Topf, A. et al. Severe neurodevelopmental disease caused by a homozygous TLK2 variant. Eur J Hum Genet 28, 383-387 (2020).
Migliavacca, M. P. et al. Sclerocornea in a patient with van den Ende-Gupta syndrome homozygous for a SCARF2 microdeletion. Am J Med Genet A 164A, 1170-4 (2014).
Onodi, F. et al. SARS-CoV-2 induces human plasmacytoid predendritic cell diversification via UNC93B and IRAK4. J Exp Med 218, (2021).
Onodi, F. et al. SARS-CoV-2 induces human plasmacytoid pre-dendritic cell diversification via UNC93B and IRAK4. bioRxiv (2021). doi:10.1101/2020.07.10.197343
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Pehlivan, D. et al. The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy. Genet Med 18, 443-51 (2016).
Orange, D. E. et al. RNA Identification of PRIME Cells Predicting Rheumatoid Arthritis Flares. N Engl J Med 383, 218-228 (2020).
Yakoreva, M. et al. A retrospective analysis of the prevalence of imprinting disorders in Estonia from 1998 to 2016. Eur J Hum Genet 27, 1649-1658 (2019).
Yakoreva, M. et al. A retrospective analysis of the prevalence of imprinting disorders in Estonia from 1998 to 2016. Eur J Hum Genet 27, 1649-1658 (2019).
Bayram, Y. et al. REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis. Am J Hum Genet 101, 149-156 (2017).
Yaramis, A. et al. -related autosomal recessive encephalopathy in 2 Turkish children. Neurol Genet 6, e392 (2020).
Aldinger, K. A. et al. Redefining the Etiologic Landscape of Cerebellar Malformations. Am J Hum Genet 105, 606-615 (2019).
Bryen, S. J. et al. Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy. Hum Mutat 41, 403-411 (2020).
Cheung, Y. Him et al. A recurrent PDGFRB mutation causes familial infantile myofibromatosis. Am J Hum Genet 92, 996-1000 (2013).
Lalani, S. R. et al. Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations. Am J Hum Genet 98, 347-57 (2016).
Gunning, A. C. et al. Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism. Am J Hum Genet 106, 272-279 (2020).

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