Publications

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2020
Zech, M. et al. Monogenic variants in dystonia: an exome-wide sequencing study. Lancet Neurol 19, 908-918 (2020).
Zech, M. et al. Monogenic variants in dystonia: an exome-wide sequencing study. Lancet Neurol 19, 908-918 (2020).
Bootpetch, T. C. et al. Multi-omic studies on missense PLG variants in families with otitis media. Sci Rep 10, 15035 (2020).
Bootpetch, T. C. et al. Multi-omic studies on missense PLG variants in families with otitis media. Sci Rep 10, 15035 (2020).
Karczewski, K. J. et al. The mutational constraint spectrum quantified from variation in 141,456 humans. Nature 581, 434-443 (2020).
Jin, S. Chih et al. Mutations disrupting neuritogenesis genes confer risk for cerebral palsy. Nat Genet 52, 1046-1056 (2020).
Connaughton, D. M. et al. Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations. Am J Hum Genet 107, 727-742 (2020).
Zilmer, M. et al. Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function. Brain 143, 1114-1126 (2020).
Zhang, C. et al. Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome. Am J Med Genet A (2020). doi:10.1002/ajmg.a.61908
Gao, E. et al. Organic Solute Transporter Alpha Deficiency: A Disorder With Cholestasis, Liver Fibrosis, and Congenital Diarrhea. Hepatology 71, 1879-1882 (2020).
Frank, D. N. et al. Otitis media susceptibility and shifts in the head and neck microbiome due to variants. J Med Genet (2020). doi:10.1136/jmedgenet-2020-106844
Frank, D. N. et al. Otitis media susceptibility and shifts in the head and neck microbiome due to variants. J Med Genet (2020). doi:10.1136/jmedgenet-2020-106844
Castilla-Vallmanya, L. et al. Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7. Genet Med 22, 1215-1226 (2020).
Fahed, A. C. et al. Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions. Nat Commun 11, 3635 (2020).
Ng, B. G. et al. Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions. J Inherit Metab Dis 43, 1333-1348 (2020).
Beam, K., Wojcik, M. H., Agrawal, P. B., Smithers, C. & Estroff, J. Prenatal Diagnosis of a Ventral Abdominal Wall Defect. Neoreviews 21, e286-e292 (2020).
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).
Ghosh, S. Georges et al. Recurrent homozygous damaging mutation in , encoding a protein disulfide isomerase, in four families with microlissencephaly. J Med Genet 57, 274-282 (2020).
Whitman, M. C. et al. Recurrent Rare Copy Number Variants Increase Risk for Esotropia. Invest Ophthalmol Vis Sci 61, 22 (2020).
Whitman, M. C. et al. Recurrent Rare Copy Number Variants Increase Risk for Esotropia. Invest Ophthalmol Vis Sci 61, 22 (2020).
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).
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).
Yaramis, A. et al. -related autosomal recessive encephalopathy in 2 Turkish children. Neurol Genet 6, e392 (2020).
Topf, A. et al. Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness. Genet Med 22, 1478-1488 (2020).
Topf, A. et al. Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness. Genet Med 22, 1478-1488 (2020).
Chen, X. et al. Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data. Genet Med 22, 945-953 (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).
Edwards, J. J. et al. Systems Analysis Implicates WAVE2 Complex in the Pathogenesis of Developmental Left-Sided Obstructive Heart Defects. JACC Basic Transl Sci 5, 376-386 (2020).
Pirruccello, J. P. et al. Titin Truncating Variants in Adults Without Known Congestive Heart Failure. J Am Coll Cardiol 75, 1239-1241 (2020).
Ferraro, N. M. et al. Transcriptomic signatures across human tissues identify functional rare genetic variation. Science 369, (2020).
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).
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).
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 strongly regulate SARS-CoV-2 related gene expression in the airway epithelium. bioRxiv (2020). doi:10.1101/2020.04.09.034454
Yi, J. - S., Perla, S., Enyenihi, L. & Bennett, A. M. Tyrosyl phosphorylation of PZR promotes hypertrophic cardiomyopathy in PTPN11-associated Noonan syndrome with multiple lentigines. JCI Insight 5, (2020).
Marquez, J. et al. variants are associated with multiple congenital anomalies including ciliopathy phenotypes. J Med Genet (2020). doi:10.1136/jmedgenet-2019-106805
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).
2021
Dyment, D. A. et al. Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome. Am J Med Genet A 185, 119-133 (2021).
Emdin, C. A. et al. Association of Genetic Variation With Cirrhosis: A Multi-Trait Genome-Wide Association and Gene-Environment Interaction Study. Gastroenterology 160, 1620-1633.e13 (2021).
Bastard, P. et al. Auto-antibodies to type I IFNs can underlie adverse reactions to yellow fever live attenuated vaccine. J Exp Med 218, (2021).
Güngör, S. et al. Autosomal recessive variants in alter the γ-tubulin ring complex leading to neurodevelopmental disease. iScience 24, 101948 (2021).
Ernst, M. E. et al. CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity. Epilepsia (2021). doi:10.1111/epi.16931
Ernst, M. E. et al. CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity. Epilepsia (2021). doi:10.1111/epi.16931
Diverse genetic causes of polymicrogyria with epilepsy. Epilepsia 62, 973-983 (2021).
Rodríguez-Palmero, A. et al. DLG4-related synaptopathy: a new rare brain disorder. Genet Med 23, 888-899 (2021).
Rodríguez-Palmero, A. et al. DLG4-related synaptopathy: a new rare brain disorder. Genet Med 23, 888-899 (2021).
White, S. M. et al. A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome. Am J Hum Genet 108, 749-756 (2021).
White, S. M. et al. A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome. Am J Hum Genet 108, 749-756 (2021).
Fomchenko, E. I. et al. Dual activating FGFR1 mutations in pediatric pilomyxoid astrocytoma. Mol Genet Genomic Med 9, e1597 (2021).
D'Gama, A. M. et al. Exome sequencing identifies novel missense and deletion variants in RTN4IP1 associated with optic atrophy, global developmental delay, epilepsy, ataxia, and choreoathetosis. Am J Med Genet A 185, 203-207 (2021).

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