Publications

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2019
Yang, N. et al. TBX6 compound inheritance leads to congenital vertebral malformations in humans and mice. Hum Mol Genet 28, 539-547 (2019).
Carapito, R. et al. ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder. Am J Hum Genet 104, 319-330 (2019).
2020
Villar-Quiles, R. N. et al. ASC-1 Is a Cell Cycle Regulator Associated with Severe and Mild Forms of Myopathy. Ann Neurol 87, 217-232 (2020).
Marafi, D. et al. Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy. Ann Clin Transl Neurol 7, 610-627 (2020).
Le, T. - L. et al. Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling. Am J Hum Genet 106, 779-792 (2020).
Vece, T. J. et al. Cytoplasmic "ciliary inclusions" in isolation are not sufficient for the diagnosis of primary ciliary dyskinesia. Pediatr Pulmonol 55, 130-135 (2020).
Mao, D. et al. De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation. Am J Hum Genet 106, 570-583 (2020).
Wojcik, M. H. & Agrawal, P. B. Deciphering congenital anomalies for the next generation. Cold Spring Harb Mol Case Stud 6, (2020).
Van Bergen, N. J. et al. Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability. Brain 143, 112-130 (2020).
Beck, D. B. et al. Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency. Am J Hum Genet 106, 234-245 (2020).
Sewda, A. et al. Gene-based analyses of the maternal genome implicate maternal effect genes as risk factors for conotruncal heart defects. PLoS One 15, e0234357 (2020).
Rochtus, A. et al. Genetic diagnoses in epilepsy: The impact of dynamic exome analysis in a pediatric cohort. Epilepsia 61, 249-258 (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).
Zhang, Q. et al. Inborn errors of type I IFN immunity in patients with life-threatening COVID-19. Science 370, (2020).
Gulati, A., Dahl, N. & Tufro, A. Inherited glomerular diseases in the gilded age of genomic advancements. Pediatr Nephrol 35, 959-968 (2020).
C Y Mak, C. et al. MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis. Brain 143, 55-68 (2020).
Issa, M. Y. et al. Molecular diagnosis in recessive pediatric neurogenetic disease can help reduce disease recurrence in families. BMC Med Genomics 13, 68 (2020).
Zech, M. et al. Monogenic variants in dystonia: an exome-wide sequencing study. Lancet Neurol 19, 908-918 (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).
Abiad, J. M. El et al. Natural history of Ollier disease and Maffucci syndrome: Patient survey and review of clinical literature. Am J Med Genet A 182, 1093-1103 (2020).
Yin, J. et al. Next Generation Sequencing of 134 Children with Autism Spectrum Disorder and Regression. Genes (Basel) 11, (2020).
Tsai, M. - H. et al. Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly. Neuron 106, 237-245.e8 (2020).
Batzir, N. Assia et al. Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome). Am J Med Genet A 182, 38-52 (2020).
Shao, D. D. et al. Polymicrogyria is Associated With Pathogenic Variants in PTEN. Ann Neurol 88, 1153-1164 (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).
Whitman, M. C. et al. Recurrent Rare Copy Number Variants Increase Risk for Esotropia. Invest Ophthalmol Vis Sci 61, 22 (2020).
Topf, A. et al. Severe neurodevelopmental disease caused by a homozygous TLK2 variant. Eur J Hum Genet 28, 383-387 (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).
2021
Meng, L. et al. MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia. Ann Neurol 89, 828-833 (2021).
Oláhová, M. et al. POLRMT mutations impair mitochondrial transcription causing neurological disease. Nat Commun 12, 1135 (2021).

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