Selected Publications

Li D: Expanded Genetic Landscape in Vascular Malformations. 43th Annual David W. Smith Workshop on Malformations and Morphogenesis August 2022.

Li D: Pathogenic variants in U2AF2 and PRPF19 encoding essential spliceosomal subunits cause neurodevelopmental disorders with autistic features. 55th Annual meeting of the European Society of Human Genetics (ESHG) June 2022.

Li D: Expanded Genetic Landscape in Complex Vascular Anomalies. International Society for the Study of Vascular Anomalies (ISSVA) Congress 2022 May 2022.

2. Li D#, Downes, H, Hou, C, Hakonarson, H, Zackai, EH, Schrier Vergano, SA, and Bhoj, EJ: Further supporting SMARCC2-related neurodevelopmental disorder through exome analysis and reanalysis in two patients. Am J Med Genet A 2022.

Qi C, Feng I, Costa AR, Pinto-Costa R, Neil JE, Caluseriu O, Li D, Ganetzky RD, Brasch-Andersen C, Fagerberg C, Hansen LK, Bupp C, Muraresku CC, Ruan X, Kang B, Hu K, Zhong R, Brites P, Bhoj EJ, Hill RS, Falk MJ, Hakonarson H, Kahle KT, Sousa MM, Walsh CA, Zhang X: Variants in ADD1 cause intellectual disability, corpus callosum dysgenesis, and ventriculomegaly in humans. Genet Med 2022.

Guo R, Mentch FD, Li D, Will EE, Ahrens-Nicklas RC, Bhoj EJ: Contribution of Mendelian Disorders in a Population-Based Pediatric Neurodegeneration Cohort. J Pediatr 2022.

Li D#, Strong A, Hou C, Downes H, Pritchard AB, Mazzeo P, Zackai EH, Conlin LK, Hakonarson H: Interstitial deletion 4p15.32p16.1 and complex chromoplexy in a female proband with severe neurodevelopmental delay, growth failure and dysmorphism. Mol Cytogenet 2022.

Lubin E, Bryant L, Aicher J, Li D, Bhoj E: Analysis of histone variant constraint and tissue expression suggests five potential novel human disease genes: H2AFY2, H2AFZ, H2AFY, H2AFV, H1F0. Hum Genet 2022.

Liu M, Smith CL, Biko DM, Li D, Pinto E, O'Connor N, Skraban C, Zackai EH, Hakonarson H, Dori Y, Sheppard SE: Genetics etiologies and genotype phenotype correlations in a cohort of individuals with central conducting lymphatic anomaly. Eur J Hum Genet 2022.

Li D#, March ME, Wang T, Merengwa V, Sertori Finoti L, Schrier Vergano SA, Hakonarson H, Bhoj EJ: Exome and RNA-Seq analyses of an incomplete penetrance variant in USP9X in female-specific syndromic intellectual disability. Am J Med Genet A 2022.