Maria X. Sosa

Molecular Genetic Anatomy and Risk Profile of Hirschsprung’s Disease

Joseph M. Tilghman, Albee Y. Ling, Tychele N. Turner et al. · New England Journal of Medicine · 2019 · 185 citations · Full text

Loss of δ-catenin function in severe autism

Tychele N. Turner, Kamal Sharma, Edwin C. Oh et al. · Nature · 2015 · 162 citations · Full text

Neuroscience, Severe Autism, Syndromic Autism +1

Functional Loss of Semaphorin 3C and/or Semaphorin 3D and Their Epistatic Interaction with Ret Are Critical to Hirschsprung Disease Liability

Qian Jiang, Stacey Arnold, Tiffany A. Heanue et al. · The American Journal of Human Genetics · 2015 · 147 citations · Full text

Molecular Biology, Functional Loss, Pathology +2

Next-Generation Sequencing of Human Mitochondrial Reference Genomes Uncovers High Heteroplasmy Frequency

Maria X. Sosa, I.K. Ashok Sivakumar, Samantha Maragh et al. · PLoS Computational Biology · 2012 · 73 citations · Full text

Genetics, Molecular Genetics, Genomics +18

Population variation in total genetic risk of Hirschsprung disease from common RET, SEMA3 and NRG1 susceptibility polymorphisms

Ashish Kapoor, Qian Jiang, Sumantra Chatterjee et al. · Human Molecular Genetics · 2015 · 73 citations · Full text

Genetics, Genetic Epidemiology, Human Polymorphism +22