1. An infant with MLH3 variants, FOXG1‐duplication and multiple, benign cranial and spinal tumors: A clinical exome sequencing study. Issue 2 (6th November 2015) Authors: Kansal, Rina; Li, Xinmin; Shen, Joseph; Samuel, David; Laningham, Fred; Lee, Hane; Panigrahi, Gagan B.; Shuen, Andrew; Kantarci, Sibel; Dorrani, Naghmeh; Reiss, Jean; Shintaku, Peter; Deignan, Joshua L.; Strom, Samuel P.; Pearson, Christopher E.; Vilain, Eric; Grody, Wayne W. Journal: Genes, chromosomes & cancer Issue: Volume 55:Issue 2(2016:Feb.) Page Start: 131 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size. Issue 5 (12th November 2009) Authors: Shinawi, Marwan; Liu, Pengfei; Kang, Sung-Hae L; Shen, Joseph; Belmont, John W; Scott, Daryl A; Probst, Frank J; Craigen, William J; Graham, Brett H; Pursley, Amber; Clark, Gary; Lee, Jennifer; Proud, Monica; Stocco, Amber; Rodriguez, Diana L; Kozel, Beth A; Sparagana, Steven; Roeder, Elizabeth R... Journal: Journal of medical genetics Issue: Volume 47:Issue 5(2010) Page Start: 332 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Scoliosis and vertebral anomalies: Additional abnormal phenotypes associated with chromosome 16p11.2 rearrangement. Issue 5 (23rd January 2014) Authors: Al‐Kateb, Hussam; Khanna, Geetika; Filges, Isabel; Hauser, Natalie; Grange, Dorothy K.; Shen, Joseph; Smyser, Christopher D.; Kulkarni, Shashikant; Shinawi, Marwan Journal: American journal of medical genetics Issue: Volume 164:Issue 5(2014.) Page Start: 1118 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗