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. BAFopathies' DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin–Siris and Nicolaides–Baraitser syndromes. Issue 1 (December 2018) Authors: Aref-Eshghi, Erfan; Bend, Eric; Hood, Rebecca; Schenkel, Laila; Carere, Deanna; Chakrabarti, Rana; Nagamani, Sandesh; Cheung, Sau; Campeau, Philippe; Prasad, Chitra; Siu, Victoria; Brady, Lauren; Tarnopolsky, Mark; Callen, David; Innes, A.; White, Susan; Meschino, Wendy; Shuen, Andrew; Paré, Guil... Journal: Nature communications Issue: Volume 9:Issue 1(2018) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Clinical delineation and natural history of the PIK3CA‐related overgrowth spectrum. Issue 7 (29th April 2014) Authors: Keppler‐Noreuil, Kim M.; Sapp, Julie C.; Lindhurst, Marjorie J.; Parker, Victoria E.R.; Blumhorst, Cathy; Darling, Thomas; Tosi, Laura L.; Huson, Susan M.; Whitehouse, Richard W.; Jakkula, Eveliina; Grant, Ian; Balasubramanian, Meena; Chandler, Kate E.; Fraser, Jamie L.; Gucev, Zoran; Crow, Yanic... Journal: American journal of medical genetics Issue: Volume 164:Issue 7(2014.) Page Start: 1713 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Diagnostic criteria for constitutional mismatch repair deficiency (CMMRD): recommendations from the international consensus working group. Issue 4 (23rd February 2021) Authors: Aronson, Melyssa; Colas, Chrystelle; Shuen, Andrew; Hampel, Heather; Foulkes, William D; Baris Feldman, Hagit; Goldberg, Yael; Muleris, Martine; Wolfe Schneider, Kami; McGee, Rose B; Jasperson, Kory; Rangaswami, Arun; Brugieres, Laurence; Tabori, Uri Journal: Journal of medical genetics Issue: Volume 59:Issue 4(2022) Page Start: 318 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗