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. Clinical exome sequencing in neurogenetic and neuropsychiatric disorders. Issue 1 (6th August 2015) Authors: Fogel, Brent L.; Lee, Hane; Strom, Samuel P.; Deignan, Joshua L.; Nelson, Stanley F. Other Names: Geschwind Daniel H. guestEditor. Journal: Annals of the New York Academy of Sciences Issue: Volume 1366:Issue 1(2016) Page Start: 49 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Congenital myasthenic syndrome caused by a frameshift insertion mutation in GFPT1. (August 2020) Authors: Szelinger, Szabolcs; Krate, Jonida; Ramsey, Keri; Strom, Samuel P.; Shieh, Perry B.; Lee, Hane; Belnap, Newell; Balak, Chris; Siniard, Ashley L.; Russell, Megan; Richholt, Ryan; Both, Matt De; Claasen, Ana M.; Schrauwen, Isabelle; Nelson, Stanley F.; Huentelman, Matthew J.; Craig, David W.; Yang,... Journal: Neurology Issue: Volume 6:Number 4(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Coupling clinical exome sequencing with functional characterization studies to diagnose a patient with familial Mediterranean fever and MED13L haploinsufficiency syndromes. Issue 6 (18th April 2017) Authors: Mullegama, Sureni V.; Jensik, Phillip; Li, Chen; Dorrani, Naghmeh; Kantarci, Sibel; Blumberg, Bruce; Grody, Wayne W.; Strom, Samuel P. Journal: Clinical case reports Issue: Volume 5:Issue 6(2017) Page Start: 833 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. De novo loss‐of‐function variants in STAG2 are associated with developmental delay, microcephaly, and congenital anomalies. Issue 5 (11th March 2017) Authors: Mullegama, Sureni V.; Klein, Steven D.; Mulatinho, Milene V.; Senaratne, Tharanga Niroshini; Singh, Kathryn; Nguyen, Dzung C.; Gallant, Natalie M.; Strom, Samuel P.; Ghahremani, Shahnaz; Rao, Nagesh P.; Martinez‐Agosto, Julian A. Journal: American journal of medical genetics Issue: Volume 173:Issue 5(2017) Page Start: 1319 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Geleophysic dysplasia: 48 year clinical update with emphasis on cardiac care. Issue 11 (8th September 2018) Authors: Legare, Janet M.; Modaff, Peggy; Strom, Samuel P.; Pauli, Richard M.; Bartlett, Heather L. Journal: American journal of medical genetics Issue: Volume 176:Issue 11(2018) Page Start: 2237 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Next‐generation sequencing and analysis of consecutive patients referred for connective tissue disorders. Issue 10 (29th July 2022) Authors: Steinle, Jacob; Hossain, Waheeda A.; Veatch, Olivia J.; Strom, Samuel P.; Butler, Merlin G. Journal: American journal of medical genetics Issue: Volume 188:Issue 10(2022) Page Start: 3016 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Novel association of familial testicular germ cell tumor and autosomal dominant polycystic kidney disease with PKD1 mutation. Issue 1 (31st August 2016) Authors: Truscott, Laurel; Gell, Joanna; Chang, Vivian Y.; Lee, Hane; Strom, Samuel P.; Pillai, Rex; Sisk, Anthony; Martinez‐Agosto, Julian A.; Anderson, Martin; Federman, Noah Journal: Pediatric blood & cancer Issue: Volume 64:Issue 1(2017) Page Start: 100 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗