1. Bilateral subdural hematomas and retinal hemorrhages mimicking nonaccidental trauma in a patient with D‐2‐hydroxyglutaric aciduria. Issue 1 (20th November 2020) Authors: Perales‐Clemente, Ester; Hewitt, Angela L.; Studinski, April L.; Tillema, Jan‐Mendelt; Laxen, William J.; Oglesbee, Devin; Graff, Arne H.; Rinaldo, Piero; Lanpher, Brendan C. Journal: JIMD reports Issue: Volume 58:Issue 1(2021) Page Start: 21 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Clinical and genetic characterization of AP4B1‐associated SPG47. Issue 2 (28th November 2017) Authors: Ebrahimi‐Fakhari, Darius; Cheng, Chi; Dies, Kira; Diplock, Amelia; Pier, Danielle B.; Ryan, Conor S.; Lanpher, Brendan C.; Hirst, Jennifer; Chung, Wendy K.; Sahin, Mustafa; Rosser, Elisabeth; Darras, Basil; Bennett, James T. Journal: American journal of medical genetics Issue: Volume 176:Issue 2(2018) Page Start: 311 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Expanding the clinical and phenotypic heterogeneity associated with biallelic variants in ACO2. Issue 6 (9th June 2020) Authors: Blackburn, Patrick R.; Schultz, Matthew J.; Lahner, Carrie A.; Li, Dong; Bhoj, Elizabeth; Fisher, Laura J.; Renaud, Deborah L.; Kenney, Amy; Ibrahim, Niema; Hashem, Mais; Zain Seidahmed, Mohammed; Hasadsri, Linda; Schrier Vergano, Samantha A.; Alkuraya, Fowzan S.; Lanpher, Brendan C. Journal: Annals of clinical and translational neurology Issue: Volume 7:Issue 6(2020) Page Start: 1013 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Expanding the phenotypic spectrum in EP300‐related Rubinstein–Taybi syndrome. (25th February 2015) Authors: Solomon, Benjamin D.; Bodian, Dale L.; Khromykh, Alina; Mora, Gabriela Gomez; Lanpher, Brendan C.; Iyer, Ramaswamy K.; Baveja, Rajiv; Vockley, Joseph G.; Niederhuber, John E. Journal: American journal of medical genetics Issue: Volume 167:Number 5(2015:May) Page Start: 1111 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Growth hormone deficiency in a child with branchio‐oto‐renal spectrum disorder: Clinical evidence of EYA1 in pituitary development and a recommendation for pituitary function surveillance. Issue 1 (24th October 2020) Authors: Muthusamy, Karthik; Hanna, Christian; Johnson, Derek R.; Cramer, Carl H.; Tebben, Peter J.; Libi, Sharon E.; Poling, Gayla L.; Lanpher, Brendan C.; Morava, Eva; Schimmenti, Lisa A. Journal: American journal of medical genetics Issue: Volume 185:Issue 1(2021) Page Start: 261 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Important Considerations in the Initial Clinical Evaluation of the Dysmorphic Neonate. (August 2015) Authors: Smpokou, Patroula; Lanpher, Brendan C.; Rosenbaum, Kenneth N. Other Names: Ikuta Linda section editor.; Zukowsky Ksenia section editor. Journal: Advances in neonatal care Issue: Volume 15:Number 4(2015) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Important Considerations in the Initial Clinical Evaluation of the Dysmorphic Neonate. (August 2015) Authors: Smpokou, Patroula; Lanpher, Brendan C.; Rosenbaum, Kenneth N.; Ikuta, Linda; Zukowsky, Ksenia Journal: Advances in neonatal care Issue: Volume 15:Number 4(2015) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Infant male with TARP syndrome: Review of clinical features, prognosis, and commonalities with previously reported patients. Issue 12 (18th November 2018) Authors: Kaeppler, Kathrine E.; Stetson, Raymond C.; Lanpher, Brendan C.; Collura, Christopher A. Journal: American journal of medical genetics Issue: Volume 176:Issue 12(2018) Page Start: 2911 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Multigenerational pedigree with STAR syndrome: A novel FAM58A variant and expansion of the phenotype. Issue 5 (21st March 2017) Authors: Boczek, Nicole J.; Kruisselbrink, Teresa; Cousin, Margot A.; Blackburn, Patrick R.; Klee, Eric W.; Gavrilova, Ralitza H.; Lanpher, Brendan C. Journal: American journal of medical genetics Issue: Volume 173:Issue 5(2017) Page Start: 1328 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study. Issue 8 (27th May 2021) Authors: Bowles, Bradley; Ferrer, Alejandro; Nishimura, Carla J.; Pinto e Vairo, Filippo; Rey, Tristan; Leheup, Bruno; Sullivan, Jennifer; Schoch, Kelly; Stong, Nicholas; Agolini, Emanuele; Cocciadiferro, Dario; Williams, Abigail; Cummings, Alex; Loddo, Sara; Genovese, Silvia; Roadhouse, Chelsea; McWalter... Journal: American journal of medical genetics Issue: Volume 185:Issue 8(2021) Page Start: 2417 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗