1. Characterization of a recurrent missense mutation in the forkhead DNA-binding domain of FOXP1. Issue 1 (December 2018) Authors: Johnson, Tyler; Mechels, Keegan; Anderson, Ruth; Cain, Jacob; Sturdevant, David; Braddock, Stephen; Pinz, Hailey; Wilson, Mark; Landsverk, Megan; Roux, Kyle; Weimer, Jill Journal: Scientific reports Issue: Volume 8:Issue 1(2018) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Congenital Diarrhea From DGAT1 Mutation Leading to Electrolyte Derangements, Protein-losing Enteropathy, and Rickets. Issue 3 (March 2018) Authors: Ratchford, Thomas L.; Kirby, Amelia J.; Pinz, Hailey; Patel, Dhiren R. Journal: Journal of pediatric gastroenterology and nutrition Issue: Volume 66:Issue 3(2018) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Cover Image, Volume 176A, Number 4, April 2018. Issue 4 (25th March 2018) Authors: Zarate, Yuri A.; Smith‐Hicks, Constance L.; Greene, Carol; Abbott, Mary‐Alice; Siu, Victoria M.; Calhoun, Amy R. U. L.; Pandya, Arti; Li, Chumei; Sellars, Elizabeth A.; Kaylor, Julie; Bosanko, Katherine; Kalsner, Louisa; Basinger, Alice; Slavotinek, Anne M.; Perry, Hazel; Saenz, Margarita; Szybow... Journal: American journal of medical genetics Issue: Volume 176:Issue 4(2018) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. De novo variants in Myelin regulatory factor (MYRF) as candidates of a new syndrome of cardiac and urogenital anomalies. Issue 4 (15th February 2018) Authors: Pinz, Hailey; Pyle, Louise C.; Li, Dong; Izumi, Kosuke; Skraban, Cara; Tarpinian, Jennifer; Braddock, Stephen R.; Telegrafi, Aida; Monaghan, Kristin G.; Zackai, Elaine; Bhoj, Elizabeth J. Journal: American journal of medical genetics Issue: Volume 176:Issue 4(2018) Page Start: 969 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Familial Pediatric Clear Cell Meningioma With Germline SMARCE1 Mutation in the United States. Issue 11 (17th October 2020) Authors: Navalkele, Pournima; Guzman, Miguel; Kirby, Amelia; Pinz, Hailey; Kemp, Joanna Journal: Journal of neuropathology and experimental neurology Issue: Volume 79:Issue 11(2020) Page Start: 1250 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Further delineation of METTL23‐associated intellectual disability. Issue 4 (18th February 2020) Authors: Almannai, Mohammed; Obaid, Osama; Faqeih, Eissa; Alasmari, Ali; Samman, Manar M.; Pinz, Hailey; Braddock, Stephen R.; Alkuraya, Fowzan S. Journal: American journal of medical genetics Issue: Volume 182:Issue 4(2020) Page Start: 785 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Hirschsprung Disease in an Infant with L1 syndrome: Report of a New Case and a novel L1CAM variant. Issue 3 (4th February 2021) Authors: Gauntner, Timothy D.; Karumuri, Manasa; Guzman, Miguel A.; Starnes, Sara E.; Besmer, Sherri; Pinz, Hailey; Braddock, Stephen R.; Andreone, Teresa L. Journal: Clinical case reports Issue: Volume 9:Issue 3(2021) Page Start: 1518 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Natural history and genotype‐phenotype correlations in 72 individuals with SATB2‐associated syndrome. Issue 4 (13th February 2018) Authors: Zarate, Yuri A.; Smith‐Hicks, Constance L.; Greene, Carol; Abbott, Mary‐Alice; Siu, Victoria M.; Calhoun, Amy R. U. L.; Pandya, Arti; Li, Chumei; Sellars, Elizabeth A.; Kaylor, Julie; Bosanko, Katherine; Kalsner, Louisa; Basinger, Alice; Slavotinek, Anne M.; Perry, Hazel; Saenz, Margarita; Szybow... Journal: American journal of medical genetics Issue: Volume 176:Issue 4(2018) Page Start: 925 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Rare SUZ12 variants commonly cause an overgrowth phenotype. Issue 4 (17th November 2019) Authors: Cyrus, Sharri S.; Cohen, Ana S. A.; Agbahovbe, Ruky; Avela, Kristiina; Yeung, Kit S.; Chung, Brian H. Y.; Luk, Ho‐Ming; Tkachenko, Nataliya; Choufani, Sanaa; Weksberg, Rosanna; Lopez‐Rangel, Elena; Brown, Kathleen; Saenz, Margarita S.; Svihovec, Shayna; McCandless, Shawn E.; Bird, Lynne M.; Garci... Other Names: Burkardt Deepika guestEditor.; Tatton‐Brown Kate guestEditor.; Dobyns William B. guestEditor.; Graham John guestEditor. Journal: American journal of medical genetics Issue: Volume 181:Issue 4(2019) Page Start: 532 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗