1. Biliary Tract Disease in Girls and Young Women With Rett Syndrome. Issue 6 (June 2019) Authors: Motil, Kathleen J.; Lane, Jane B.; Barrish, Judy O.; Annese, Fran; Geerts, Suzanne; McNair, Lauren; Skinner, Steven A.; Neul, Jeffrey L.; Glaze, Daniel G.; Percy, Alan K. Journal: Journal of pediatric gastroenterology and nutrition Issue: Volume 68:Issue 6(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Functional analysis of a novel mutation in the TIMM8A gene that causes deafness‐dystonia‐optic neuronopathy syndrome. Issue 3 (5th January 2020) Authors: Neighbors, Addison; Moss, Tonya; Holloway, Lynda; Yu, Seok‐Ho; Annese, Fran; Skinner, Steve; Saneto, Russell; Steet, Richard Journal: Molecular genetics & genomic medicine Issue: Volume 8:Issue 3(2020) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Mosaicism of common pathogenic MECP2 variants identified in two males with a clinical diagnosis of Rett syndrome. Issue 10 (4th August 2022) Authors: Cooley Coleman, Jessica A.; Fee, Timothy; Bend, Renee; Louie, Raymond; Annese, Fran; Stallworth, Jennifer; Worthington, Jessica; Buchanan, Caroline Black; Everman, David B.; Skinner, Steven; Friez, Michael J.; Jones, Julie R.; Spellicy, Catherine J. Journal: American journal of medical genetics Issue: Volume 188:Issue 10(2022) Page Start: 2988 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome. Issue 8 (19th May 2016) Authors: Knaus, Alexej; Awaya, Tomonari; Helbig, Ingo; Afawi, Zaid; Pendziwiat, Manuela; Abu‐Rachma, Jubran; Thompson, Miles D.; Cole, David E.; Skinner, Steve; Annese, Fran; Canham, Natalie; Schweiger, Michal R.; Robinson, Peter N.; Mundlos, Stefan; Kinoshita, Taroh; Munnich, Arnold; Murakami, Yoshiko; H... Journal: Human mutation Issue: Volume 37:Issue 8(2016) Page Start: 737 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗