1. Acute Intermittent Porphyria: Predicted Pathogenicity of HMBS Variants Indicates Extremely Low Penetrance of the Autosomal Dominant Disease. Issue 11 (5th September 2016) Authors: Chen, Brenden; Solis‐Villa, Constanza; Hakenberg, Jörg; Qiao, Wanqiong; Srinivasan, Ramakrishnan R.; Yasuda, Makiko; Balwani, Manisha; Doheny, Dana; Peter, Inga; Chen, Rong; Desnick, Robert J. Journal: Human mutation Issue: Volume 37:Issue 11(2016) Page Start: 1215 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Fabry Disease: prevalence of affected males and heterozygotes with pathogenic GLA mutations identified by screening renal, cardiac and stroke clinics, 1995–2017. Issue 4 (12th January 2018) Authors: Doheny, Dana; Srinivasan, Ram; Pagant, Silvere; Chen, Brenden; Yasuda, Makiko; Desnick, Robert J Journal: Journal of medical genetics Issue: Volume 55:Issue 4(2018) Page Start: 261 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Homozygous hydroxymethylbilane synthase knock-in mice provide pathogenic insights into the severe neurological impairments present in human homozygous dominant acute intermittent porphyria. (7th January 2019) Authors: Yasuda, Makiko; Gan, Lin; Chen, Brenden; Yu, Chunli; Zhang, Jinglan; Gama-Sosa, Miguel A; Pollak, Daniela D; Berger, Stefanie; Phillips, John D; Edelmann, Winfried; Desnick, Robert J Journal: Human molecular genetics Issue: Volume 28:Number 11(2019) Page Start: 1755 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Identification and characterization of 40 novel hydroxymethylbilane synthase mutations that cause acute intermittent porphyria. Issue 1 (11th February 2019) Authors: Chen, Brenden; Solis‐Villa, Constanza; Erwin, Angelika L.; Balwani, Manisha; Nazarenko, Irina; Phillips, John D.; Desnick, Robert J.; Yasuda, Makiko Journal: Journal of inherited metabolic disease Issue: Volume 42:Issue 1(2019) Page Start: 186 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗