1. 4q12–4q21.21 deletion genotype–phenotype correlation and the absence of piebaldism in presence of KIT haploinsufficiency. (29th October 2014) Authors: Hemati, Parisa; du Souich, Christèle; Boerkoel, Cornelius F. Journal: American journal of medical genetics Issue: Volume 167:Number 1(2015:Jan.) Page Start: 231 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Loss‐of‐function variants in NFIA provide further support that NFIA is a critical gene in 1p32‐p31 deletion syndrome: A four patient series. Issue 12 (22nd September 2017) Authors: Revah‐Politi, Anya; Ganapathi, Mythily; Bier, Louise; Cho, Megan T.; Goldstein, David B.; Hemati, Parisa; Iglesias, Alejandro; Juusola, Jane; Pappas, John; Petrovski, Slavé; Wilson, Ashley L.; Aggarwal, Vimla S.; Anyane‐Yeboa, Kwame Journal: American journal of medical genetics Issue: Volume 173:Issue 12(2017) Page Start: 3158 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature. Issue 11 (8th September 2018) Authors: Hemati, Parisa; Revah‐Politi, Anya; Bassan, Haim; Petrovski, Slavé; Bilancia, Colleen G.; Ramsey, Keri; Griffin, Nicole G.; Bier, Louise; Cho, Megan T.; Rosello, Monica; Lynch, Sally Ann; Colombo, Sophie; Weber, Astrid; Haug, Marte; Heinzen, Erin L.; Sands, Tristan T.; Narayanan, Vinodh; Primiano... Journal: American journal of medical genetics Issue: Volume 176:Issue 11(2018) Page Start: 2259 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature. Issue 11 (8th September 2018) Authors: Hemati, Parisa; Revah‐Politi, Anya; Bassan, Haim; Petrovski, Slavé; Bilancia, Colleen G.; Ramsey, Keri; Griffin, Nicole G.; Bier, Louise; Cho, Megan T.; Rosello, Monica; Lynch, Sally Ann; Colombo, Sophie; Weber, Astrid; Haug, Marte; Heinzen, Erin L.; Sands, Tristan T.; Narayanan, Vinodh; Primiano... Journal: American journal of medical genetics Issue: Volume 176:Issue 11(2018) Page Start: 2259 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗