1. BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder. Issue 5 (7th February 2020) Authors: Scott, Tiana M.; Guo, Hui; Eichler, Evan E.; Rosenfeld, Jill A.; Pang, Kaifang; Liu, Zhandong; Lalani, Seema; Bi, Weimin; Yang, Yaping; Bacino, Carlos A.; Streff, Haley; Lewis, Andrea M.; Koenig, Mary K.; Thiffault, Isabelle; Bellomo, Allison; Everman, David B.; Jones, Julie R.; Stevenson, Roger ... Journal: Human mutation Issue: Volume 41:Issue 5(2020) Page Start: 921 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Biallelic variants in COX4I1 associated with a novel phenotype resembling Leigh syndrome with developmental regression, intellectual disability, and seizures. Issue 10 (10th July 2019) Authors: Pillai, Nishitha R.; AlDhaheri, Noura S.; Ghosh, Rajarshi; Lim, Jaehyung; Streff, Haley; Nayak, Anuranjita; Graham, Brett H.; Hanchard, Neil A.; Elsea, Sarah H.; Scaglia, Fernando Journal: American journal of medical genetics Issue: Volume 179:Issue 10(2019) Page Start: 2138 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Cancer Incidence in First- and Second-Degree Relatives of BRCA1 and BRCA2 Mutation Carriers. (15th June 2016) Authors: Streff, Haley; Profato, Jessica; Ye, Yuanqing; Nebgen, Denise; Peterson, Susan K.; Singletary, Claire; Arun, Banu K.; Litton, Jennifer K. Journal: Oncologist Issue: Volume 21:Number 7(2016) Page Start: 869 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Cancer Incidence in First‐ and Second‐Degree Relatives of BRCA1 and BRCA2 Mutation Carriers. (15th June 2016) Authors: Streff, Haley; Profato, Jessica; Ye, Yuanqing; Nebgen, Denise; Peterson, Susan K.; Singletary, Claire; Arun, Banu K.; Litton, Jennifer K. Journal: Oncologist Issue: Volume 21:Number 7(2016) Page Start: 869 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1. Issue 1 (26th October 2019) Authors: Koczkowska, Magdalena; Callens, Tom; Chen, Yunjia; Gomes, Alicia; Hicks, Alesha D.; Sharp, Angela; Johns, Eric; Uhas, Kim Armfield; Armstrong, Linlea; Bosanko, Katherine Armstrong; Babovic‐Vuksanovic, Dusica; Baker, Laura; Basel, Donald G.; Bengala, Mario; Bennett, James T.; Chambers, Chelsea; Cl... Journal: Human mutation Issue: Volume 41:Issue 1(2020) Page Start: 299 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. CRIPT exonic deletion and a novel missense mutation in a female with short stature, dysmorphic features, microcephaly, and pigmentary abnormalities. Issue 8 (2nd June 2016) Authors: Leduc, Magalie S.; Niu, Zhiyv; Bi, Weimin; Zhu, Wenmiao; Miloslavskaya, Irene; Chiang, Theodore; Streff, Haley; Seavitt, John R.; Murray, Stephen A.; Eng, Christine; Chan, Audrey; Yang, Yaping; Lalani, Seema R. Journal: American journal of medical genetics Issue: Volume 170:Issue 8(2016) Page Start: 2206 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Kenny-Caffey Syndrome Type 2: A Unique Presentation and Craniofacial Analysis. Issue 5 (July 2020) Authors: Turner, Acara E.; Abu-Ghname, Amjed; Davis, Matthew J.; Shih, Linden; Volk, Angela S.; Streff, Haley; Buchanan, Edward P. Journal: Journal of craniofacial surgery Issue: Volume 31:Issue 5(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Mutations of the histone linker H1–4 in neurodevelopmental disorders and functional characterization of neurons expressing C-terminus frameshift mutant H1.4. Issue 9 (12th November 2021) Authors: Tremblay, Martine W; Green, Matthew V; Goldstein, Benjamin M; Aldridge, Andrew I; Rosenfeld, Jill A; Streff, Haley; Tan, Wendy D; Craigen, William; Bekheirnia, Nasim; Al Tala, Saeed; West, Anne E; Jiang, Yong-hui Journal: Human molecular genetics Issue: Volume 31:Issue 9(2022) Page Start: 1430 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Novel phenotype of aortic root dilatation and late‐onset metabolic decompensation in a patient with TMEM70 deficiency. Issue 5 (7th February 2023) Authors: Mackay, Laura; Gijavanekar, Charul; Streff, Haley; Price, Jack F.; Elsea, Sarah H.; Scaglia, Fernando Journal: American journal of medical genetics Issue: Volume 191:Issue 5(2023) Page Start: 1366 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. PPP3CA truncating variants clustered in the regulatory domain cause early‐onset refractory epilepsy. Issue 2 (1st June 2021) Authors: Panneerselvam, Sugi; Wang, Julia; Zhu, Wenmiao; Dai, Hongzheng; Pappas, John G.; Rabin, Rachel; Low, Karen J.; Rosenfeld, Jill A.; Emrick, Lisa; Xiao, Rui; Xia, Fan; Yang, Yaping; Eng, Christine M.; Anderson, Anne; Chau, Vann; Soler‐Alfonso, Claudia; Streff, Haley; Lalani, Seema R.; Mercimek‐Andr... Journal: Clinical genetics Issue: Volume 100:Issue 2(2021) Page Start: 227 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗