1. Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy. (5th October 2017) Authors: Peng, Yanyan; Shinde, Deepali N; Valencia, C Alexander; Mo, Jun-Song; Rosenfeld, Jill; Truitt Cho, Megan; Chamberlin, Adam; Li, Zhuo; Liu, Jie; Gui, Baoheng; Brockhage, Rachel; Basinger, Alice; Alvarez-Leon, Brenda; Heydemann, Peter; Magoulas, Pilar L; Lewis, Andrea M; Scaglia, Fernando; Gril, So... Journal: Human molecular genetics Issue: Volume 26:Number 24(2017:Dec. 15) Page Start: 4937 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Coagulopathy reversal in intracerebral haemorrhage. Issue 1 (20th February 2020) Authors: Sweidan, Alexander Jacob; Singh, Navneet Kaur; Conovaloff, Joseph Luke; Bower, Matthew; Groysman, Leonid I; Shafie, Mohammad; Yu, Wengui Journal: Stroke and vascular neurology Issue: Volume 5:Issue 1(2020) Page Start: 29 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. DNA Variations in Oculocutaneous Albinism: An Updated Mutation List and Current Outstanding Issues in Molecular Diagnostics. Issue 6 (30th April 2013) Authors: Simeonov, Dimitre R.; Wang, Xinjing; Wang, Chen; Sergeev, Yuri; Dolinska, Monika; Bower, Matthew; Fischer, Roxanne; Winer, David; Dubrovsky, Genia; Balog, Joan Z.; Huizing, Marjan; Hart, Rachel; Zein, Wadih M.; Gahl, William A.; Brooks, Brian P.; Adams, David R. Journal: Human mutation Issue: Volume 34:Issue 6(2013:Jun.) Page Start: 827 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Ethical and Professional Challenges Encountered by Laboratory Genetic Counselors. Issue 4 (16th November 2014) Authors: Groepper, Daniel; McCarthy Veach, Patricia; LeRoy, Bonnie S.; Bower, Matthew Journal: Journal of genetic counseling Issue: Volume 24:Issue 4(2015) Page Start: 580 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Identifying novel interruption motifs in spinocerebellar ataxia type 10 expansions. Issue 2 (2nd April 2014) Authors: Liu, Jilin; McFarland, Karen N; Landrian, Ivette; Wu, Samuel S; Bower, Matthew; Hutter, Diane; Bushara, Khalaf; Teive, Hélio A G; Ashizawa, Tetsuo Journal: Neurology and clinical neuroscience Issue: Volume 2:Issue 2(2014:Mar.) Page Start: 38 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. P4‐484: EARLY‐ONSET FRONTOTEMPORAL DEMENTIA IN A PATIENT WITH DUPLICATION OF EXON 15 OF THE MATR3 GENE. (1st July 2019) Authors: Castro, Madelyn; Pook, Kasey Ah; Deyle, David R.; Bower, Matthew; Boeve, Bradley F.; Vossel, Keith A. Journal: Alzheimer's & dementia Issue: Volume 15:Supplement 7(2019)Part 29 Page Start: P1498 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Prenatal chromosomal microarray analysis: a survey of prenatal genetic counselors' experiences and attitudes. (1st March 2013) Authors: Mikhaelian, Marina; Veach, Patricia McCarthy; MacFarlane, Ian; LeRoy, Bonnie S.; Bower, Matthew Journal: Prenatal diagnosis Issue: Volume 33:Number 4(2013:Apr.) Page Start: 371 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Third reported patient with RAP1B‐related syndromic thrombocytopenia and novel clinical findings. Issue 9 (22nd April 2022) Authors: Miller, Dana; Saeed, Azhar; Nelson, Andrew C.; Bower, Matthew; Aggarwal, Anjali Journal: American journal of medical genetics Issue: Volume 188:Issue 9(2022) Page Start: 2808 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Truncating SLC5A7 mutations underlie a spectrum of dominant hereditary motor neuropathies. (April 2018) Authors: Salter, Claire G.; Beijer, Danique; Hardy, Holly; Barwick, Katy E.S.; Bower, Matthew; Mademan, Ines; De Jonghe, Peter; Deconinck, Tine; Russell, Mark A.; McEntagart, Meriel M.; Chioza, Barry A.; Blakely, Randy D.; Chilton, John K.; De Bleecker, Jan; Baets, Jonathan; Baple, Emma L.; Walk, David; C... Journal: Neurology Issue: Volume 4:Number 2(2018) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗