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Author/Creator Dulik, Matthew C.

1. Approaches to carrier testing and results disclosure in translational genomics research: The clinical sequencing exploratory research consortium experience. Issue 6 (21st August 2018)

Authors:
Porter, Kathryn M.; Kauffman, Tia L.; Koenig, Barbara A.; Lewis, Katie L.; Rehm, Heidi L.; Richards, Carolyn Sue; Strande, Natasha T.; Tabor, Holly K.; Wolf, Susan M.; Yang, Yaping; Amendola, Laura M.; Azzariti, Danielle R.; Berg, Jonathan S.; Bergstrom, Katie; Biesecker, Leslie G.; Biswas, Sawon...
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 6:Issue 6(2018)
Page Start:
898
Record Type:
Journal Article
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2. Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation. Issue 12 (10th November 2020)

Authors:
McCormick, Elizabeth M.; Lott, Marie T.; Dulik, Matthew C.; Shen, Lishuang; Attimonelli, Marcella; Vitale, Ornella; Karaa, Amel; Bai, Renkui; Pineda‐Alvarez, Daniel E.; Singh, Larry N.; Stanley, Christine M.; Wong, Stacey; Bhardwaj, Anshu; Merkurjev, Daria; Mao, Rong; Sondheimer, Neal; Zhang, Shi...
Journal:
Human mutation
Issue:
Volume 41:Issue 12(2020)
Page Start:
2028
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

3. Utility and limitations of exome sequencing in the molecular diagnosis of pediatric inherited platelet disorders. Issue 1 (20th October 2017)

Authors:
Romasko, Edward J.; Devkota, Batsal; Biswas, Sawona; Jayaraman, Vijayakumar; Rajagopalan, Ramakrishnan; Dulik, Matthew C.; Thom, Christopher S.; Choi, Jiwon; Jairam, Sowmya; Scarano, Maria I.; Krantz, Ian D.; Spinner, Nancy B.; Conlin, Laura K.; Lambert, Michele P.
Journal:
American journal of hematology
Issue:
Volume 93:Issue 1(2018:Jan.)
Page Start:
8
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗