1. 225: ORTNER SYNDROME AS SYMPTOM OF HEREDITARY HEMORRHAGIC TELANGIECTASIA WITH PULMONARY HYPERTENSION. (January 2018) Authors: Alsheikh, Batool; Wigby, Kristen; Carroll, Jeanne; Nahas, Shareef; Chowdhury, Shimul; Dimmock, David; Murthy, Raghav; Yeh, Justin; Harvey, Helen; Coufal, Nicole Journal: Critical care medicine Issue: Volume 46:Supplement 1 1(2018) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. 342. Clinical Utility of a Next Generation Sequencing Test for Pathogen Detection in Pediatric Central Nervous System Infections. (31st December 2020) Authors: Ramchandar, Nanda; Foley, Jennifer; Enriquez, Claudia; Osborne, Stephanie; Arrieta, Antonio; Sendi, Prithvi; Totapally, Balagangadhar; Dimmock, David; Farnaes, Lauge; Salyakina, Daria; Janvier, Michelin J Journal: Open forum infectious diseases Issue: Volume 7:Number 1(2020) Supplement Page Start: S241 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. 577: IMPACT OF RAPID WHOLE GENOME SEQUENCING IN THE PICU. (16th December 2021) Authors: Rodriguez, Katherine; Kobayashi, Erica Sanford; Coufal, Nicole; Dimmock, David; Kingsmore, Stephen Journal: Critical care medicine Issue: Volume 50(2022)Supplement 1 Page Start: 280 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. 577: IMPACT OF RAPID WHOLE GENOME SEQUENCING IN THE PICU. (January 2022) Authors: Rodriguez, Katherine; Kobayashi, Erica Sanford; Coufal, Nicole; Dimmock, David; Kingsmore, Stephen Journal: Critical care medicine Issue: Volume 50(2022)Supplement 1 Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. 801: Palliative Care Outcomes for Children After Rapid Whole Genome Sequencing. (January 2021) Authors: Perofsky, Kate; Doshi, Ami; Walters, Julia Beauchamp; Dimmock, David; Kingsmore, Stephen; Coufal, Nicole Journal: Critical care medicine Issue: Volume 49:Supplement 1 1(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Addressing ethical and laboratory challenges for initiation of a rapid whole genome sequencing program. Issue 1 (9th August 2021) Authors: Malone Jenkins, Sabrina; Palmquist, Rachel; Kapron, Ashley L.; Torr, Carrie; Best, D. Hunter; Karren, Mary Anne; Brunelli, Luca; Yandell, Mark; Tristani-Firouzi, Martin; Dimmock, David; Watts, Brian; Botkin, Jeffrey R.; Johnson, Ann; Bonkowsky, Joshua L. Journal: Journal of clinical and translational science Issue: Volume 5:Issue 1(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project. Issue 3 (16th March 2017) Authors: Karaa, Amel; Rahman, Shamima; Lombès, Anne; Yu‐Wai‐Man, Patrick; Sheikh, Muniza K.; Alai‐Hansen, Sherita; Cohen, Bruce H.; Dimmock, David; Emrick, Lisa; Falk, Marni J.; McCormack, Shana; Mirsky, David; Moore, Tony; Parikh, Sumit; Shoffner, John; Taivassalo, Tanja; Tarnopolsky, Mark; Tein, Ingrid;... Journal: Journal of inherited metabolic disease Issue: Volume 40:Issue 3(2017) Page Start: 403 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. ECHS1 disease in two unrelated families of Samoan descent: Common variant ‐ rare disorder. Issue 1 (28th October 2020) Authors: Simon, Mariella T.; Eftekharian, Shaya S.; Ferdinandusse, Sacha; Tang, Sha; Naseri, Take; Reupena, Muagututi'a Sefuiva; McGarvey, Stephen T.; Minster, Ryan L.; Weeks, Daniel E.; Nguyen, Daniel D.; Lee, Sansan; Ellsworth, Katarzyna A.; Vaz, Frédéric M.; Dimmock, David; Pitt, James; Abdenur, Jose E. Journal: American journal of medical genetics Issue: Volume 185:Issue 1(2021) Page Start: 157 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Erratum to: Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project. Issue 1 (4th October 2017) Authors: Karaa, Amel; Rahman, Shamima; Lombès, Anne; Yu‐Wai‐Man, Patrick; Sheikh, Muniza K.; Alai‐Hansen, Sherita; Cohen, Bruce H.; Dimmock, David; Emrick, Lisa; Falk, Marni J.; McCormack, Shana; Mirsky, David; Moore, Tony; Parikh, Sumit; Shoffner, John; Taivassalo, Tanja; Tarnopolsky, Mark; Tein, Ingrid;... Journal: Journal of inherited metabolic disease Issue: Volume 41:Issue 1(2018) Page Start: 151 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Expanding the phenotypic and molecular spectrum of NFS1‐related disorders that cause functional deficiencies in mitochondrial and cytosolic iron–sulfur cluster containing enzymes. Issue 3 (19th January 2022) Authors: Yang, Jennifer H.; Friederich, Marisa W.; Ellsworth, Katarzyna A.; Frederick, Aliya; Foreman, Emily; Malicki, Denise; Dimmock, David; Lenberg, Jerica; Prasad, Chitra; Yu, Andrea C.; Anthony Rupar, C.; Hegele, Robert A.; Manickam, Kandamurugu; Koboldt, Daniel C.; Crist, Erin; Choi, Samantha S.; Fa... Journal: Human mutation Issue: Volume 43:Issue 3(2022) Page Start: 305 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗