1. A detailed analysis of methylmalonic acid kinetics during hemodialysis and after combined liver/kidney transplantation in a patient with mut0 methylmalonic acidemia. Issue 6 (25th June 2014) Authors: Vernon, Hilary J.; Sperati, C. John; King, Joshua D.; Poretti, Andrea; Miller, Neil R.; Sloan, Jennifer L.; Cameron, Andrew M.; Myers, Donna; Venditti, Charles P.; Valle, David Journal: Journal of inherited metabolic disease Issue: Volume 37:Issue 6(2014) Page Start: 899 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A possible ocular biomarker for response to hyperornithinemia in gyrate atrophy: the effect of pyridoxine, lysine, and arginine-restricted diet in a patient with advanced disease. (4th March 2023) Authors: da Palma, Mariana Matioli; Ku, Cristy; Igelman, Austin D.; Burr, Amanda; Shevchenko Sutherland, Liliya; Koerner, Celide; Valle, David; Pennesi, Mark E.; Yang, Paul Journal: Ophthalmic genetics Issue: Volume 44:Number 2(2023) Page Start: 191 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A promoter variant in the OTC gene associated with late and variable age of onset hyperammonemia. Issue 4 (28th June 2022) Authors: Han, Sangwoo T.; Anderson, Katherine J.; Bjornsson, Hans T.; Longo, Nicola; Valle, David Journal: Journal of inherited metabolic disease Issue: Volume 45:Issue 4(2022) Page Start: 710 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. An anadysplasia‐like, spontaneously remitting spondylometaphyseal dysplasia secondary to lamin B receptor (LBR) gene mutations: Further definition of the phenotypic heterogeneity of LBR‐bone dysplasias. (27th October 2014) Authors: Sobreira, Nara; Modaff, Peggy; Steel, Gary; You, Jing; Nanda, Sonia; Hoover‐Fong, Julie; Valle, David; Pauli, Richard M. Journal: American journal of medical genetics Issue: Volume 167:Number 1(2015:Jan.) Page Start: 159 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Defect in phosphoinositide signalling through a homozygous variant in PLCB3 causes a new form of spondylometaphyseal dysplasia with corneal dystrophy. Issue 2 (9th November 2017) Authors: Ben-Salem, Salma; Robbins, Sarah M; LM Sobreira, Nara; Lyon, Angeline; Al-Shamsi, Aisha M; Islam, Barira K; Akawi, Nadia A; John, Anne; Thachillath, Pramathan; Al Hamed, Sania; Valle, David; Ali, Bassam R; Al-Gazali, Lihadh Journal: Journal of medical genetics Issue: Volume 55:Issue 2(2018) Page Start: 122 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Enhanced conversion of induced neuronal cells (iN cells) from human fibroblasts: Utility in uncovering cellular deficits in mental illness-associated chromosomal abnormalities. (December 2015) Authors: Passeri, Eleonora; Wilson, Ashley M.; Primerano, Amedeo; Kondo, Mari A.; Sengupta, Srona; Srivastava, Rupali; Koga, Minori; Obie, Cassandra; Zandi, Peter P.; Goes, Fernando S.; Valle, David; Rapoport, Judith L.; Sawa, Akira; Kano, Shin-ichi; Ishizuka, Koko Journal: Neuroscience research Issue: Volume 101(2015:Dec.) Page Start: 57 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Familial monophasic acute transverse myelitis due to the pathogenic variant in VPS37A. (February 2018) Authors: Mealy, Maureen A.; Nam, Tai-Seung; Pardo, Santiago J.; Pardo, Carlos A.; Sobreira, Nara L.; Avramopoulos, Dimitrios; Valle, David; Burns, Kathleen H.; Levy, Michael Journal: Neurology Issue: Volume 4:Number 1(2018) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Functional Variants in DPYSL2 Sequence Increase Risk of Schizophrenia and Suggest a Link to mTOR Signaling. Issue 1 (1st January 2015) Authors: Liu, Yaping; Pham, Xuan; Zhang, Lilei; Chen, Pei-lung; Burzynski, Grzegorz; McGaughey, David M; He, Shan; McGrath, John A; Wolyniec, Paula; Fallin, Margaret D; Pierce, Megan S; McCallion, Andrew S; Pulver, Ann E; Avramopoulos, Dimitrios; Valle, David Journal: G3 Issue: Volume 5:Issue 1(2015) Page Start: 61 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. GeneMatcher Aids in the Identification of a New Malformation Syndrome with Intellectual Disability, Unique Facial Dysmorphisms, and Skeletal and Connective Tissue Abnormalities Caused by De Novo Variants in HNRNPK. Issue 10 (6th August 2015) Authors: Au, P. Y. Billie; You, Jing; Caluseriu, Oana; Schwartzentruber, Jeremy; Majewski, Jacek; Bernier, Francois P.; Ferguson, Marcia; Valle, David; Parboosingh, Jillian S.; Sobreira, Nara; Innes, A. Micheil; Kline, Antonie D. Journal: Human mutation Issue: Volume 36:Issue 10(2015:Oct.) Page Start: 1009 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene. Issue 10 (13th August 2015) Authors: Sobreira, Nara; Schiettecatte, François; Valle, David; Hamosh, Ada Journal: Human mutation Issue: Volume 36:Issue 10(2015:Oct.) Page Start: 928 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗