1. A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families. Issue 5 (11th July 2022) Authors: Ganapathi, Mythily; Friocourt, Gaelle; Gueguen, Naig; Friederich, Marisa W.; Le Gac, Gerald; Okur, Volkan; Loaëc, Nadège; Ludwig, Thomas; Ka, Chandran; Tanji, Kurenai; Marcorelles, Pascale; Theodorou, Evangelos; Lignelli‐Dipple, Angela; Voisset, Cécile; Walker, Melissa A.; Briere, Lauren C.; Bour... Other Names: Bhattacharya Kaustuv guestEditor. Journal: Journal of inherited metabolic disease Issue: Volume 45:Issue 5(2022) Page Start: 996 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A retrospective study of adult patients with noncirrhotic hyperammonemia. Issue 6 (16th August 2020) Authors: Stergachis, Andrew B.; Mogensen, Kris M.; Khoury, Charbel C.; Lin, Alexander P.; Peake, Roy WA.; Baker, Joshua J.; Barkoudah, Ebrahim; Sahai, Inderneel; Sweetser, David A.; Berry, Gerard T.; Krier, Joel B. Journal: Journal of inherited metabolic disease Issue: Volume 43:Issue 6(2020) Page Start: 1165 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Atypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytoma. (August 2018) Authors: Machol, Keren; Jankovic, Joseph; Vijayakumar, Dhanya; Burrage, Lindsay C.; Jain, Mahim; Lewis, Richard A.; Fuller, Gregory N.; Xu, Mingchu; Penas-Prado, Marta; Gule-Monroe, Maria K.; Rosenfeld, Jill A.; Chen, Rui; Eng, Christine M.; Yang, Yaping; Lee, Brendan H.; Moretti, Paolo M.; Dhar, Shweta U... Journal: Neurology Issue: Volume 4:Number 4(2018) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Clinical, neuroimaging, and molecular spectrum of TECPR2‐associated hereditary sensory and autonomic neuropathy with intellectual disability. Issue 6 (11th May 2021) Authors: Neuser, Sonja; Brechmann, Barbara; Heimer, Gali; Brösse, Ines; Schubert, Susanna; O'Grady, Lauren; Zech, Michael; Srivastava, Siddharth; Sweetser, David A.; Dincer, Yasemin; Mall, Volker; Winkelmann, Juliane; Behrends, Christian; Darras, Basil T.; Graham, Robert J.; Jayakar, Parul; Byrne, Barry; ... Journal: Human mutation Issue: Volume 42:Issue 6(2021) Page Start: 762 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Diagnosis and management in Pitt‐Hopkins syndrome: First international consensus statement. Issue 4 (18th February 2019) Authors: Zollino, Marcella; Zweier, Christiane; Van Balkom, Ingrid D.; Sweetser, David A.; Alaimo, Joseph; Bijlsma, Emilia K.; Cody, Jannine; Elsea, Sarah H.; Giurgea, Irina; Macchiaiolo, Marina; Smigiel, Robert; Thibert, Ronald L.; Benoist, Ingrid; Clayton‐Smith, Jill; De Winter, Channa F.; Deckers, Stij... Journal: Clinical genetics Issue: Volume 95:Issue 4(2019) Page Start: 462 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Expanding the phenotypic spectrum of GABRG2 variants: a recurrent GABRG2 missense variant associated with a severe phenotype. (3rd April 2017) Authors: Zou, Fanggeng; McWalter, Kirsty; Schmidt, Lindsay; Decker, Amy; Picker, Jonathan D.; Lincoln, Sharyn; Sweetser, David A.; Briere, Lauren C.; Harini, Chellamani; Marsh, Eric; Medne, Livija; Wang, Raymond Y.; Leydiker, Karen; Mower, Andrew; Visser, Gepke; Cuppen, Inge; van Gassen, Koen L.; van der ... Journal: Journal of neurogenetics Issue: Volume 31:Number 1/2(2017) Page Start: 30 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders. Issue 9 (11th May 2022) Authors: O'Grady, Lauren; Schrier Vergano, Samantha A.; Hoffman, Trevor L.; Sarco, Dean; Cherny, Sara; Bryant, Emily; Schultz‐Rogers, Laura; Chung, Wendy K.; Sacharow, Stephanie; Immken, Ladonna L.; Holder, Susan; Blackwell, Rebecca R.; Buchanan, Catherine; Yusupov, Roman; Lecoquierre, François; Guerrot, ... Journal: American journal of medical genetics Issue: Volume 188:Issue 9(2022) Page Start: 2750 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. IQSEC2 and X-linked syndromal intellectual disability. (June 2016) Authors: Alexander-Bloch, Aaron F.; McDougle, Christopher J.; Ullman, Zhanna; Sweetser, David A. Journal: Psychiatric genetics Issue: Volume 26:Number 3(2016:Jun.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Missense variants in CTNNB1 can be associated with vitreoretinopathy—Seven new cases of CTNNB1‐associated neurodevelopmental disorder including a previously unreported retinal phenotype. Issue 1 (22nd December 2020) Authors: Rossetti, Linda Z.; Bekheirnia, Mir Reza; Lewis, Andrea M.; Mefford, Heather C.; Golden‐Grant, Katie; Tarczy‐Hornoch, Kristina; Briere, Lauren C.; Sweetser, David A.; Walker, Melissa A.; Kravets, Elijah; Stevenson, David A.; Bruenner, Georgette; Sebastian, Jessica; Knapo, Julia; Rosenfeld, Jill A... Journal: Molecular genetics & genomic medicine Issue: Volume 9:Issue 1(2021) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Novel Compound Heterozygous Mutations Expand the Recognized Phenotypes of FARS2-Linked Disease. (August 2016) Authors: Walker, Melissa A.; Mohler, Kyle P.; Hopkins, Kyle W.; Oakley, Derek H.; Sweetser, David A.; Ibba, Michael; Frosch, Matthew P.; Thibert, Ronald L. Journal: Journal of child neurology Issue: Volume 31:Number 9(2016:Sep.) Page Start: 1127 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗