1. A PIGH mutation leading to GPI deficiency is associated with developmental delay and autism. Issue 6 (26th April 2018) Authors: Nguyen, Thi Tuyet Mai; Mahida, Sonal; Smith‐Hicks, Constance; Campeau, Philippe M. Journal: Human mutation Issue: Volume 39:Issue 6(2018) Page Start: 827 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Caregivers' perception of and experience with variants of uncertain significance from whole exome sequencing for children with undiagnosed conditions. Issue 2 (24th January 2019) Authors: Li, Xin; Nusbaum, Rachel; Smith‐Hicks, Constance; Jamal, Leila; Dixon, Shannan; Mahida, Sonal Journal: Journal of genetic counseling Issue: Volume 28:Issue 2(2019) Page Start: 304 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Cover Image, Volume 176A, Number 4, April 2018. Issue 4 (25th March 2018) Authors: Zarate, Yuri A.; Smith‐Hicks, Constance L.; Greene, Carol; Abbott, Mary‐Alice; Siu, Victoria M.; Calhoun, Amy R. U. L.; Pandya, Arti; Li, Chumei; Sellars, Elizabeth A.; Kaylor, Julie; Bosanko, Katherine; Kalsner, Louisa; Basinger, Alice; Slavotinek, Anne M.; Perry, Hazel; Saenz, Margarita; Szybow... Journal: American journal of medical genetics Issue: Volume 176:Issue 4(2018) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. De Novo ATP1A1 Variants in an Early-Onset Complex Neurodevelopmental Syndrome. (15th March 2022) Authors: Dohrn, Maike F.; Rebelo, Adriana P.; Srivastava, Siddharth; Cappuccio, Gerarda; Smigiel, Robert; Malhotra, Alka; Basel, Donald; van de Laar, Ingrid; Neuteboom, Rinze Frederik; Aarts-Tesselaar, Coranne; Mahida, Sonal; Brunetti-Pierri, Nicola; Taft, Ryan J.; Züchner, Stephan Journal: Neurology Issue: Volume 98:Number 11(2022) Page Start: 440 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. De Novo ATP1A1 Variants in an Early-Onset Complex Neurodevelopmental Syndrome. (15th March 2022) Authors: Dohrn, Maike F.; Rebelo, Adriana P.; Srivastava, Siddharth; Cappuccio, Gerarda; Smigiel, Robert; Malhotra, Alka; Basel, Donald; van de Laar, Ingrid; Neuteboom, Rinze Frederik; Aarts-Tesselaar, Coranne; Mahida, Sonal; Brunetti-Pierri, Nicola; Taft, Ryan J.; Züchner, Stephan Journal: Neurology Issue: Volume 98:Number 11(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Expansion of the clinical spectrum associated with AARS2‐related disorders. Issue 8 (17th May 2019) Authors: Srivastava, Siddharth; Butala, Ankur; Mahida, Sonal; Richter, John; Mu, Weiyi; Poretti, Andrea; Vernon, Hilary; VanGerpen, Jay; Atwal, Paldeep S.; Middlebrooks, Erik H.; Zee, David S.; Naidu, SakkuBai Journal: American journal of medical genetics Issue: Volume 179:Issue 8(2019) Page Start: 1556 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Genetic diagnoses in epilepsy: The impact of dynamic exome analysis in a pediatric cohort. (19th January 2020) Authors: Rochtus, Anne; Olson, Heather E.; Smith, Lacey; Keith, Louisa G.; El Achkar, Christelle; Taylor, Alan; Mahida, Sonal; Park, Meredith; Kelly, McKenna; Shain, Catherine; Rockowitz, Shira; Rosen Sheidley, Beth; Poduri, Annapurna Journal: Epilepsia Issue: Volume 61:issue 2(2020) Page Start: 249 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. KCNQ2‐DEE: developmental or epileptic encephalopathy?. Issue 3 (22nd February 2021) Authors: Berg, Anne T.; Mahida, Sonal; Poduri, Annapurna Journal: Annals of clinical and translational neurology Issue: Volume 8:Issue 3(2021) Page Start: 666 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Natural history and genotype‐phenotype correlations in 72 individuals with SATB2‐associated syndrome. Issue 4 (13th February 2018) Authors: Zarate, Yuri A.; Smith‐Hicks, Constance L.; Greene, Carol; Abbott, Mary‐Alice; Siu, Victoria M.; Calhoun, Amy R. U. L.; Pandya, Arti; Li, Chumei; Sellars, Elizabeth A.; Kaylor, Julie; Bosanko, Katherine; Kalsner, Louisa; Basinger, Alice; Slavotinek, Anne M.; Perry, Hazel; Saenz, Margarita; Szybow... Journal: American journal of medical genetics Issue: Volume 176:Issue 4(2018) Page Start: 925 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development. Issue 4 (1st March 2021) Authors: van Woerden, Geeske M.; Bos, Melanie; de Konink, Charlotte; Distel, Ben; Avagliano Trezza, Rossella; Shur, Natasha E.; Barañano, Kristin; Mahida, Sonal; Chassevent, Anna; Schreiber, Allison; Erwin, Angelika L.; Gripp, Karen W.; Rehman, Fatima; Brulleman, Saskia; McCormack, Róisín; de Geus, Gwynna... Journal: Human mutation Issue: Volume 42:Issue 4(2021) Page Start: 445 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗