1. CEDNIK: Phenotypic and Molecular Characterization of an Additional Patient and Review of the Literature. Issue 1 (6th October 2017) Authors: Hsu, Tina; Coughlin, Carrie C.; Monaghan, Kristin G.; Fiala, Elise; McKinstry, Robert C.; Paciorkowski, Alex R.; Shinawi, Marwan Journal: Child neurology open Issue: Volume 4:Issue 1/2/3/4(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity. (26th May 2021) Authors: Ernst, Michelle E.; Baugh, Evan H.; Thomas, Amanda; Bier, Louise; Lippa, Natalie; Stong, Nicholas; Mulhern, Maureen S.; Kushary, Sulagna; Akman, Cigdem I.; Heinzen, Erin L.; Yeh, Raymond; Bi, Weimin; Hanchard, Neil A.; Burrage, Lindsay C.; Leduc, Magalie S.; Chong, Josephine S. C.; Bend, Renee; L... Journal: Epilepsia Issue: Volume 62:issue 7(2021) Page Start: e103 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. De novo variants in Myelin regulatory factor (MYRF) as candidates of a new syndrome of cardiac and urogenital anomalies. Issue 4 (15th February 2018) Authors: Pinz, Hailey; Pyle, Louise C.; Li, Dong; Izumi, Kosuke; Skraban, Cara; Tarpinian, Jennifer; Braddock, Stephen R.; Telegrafi, Aida; Monaghan, Kristin G.; Zackai, Elaine; Bhoj, Elizabeth J. Journal: American journal of medical genetics Issue: Volume 176:Issue 4(2018) Page Start: 969 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Genetic variants in the KDM6B gene are associated with neurodevelopmental delays and dysmorphic features. Issue 7 (23rd May 2019) Authors: Stolerman, Elliot S.; Francisco, Elizabeth; Stallworth, Jennifer L.; Jones, Julie R.; Monaghan, Kristin G.; Keller‐Ramey, Jennifer; Person, Richard; Wentzensen, Ingrid M.; McWalter, Kirsty; Keren, Boris; Heron, Benedicte; Nava, Caroline; Heron, Delphine; Kim, Katherine; Burton, Barbara; Al‐Musafr... Journal: American journal of medical genetics Issue: Volume 179:Issue 7(2019) Page Start: 1276 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Noninvasive Prenatal Screening for Fetal Aneuploidy, 2016 Update: A Position Statement of the American College of Medical Genetics and Genomics. Issue 1 (January 2017) Authors: Gregg, Anthony R.; Skotko, Brian G.; Benkendorf, Judith L.; Monaghan, Kristin G.; Bajaj, Komal; Best, Robert G.; Klugman, Susan; Watson, Michael S. Journal: Obstetrical & gynecological survey Issue: Volume 72:Issue 1(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions. Issue 6 (5th August 2020) Authors: Ng, Bobby G.; Eklund, Erik A.; Shiryaev, Sergey A.; Dong, Yin Y.; Abbott, Mary‐Alice; Asteggiano, Carla; Bamshad, Michael J.; Barr, Eileen; Bernstein, Jonathan A.; Chelakkadan, Shabeed; Christodoulou, John; Chung, Wendy K.; Ciliberto, Michael A.; Cousin, Janice; Gardiner, Fiona; Ghosh, Suman; Gra... Journal: Journal of inherited metabolic disease Issue: Volume 43:Issue 6(2020) Page Start: 1333 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. 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) ↗
8. The role of objective facial analysis using FDNA in making diagnoses following whole exome analysis. Report of two patients with mutations in the BAF complex genes. Issue 7 (26th April 2016) Authors: Gripp, Karen W.; Baker, Laura; Telegrafi, Aida; Monaghan, Kristin G. Journal: American journal of medical genetics Issue: Volume 170:Issue 7(2016) Page Start: 1754 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Whole exome sequencing reveals de novo pathogenic variants in KAT6A as a cause of a neurodevelopmental disorder. Issue 7 (2nd May 2016) Authors: Millan, Francisca; Cho, Megan T.; Retterer, Kyle; Monaghan, Kristin G.; Bai, Renkui; Vitazka, Patrik; Everman, David B.; Smith, Brooke; Angle, Brad; Roberts, Victoria; Immken, LaDonna; Nagakura, Honey; DiFazio, Marc; Sherr, Elliott; Haverfield, Eden; Friedman, Bethany; Telegrafi, Aida; Juusola, J... Journal: American journal of medical genetics Issue: Volume 170:Issue 7(2016) Page Start: 1791 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗