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Author/Creator Stong, Nicholas

12. NBEA: Developmental disease gene with early generalized epilepsy phenotypes. Issue 5 (25th October 2018)

Authors:
Mulhern, Maureen S.; Stumpel, Constance; Stong, Nicholas; Brunner, Han G.; Bier, Louise; Lippa, Natalie; Riviello, James; Rouhl, Rob P. W.; Kempers, Marlies; Pfundt, Rolph; Stegmann, Alexander P. A.; Kukolich, Mary K.; Telegrafi, Aida; Lehman, Anna; Lopez‐Rangel, Elena; Houcinat, Nada; Barth, Mag...
Journal:
Annals of neurology
Issue:
Volume 84:Issue 5(2018)
Page Start:
788
Record Type:
Journal Article
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13. Rare deleterious de novo missense variants in Rnf2/Ring2 are associated with a neurodevelopmental disorder with unique clinical features. Issue 14 (16th April 2021)

Authors:
Luo, Xi; Schoch, Kelly; Jangam, Sharayu V; Bhavana, Venkata Hemanjani; Graves, Hillary K; Kansagra, Sujay; Jasien, Joan M; Stong, Nicholas; Keren, Boris; Mignot, Cyril; Ravelli, Claudia; Bellen, Hugo J; Wangler, Michael F; Shashi, Vandana; Yamamoto, Shinya
Journal:
Human molecular genetics
Issue:
Volume 30:Issue 14(2021)
Page Start:
1283
Record Type:
Journal Article
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15. Subtelomeric p53 binding prevents accumulation of DNA damage at human telomeres. (12th December 2015)

Authors:
Tutton, Stephen; Azzam, Greggory A; Stong, Nicholas; Vladimirova, Olga; Wiedmer, Andreas; Monteith, Jessica A; Beishline, Kate; Wang, Zhuo; Deng, Zhong; Riethman, Harold; McMahon, Steven B; Murphy, Maureen; Lieberman, Paul M
Journal:
EMBO journal
Issue:
Volume 35:Number 2(2016)
Page Start:
193
Record Type:
Journal Article
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16. The microRNA processor DROSHA is a candidate gene for a severe progressive neurological disorder. Issue 17 (11th April 2022)

Authors:
Barish, Scott; Senturk, Mumine; Schoch, Kelly; Minogue, Amanda L; Lopergolo, Diego; Fallerini, Chiara; Harland, Jake; Seemann, Jacob H; Stong, Nicholas; Kranz, Peter G; Kansagra, Sujay; Mikati, Mohamad A; Jasien, Joan; El-Dairi, Mays; Galluzzi, Paolo; Ariani, Francesca; Renieri, Alessandra; Mari,...
Journal:
Human molecular genetics
Issue:
Volume 31:Issue 17(2022)
Page Start:
2934
Record Type:
Journal Article
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17. TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study. Issue 8 (27th May 2021)

Authors:
Bowles, Bradley; Ferrer, Alejandro; Nishimura, Carla J.; Pinto e Vairo, Filippo; Rey, Tristan; Leheup, Bruno; Sullivan, Jennifer; Schoch, Kelly; Stong, Nicholas; Agolini, Emanuele; Cocciadiferro, Dario; Williams, Abigail; Cummings, Alex; Loddo, Sara; Genovese, Silvia; Roadhouse, Chelsea; McWalter...
Journal:
American journal of medical genetics
Issue:
Volume 185:Issue 8(2021)
Page Start:
2417
Record Type:
Journal Article
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18. Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study. Issue 10173 (23rd February 2019)

Authors:
Petrovski, Slavé; Aggarwal, Vimla; Giordano, Jessica L; Stosic, Melissa; Wou, Karen; Bier, Louise; Spiegel, Erica; Brennan, Kelly; Stong, Nicholas; Jobanputra, Vaidehi; Ren, Zhong; Zhu, Xiaolin; Mebane, Caroline; Nahum, Odelia; Wang, Quanli; Kamalakaran, Sitharthan; Malone, Colin; Anyane-Yeboa, K...
Journal:
Lancet
Issue:
Volume 393:Issue 10173(2019)
Page Start:
758
Record Type:
Journal Article
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