Selected Publications

Alanna Strong, Soumya Rao, Sandra von Hardenberg, Dong Li, Liza L Cox, Paul C Lee, Li Q Zhang, Waheed Awotoye, Tamir Diamond, Jessica Gold, Catherine Gooch, Lord Jephthah Joojo Gowans, Hakon Hakonarson, Anne Hing, Kathleen Loomes, Nicole Martin, Mary L Marazita, Tarja Mononen, David Piccoli, Rolph Pfundt, Salmo Raskin, Stephen W Scherer, Nara Sobriera, Courtney Vaccaro, Xiang Wang, Deborah Watson, Rosanna Weksberg, Elizabeth Bhoj, Jeffrey C Murray, Andrew C Lidral, Azeez Butali, Michael F Buckley, Tony Roscioli, David A Koolen, Laurie H Seaver, Cynthia A Prows, Rolf W Stottmann, Timothy C Cox: A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature. American journal of medical genetics. Part A 191(5): 1227–1239, May 2023.

Alanna Strong: CRISPR gene-editing therapies for hypertrophic cardiomyopathy. Nature Medicine 29(2): 305-306, February 2023.

Alanna Strong, Meckenzie Behr, Carina Lott, Abigail J Clark, Frank Mentch, Renata Pellegrino Da Silva, Danielle R Rux, Robert Campbell, Cara Skraban, Xiang Wang, Jason B Anari, Benjamin Sinder, Patrick J Cahill, Patrick Sleiman, Hakon Hakonarson: Molecular diagnosis and novel genes and phenotypes in a pediatric thoracic insufficiency cohort. Scientific reports 13(1): 991, January 2023.

Alanna Strong, Hui-Qi Qu, Sinéad Cullina, Morgan L McManus, Elaine H Zackai, Joseph Glessner, Eimear E Kenny, Hakon Hakonarson: TOPORS as a novel causal gene for Joubert syndrome. American journal of medical genetics. Part A 2023.

Nina B Gold, Sophia M Adelson, Nidhi Shah, Shardae Williams, Sarah L Bick, Emilie S Zoltick, Jessica I Gold, Alanna Strong, Rebecca Ganetzky, Amy E Roberts, Melissa Walker, Alexander M Holtz, Vijay G Sankaran, Ottavia Delmonte, Weizhen Tan, Ingrid A Holm, Jay R Thiagarajah, Junne Kamihara, Jason Comander, Emily Place, Janey Wiggs, Robert C Green: Perspectives of Rare Disease Experts on Newborn Genome Sequencing. JAMA network open 6(5), 2023.

Guozhuang Li, Alanna Strong, Haojun Wang, Ji-Sun Kim, Deborah Watson, Sen Zhao, Courtney Vaccaro, Erum Hartung, Hakon Hakonarson, Terry Jianguo Zhang, Philip F Giampietro, Nan Wu: TBX6 as a cause of a combined skeletal-kidney dysplasia syndrome. Am J Med Genet A. 188(12): 3469-3481, December 2022.

Gold JI, Gold NB, Strong A, Tully E, Xiao R, Schwartz LA, Ficicioglu C: The current state of adult metabolic medicine in the United States: Results of a nationwide survey. Genet Med. 24(8): 1722-1731, Aug 2022 Notes: doi: 10.1016/j.gim.2022.04.018. Epub 2022 May 11.

Li D, Strong A, Hou C, Downes H, Pritchard AB, Mazzeo P, Zackai EH, Conlin L, Hakonarson H : Interstitial deletion 4p15.32p16.1 and complex chromoplexy in a female proband with severe neurodevelopmental delay, growth failure and dysmorphism. Mol Cytogenet. 15(1): 33, Aug 2022 Notes: doi: 10.1186/s13039-022-00610-4.

Strong A, Ficicioglu C: Lessons learned from the long-term use of enzyme replacement therapy in the treatment of lysosomal acid lipase deficiency. J Pediatr Gastroenterol Nutr. 74(6): 726-727, Jun 2022 Notes: doi: 10.1097/MPG.0000000000003453. Epub 2022 May 17.

Omorodion J, Dowsett L, Clark RD, Fraser, Abu-El-Haija A, Strong A, Wojcik MH, Bryant AS, Gold NB: Delayed diagnosis and racial bias in children with genetic conditions. American Journal of Medical Genetics 188(4): 1118-1123, Apr 2022.