Atypical presentations associated with non-polyalanine repeat PHOX2B mutations

由 Katwa, Umakanth, D'Gama, Alissa M., Qualls, Anita E., Donovan, Lucas M., Heffernan, Jody, Shi, Jiahai, Agrawal, Pankaj B.
發表在 Am J Med Genet A (2018)

Defining Hand Stereotypies in Rett Syndrome: A Movement Disorders Perspective

由 Dy, Marisela E., Waugh, Jeff L., Sharma, Nutan, O’Leary, Heather, Kapur, Kush, D’Gama, Alissa M., Sahin, Mustafa, Urion, David K., Kaufmann, Walter E.
發表在 Pediatr Neurol (2017)

GCT-37. PREVALENCE OF AUTISM SPECTRUM DISORDER AND OTHER NEURODEVELOPMENTAL DISORDERS IN PEDIATRIC PATIENTS WITH INTRACRANIAL GERM CELL TUMORS

由 Liu, Kevin X, Sethi, Roshan V, Pulsifer, Margaret B, D’Gama, Alissa M, Lavally, Beverly, Tarbell, Nancy J, Yock, Torunn I, MacDonald, Shannon M
發表在 Neuro Oncol (2020)

Novel ETFDH mutations in four cases of riboflavin responsive multiple acyl-CoA dehydrogenase deficiency

由 Fan, Xin, Xie, Bobo, Zou, Jun, Luo, Jingsi, Qin, Zailong, D'Gama, Alissa M., Shi, Jiahai, Yi, Shang, Yang, Qi, Wang, Jin, Luo, Shiyu, Chen, Shaoke, Agrawal, Pankaj B., Li, Qifei, Shen, Yiping
發表在 Mol Genet Metab Rep (2018)

Novel SPEG mutations in congenital myopathies: Genotype-phenotype correlations

由 Qualls, Anita E., Donkervoort, Sandra, Herkert, Johanna C., D’Gama, Alissa M., Bharucha-Goebel, Diana, Collins, James, Chao, Katherine R., Foley, A. Reghan, Schoots, Mirthe H., Jongbloed, Jan D.H., Bönnemann, Carsten G., Agrawal, Pankaj B.
發表在 Muscle Nerve (2018)

Somatic mutation in single human neurons tracks developmental and transcriptional history

由 Lodato, Michael A., Woodworth, Mollie B., Lee, Semin, Evrony, Gilad D., Mehta, Bhaven K., Karger, Amir, Lee, Soohyun, Chittenden, Thomas W., D’Gama, Alissa M., Cai, Xuyu, Luquette, Lovelace J., Lee, Eunjung, Park, Peter J., Walsh, Christopher A.
發表在 Science (2015)

Novel founder intronic variant in SLC39A14 in two families causing Manganism and potential treatment strategies

由 Rodan, Lance H., Hauptman, Marissa, D’Gama, Alissa M., Qualls, Anita E., Cao, Siqi, Tuschl, Karin, Al-Jasmi, Fatma, Hertecant, Jozef, Hayflick, Susan J., Wessling-Resnick, Marianne, Yang, Edward T., Berry, Gerard T., Gropman, Andrea, Woolf, Alan D., Agrawal, Pankaj B.
發表在 Mol Genet Metab (2018)

The landscape of somatic mutation in cerebral cortex of autistic and neurotypical individuals revealed by ultra-deep whole-genome sequencing

由 Rodin, Rachel E., Dou, Yanmei, Kwon, Minseok, Sherman, Maxwell A., D’Gama, Alissa M., Doan, Ryan N., Rento, Lariza M., Girskis, Kelly M., Bohrson, Craig L., Kim, Sonia N., Nadig, Ajay, Luquette, Lovelace J., Gulhan, Doga C., Park, Peter J., Walsh, Christopher A.
發表在 Nat Neurosci (2021)

mTOR Pathway Mutations Cause Hemimegalencephaly and Focal Cortical Dysplasia

由 D'Gama, Alissa M., Geng, Ying, Couto, Javier A., Martin, Beth, Boyle, Evan A., LaCoursiere, Christopher M., Hossain, Amer, Hatem, Nicole E., Barry, Brenda, Kwiatkowski, David J., Vinters, Harry V., Barkovich, A. James, Shendure, Jay, Mathern, Gary W., Walsh, Christopher A., Poduri, Annapurna
發表在 Ann Neurol (2015)

Somatic mutations activating the mTOR pathway in dorsal telencephalic progenitors cause a continuum of cortical dysplasias

由 D’Gama, Alissa M., Woodworth, Mollie B., Hossain, Amer A., Bizzotto, Sara, Hatem, Nicole E., LaCoursiere, Christopher M., Najm, Imad, Ying, Zhong, Yang, Edward, Barkovich, A. James, Kwiatkowski, David J., Vinters, Harry V, Madsen, Joseph R., Mathern, Gary W., Blümcke, Ingmar, Poduri, Annapurna, Walsh, Christopher A.
發表在 Cell Rep (2017)

Biallelic Mutations In Human DCC Cause Developmental Split Brain Syndrome

由 Jamuar, Saumya S., Schmitz-Abe, Klaus, D’Gama, Alissa M., Drottar, Marie, Chan, Wai-Man, Peeva, Maya, Servattalab, Sarah, Lam, Anh-Thu N., Delgado, Mauricio R., Clegg, Nancy J., Al Zayed, Zayed, Dogar, Mohammad Asif, Alorainy, Ibrahim A., Jamea, Abdullah Abu, Abu-Amero, Khaled, Griebel, May, Ward, Wendy, Lein, Ed S., Markianos, Kyriacos, Barkovich, A. James, Robson, Caroline D., Grant, P. Ellen, Bosley, Thomas M., Engle, Elizabeth C., Walsh, Christopher A., Yu, Timothy W.
發表在 Nat Genet (2017)

Somatic Mutations in Cerebral Cortical Malformations

由 Jamuar, Saumya S., Lam, Anh-Thu N., Kircher, Martin, D'Gama, Alissa M., Wang, Jian, Barry, Brenda J., Zhang, Xiaochang, Hill, Robert Sean, Partlow, Jennifer N., Rozzo, Aldo, Servattalab, Sarah, Mehta, Bhaven K., Topcu, Meral, Amrom, Dina, Andermann, Eva, Dan, Bernard, Parrini, Elena, Guerrini, Renzo, Scheffer, Ingrid E., Berkovic, Samuel F., Leventer, Richard J., Shen, Yiping, Wu, Bai Lin, Barkovich, A. James, Sahin, Mustafa, Chang, Bernard S., Bamshad, Michael, Nickerson, Deborah A., Shendure, Jay, Poduri, Annapurna, Yu, Timothy W., Walsh, Christopher A.
發表在 N Engl J Med (2014)