Alissa M D'Gama

Publication Activity (10 Years)

Years Active: 2018-2022
Publications (10 Years): 5

Top Topics

Pulmonary Embolism

Positive Airway Pressure

Hydrogen Peroxide

Top Venues

American journal of medical genetics. Part A

NPJ genomic medicine

This page only lists publications with an associated author ORCID identifier.

Publications

Alissa M D'Gama, Maya C Del Rosario, Mairead A Bresnahan, Timothy W Yu, Monica Hsiung Wojcik, Pankaj B Agrawal
Integrating rapid exome sequencing into NICU clinical care after a pilot research study. NPJ genomic medicine 7 (1) (2022)
Alissa M D'Gama, William J Brucker, Tian Zhang, Cynthia S Gubbels, Sacha Ferdinandusse, Jiahai Shi, Patricia Ellen Grant, Grace VanNoy, Casie A Genetti, Jane Juusola, Timothy W Yu, Amy Kritzer, Pankaj B Agrawal
A phenotypically severe, biochemically "silent" case of HIBCH deficiency in a newborn diagnosed by rapid whole exome sequencing and enzymatic testing. American journal of medical genetics. Part A 182 (4) (2020)
Alissa M D'Gama, Eleina England, Jill A Madden, Jiahai Shi, Katherine R Chao, Monica Hsiung Wojcik, Alcy R Torres, Wen-Hann Tan, Gerard T Berry, Sanjay P Prabhu, Pankaj B Agrawal
Exome sequencing identifies novel missense and deletion variants in RTN4IP1 associated with optic atrophy, global developmental delay, epilepsy, ataxia, and choreoathetosis. American journal of medical genetics. Part A 185 (1) (2020)
Heather L Edward, Alissa M D'Gama, Monica Hsiung Wojcik, Catherine A Brownstein, Margaret A Kenna, P Ellen Grant, Joseph A Majzoub, Pankaj B Agrawal
A novel missense mutation in TFAP2B associated with Char syndrome and central diabetes insipidus. American journal of medical genetics. Part A 179 (7) (2019)
Umakanth Katwa, Alissa M D'Gama, Anita E Qualls, Lucas M Donovan, Jody Heffernan, Jiahai Shi, Pankaj B Agrawal
Atypical presentations associated with non-polyalanine repeat PHOX2B mutations. American journal of medical genetics. Part A 176 (7) (2018)