Recent Publications
There is a wide breadth of expertise in research at Columbia, and many of our alums continue to be engaged in significant schoalrly work after graduation. Explore our recent faculty and student publications below.
May 2024
- Suellen Jackson, Rebecca Freeman, Adrianna Noronha, Hafsah Jamil, Eric Chavez, Jason Carmichael, Kaylee Ruiz, Christine Miller, Sarah Benke, Rosalie Perrot, Maryam Hockley, Kady Murphy, Aimiel Casillan (GC'22), et al: Applying data science methodologies with artificial intelligence variant interpretation to map and estimate genetic disorder prevalence utilizing clinical data American Journal of Medical Genetics
April 2024
- Julia Wynn, Anna Karlsen (GC'21), Benjamin Huber, Alina Levine, Amanie Salem, Casey White, Marti Luby, Ekaterina Bezborodko, Sabrina Xiao, Wendy Chung, Robert Klitzman, Paul Applebaum: Impact of a Genetic Diagnosis for a Child's Autism on Parental Perceptions Journal of Autism and Developmental Disorders
- Bree Martin (GC'21), Sarah Vargas, Holly Hindman, Anna Rothstein, Robert Folberg, Richard Goldstein: Sudden Death in a Child With Ocular Lesions JAMA Ophthalmology
March 2024
- Connolly Steigerwald (GC'21), Carina Bertolini (GC'22), Martin McElhiney, Amanda Bergner, Matthew Harms, Elizabeth Harrington: Individuals' experiences in genetic counseling and predictive testing for familial amyotrophic lateral sclerosis Journal of Genetic Counseling.
- Bree Martin (GC'21), Tristan Sands, Louise Bier, Amanda Bergner, Amelia Boehme, Natalie Lippa: Comparing the frequency of variants of uncertain significance (VUS) between ancestry groups in a paediatric epilepsy cohort Journal of Medical Genetics.
February 2024
- Michelle Florido, Jessica Giordano: Processing the process: Reflections on genetic counselor-led student supervision groups and practical tips for future supervisors Journal of Genetic Counseling
- Alison Garber, Lisa Weingarten, Nicolas Abreu, Houda Elloumi, Tobias Haack, Clara Hildebrant, Nuria Martinez-Gil, Jennifer Mathews, Amelia Miller, Irene Valenzuela Palafoll, Connolly Steigerwald (GC'21), Wendy Chung: Rare predicted deleterious FEZF2 variants are associated with a neurodevelopmental phenotype American Journal of Medical Genetics
- Haley Newman, Mary Egan Clark (GC'22), Derek Wong, Jinhua Wu, Garrett Brodeur, Stephen Hunger, Sarah Tasian, et al: Genomic profiling of pediatric hematologic malignancies and diagnosis of cancerpredisposition syndromes: Tumor-only versus paired tumor-normal sequencing Haematologica
- Francesco Gavazzi, Carlos Dominguez Gonzalez (GC'23), Kaley Arnold, Meghan Swantkowski, Lauren Charlton, Nicholson Modesti, Asif Dar, Adeline Vanderver, Mariko Bennett, Laura Adang: Nucleotide metabolism, leukodystrophies, and CNS pathology Journal of Inherited Metabolic Disease
- Luis Garcia, Carlos Dominguez Gonzalez (GC'23), Alyssa Gagne, Jean Ann McGuire, Deborah French, Asako Takanohashi, Akshata Almad, Adeline Vanderver, Sunetra Sase: Generation of three induced pluripotent stem cell lines from individuals with Aicardi-Goutieres syndrome caused by a c.3019G>A(p.G1007R) autosomal dominant pathogenic variant in ADAR1 Stem Cell Research
January 2024
- Chloe Cheung (GC'22), Sara Berger, Meredith Ross, Tamar Kramer, Yuhuan Li, Carli Andrews, Katia Dergham, Elana Spitz, Michelle Florido, Priyanka Ahimaz: Assessing management practices for variants of uncertain significance among genetic counselors in pediatrics Journal of Genetic Counseling.
December 2023
- Priyanka Ahimaz, Amanda Bergner, Michelle Florido, Nina Harkavy, Sriya Bhattachryya: Genetic counselors' utilization of ChatGPT in professional practice: A cross-sectional study American Journal of Medical Genetics.
- Priyanka Ahimaz, Kelsie Bogyo, Jennah Foltz (GC'22), Monisha Sebastin, Ketki Naik, Tamar Kramer, Kelsie Bogyo, Michelle Primiano: Future Frontiers: Exploration of practices, challenges, and educational needs of genetic counselors in emerging subspecialties Journal of Genetic Counseling.
- Andrew Freiman (GC'23), Aisha Rekab, Amanda Bergner, Elaine Pereira, Yuhuan Lin, Priyanka Ahimaz: Exploring the evolving roles of clinical geneticists and genetic counselors in the era of genomic medicine American Journal of Medical Genetics.
- Jessica Giordano, Ronald Wapner: Genomics of stillbirth Seminars in Perinatalogy.
- Dani Temares (GC'22), Lusha Liang, Amanda Bergner, Muredach Reilly, Isha Kalia: Patient experiences in receiving telegenetics care for inherited cardiovascular diseases Journal of Community Genetics.
- Connolly Steigerwald (GC'21), Jill Borsuk, John Pappas, Miranda Galey, Anna Scott, Joseph Devaney, Danny Miller, Nicolas Abreu: CLN2 disease resulting from a novel homozygous deep intronic splice variant in TPP1 discovered using long-read sequencing Molecular Genetics & Genomic Medicine