Nishitha R Pillai (Nishitha Pillai)

Publication Activity (10 Years)

Years Active: 2019-2022
Publications (10 Years): 8

Top Topics

Dna Methylation

Intellectual Disability

Top Venues

American journal of medical genetics. Part A

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

Publications

Nishitha R Pillai, Alia Ahmed, Todd Vanyo, Chester B Whitley
Early Neonatal Cardiac Phenotype in Hurler Syndrome: Case Report and Literature Review. Genes 13 (8) (2022)
Nishitha R Pillai, Dana Miller, Grace Bronken, Amrita Kahlon Salunke, Anjali Aggarwal
MED12-related Hardikar syndrome: Two additional cases and novel phenotypic features. American journal of medical genetics. Part A 188 (7) (2022)
Anjali Aggarwal, Nishitha R Pillai, Charles J Billington, Lynn Schema, Susan A Berry
Rare presentation of FDX2-related disorder and untargeted global metabolomics findings. American journal of medical genetics. Part A 188 (4) (2021)
Nishitha R Pillai, Dana Miller, Elizabeth I Pierpont, Susan A Berry, Anjali Aggarwal
Cobalamin J disease detected on newborn screening: Novel variant and normal neurodevelopmental course. American journal of medical genetics. Part A 185 (6) (2021)
Nishitha R Pillai, Hitha Amin, Charul Gijavanekar, Ning Liu, Niveen Issaq, Katarzyna A Broniowska, Alison A Bertuch, V Reid Sutton, Sarah H Elsea, Fernando Scaglia
Hematologic presentation and the role of untargeted metabolomics analysis in monitoring treatment for riboflavin transporter deficiency. American journal of medical genetics. Part A 182 (11) (2020)
Linda Z Rossetti, Kevin Glinton, Bo Yuan, Pengfei Liu, Nishitha R Pillai, Elizabeth Mizerik, Pilar Magoulas, Jill Anne Rosenfeld, Lefkothea Karaviti, Vernon R Sutton, Seema R Lalani, Daryl A Scott
Review of the phenotypic spectrum associated with haploinsufficiency of MYRF. American journal of medical genetics. Part A 179 (7) (2019)
Nishitha R Pillai, Delia Yubero, Brian J Shayota, Alfonso Oyarzábal, Rajarshi Ghosh, Qin Sun, Mahshid S Azamian, Cesar Arjona, Núria Brandi, Francesc Palau, Seema R Lalani, Rafael Artuch, Angeles García-Cazorla, Daryl A Scott
Loss of CLTRN function produces a neuropsychiatric disorder and a biochemical phenotype that mimics Hartnup disease. American journal of medical genetics. Part A 179 (12) (2019)
Nishitha R Pillai, Noura Salem AlDhaheri, Rajarshi Ghosh, Jaehyung Lim, Haley Streff, Anuranjita Nayak, Brett H Graham, Neil A Hanchard, Sarah H Elsea, Fernando Scaglia
Biallelic variants in COX4I1 associated with a novel phenotype resembling Leigh syndrome with developmental regression, intellectual disability, and seizures. American journal of medical genetics. Part A 179 (10) (2019)