NishithaRadhakrishnaPillaiMD

PubMed

• Parental request for familial carrier testing in early childhood: The genetic counseling perspective.
  Sabrina V Southwick, Ian M MacFarlane, Catherine Long, Nishitha R Pillai, Rebecca Tryon> ;Clinical Genetics. 2024 Mar 1
• 1 citations
  Biochemical signatures of disease severity in multiple sulfatase deficiency.
  Laura A Adang, Samar Mowafy, Zackary M Herbst, Zitao Zhou, Lars Schlotawa, Karthikeyan Radhakrishnan, Brenna Bentley, Vi Pham, Emily Yu, Nishitha R Pillai, Paul J Orch...> ;Journal of Inherited Metabolic Disease. 2024 Mar 1
• 1 citations
  Arteriovenous malformations as a presenting sign of PTEN hamartoma tumor syndrome: A case series.
  Morgan Dykman, Nishitha R Pillai, Kelsey Lenhart, Cynthia Nicholson, Christina Boull, Erin Fritz, Siobhan Flanagan, Sheilagh Maguiness> ;Pediatric Dermatology. 2023 Oct 6
• Hematopoietic cell transplantation for Mucopolysaccharidosis I in the presence of decreased cardiac function.
  Nishitha R Pillai, Sara A Elsbecker, Ashish O Gupta, Troy C Lund, Paul J Orchard, Elizabeth Braunlin> ;Molecular Genetics and Metabolism. 2023 Nov 1
• Disparities in late and lost: Pediatricians' role in following Pompe disease identified by newborn screening.
  Nishitha R Pillai, Tory V Kaye, Sondra D Rosendahl, Alia Ahmed, Amy D Hietala, Alissa B Jorgenson, Brendan C Lanpher, Chester B Whitley, Fabie, N.> ;Molecular Genetics and Metabolism. 2023 Jun 25
• 5 citations
  Phenotype-autosomal recessive osteopetrosis.
  Nishitha R Pillai, Anjali Aggarwal, Paul Orchard> ;Bone. 2022 Dec 1
• 1 citations
  Early Neonatal Cardiac Phenotype in Hurler Syndrome: Case Report and Literature Review.
  Nishitha R Pillai, Alia Ahmed, Todd Vanyo, Chester B Whitley> ;Genes. 2022 Jul 22
• MED12-related Hardikar syndrome: Two additional cases and novel phenotypic features.
  Nishitha R Pillai, Dana Miller, Grace Bronken, Amrita Kahlon Salunke, Anjali Aggarwal> ;American Journal of Medical Genetics. Part A. 2022 Jul 1
• 3 citations
  Rare presentation of FDX2-related disorder and untargeted global metabolomics findings.
  Anjali Aggarwal, Nishitha R Pillai, Charles J Billington Jr, Lynn Schema, Susan A Berry> ;American Journal of Medical Genetics. Part A. 2022 Apr 1
• Gastrointestinal Dysmotility Is a Significant Feature in 2 Siblings With a Novel Inositol 1,4,5-Triphosphate Receptor 1 (ITPR1) Missense Variant.
  Naomi E. Butler Tjaden, Eric H. Chiou, Nishitha R. Pillai, Deborah Schady, Bruno P. Chumpitazi> ;ACG Case Reports Journal. 2021 Oct 1
• Cobalamin J disease detected on newborn screening: Novel variant and normal neurodevelopmental course.
  Nishitha R. Pillai, Dana Miller, Elizabeth I. Pierpont, Susan A. Berry, Anjali Aggarwal> ;American Journal of Medical Genetics. Part A. 2021 Mar 17
• 11 citations
  Hematologic presentation and the role of untargeted metabolomics analysis in monitoring treatment for riboflavin transporter deficiency.
  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> ;American Journal of Medical Genetics. Part A. 2020 Sep 10
• 31 citations
  Liver transplantation in propionic and methylmalonic acidemia: A single center study with literature review.
  Nishitha R. Pillai, Bridget M. Stroup, Anna D. Poliner, Linda Z. Rossetti, Brandy Rawls, Brian J. Shayota, Claudia Soler-Alfonso, Hari Priya Tunuguntala, John A. Goss,...> ;Molecular Genetics and Metabolism. 2019 Nov 7
• 9 citations
  Loss of CLTRN function produces a neuropsychiatric disorder and a biochemical phenotype that mimics Hartnup disease
  Nishitha R. Pillai, Delia Yubero, Brian J. Shayota, Alfonso Oyarzabal, Rajarshi Ghosh, Mahshid S. Azamian, César Arjona, Nuria Brandi, Francesc Palau, Seema R. Lalani,...> ;American Journal of Medical Genetics. Part A. 2019 Dec 1
• 9 citations
  Biallelic variants in COX4I1 associated with a novel phenotype resembling Leigh syndrome with developmental regression, intellectual disability, and seizures
  Nishitha R. Pillai, Noura S. AlDhaheri, Rajarshi Ghosh, Jaehyung Lim, Haley Streff, Anuranjita Nayak, Brett H. Graham, Neil A. Hanchard, Sarah H. Elsea, Fernando Scaglia> ;American Journal of Medical Genetics. Part A. 2019 Jul 10
• 41 citations
  Review of the phenotypic spectrum associated with haploinsufficiency of MYRF.
  Linda Z. Rossetti, Kevin E. Glinton, Bo Yuan, Pengfei Liu, Nishitha R. Pillai, Elizabeth Mizerik, Pilar L. Magoulas, Jill A. Rosenfeld, Lefkothea P. Karaviti, Vernon R...> ;American Journal of Medical Genetics. Part A. 2019 May 8
• 3 citations
  Novel deletion of 6p21.31p21.1 associated with laryngeal cleft, developmental delay, dysmorphic features and vascular anomaly.
  Nishitha R. Pillai, Dana Marafi, Sonia A. Monteiro, Mered Parnes, Binoy Chandy, Ankita Patel, Carlos A. Bacino, Amy M. Breman, Lindsay C. Burrage> ;European Journal of Medical Genetics. 2019 Jun 1
• 3 citations
  Megaloblastic Anemia Progressing to Severe Thrombotic Microangiopathy in Patients with Disordered Vitamin B 12 Metabolism: Case Reports and Literature Review
  Dolores Mullikin, Nishitha R. Pillai, Rossana Sanchez, Anne H. O'Donnell Luria, Amy Kritzer, Leyat Tal, Mohammed Almannai, Gerard T. Berry, Michael J. Gambello, Hong L...> ;The Journal of Pediatrics. 2018 Nov 1
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