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Kuntal Sen
Kuntal Sen
Assistant Professor of Genomics, Neurology and Pediatrics, Children’s National Hospital
Verified email at childrensnational.org
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Homozygous TANGO2 single nucleotide variants presenting with additional manifestations resembling alternating hemiplegia of childhood–expanding the phenotype of a recently …
K Sen, MA Hicks, AHM Huq, R Agarwal
Neuropediatrics 50 (02), 122-125, 2019
182019
Expanding Phenotypic Spectrum of Cerebral Aspartate–Glutamate Carrier Isoform 1 (AGC1) Deficiency
B Pfeiffer, K Sen, S Kaur, K Pappas
Neuropediatrics 51 (02), 160-163, 2020
162020
Review of multi-modal imaging in urea cycle disorders: the old, the new, the borrowed, and the blue
K Sen, AA Anderson, MT Whitehead, AL Gropman
Frontiers in Neurology 12, 632307, 2021
152021
Fifteen years of urea cycle disorders brain research: looking back, looking forward
K Sen, M Whitehead, CC Pinto, L Caldovic, A Gropman
Analytical biochemistry 636, 114343, 2022
132022
Multimodal imaging in urea cycle-related neurological disease–What can imaging after hyperammonemia teach us?
K Sen, MT Whitehead, AL Gropman
Translational science of rare diseases 5 (1-2), 87-95, 2020
122020
Ketogenic diet treatment of defects in the mitochondrial malate aspartate shuttle and pyruvate carrier
BK Bölsterli, E Boltshauser, L Palmieri, J Spenger, M Brunner-Krainz, ...
Nutrients 14 (17), 3605, 2022
112022
Bi-allelic variants in PNPLA6 possibly associated with Parkinsonian features in addition to spastic paraplegia phenotype
K Sen, M Finau, P Ghosh
Journal of Neurology 267 (9), 2749-2753, 2020
112020
Global regulatory and public health initiatives to advance pediatric drug development for rare diseases
C Epps, R Bax, A Croker, D Green, A Gropman, AV Klein, H Landry, ...
Therapeutic Innovation & Regulatory Science 56 (6), 964-975, 2022
102022
Mitochondrial disorders of the nervous system: A review
KK Set, K Sen, AHM Huq, R Agarwal
Clinical Pediatrics 58 (4), 381-394, 2019
102019
Biallelic variants in LAMB1 causing Hydranencephaly: a severe phenotype of a rare Malformative encephalopathy
K Sen, S Kaur, DW Stockton, M Nyhuis, J Roberson
American Journal of Perinatology Reports 11 (01), e26-e28, 2021
72021
Select ethical aspects of next-generation sequencing tests for newborn screening and diagnostic evaluation of critically ill newborns
K Sen, J Harmon, AL Gropman
International Journal of Neonatal Screening 7 (4), 76, 2021
52021
Management considerations for stroke-like episodes in MELAS with concurrent COVID-19 infection
K Sen, D Harrar, A Hahn, EM Wells, AL Gropman
Journal of Neurology, 1-4, 2021
52021
Novel presentations associated with a PDHA1 variant–Alternating hemiplegia in Hemizygote proband and Guillain Barre Syndrome in Heterozygote mother
K Sen, G Grahame, JK Bedoyan, AL Gropman
European Journal of Paediatric Neurology 31, 27-30, 2021
52021
Malate dehydrogenase 2 deficiency is an emerging cause of pediatric epileptic encephalopathy with a recognizable biochemical signature
JRC Priestley, LM Pace, K Sen, A Aggarwal, CAPF Alves, IM Campbell, ...
Molecular Genetics and Metabolism Reports 33, 100931, 2022
42022
More than meets the eye: infant presenting with hypoxic ischaemic encephalopathy
K Sen, R Agarwal
Case Reports 2018, bcr-2017-223614, 2018
42018
Solid organ transplantation in methylmalonic acidemia and propionic acidemia: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)
K Sen, LC Burrage, KA Chapman, I Ginevic, GV Mazariegos, BH Graham, ...
Genetics in Medicine 25 (2), 100337, 2023
32023
Genetic and mitochondrial metabolic analyses of an atypical form of Leigh syndrome
M Uittenbogaard, K Sen, M Whitehead, CA Brantner, Y Wang, LJ Wong, ...
Frontiers in cell and developmental biology 9, 767407, 2021
32021
Focus: Rare Disease: Neuromonitoring in Rare Disorders of Metabolism
C Castillo-Pinto, K Sen, A Gropman
The Yale Journal of Biology and Medicine 94 (4), 645, 2021
32021
Expanding role of proton magnetic resonance spectroscopy: timely diagnosis and treatment initiation in partial ornithine transcarbamylase deficiency
K Sen, CC Pinto, AL Gropman
Journal of Pediatric Genetics 10 (01), 077-080, 2021
32021
Mild persistent isolated hypermethioninemia identified through newborn screening in Michigan
K Sen, MD Felice, A Bannick, R Colombo, RL Conway
Journal of pediatric genetics 8 (02), 054-057, 2019
32019
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