Diagnostic utility of exome sequencing for kidney disease EE Groopman, M Marasa, S Cameron-Christie, S Petrovski, VS Aggarwal, ... New England Journal of Medicine 380 (2), 142-151, 2019 | 607 | 2019 |
Genotype-phenotype correlations in hereditary elliptocytosis and hereditary pyropoikilocytosis O Niss, S Chonat, N Dagaonkar, MO Almansoori, K Kerr, ZR Rogers, ... Blood Cells, Molecules, and Diseases 61, 4-9, 2016 | 75 | 2016 |
The Spectrum of SPTA1-Associated Hereditary Spherocytosis S Chonat, M Risinger, H Sakthivel, O Niss, JA Rothman, L Hsieh, ... Frontiers in physiology 10, 815, 2019 | 43 | 2019 |
A comprehensive next‐generation sequencing assay for the diagnosis of epidermolysis bullosa AW Lucky, N Dagaonkar, K Lammers, A Husami, D Kissell, K Zhang Pediatric dermatology 35 (2), 188-197, 2018 | 39 | 2018 |
Expansion of the GRIA2 phenotypic representation: a novel de novo loss of function mutation in a case with childhood onset schizophrenia A Alkelai, S Shohat, L Greenbaum, T Schechter, B Draiman, ... Journal of human genetics 66 (3), 339-343, 2021 | 21 | 2021 |
Hereditary xerocytosis: diagnostic considerations M Risinger, E Glogowska, S Chonat, K Zhang, N Dagaonkar, CH Joiner, ... American journal of hematology 93 (3), E67, 2018 | 6 | 2018 |
The spectrum of alpha-spectrin associated hereditary spherocytosis S Chonat, M Risinger, N Dagaonkar, T Maghathe, J Rothman, J Connor, ... Blood 126 (23), 941, 2015 | 4 | 2015 |
The novel PIEZO1 mutation p. L2023V is causal for hereditary xerocytosis resulting in delayed channel inactivation and a dehydrated red blood cell phenotype MA Risinger, E Glogowska, AH Begtrup, N Dagaonkar, S Chonat, ... Blood 124 (21), 741, 2014 | 4 | 2014 |
Corrigendum: The Spectrum of SPTA1-Associated Hereditary Spherocytosis S Chonat, M Risinger, H Sakthivel, O Niss, JA Rothman, L Hsieh, ... Frontiers in Physiology 10, 1331, 2019 | 3 | 2019 |
Clinical application of massively parallel sequencing in the diagnosis of hereditary hemolytic and dyserythropoietic anemias H Lesmana, GE Christakopoulos, KG Seu, M Risinger, H Duzkale, ... Blood 128 (22), 4746, 2016 | 2 | 2016 |
Development Of a Comprehensive Rapid Next-Generation Sequencing Assay For The Diagnosis Of Inherited Hemolytic Anemia AH Begtrup, N Dagaonkar, S Pushkaran, KM Giger, A Husami, D Kissell, ... Blood 122 (21), 949, 2013 | 1 | 2013 |
A comprehensive next-generation sequencing assay for the diagnosis of epidermolysis bullosa (vol 35, pg 188, 2018) AW Lucky, N Dagaonkar, K Lammers PEDIATRIC DERMATOLOGY 35 (5), 732-735, 2018 | | 2018 |
Cellular Hydration and Oxidation As Phenotype Modifiers in Sickle Cell Anemia MA Risinger, N Dagaonkar, GE Christakopoulos, J Liu, KG Seu, ... Blood 128 (22), 2446, 2016 | | 2016 |
HEREDITARY SPHEROCYTOSIS DUE TO BIALLELIC OR MONOALLELIC ANKYRIN MUTATIONS S Chonat, N Dagaonkar, T Maghathe, J Connor, E Mullins, K Zhang, ... PEDIATRIC BLOOD & CANCER 61, S70-S70, 2014 | | 2014 |
AUTOSOMAL RECESSIVE HEREDITARY SPHEROCYTOSIS IN PATIENTS WITH THE C. 4339-99C> T alpha LEPRA MUTATION IN THE SPTA1 GENE J Connor, N Dagaonkar, S Chonat, M Keddache, K Zhang, A Begtrup, ... PEDIATRIC BLOOD & CANCER 61, S16-S17, 2014 | | 2014 |
DEVELOPMENT OF A COMPREHENSIVE RAPID NEXT-GENERATION SEQUENCING ASSAY FOR THE DIAGNOSIS OF INHERITED HEMOLYTIC ANEMIA AH Begtrup, N Dagaonkar, S Chonat, K Giger, A Husami, D Kissell, ... PEDIATRIC BLOOD & CANCER 61, S59-S60, 2014 | | 2014 |