| Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders B Sadikovic, MA Levy, J Kerkhof, E Aref-Eshghi, L Schenkel, A Stuart, ... Genetics in Medicine 23 (6), 1065-1074, 2021 | 122 | 2021 |
| Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine V Faundes, MD Jennings, S Crilly, S Legraie, SE Withers, S Cuvertino, ... Nature communications 12 (1), 833, 2021 | 43 | 2021 |
| Variable cardiovascular phenotypes associated with SMAD2 pathogenic variants JL Granadillo, WK Chung, L Hecht, N Corsten‐Janssen, D Wegner, ... Human Mutation 39 (12), 1875-1884, 2018 | 29 | 2018 |
| Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations LH Rodan, RC Spillmann, HT Kurata, SM Lamothe, J Maghera, RA Jamra, ... Genetics in medicine 23 (10), 1922-1932, 2021 | 26 | 2021 |
| Pathogenic variants in TNRC6B cause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including … JL Granadillo, APA Stegmann, H Guo, K Xia, B Angle, K Bontempo, ... Journal of medical genetics 57 (10), 717-724, 2020 | 19 | 2020 |
| De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy S Singh, A Gupta, M Zech, AN Sigafoos, KJ Clark, Y Dincer, M Wagner, ... Genetics in medicine 22 (8), 1413-1417, 2020 | 15 | 2020 |
| Discovery of a novel CHD7 CHARGE syndrome variant by integrated omics analyses JL Granadillo, DJ Wegner, AJ Paul, M Willing, K Sisco, ML Tedder, ... American Journal of Medical Genetics Part A 185 (2), 544-548, 2021 | 11 | 2021 |
| Rare cause of xanthinuria: a pediatric case of molybdenum cofactor deficiency B EJ Lee, R Dandamudi, JL Granadillo, DK Grange, A Kakajiwala CEN case reports 10, 378-382, 2021 | 9 | 2021 |
| Early onset and severe clinical course associated with the m. 5540G> A mutation in MT-TW JL Granadillo, T Moss, RA Lewis, EG Austin, H Kelfer, J Wang, LJC Wong, ... Molecular genetics and metabolism reports 1, 61-65, 2014 | 5 | 2014 |
| PTPN4 germline variants result in aberrant neurodevelopment and growth JJ Chmielewska, D Burkardt, JL Granadillo, R Slaugh, S Morgan, ... Human Genetics and Genomics Advances 2 (3), 2021 | 3 | 2021 |
| Placental pathology in an unsuspected case of mucolipidosis type II with secondary hyperparathyroidism in a premature infant P Wongkittichote, GM Upchurch, LP Dehner, T Wood, JL Granadillo Molecular Genetics and Metabolism Reports 27, 100747, 2021 | 3 | 2021 |
| Heterozygous HMGB1 loss‐of‐function variants are associated with developmental delay and microcephaly K Uguen, K Krysiak, S Audebert‐Bellanger, S Redon, C Benech, ... Clinical genetics 100 (4), 386-395, 2021 | 2 | 2021 |
| MYO5B Pathogenic Variants Found to Cause Intestinal Symptoms Without Microvillus Inclusion Disease in a Child Who Previously Underwent Liver Transplantation for PFIC-like … C Jarasvaraparn, M He, JL Granadillo, S Kulkarni, J Stoll, K Liss Journal of pediatric gastroenterology and nutrition 72 (1), e22-e24, 2021 | 2 | 2021 |
| MFSD7c functions as a transporter of choline at the blood–brain barrier XTA Nguyen, TNU Le, TQ Nguyen, H Thi Thuy Ha, A Artati, NCP Leong, ... Cell Research, 1-13, 2024 | 1 | 2024 |
| De novo variants in GATAD2A in individuals with a neurodevelopmental disorder: GATAD2A-related neurodevelopmental disorder EA Werren, A Guxholli, N Jones, M Wagner, I Hannibal, JL Granadillo, ... Human Genetics and Genomics Advances 4 (3), 2023 | 1 | 2023 |
| Infantile-onset Pompe disease complicated by sickle cell anemia: Case report and management considerations RT Starosta, YCC Hou, K Leestma, P Singh, L Viehl, L Manwaring, ... Frontiers in Pediatrics 10, 944178, 2022 | 1 | 2022 |
| Detailed Clinical and Functional Studies of New MTOR Variants in Smith-Kingsmore Syndrome Reveal Deficits of Circadian and Sleep Homeostasis AC Liu, Y Shen, D Roman, H He, CR Serbinski, L Aschbacher-Smith, ... medRxiv, 2022.02. 15.22269076, 2022 | 1 | 2022 |
| Treatment dilemmas in an individual diagnosed with infantile-onset Pompe disease and sickle-cell anemia RT Starosta, P Singh, HT Nguyen, K Leestma, L Manwaring, L Peterman, ... Molecular Genetics and Metabolism 135 (2), S116, 2022 | 1 | 2022 |
| Current approaches to genetic testing in pediatric disease K Belhassan, JL Granadillo Biochemical and Molecular Basis of Pediatric Disease, 15-36, 2021 | 1 | 2021 |
| De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features X Pan, AM Tao, S Lu, M Ma, SB Hannan, R Slaugh, SD Williams, ... The American Journal of Human Genetics 111 (4), 742-760, 2024 | | 2024 |
