| Protective nutrients and functional foods for the gastrointestinal tract C Duggan, J Gannon, WA Walker The American journal of clinical nutrition 75 (5), 789-808, 2002 | 514 | 2002 |
| Diagnostic gene sequencing panels: from design to report—a technical standard of the American College of Medical Genetics and Genomics (ACMG) L Bean, B Funke, CM Carlston, JL Gannon, S Kantarci, BL Krock, S Zhang, ... Genetics in Medicine 22 (3), 453-461, 2020 | 142 | 2020 |
| The expression pattern of the Distal-less homeo☐-containing gene Dlx-5 in the developing chick limb bud suggests its involvement in apical ectodermal ridge activity, pattern … D Ferrari, L Sumoy, J Gannon, H Sun, AMC Brown, WB Upholt, ... Mechanisms of development 52 (2-3), 257-264, 1995 | 127 | 1995 |
| Systematic evidence-based review: outcomes from exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability J Malinowski, DT Miller, L Demmer, J Gannon, EM Pereira, MC Schroeder, ... Genetics in Medicine 22 (6), 986-1004, 2020 | 87 | 2020 |
| Genomic answers for children: Dynamic analyses of> 1000 pediatric rare disease genomes ASA Cohen, EG Farrow, AT Abdelmoity, JT Alaimo, SM Amudhavalli, ... Genetics in Medicine 24 (6), 1336-1348, 2022 | 75 | 2022 |
| ACMG laboratory quality assurance committee, diagnostic gene sequencing panels: from design to report-a technical standard of the American College of medical genetics and … LJH Bean, B Funke, CM Carlston, JL Gannon, S Kantarci, BL Krock, ... Med 22, 453-461, 2020 | 17 | 2020 |
| Points to consider when assessing relationships (or suspecting misattributed relationships) during family-based clinical genomic testing: a statement of the American College of … JL Deignan, E Chao, JL Gannon, HT Greely, KDF Hagman, R Mao, ... Genetics in Medicine 22 (8), 1285-1287, 2020 | 14 | 2020 |
| on behalf of the ACMG Professional Practice and Guidelines Committee.(2020). Systematic evidence-based review: Outcomes from exome and genome sequencing for pediatric patients … J Malinowski, DT Miller, L Demmer, J Gannon, EM Pereira, MC Schroeder, ... Genetics in Medicine 22, 986-1004, 0 | 12 | |
| Biallelic BORCS8 variants cause an infantile-onset neurodegenerative disorder with altered lysosome dynamics R De Pace, R Maroofian, A Paimboeuf, M Zamani, MS Zaki, S Sadeghian, ... Brain 147 (5), 1751-1767, 2024 | 9 | 2024 |
| Insurance denials and diagnostic rates in a pediatric genomic research cohort TN Zion, CD Berrios, ASA Cohen, L Bartik, LA Cross, KL Engleman, ... Genetics in Medicine 25 (5), 100020, 2023 | 8 | 2023 |
| The effect of bony parameters on the pediatric knee: normal versus anterior cruciate ligament injury versus tibial spine avulsion fracture KA Shaw, BS Dunoski, N Mardis, D Pacicca The Surgery Journal 2 (04), e151-e155, 2016 | 8 | 2016 |
| Delayed diagnosis of holocarboxylase synthetase deficiency in three patients with prominent skin findings M Cadieux‐Dion, J Gannon, B Newell, AJ Nopper, J Jenkins, B Heese, ... Pediatric dermatology 38 (3), 655-658, 2021 | 5 | 2021 |
| (1109) A Metabolic, Mechanical, Multi-Organ Masterpiece: Durable Device Support Bridge to Heart-Liver Transplantation in Propionic Acidemia RM Juhl, BF Birnbaum, AP Barnes, W Gibson, B Mullapudi, B Lang, ... The Journal of Heart and Lung Transplantation 42 (4), S477, 2023 | 1 | 2023 |
| Characterization of Factors Associated With Death in Deceased Patients With Mitochondrial Disorders: A Multicenter Cross-Sectional Survey A Ivaniuk, IA Anselm, A Bowen, BH Cohen, FT Eminoglu, J Estrella, ... Neurology 104 (4), e209779, 2025 | | 2025 |
| Hypoglycemia in a 4-day-old Girl EC Loughman, J Gannon, J Sharma, CR Nitkin Pediatrics in Review 45 (3), 158-161, 2024 | | 2024 |
| DISEASE-RELATED BIOMARKER LEVELS IN PROPIONIC AND METHYLMALONIC ACIDEMIA PATIENTS ENROLLED IN A PHASE 2 STUDY K Chapman, J Gannon, J Vockley, C Prada, M Waller, A Armstrong, ... Molecular Genetics and Metabolism 138 (3), 107397, 2023 | | 2023 |
| A Metabolic, Mechanical, Multi-Organ Masterpiece: Dural Device Support Bridge to En-Bloc Heart-Liver Transplantation in Propionic Acidemia R Juhl, B Birnbaum, AP Barnes, W Gibson, B Mullapudi, B Lang, ... | | 2023 |
| Diagnostic outcomes from a combined Pediatric Dermatology‐Genetics clinic MC Maher, AJ Nopper, BD Newell, E Fleming, JL Gannon, D Zhou, ... Pediatric dermatology 39 (4), 587-589, 2022 | | 2022 |
| Improving the performance of newborn screening for mucopolysaccharidosis type II with second tier biomarker testing D Peck, A White, G Pino, A Studinski, M Strenk, R Gadea, J Gannon, ... Molecular Genetics and Metabolism 132, S23-S23, 2021 | | 2021 |
| The role of biomarkers for the follow up of infants with positive newborn screening results for Fabry disease G Pino, A Studinski, A White, D Peck, S Minnich, R Gadea, M Strenk, ... Molecular Genetics and Metabolism 132, S20-S20, 2021 | | 2021 |
