| Pitfalls and challenges in genetic test interpretation: an exploration of genetic professionals experience with interpretation of results KE Donohue, C Gooch, A Katz, J Wakelee, A Slavotinek, BR Korf Clinical genetics 99 (5), 638-649, 2021 | 19 | 2021 |
| Genetic testing hearing loss: The challenge of non syndromic mimics C Gooch, N Rudy, RJH Smith, NH Robin International journal of pediatric otorhinolaryngology 150, 110872, 2021 | 8 | 2021 |
| The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlations GM van Woerden, R Senden, C de Konink, RA Trezza, A Baban, ... Human mutation 43 (10), 1377-1395, 2022 | 5 | 2022 |
| Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms M Yabumoto, J Kianmahd, M Singh, MF Palafox, A Wei, K Elliott, ... Molecular genetics & genomic medicine 9 (10), e1809, 2021 | 5 | 2021 |
| Neonatal hydrocephalus: an atypical presentation of malignant infantile osteopetrosis A Lee, S Cortez, P Yang, D Aum, P Singh, C Gooch, M Smyth Child's Nervous System, 1-9, 2021 | 4 | 2021 |
| A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature A Strong, S Rao, S von Hardenberg, D Li, LL Cox, PC Lee, LQ Zhang, ... American Journal of Medical Genetics Part A 191 (5), 1227-1239, 2023 | 3 | 2023 |
| Midterm outcomes of heart transplantation in children with genetic disorders HG Carvajal, C Gooch, TC Merritt, JC Fox, AN Pourney, HD Kumaresan, ... The Annals of Thoracic Surgery 114 (2), 519-525, 2022 | 3 | 2022 |
| Near complete deletion of KMT2D in a college student C Gooch, JP Souder, ML Tedder, J Kerkhof, JA Lee, RJ Louie, ... American Journal of Medical Genetics Part A 188 (5), 1550-1555, 2022 | 3 | 2022 |
| Repeatedly in rhabdomyolysis C Gooch, SJ Dean, L Marzullo Pediatric emergency care 37 (12), e1759-e1760, 2021 | 3 | 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 |
| Inherited cause of in utero digital malformations C Gooch, C Wright, K Nelson, N Robin BMJ Case Reports CP 13 (3), e232020, 2020 | 1 | 2020 |
| Neonatal management of achondroplasia: one hospital's geosocial approach to improve patient outcomes C Gooch, NH Robin, ACE Hurst Current opinion in pediatrics 31 (6), 691-693, 2019 | 1 | 2019 |
| Phenotypic heterogeneity associated with a novel MECOM variant: Mild thrombocytopenia to hydrops fetalis. SL Jaspersen, AV Stacy, MC McGlynn, CF Gooch, DB Wilson, KL Bolton Pediatric Blood & Cancer, e30991-e30991, 2024 | | 2024 |
| Variant reclassification with functional study in a biochemically confirmed LCHAD/TFP deficiency patient S Pajouhanfar, MLD Lasio, A Lee, R Starosta, LRG Hahn, C Gooch, ... Molecular Genetics and Metabolism 141 (4), 108298, 2024 | | 2024 |
| Novel SGCE Mutation in a Patient With Myoclonus-Dystonia: A Case Report E Klinman, C Gooch, JS Perlmutter, AA Davis, B Maiti Neurology: Genetics 10 (2), e200128, 2024 | | 2024 |
| P436: A novel pathogenic variant in NALCN gene in a newborn with CLIFAHDD syndrome B Altintas, N Jensen, SC Tu, S Pajouhanfar, K Fairman, C Gooch Genetics in Medicine Open 2, 2024 | | 2024 |
| ZIC1 variants in neurodevelopmental disorder with and without craniosynostosis L Watts, E Lewis-Orr, I Walton, R Tooze, Y Pei, D Steel, M Kurian, ... EUROPEAN JOURNAL OF HUMAN GENETICS 32, 73-74, 2024 | | 2024 |
| A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature (vol 191A, 1227, 2023) A Strong, S Rao, S von Hardenberg, D Li, LL Cox, PC Lee, LQ Zhang, ... AMERICAN JOURNAL OF MEDICAL GENETICS PART A 191 (9), 2454-2455, 2023 | | 2023 |
| Immuno-skeletal Dysplasia with Neurodevelopmental Abnormalities complicated with Omenn Syndrome in a case of a compound heterozygous variants of exostosin-like 3 gene S Mehta, A Sanosyan, M Cooper, C Gooch, J Bednarski, L Notarangelo, ... Clinical Immunology 250, 109403, 2023 | | 2023 |
| eP168: A de novo variant in AMOTL1 gene in an adult with craniofacial abnormalities and previously unreported congenital diaphragmatic hernia P Lee, C Gooch Genetics in Medicine 24 (3), S102, 2022 | | 2022 |
