Autosomal dominant inheritance in a recently described ZMIZ1‐related neurodevelopmental disorder: Case report of siblings and an affected parent K Latchman, M Calder, D Morel, L Rhodes, J Juusola, M Tekin American Journal of Medical Genetics Part A 182 (3), 548-552, 2020 | 11 | 2020 |
Bilateral choanal stenosis in auriculocondylar syndrome caused by a PLCB4 variant LS Peart, J Gonzalez, S Bivona, K Latchman, L Torres, ... American Journal of Medical Genetics Part A 188 (4), 1307-1310, 2022 | 5 | 2022 |
Mitochondrial dysfunction characterized in human induced pluripotent stem cell disease models in MELAS syndrome: a brief summary K Latchman, M Saporta, CT Moraes Mitochondrion, 2023 | 1 | 2023 |
A founder noncoding GALT variant interfering with splicing causes galactosemia K Latchman, J Brown, CJ Sineni, L Ragin‐Dames, S Guo, J Huang, ... Journal of inherited metabolic disease 43 (6), 1199-1204, 2020 | 1 | 2020 |
Spastic Diplegia in a Haitian Girl with Angelman Syndrome K Latchman, M Nieto-Moreno, RL Alberola Journal of Pediatric Genetics 9 (02), 104-108, 2020 | 1 | 2020 |
OPTN: A Possible Genetic Cause of Both CBS and ALS (P9-11.013) M Feldman, M Benatar, ES Lavi, K Latchman, C Singer Neurology 100 (17 Supplement 2), 2023 | | 2023 |
P121: Comparison of diagnostic outcome amongst different ethnic backgrounds in UDN participants at the University of Miami clinical site S Bivona, M Tekin, G Bademci, C Smith, LS Peart, B Johnson, J Gonzalez, ... Genetics in Medicine Open 1 (1), 2023 | | 2023 |
P642: Diagnostic yield of multi-omics approach in Undiagnosed Diseases Network Miami clinical site G Bademci, S Bivona, LS Peart, B Johnson, J Gonzalez, N Borja, ... Genetics in Medicine Open 1 (1), 2023 | | 2023 |
AVPR2-related nephrogenic syndrome of inappropriate antidiuresis in four African American brothers M Saad-Naguib, K Latchman Molecular genetics and metabolism 132, S139, 2021 | | 2021 |