Published in Hum Genome Var on October 09, 2014
Novel SLC16A2 mutations in patients with Allan-Herndon-Dudley syndrome. Intractable Rare Dis Res (2016) 0.75
Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation. Lancet (2004) 2.98
A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene. Am J Hum Genet (2003) 2.80
The monocarboxylate transporter 8 linked to human psychomotor retardation is highly expressed in thyroid hormone-sensitive neuron populations. Endocrinology (2005) 2.14
Pelizaeus-Merzbacher-Like disease presentation of MCT8 mutated male subjects. Ann Neurol (2009) 2.12
Genetics and phenomics of thyroid hormone transport by MCT8. Mol Cell Endocrinol (2010) 1.25
Extended clinical phenotype, endocrine investigations and functional studies of a loss-of-function mutation A150V in the thyroid hormone specific transporter MCT8. Eur J Endocrinol (2005) 1.19
White matter abnormalities and dystonic motor disorder associated with mutations in the SLC16A2 gene. Dev Med Child Neurol (2009) 1.05
Genotype-phenotype relationship in patients with mutations in thyroid hormone transporter MCT8. Endocrinology (2008) 1.02
Functional analysis of monocarboxylate transporter 8 mutations identified in patients with X-linked psychomotor retardation and elevated serum triiodothyronine. J Clin Endocrinol Metab (2007) 0.98
A novel monocarboxylate transporter 8 gene mutation as a cause of severe neonatal hypotonia and developmental delay. Pediatrics (2008) 0.95
Clinical impacts of genomic copy number gains at Xq28. Hum Genome Var (2014) 0.85
A de novo microdeletion in a patient with inner ear abnormalities suggests that the 10q26.13 region contains the responsible gene. Hum Genome Var (2016) 0.85
A novel MED12 mutation associated with non-specific X-linked intellectual disability. Hum Genome Var (2015) 0.83
Challenges in detecting genomic copy number aberrations using next-generation sequencing data and the eXome Hidden Markov Model: a clinical exome-first diagnostic approach. Hum Genome Var (2016) 0.83
Novel PLA2G6 mutations associated with an exonic deletion due to non-allelic homologous recombination in a patient with infantile neuroaxonal dystrophy. Hum Genome Var (2015) 0.78
MLC1 mutations in Japanese patients with megalencephalic leukoencephalopathy with subcortical cysts. Hum Genome Var (2014) 0.78
Recurrent occurrences of CDKL5 mutations in patients with epileptic encephalopathy. Hum Genome Var (2015) 0.76
A novel KCNT1 mutation in a Japanese patient with epilepsy of infancy with migrating focal seizures. Hum Genome Var (2014) 0.75
A novel PLP1 mutation F240L identified in a patient with connatal type Pelizaeus-Merzbacher disease. Hum Genome Var (2017) 0.75
Loss-of-function mutations and global rearrangements in GPC3 in patients with Simpson-Golabi-Behmel syndrome. Hum Genome Var (2016) 0.75
A 12p13 GRIN2B deletion is associated with developmental delay and macrocephaly. Hum Genome Var (2016) 0.75
A 7q31.33q32.1 microdeletion including LRRC4 and GRM8 is associated with severe intellectual disability and characteristics of autism. Hum Genome Var (2017) 0.75
Characteristics of rare and private deletions identified in phenotypically normal individuals. Hum Genome Var (2017) 0.75
A 15q14 microdeletion involving MEIS2 identified in a patient with autism spectrum disorder. Hum Genome Var (2017) 0.75
A novel TUBB4A mutation G96R identified in a patient with hypomyelinating leukodystrophy onset beyond adolescence. Hum Genome Var (2017) 0.75