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PEHO syndrome caused by compound heterozygote variants in ZNHIT3 gene. Eur J Med Genet 63, 103660 (2020).
Genetic linkage analysis in the age of whole-genome sequencing. Nat Rev Genet 16, 275-84 (2015).
A Patient with Berardinelli-Seip Syndrome, Novel Splicesite Mutation and Concomitant Development of Non-diabetic Polyneuropathy. J Clin Res Pediatr Endocrinol 11, 319-326 (2019).
De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairment. Eur J Hum Genet 27, 1081-1089 (2019).
Homozygous noncanonical splice variant in in two siblings with multiple congenital anomalies and global developmental delay. Cold Spring Harb Mol Case Stud 5, (2019).
Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D. Genet Med 16, 386-394 (2014).
Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis. Genet Med 18, 1158-1162 (2016).
Congenital Titinopathy: Comprehensive characterization and pathogenic insights. Ann Neurol 83, 1105-1124 (2018).
Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization. Am J Hum Genet 99, 1086-1105 (2016).
Variants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndrome. Neurology 87, 1442-1448 (2016).
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy. Am J Hum Genet 104, 1210-1222 (2019).