Published in J Hum Genet on June 15, 2017
Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism. J Med Genet (2014) 1.16
Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome. J Hum Genet (2017) 1.16
Identification of a novel LRRK1 mutation in a family with osteosclerotic metaphyseal dysplasia. J Hum Genet (2016) 0.81
Novel and recurrent mutations in WISP3 and an atypical phenotype. Am J Med Genet A (2015) 0.81
Down syndrome in diverse populations. Am J Med Genet A (2017) 0.77
Clinical and mutation profile of multicentric osteolysis nodulosis and arthropathy. Am J Med Genet A (2015) 0.76
Exome Sequencing Identifies a Dominant TNNT3 Mutation in a Large Family with Distal Arthrogryposis. Mol Syndromol (2014) 0.75
A novel sequence variant in SFRP4 causing Pyle disease. J Hum Genet (2017) 0.75
Autosomal recessive spinocerebellar ataxia 20: Report of a new patient and review of literature. Eur J Med Genet (2016) 0.75
Clinical Variability in Familial X-Linked Ohdo Syndrome-Maat-Kievit-Brunner Type with MED12 Mutation. J Pediatr Genet (2017) 0.75
Hyperphosphatasia with Mental Retardation Syndrome Due to a Novel Mutation in PGAP3. J Pediatr Genet (2017) 0.75
Variable presentation of Fraser syndrome in two fetuses and a novel mutation in FRAS1. Congenit Anom (Kyoto) (2017) 0.75
Congenital omphalocele and cleft palate in two fetuses. Congenit Anom (Kyoto) (2016) 0.75
Severe Form of Brachydactyly Type A1 in a Child with a c.298G > A Mutation in IHH Gene. J Pediatr Genet (2017) 0.75
Clinical utility of fetal autopsy and its impact on genetic counseling. Prenat Diagn (2015) 0.75
Novel Mutation in an Indian Patient with Transcobalamin II Deficiency. Indian J Pediatr (2015) 0.75
Co-occurrence of a de novo Williams and 22q11.2 microdeletion syndromes. Am J Med Genet A (2015) 0.75
Cover Image, Volume 173A, Number 3, March 2017. Am J Med Genet A (2017) 0.75
Homozygous c.359del variant in MGME1 is associated with early onset cerebellar ataxia. Eur J Med Genet (2017) 0.75
Occurrence of Synpolydactyly and Omphalocele in a Fetus with a HOXD13 Mutation. J Pediatr Genet (2017) 0.75
Cover Image, Volume 173A, Number 9, September 2017. Am J Med Genet A (2017) 0.75
Noonan syndrome in diverse populations. Am J Med Genet A (2017) 0.75
p.Arg69Trp in RNASEH2C is a founder variant in three Indian families with Aicardi-Goutières syndrome. Am J Med Genet A (2017) 0.75
Homozygosity for a nonsense variant in AIMP2 is associated with a progressive neurodevelopmental disorder with microcephaly, seizures, and spastic quadriparesis. J Hum Genet (2017) 0.75
A novel EDARADD 5'-splice site mutation resulting in activation of two alternate cryptic 5'-splice sites causes autosomal recessive Hypohidrotic Ectodermal Dysplasia. Am J Med Genet A (2016) 0.75
Additional three patients with Smith-McCort dysplasia due to novel RAB33B mutations. Am J Med Genet A (2017) 0.75
Phenotypes and genotypes in individuals with SMC1A variants. Am J Med Genet A (2017) 0.75