Published in BMC Med Genet on January 13, 2017
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ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndrome. J Hum Genet (2017) 0.82
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Preoperative transarterial embolization using gelatin sponge for hypervascular bone and soft tissue tumors in the pelvis or extremities. Acta Radiol (2015) 0.81
Early manifestations of BPAN in a pediatric patient. Am J Med Genet A (2014) 0.81
ALDH18A1-related cutis laxa syndrome with cyclic vomiting. Brain Dev (2016) 0.81
De novo MEIS2 mutation causes syndromic developmental delay with persistent gastro-esophageal reflux. J Hum Genet (2016) 0.80
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Late-onset epileptic spasms in a female patient with a CASK mutation. Brain Dev (2015) 0.79
Acute myeloid leukemia-associated DNMT3A p.Arg882His mutation in a patient with Tatton-Brown-Rahman overgrowth syndrome as a constitutional mutation. Am J Med Genet A (2016) 0.79
TUBA1A mutation can cause a hydranencephaly-like severe form of cortical dysgenesis. Sci Rep (2015) 0.78
Compound heterozygous GFM2 mutations with Leigh syndrome complicated by arthrogryposis multiplex congenita. J Hum Genet (2015) 0.77
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Homozygosity for moyamoya disease risk allele leads to moyamoya disease with extracranial systemic and pulmonary vasculopathy. Am J Med Genet A (2016) 0.77
Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndrome. Hum Mutat (2017) 0.76
Progressive brain atrophy in Schinzel-Giedion syndrome with a SETBP1 mutation. Eur J Med Genet (2015) 0.76
Tatton-Brown-Rahman syndrome due to 2p23 microdeletion. Am J Med Genet A (2016) 0.76
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. Nat Genet (2017) 0.76
Endocrine status of patients with septo-optic dysplasia: fourteen Japanese cases. Clin Pediatr Endocrinol (2017) 0.75
Endocrinological Characteristics of 25 Japanese Patients with CHARGE Syndrome. Clin Pediatr Endocrinol (2014) 0.75
Visualization of the Spinal Artery by CT During Embolization for Pulmonary Artery Pseudoaneurysm. Pol J Radiol (2016) 0.75
Utility of Electrocardiography (ECG)-Gated Computed Tomography (CT) for Preoperative Evaluations of Thymic Epithelial Tumors. Pol J Radiol (2016) 0.75
Novel compound heterozygous variants in PLK4 identified in a patient with autosomal recessive microcephaly and chorioretinopathy. Eur J Hum Genet (2016) 0.75
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Internal carotid artery blister-like aneurysm caused by Aspergillus - case report. Pol J Radiol (2015) 0.75
Epidermodysplasia verruciformis without progression to squamous cell carcinomas in an elderly man: α-human papillomavirus infection in the evolving verruca. Int J Dermatol (2020) 0.75
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Neurological manifestations of 2q31 microdeletion syndrome. Congenit Anom (Kyoto) (2017) 0.75
The smallest de novo 20q11.2 microdeletion causing intellectual disability and dysmorphic features. Hum Genome Var (2017) 0.75
BCS1L mutations produce Fanconi syndrome with developmental disability. J Hum Genet (2021) 0.75
An intronic GNAO1 variant leading to in-frame insertion cause movement disorder controlled by deep brain stimulation. Neurogenetics (2022) 0.75
Mandibulofacial dysostosis with microcephaly: A case presenting with seizures. Brain Dev (2016) 0.75
Further evidence of a mutation in CDC42 as a cause of a recognizable syndromic form of thrombocytopenia. Am J Med Genet A (2015) 0.75
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Systemic and maxillofacial characteristics of 11 Japanese children with Russell-Silver syndrome. Congenit Anom (Kyoto) (2016) 0.75
A 10q21.3q22.2 microdeletion identified in a patient with severe developmental delay and multiple congenital anomalies including congenital heart defects. Congenit Anom (Kyoto) (2017) 0.75
Beyond the midbrain atrophy: wide spectrum of structural MRI finding in cases of pathologically proven progressive supranuclear palsy. Neuroradiology (2017) 0.75
The prediction models for postoperative overall survival and disease-free survival in patients with breast cancer. Cancer Med (2017) 0.75
Siblings with optic neuropathy and RTN4IP1 mutation. J Hum Genet (2017) 0.75
Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients. Genet Med (2017) 0.75
Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH). PLoS One (2017) 0.75
Persistent Hyperplastic Primary Vitreous with Microphthalmia and Coloboma in a Patient with Okur-Chung Neurodevelopmental Syndrome. Mol Syndromol (2021) 0.75
Role of a heterotrimeric G-protein, Gi2, in the corticogenesis: possible involvement in periventricular nodular heterotopia and intellectual disability. J Neurochem (2016) 0.75
Hirschsprung disease as a yet undescribed phenotype in a patient with ARID1B mutation. Am J Med Genet A (2016) 0.75
Quinidine therapy for West syndrome with KCNTI mutation: A case report. Brain Dev (2016) 0.75
A novel missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria and cleft palate. J Hum Genet (2017) 0.75
Primary microcephaly with anterior predominant pachygyria caused by novel compound heterozygous mutations in ASPM. Pediatr Neurol (2015) 0.75
MED13L haploinsufficiency syndrome: A de novo frameshift and recurrent intragenic deletions due to parental mosaicism. Am J Med Genet A (2017) 0.75
Natural course and characteristics of cutaneous neurofibromas in neurofibromatosis 1. J Dermatol (2017) 0.75
An RyR2 mutation found in a family with a short-coupled variant of torsade de pointes. Int J Cardiol (2016) 0.75
Dinosaur Tail Sign: A Useful Spinal MRI Finding Indicative of Cerebrospinal Fluid Leakage. Headache (2017) 0.75
A Novel SCN5A Mutation Found in a Familial Case of Long QT Syndrome Complicated by Severe Left Ventricular Dysfunction. Can J Cardiol (2016) 0.75
Novel MCA/ID syndrome with ASH1L mutation. Am J Med Genet A (2017) 0.75
Redefining the phenotypic spectrum of de novo heterozygous CDK13 variants: Three patients without cardiac defects. Eur J Med Genet (2017) 0.75
Establishing SON in 21q22.11 as a cause a new syndromic form of intellectual disability: Possible contribution to Braddock-Carey syndrome phenotype. Am J Med Genet A (2016) 0.75
Macrothrombocytopenia and developmental delay with a de novo CDC42 mutation: Yet another locus for thrombocytopenia and developmental delay. Am J Med Genet A (2015) 0.75
Possible genes responsible for developmental delay observed in patients with rare 2q23q24 microdeletion syndrome: literature review and description of an additional patient. Congenit Anom (Kyoto) (2016) 0.75
Patient with a novel purine-rich element binding protein A mutation. Congenit Anom (Kyoto) (2017) 0.75
Eight patients with Williams syndrome and craniosynostosis. Eur J Med Genet (2015) 0.75
Three patients of transthyretin amyloidosis in a Japanese family with amyloidogenic transthyretin Thr49Ser (p.Thr69Ser) variant. Eur J Med Genet (2022) 0.75
Variable severity of cardiovascular phenotypes in patients with an early-onset form of Marfan syndrome harboring FBN1 mutations in exons 24-32. Heart Vessels (2016) 0.75
A novel genetic syndrome with STARD9 mutation and abnormal spindle morphology. Am J Med Genet A (2017) 0.75
Clinical features of SMARCA2 duplication overlap with Coffin-Siris syndrome. Am J Med Genet A (2016) 0.75
Equivalent missense variant in the FOXP2 and FOXP1 transcription factors causes distinct neurodevelopmental disorders. Hum Mutat (2017) 0.75
Protein elongation variant of PUF60: Milder phenotypic end of the Verheij syndrome. Am J Med Genet A (2020) 0.75