Published in Nat Genet on May 16, 2016
Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms. Blood (2017) 0.87
Myeloid neoplasms with germline DDX41 mutation. Int J Hematol (2017) 0.79
From Bioinactive ACTH to ACTH Antagonist: The Clinical Perspective. Front Endocrinol (Lausanne) (2017) 0.75
An interaction domain in human SAMD9 is essential for myxoma virus host-range determinant M062 antagonism of host anti-viral function. Virology (2017) 0.75
Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humans. J Clin Invest (2017) 0.75
Germline SAMD9 mutation in siblings with monosomy 7 and myelodysplastic syndrome. Leukemia (2017) 0.75
Genetic predisposition to hematologic malignancies: management and surveillance. Blood (2017) 0.75
Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics (2009) 190.94
The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res (2010) 97.51
ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res (2010) 43.51
New insights into the prognostic impact of the karyotype in MDS and correlation with subtypes: evidence from a core dataset of 2124 patients. Blood (2007) 5.80
Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2. Nat Genet (2005) 2.83
Mutant WD-repeat protein in triple-A syndrome. Nat Genet (2000) 2.54
Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism. Nature (1994) 2.49
Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome. Nat Genet (2012) 1.61
A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosis. Am J Hum Genet (2006) 1.57
Familial glucocorticoid deficiency associated with point mutation in the adrenocorticotropin receptor. Lancet (1993) 1.56
MCM4 mutation causes adrenal failure, short stature, and natural killer cell deficiency in humans. J Clin Invest (2012) 1.39
Partial MCM4 deficiency in patients with growth retardation, adrenal insufficiency, and natural killer cell deficiency. J Clin Invest (2012) 1.35
Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency. Nat Genet (2012) 1.34
Normophosphatemic familial tumoral calcinosis is caused by deleterious mutations in SAMD9, encoding a TNF-alpha responsive protein. J Invest Dermatol (2007) 1.25
Aneuploidy as a mechanism for stress-induced liver adaptation. J Clin Invest (2012) 1.23
Sterile alpha motif containing domain 9 is involved in death signaling of malignant glioma treated with inactivated Sendai virus particle (HVJ-E) or type I interferon. Int J Cancer (2010) 1.16
Evaluation of recurring cytogenetic abnormalities in the treatment of myelodysplastic syndromes. Leuk Res (2006) 1.16
Haploinsufficiency of SAMD9L, an endosome fusion facilitator, causes myeloid malignancies in mice mimicking human diseases with monosomy 7. Cancer Cell (2013) 1.14
Myelodysplastic syndrome in children and adolescents. Semin Hematol (2008) 0.99
Thioredoxin Reductase 2 (TXNRD2) mutation associated with familial glucocorticoid deficiency (FGD). J Clin Endocrinol Metab (2014) 0.96
Differential bone marrow aspirate DNA yields from commercial extraction kits. Leukemia (2002) 0.88
Radiological evolution in IMAGe association: a case report. Am J Med Genet A (2008) 0.87
Monosomy 7 syndrome associated with congenital adrenal hypoplasia and male pseudohermaphroditism. Obstet Gynecol (1996) 0.82
Acquired monosomy 7 myelodysplastic syndrome in a child with clinical features suggestive of dyskeratosis congenita and IMAGe association. Pediatr Blood Cancer (2010) 0.82
A novel mutation in SOX2 causes hypogonadotropic hypogonadism with mild ocular malformation. Horm Res Paediatr (2014) 0.82
Testicular dysgenesis without adrenal insufficiency in a 46,XY patient with a heterozygous inactive mutation of steroidogenic factor-1. J Clin Endocrinol Metab (2004) 1.63
Epimutations of the IG-DMR and the MEG3-DMR at the 14q32.2 imprinted region in two patients with Silver-Russell Syndrome-compatible phenotype. Eur J Hum Genet (2014) 1.11
Somatic Mutations in the MTOR gene cause focal cortical dysplasia type IIb. Ann Neurol (2015) 1.10
The somatic GNAQ mutation c.548G>A (p.R183Q) is consistently found in Sturge-Weber syndrome. J Hum Genet (2014) 1.05
Human genetic variation database, a reference database of genetic variations in the Japanese population. J Hum Genet (2016) 1.00
TSHR mutations as a cause of congenital hypothyroidism in Japan: a population-based genetic epidemiology study. J Clin Endocrinol Metab (2009) 1.00
A novel homozygous YARS2 mutation causes severe myopathy, lactic acidosis, and sideroblastic anemia 2. J Hum Genet (2014) 0.94
Towards an international pediatric liver tumor consensus classification: proceedings of the Los Angeles COG liver tumors symposium. Mod Pathol (2013) 0.94
Skeletal Deformity Associated with SHOX Deficiency. Clin Pediatr Endocrinol (2014) 0.93
A case of autism spectrum disorder arising from a de novo missense mutation in POGZ. J Hum Genet (2015) 0.92
GATA3 abnormalities in six patients with HDR syndrome. Endocr J (2011) 0.92
Novel FIG4 mutations in Yunis-Varon syndrome. J Hum Genet (2013) 0.91
Deep sequencing detects very-low-grade somatic mosaicism in the unaffected mother of siblings with nemaline myopathy. Neuromuscul Disord (2014) 0.91
De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing. Sci Rep (2015) 0.91
Detecting copy-number variations in whole-exome sequencing data using the eXome Hidden Markov Model: an 'exome-first' approach. J Hum Genet (2015) 0.89
Steeper increases in body mass index during childhood correlate with blood pressure elevation in adolescence: a long-term follow-up study in a Japanese community. Hypertens Res (2013) 0.89
STAT3-dependent reactive astrogliosis in the spinal dorsal horn underlies chronic itch. Nat Med (2015) 0.88
A Case of a Preterm Infant with 21-Hydroxylase Deficiency: Implications of the Biochemical Diagnosis with Urinary Pregnanetriolone by Gas Chromatography/Mass Spectrometry in Selected Ion Monitoring (GCMS-SIM). Clin Pediatr Endocrinol (2004) 0.88
Ultra-sensitive droplet digital PCR for detecting a low-prevalence somatic GNAQ mutation in Sturge-Weber syndrome. Sci Rep (2016) 0.87
Radiological evolution in IMAGe association: a case report. Am J Med Genet A (2008) 0.87
Various types of LRP5 mutations in four patients with osteoporosis-pseudoglioma syndrome: identification of a 7.2-kb microdeletion using oligonucleotide tiling microarray. Am J Med Genet A (2010) 0.87
De novo GABRA1 mutations in Ohtahara and West syndromes. Epilepsia (2016) 0.86
Kawasaki disease-specific molecules in the sera are linked to microbe-associated molecular patterns in the biofilms. PLoS One (2014) 0.86
Identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia. J Hum Genet (2017) 0.85
Novel overgrowth syndrome phenotype due to recurrent de novo PDGFRB mutation. J Pediatr (2014) 0.85
A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation. J Hum Genet (2014) 0.85
Significance of aberrant (cytoplasmic/nuclear) expression of beta-catenin in pancreatoblastoma. J Pathol (2003) 0.85
Identical NR5A1 Missense Mutations in Two Unrelated 46,XX Individuals with Testicular Tissues. Hum Mutat (2016) 0.84
Precise detection of chromosomal translocation or inversion breakpoints by whole-genome sequencing. J Hum Genet (2014) 0.84
The molecular and phenotypic spectrum of IQSEC2-related epilepsy. Epilepsia (2016) 0.84
Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay. Eur J Hum Genet (2015) 0.83
Manipulating cell fate in the cochlea: a feasible therapy for hearing loss. Trends Neurosci (2015) 0.83
Functional Recovery from Neural Stem/Progenitor Cell Transplantation Combined with Treadmill Training in Mice with Chronic Spinal Cord Injury. Sci Rep (2016) 0.83
Whole-exome sequencing and neurite outgrowth analysis in autism spectrum disorder. J Hum Genet (2015) 0.83
Genome-wide multilocus imprinting disturbance analysis in Temple syndrome and Kagami-Ogata syndrome. Genet Med (2016) 0.82
ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndrome. J Hum Genet (2017) 0.82
MIF Maintains the Tumorigenic Capacity of Brain Tumor-Initiating Cells by Directly Inhibiting p53. Cancer Res (2016) 0.82
Novel and recurrent XYLT1 mutations in two Turkish families with Desbuquois dysplasia, type 2. J Hum Genet (2016) 0.82
Backdoor pathway for dihydrotestosterone biosynthesis: implications for normal and abnormal human sex development. Dev Dyn (2012) 0.82
Novel compound heterozygous LIAS mutations cause glycine encephalopathy. J Hum Genet (2015) 0.82
The first Japanese case of leukodystrophy with ovarian failure arising from novel compound heterozygous AARS2 mutations. J Hum Genet (2016) 0.82
Silver-Russell syndrome without body asymmetry in three patients with duplications of maternally derived chromosome 11p15 involving CDKN1C. J Hum Genet (2014) 0.82
Mutations in the glutaminyl-tRNA synthetase gene cause early-onset epileptic encephalopathy. J Hum Genet (2014) 0.81
WDR45 mutations in three male patients with West syndrome. J Hum Genet (2016) 0.81
De novo missense mutations in NALCN cause developmental and intellectual impairment with hypotonia. J Hum Genet (2016) 0.81
Serum neutrophil gelatinase-associated lipocalin as a predictor of the development of bronchopulmonary dysplasia in preterm infants. Early Hum Dev (2013) 0.81
Compound heterozygous BRAT1 mutations cause familial Ohtahara syndrome with hypertonia and microcephaly. J Hum Genet (2014) 0.81
A novel homozygous mutation in HSF4 causing autosomal recessive congenital cataract. J Hum Genet (2015) 0.81
Guidelines for diagnosis and treatment of 21-hydroxylase deficiency (2014 revision). Clin Pediatr Endocrinol (2015) 0.81
Identification of biallelic LRRK1 mutations in osteosclerotic metaphyseal dysplasia and evidence for locus heterogeneity. J Med Genet (2016) 0.81
Combined pituitary hormone deficiency with unique pituitary dysplasia and morning glory syndrome related to a heterozygous PROKR2 mutation. Clin Pediatr Endocrinol (2015) 0.81
Homozygous p.V116* mutation in C12orf65 results in Leigh syndrome. J Neurol Neurosurg Psychiatry (2015) 0.81
Axial spondylometaphyseal dysplasia is also caused by NEK1 mutations. J Hum Genet (2017) 0.81
Identification of a novel LRRK1 mutation in a family with osteosclerotic metaphyseal dysplasia. J Hum Genet (2016) 0.81
Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndrome. J Med Genet (2015) 0.80
SPTAN1 encephalopathy: distinct phenotypes and genotypes. J Hum Genet (2015) 0.80
A de novo TUBB4A mutation in a patient with hypomyelination mimicking Pelizaeus-Merzbacher disease. Brain Dev (2014) 0.80
Tachyarrhythmia-induced cerebral sinovenous thrombosis in a neonate without cardiac malformation. Pediatr Neonatol (2014) 0.80
Rare pseudoautosomal copy-number variations involving SHOX and/or its flanking regions in individuals with and without short stature. J Hum Genet (2015) 0.80
Whole exome sequencing identified a novel COL2A1 mutation that causes mild Spondylo-epiphyseal dysplasia mimicking autosomal dominant brachyolmia. Am J Med Genet A (2015) 0.80
Periodic Epileptiform Discharges in Children With Advanced Stages of Progressive Myoclonic Epilepsy. Clin EEG Neurosci (2015) 0.80
A cross-sectional growth reference and chart of stretched penile length for Japanese boys aged 0-7 years. Horm Res Paediatr (2014) 0.79
Causative novel PNKP mutations and concomitant PCDH15 mutations in a patient with microcephaly with early-onset seizures and developmental delay syndrome and hearing loss. J Hum Genet (2014) 0.79
Systematic molecular analyses of SHOX in Japanese patients with idiopathic short stature and Leri-Weill dyschondrosteosis. J Hum Genet (2016) 0.79
Novel DDR2 mutation identified by whole exome sequencing in a Moroccan patient with spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type. Am J Med Genet A (2015) 0.79
Discordant genotype-phenotype correlation in familial hyperaldosteronism type III with KCNJ5 gene mutation: a patient report and review of the literature. Horm Res Paediatr (2014) 0.79