Molecular and phenotypic spectrum of Noonan syndrome in Chinese patients

Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants

(2018) Jennifer J Johnston et al.   GENETICS IN MEDICINE

Advances in computer-assisted syndrome recognition by the example of inborn errors of metabolism

(2018) Jean T. Pantel et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Integrating Functional Analysis in the Next-Generation Sequencing Diagnostic Pipeline of RASopathies

(2018) Gordon K. C. Leung et al.   Scientific Reports

Identifying facial phenotypes of genetic disorders using deep learning

(2018) Yaron Gurovich et al.   NATURE MEDICINE

Proband-only medical exome sequencing as a cost-effective first-tier genetic diagnostic test for patients without prior molecular tests and clinical diagnosis in a developing country: the China experience

(2017) Xuyun Hu et al.   GENETICS IN MEDICINE

Use of Exome Sequencing for Infants in Intensive Care Units

(2017) Linyan Meng et al.   JAMA Pediatrics

Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation

(2016) Karim Kouz et al.   GENETICS IN MEDICINE

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Recent advances in RASopathies

(2015) Yoko Aoki et al.   JOURNAL OF HUMAN GENETICS

Rare variants inSOS2andLZTR1are associated with Noonan syndrome

(2015) Guilherme Lopes Yamamoto et al.   JOURNAL OF MEDICAL GENETICS

Cardiovascular disease in Noonan syndrome

(2014) T. W. Prendiville et al.   ARCHIVES OF DISEASE IN CHILDHOOD

Diagnosis of Noonan syndrome and related disorders using target next generation sequencing

(2014) Francesca Romana Lepri et al.   BMC Medical Genetics

Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders

(2014) Hane Lee et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Juvenile myelomonocytic leukaemia and Noonan syndrome

(2014) Marion Strullu et al.   JOURNAL OF MEDICAL GENETICS

Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings

(2013) Ellen A Croonen et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Noonan syndrome

(2013) Amy E Roberts et al.   LANCET

Prenatal features of Noonan syndrome: prevalence and prognostic value

(2011) G. Baldassarre et al.   PRENATAL DIAGNOSIS

The face of Noonan syndrome: Does phenotype predict genotype

(2010) Judith E. Allanson et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Molecular and clinical analysis ofRAF1in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation

(2010) Tomoko Kobayashi et al.   HUMAN MUTATION

Noonan Syndrome: Clinical Features, Diagnosis, and Management Guidelines

(2010) A. A. Romano et al.   PEDIATRICS

Craniosynostosis in patients with Noonan syndrome caused by germline KRAS mutations

(2009) Christian P. Kratz et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

PTPN11analysis for the prenatal diagnosis of Noonan syndrome in fetuses with abnormal ultrasound findings

(2009) KA Lee et al.   CLINICAL GENETICS

Bilateral cochlear implantation in children with Noonan syndrome

(2009) C. Scheiber et al.   INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY

Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair

(2009) Viviana Cordeddu et al.   NATURE GENETICS