Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature

Rare and low-frequency coding variants alter human adult height

(2017) Eirini Marouli et al.   NATURE

Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation

(2017) Jennifer E. Posey et al.   NEW ENGLAND JOURNAL OF MEDICINE

Novel approaches to targeting PDE3 in cardiovascular disease

(2016) Matthew Movsesian   PHARMACOLOGY & THERAPEUTICS

RBBP8syndrome with microcephaly, intellectual disability, short stature and brachydactyly

(2015) Sara Mumtaz et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Nosology and classification of genetic skeletal disorders: 2015 revision

(2015) Luisa Bonafe et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Fifteen-minute consultation: The child with short stature

(2015) Nadia Amin et al.   Archives of Disease in Childhood-Education and Practice Edition

MECHANISMS IN ENDOCRINOLOGY: Novel genetic causes of short stature

(2015) Jan M Wit et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

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

Challenges in the Management of Short Stature

(2015) Jesús Argente   Hormone Research in Paediatrics

HeterozygousNPR2Mutations Cause Disproportionate Short Stature, Similar to Léri-Weill Dyschondrosteosis

(2015) Alfonso Hisado-Oliva et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Idiopathic short stature due to novel heterozygous mutation of the aggrecan gene

(2015) Jose Bernardo Quintos et al.   JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM

Deep phenotyping: The details of disease

(2015) Cathryn M. Delude   NATURE

PDE3A mutations cause autosomal dominant hypertension with brachydactyly

(2015) Philipp G Maass et al.   NATURE GENETICS

Phenotypic and molecular insights into CASK-related disorders in males

(2015) Ute Moog et al.   Orphanet Journal of Rare Diseases

Whole Exome Sequencing to Identify Genetic Causes of Short Stature

(2014) Michael H. Guo et al.   Hormone Research in Paediatrics

MAP4-Dependent Regulation of Microtubule Formation Affects Centrosome, Cilia, and Golgi Architecture as a Central Mechanism in Growth Regulation

(2014) Diana Zahnleiter et al.   HUMAN MUTATION

Defining the role of common variation in the genomic and biological architecture of adult human height

(2014) Andrew R Wood et al.   NATURE GENETICS

Heterozygous Mutations in Natriuretic Peptide Receptor-B (NPR2) Gene as a Cause of Short Stature in Patients Initially Classified as Idiopathic Short Stature

(2013) Gabriela A. Vasques et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Adult Height and Body Mass Index in Relation to Risk of Total Stroke and its Subtypes: The Circulatory Risk in Communities Study

(2013) Yuji Shimizu et al.   Journal of Stroke & Cerebrovascular Diseases

Short Stature in Childhood — Challenges and Choices

(2013) David B. Allen et al.   NEW ENGLAND JOURNAL OF MEDICINE

Rare Copy Number Variants Are a Common Cause of Short Stature

(2013) Diana Zahnleiter et al.   PLoS Genetics

KDM6A Point Mutations Cause Kabuki Syndrome

(2012) Noriko Miyake et al.   HUMAN MUTATION

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

(2012) Joep de Ligt et al.   NEW ENGLAND JOURNAL OF MEDICINE

Deletion of KDM6A, a Histone Demethylase Interacting with MLL2, in Three Patients with Kabuki Syndrome

(2011) Damien Lederer et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Height and cancer incidence in the Million Women Study: prospective cohort, and meta-analysis of prospective studies of height and total cancer risk

(2011) Jane Green et al.   LANCET ONCOLOGY

Growth Hormone: The Expansion of Available Products and Indications

(2011) Sherry L. Franklin et al.   PEDIATRIC CLINICS OF NORTH AMERICA

Therapy of growth disorders

(2011) Omar Ali et al.   Current Opinion in Endocrinology Diabetes and Obesity

ACMG practice guideline: Genetic evaluation of short stature

(2009) Laurie H Seaver et al.   GENETICS IN MEDICINE

A Recessive Skeletal Dysplasia, SEMD Aggrecan Type, Results from a Missense Mutation Affecting the C-Type Lectin Domain of Aggrecan

(2008) Stuart W. Tompson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Consensus Statement on the Diagnosis and Treatment of Children with Idiopathic Short Stature: A Summary of the Growth Hormone Research Society, the Lawson Wilkins Pediatric Endocrine Society, and the European Society for Paediatric Endocrinology Workshop

(2008) P. Cohen et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Mutations in the Pericentrin (PCNT) Gene Cause Primordial Dwarfism

(2008) A. Rauch et al.   SCIENCE