Next generation sequencing panel based on single molecule molecular inversion probes for detecting genetic variants in children with hypopituitarism

Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases

(2017) Holly A F Stessman et al.   NATURE GENETICS

BRCA Testing by Single-Molecule Molecular Inversion Probes

(2016) Kornelia Neveling et al.   CLINICAL CHEMISTRY

Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era

(2016) Qing Fang et al.   ENDOCRINE REVIEWS

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

The ExAC browser: displaying reference data information from over 60 000 exomes

(2016) Konrad J. Karczewski et al.   NUCLEIC ACIDS RESEARCH

De novo genic mutations among a Chinese autism spectrum disorder cohort

(2016) Tianyun Wang et al.   Nature Communications

PROP1 triggers epithelial-mesenchymal transition-like process in pituitary stem cells

(2016) María Inés Pérez Millán et al.   eLife

Frequency of genetic defects in combined pituitary hormone deficiency: a systematic review and analysis of a multicentre Italian cohort

(2015) Francesca De Rienzo et al.   CLINICAL ENDOCRINOLOGY

MECHANISMS IN ENDOCRINOLOGY: Novel genetic causes of short stature

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

Genesis of two most prevalent PROP1 gene variants causing combined pituitary hormone deficiency in 21 populations

(2015) Petra Dusatkova et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

Hypogonadotropic Hypogonadism in Infants with Congenital Hypopituitarism: A Challenge to Diagnose at an Early Stage

(2015) Débora Braslavsky et al.   Hormone Research in Paediatrics

Missense mutations inTENM4, a regulator of axon guidance and central myelination, cause essential tremor

(2015) Hyun Hor et al.   HUMAN MOLECULAR GENETICS

Functional characterization of a humanPOU1F1mutation associated with isolated growth hormone deficiency: a novel etiology for IGHD

(2015) Marie-Laure Sobrier et al.   HUMAN MOLECULAR GENETICS

Role of GLI2 in hypopituitarism phenotype

(2015) I. J. P. Arnhold et al.   JOURNAL OF MOLECULAR ENDOCRINOLOGY

ClinVar: public archive of interpretations of clinically relevant variants

(2015) Melissa J. Landrum et al.   NUCLEIC ACIDS RESEARCH

Genomic Insights into the Ancestry and Demographic History of South America

(2015) Julian R. Homburger et al.   PLoS Genetics

Novel Mutations in the GH Gene (GH1) Uncover Putative Splicing Regulatory Elements

(2014) Deepak Babu et al.   ENDOCRINOLOGY

Deletion of OTX2 in neural ectoderm delays anterior pituitary development

(2014) Amanda H. Mortensen et al.   HUMAN MOLECULAR GENETICS

Integrating human sequence data sets provides a resource of benchmark SNP and indel genotype calls

(2014) Justin M Zook et al.   NATURE BIOTECHNOLOGY

MutationTaster2: mutation prediction for the deep-sequencing age

(2014) Jana Marie Schwarz et al.   NATURE METHODS

microDuMIP: target-enrichment technique for microarray-based duplex molecular inversion probes

(2014) Jung-Ki Yoon et al.   NUCLEIC ACIDS RESEARCH

Frequent development of combined pituitary hormone deficiency in patients initially diagnosed as isolated growth hormone deficiency: a long term follow-up of patients from a single center

(2014) Aline P. Otto et al.   Pituitary

Development of additional pituitary hormone deficiencies in pediatric patients originally diagnosed with idiopathic isolated GH deficiency

(2013) Werner F Blum et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Single molecule molecular inversion probes for targeted, high-accuracy detection of low-frequency variation

(2013) J. B. Hiatt et al.   GENOME RESEARCH

Functional Characterization of a Heterozygous GLI2 Missense Mutation in Patients With Multiple Pituitary Hormone Deficiency

(2013) G. M. C. Flemming et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

High Prevalence ofPROP1Defects in Lithuania: Phenotypic Findings in an Ethnically Homogenous Cohort of Patients With Multiple Pituitary Hormone Deficiency

(2013) Ruta Navardauskaite et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Genetic Overlap in Kallmann Syndrome, Combined Pituitary Hormone Deficiency, and Septo-Optic Dysplasia

(2012) Taneli Raivio et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Patterns and rates of exonic de novo mutations in autism spectrum disorders

(2012) Benjamin M. Neale et al.   NATURE

Gradual Loss of ACTH Due to a Novel Mutation in LHX4: Comprehensive Mutation Screening in Japanese Patients with Congenital Hypopituitarism

(2012) Masaki Takagi et al.   PLoS One

Using Drosophila melanogaster as a Model for Genotoxic Chemical Mutational Studies with a New Program, SnpSift

(2012) Pablo Cingolani et al.   Frontiers in Genetics

Genetics of GHRH, GHRH-receptor, GH and GH-receptor: Its impact on pharmacogenetics

(2011) Primus-E. Mullis   BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM

Two novel mutations in the POU1F1 gene generate null alleles through different mechanisms leading to combined pituitary hormone deficiency

(2011) J.P. Turton et al.   CLINICAL ENDOCRINOLOGY

Novel inactivating mutations in the GH secretagogue receptor gene in patients with constitutional delay of growth and puberty

(2011) Patricia N Pugliese-Pires et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

17α-Hydroxyprogesterone and Cortisol Serum Levels in Neonates and Young Children: Influence of Age, Gestational Age, Gender and Methodological Procedures

(2011) M.G. Ballerini et al.   JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

Candidate genes for panhypopituitarism identified by gene expression profiling

(2011) Amanda H. Mortensen et al.   PHYSIOLOGICAL GENOMICS

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

PROP1, HESX1, POU1F1, LHX3 and LHX4 Mutation and Deletion Screening and GH1 P89L and IVS3+1/+2 Mutation Screening in a Dutch Nationwide Cohort of Patients with Combined Pituitary Hormone Deficiency

(2010) Laura C.G. de Graaff et al.   Hormone Research in Paediatrics

Novel Heterozygous NonsenseGLI2Mutations in Patients with Hypopituitarism and Ectopic Posterior Pituitary Lobe without Holoprosencephaly

(2010) Marcela M. França et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Mutation and Gene Copy Number Analyses of Six Pituitary Transcription Factor Genes in 71 Patients with Combined Pituitary Hormone Deficiency: Identification of a Single Patient withLHX4Deletion

(2010) Sumito Dateki et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Identification and Functional Analysis of Novel Human Growth Hormone Secretagogue Receptor (GHSR) Gene Mutations in Japanese Subjects with Short Stature

(2010) Hiroshi Inoue et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Genetic causes and treatment of isolated growth hormone deficiency—an update

(2010) Kyriaki S. Alatzoglou et al.   Nature Reviews Endocrinology

Isolated growth hormone deficiency type II caused by a point mutation that alters both splice site strength and splicing enhancer function

(2009) N Shariat et al.   CLINICAL GENETICS

Recessive Isolated Growth Hormone Deficiency and Mutations in the Ghrelin Receptor

(2009) Jacques Pantel et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Expanding the Spectrum of Mutations inGH1andGHRHR: Genetic Screening in a Large Cohort of Patients with Congenital Isolated Growth Hormone Deficiency

(2009) Kyriaki S. Alatzoglou et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Massively parallel exon capture and library-free resequencing across 16 genomes

(2009) Emily H Turner et al.   NATURE METHODS

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Developmental disorders of the hypothalamus and pituitary gland associated with congenital hypopituitarism

(2008) Ameeta Mehta et al.   BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM

A Novel Dominant Negative Mutation of OTX2 Associated with Combined Pituitary Hormone Deficiency

(2008) Daniel Diaczok et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

OTX2Mutation in a Patient with Anophthalmia, Short Stature, and Partial Growth Hormone Deficiency: Functional Studies Using theIRBP,HESX1, andPOU1F1Promoters

(2008) Sumito Dateki et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

OTX2 Loss of Function Mutation Causes Anophthalmia and Combined Pituitary Hormone Deficiency with a Small Anterior and Ectopic Posterior Pituitary

(2008) Toshihiro Tajima et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM