Molecular Diagnoses of X‐Linked and Other Genetic Hypophosphatemias: Results From a Sponsored Genetic Testing Program

One in seven pathogenic variants can be challenging to detect by NGS: an analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementation

(2021) Stephen E. Lincoln et al.   GENETICS IN MEDICINE

X‐Linked Hypophosphatemia: Uniquely Mild Disease Associated With PHEX 3′‐UTR Mutation c.*231A>G (A Retrospective Case‐Control Study)

(2020) Pamela S. Smith et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Enhancing Diagnosis Through RNA Sequencing

(2020) David R. Murdock   CLINICS IN LABORATORY MEDICINE

FGF23 and its role in X-linked hypophosphatemia-related morbidity

(2019) Signe Sparre Beck-Nielsen et al.   Orphanet Journal of Rare Diseases

Burosumab versus conventional therapy in children with X-linked hypophosphataemia: a randomised, active-controlled, open-label, phase 3 trial

(2019) Erik A Imel et al.   LANCET

Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia

(2019) Dieter Haffner et al.   Nature Reviews Nephrology

Epidemiological, Clinical and Genetic Study of Hypophosphatasia in A Spanish Population: Identification of Two Novel Mutations in The Alpl Gene

(2019) Cristina García-Fontana et al.   Scientific Reports

Reclassification of Variants of Uncertain Significance in Children with Inherited Arrhythmia Syndromes is Predicted by Clinical Factors

(2019) Jeffrey S. Bennett et al.   PEDIATRIC CARDIOLOGY

Diagnostic utility of transcriptome sequencing for rare Mendelian diseases

(2019) Hane Lee et al.   GENETICS IN MEDICINE

Prevalence and mortality of individuals with X-linked hypophosphataemia: a United Kingdom real world data analysis

(2019) Samuel Hawley et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Sex-Based Analysis of De Novo Variants in Neurodevelopmental Disorders

(2019) Tychele N. Turner et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Prevalence and properties of intragenic copy-number variation in Mendelian disease genes

(2018) Rebecca Truty et al.   GENETICS IN MEDICINE

Burosumab Therapy in Children with X-Linked Hypophosphatemia

(2018) Thomas O. Carpenter et al.   NEW ENGLAND JOURNAL OF MEDICINE

Hypophosphatasia: From Diagnosis to Treatment

(2018) Sebastian Simon et al.   Current Rheumatology Reports

Outcomes of 92 patient-driven family studies for reclassification of variants of uncertain significance

(2018) Ginger J. Tsai et al.   GENETICS IN MEDICINE

Sherloc: a comprehensive refinement of the ACMG–AMP variant classification criteria

(2017) Keith Nykamp et al.   GENETICS IN MEDICINE

Vitamin D-Dependent Rickets Type 1B (25-Hydroxylase Deficiency): A Rare Condition or a Misdiagnosed Condition?

(2017) Arnaud Molin et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Tumour-induced osteomalacia

(2017) Salvatore Minisola et al.   Nature Reviews Disease Primers

Direct sequencing of FAH gene in Pakistani tyrosinemia type 1 families reveals a novel mutation

(2016) Sadaqat Ijaz et al.   JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM

A Case of Vitamin D-Dependent Rickets Type 1A with a Novel Mutation in the Uzbek Population

(2016) Bahar Özcabı et al.   Journal of Clinical Research in Pediatric Endocrinology

Functional assays provide a robust tool for the clinical annotation of genetic variants of uncertain significance

(2016) Nicholas T Woods et al.   npj Genomic Medicine

Next-Generation Sequencing of Duplication CNVs Reveals that Most Are Tandem and Some Create Fusion Genes at Breakpoints

(2015) Scott Newman et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Variability of systemic and oro-dental phenotype in two families with non-lethal Raine syndrome with FAM20C mutations

(2015) Ana Carolina Acevedo et al.   BMC Medical Genetics

Hypophosphatasia: Validation and expansion of the clinical nosology for children from 25years experience with 173 pediatric patients

(2015) Michael P. Whyte et al.   BONE

Nationwide survey of fibroblast growth factor 23 (FGF23)-related hypophosphatemic diseases in Japan: prevalence, biochemical data and treatment

(2015) Itsuro Endo et al.   ENDOCRINE JOURNAL

Hereditary hypophosphatemia in Norway: a retrospective population-based study of genotypes, phenotypes, and treatment complications

(2015) Silje Rafaelsen 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

CYP2R1Mutations Impair Generation of 25-hydroxyvitamin D and Cause an Atypical Form of Vitamin D Deficiency

(2015) Tom D. Thacher et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Periodontal Defects in the A116T Knock-in Murine Model of Odontohypophosphatasia

(2015) B.L. Foster et al.   JOURNAL OF DENTAL RESEARCH

A Systematic Comparison of Traditional and Multigene Panel Testing for Hereditary Breast and Ovarian Cancer Genes in More Than 1000 Patients

(2015) Stephen E. Lincoln et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Early onset hearing loss in autosomal recessive hypophosphatemic rickets caused by loss of function mutation in ENPP1

(2015) Elisabeth Steichen-Gersdorf et al.   JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM

Unusually severe hypophosphatemic rickets caused by a novel and complex re-arrangement of thePHEXgene

(2014) Tuula Pekkarinen et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Exome sequencing reveals a mutation in DMP1 in a family with familial sclerosing bone dysplasia

(2014) Marie-Hélène Gannagé-Yared et al.   BONE

Functional analysis of mutant FAM20C in Raine syndrome with FGF23-related hypophosphatemia

(2014) Yuka Kinoshita et al.   BONE

Hypophosphatemic rickets: etiology, clinical features and treatment

(2014) Vito Pavone et al.   European Journal of Orthopaedic Surgery and Traumatology

Diagnostic Exome Sequencing to Elucidate the Genetic Basis of Likely Recessive Disorders in Consanguineous Families

(2014) Periklis Makrythanasis et al.   HUMAN MUTATION

Clinical and Radiographic Findings in Adults With Persistent Hypophosphatasemia

(2014) Fergus Eoin McKiernan et al.   JOURNAL OF BONE AND MINERAL RESEARCH

PHEX3′-UTR c.*231A>G Near The Polyadenylation Signal Is a Relatively Common, Mild, American Mutation That Masquerades as Sporadic or X-Linked Recessive Hypophosphatemic Rickets

(2014) Steven Mumm et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Mutations in SLC34A3/NPT2c Are Associated with Kidney Stones and Nephrocalcinosis

(2014) D. Dasgupta et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Clinical spectrum of hypophosphatasia diagnosed in adults

(2013) Kathryn E. Berkseth et al.   BONE

Exome sequencing reveals FAM20c mutations associated with fibroblast growth factor 23-related hypophosphatemia, dental anomalies, and ectopic calcification

(2013) Silje Hjorth Rafaelsen et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Differences in carrier frequency between mothers of Duchenne and Becker muscular dystrophy patients

(2013) Tomoko Lee et al.   JOURNAL OF HUMAN GENETICS

Vitamin D receptor mutations in patients with hereditary 1,25-dihydroxyvitamin D-resistant rickets

(2013) Peter J. Malloy et al.   MOLECULAR GENETICS AND METABOLISM

Novel and de novo PHEX mutations in patients with hypophosphatemic rickets

(2012) Erdem Durmaz et al.   BONE

Autosomal dominant hypophosphatemic rickets in an 85year old woman: Characterization of her disease from infancy through adulthood

(2012) Margaret Seton et al.   BONE

Clinical and genetic analysis of patients with vitamin D-dependent rickets type 1A

(2012) Erdem Durmaz et al.   CLINICAL ENDOCRINOLOGY

Mineralizing Enthesopathy Is a Common Feature of Renal Phosphate-Wasting Disorders Attributed to FGF23 and Is Exacerbated by Standard Therapy in Hyp Mice

(2012) Andrew C. Karaplis et al.   ENDOCRINOLOGY

Mutational analysis of patients with FGF23-related hypophosphatemic rickets

(2012) Yuka Kinoshita et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Mutation of theCYP2R1Vitamin D 25-Hydroxylase in a Saudi Arabian Family with Severe Vitamin D Deficiency

(2012) Angham N. Al Mutair et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Novel compound heterozygous mutations in ENPP1 cause hypophosphataemic rickets with anterior spinal ligament ossification

(2012) P. Mehta et al.   RHEUMATOLOGY

Amelogenesis Imperfecta and Other Biomineralization Defects in Fam20a and Fam20c Null Mice

(2012) P. Vogel et al.   VETERINARY PATHOLOGY

Inactivation of a Novel FGF23 Regulator, FAM20C, Leads to Hypophosphatemic Rickets in Mice

(2012) Xiaofang Wang et al.   PLoS Genetics

Processing and stability of type IIc sodium-dependent phosphate cotransporter mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria

(2011) Sakiko Haito-Sugino et al.   AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY

A patient with hypophosphatemic rickets and ossification of posterior longitudinal ligament caused by a novel homozygous mutation in ENPP1 gene

(2011) Tasuku Saito et al.   BONE

FGF23 analysis of a Chinese family with autosomal dominant hypophosphatemic rickets

(2011) Yue Sun et al.   JOURNAL OF BONE AND MINERAL METABOLISM

The expanding family of hypophosphatemic syndromes

(2011) Thomas O. Carpenter   JOURNAL OF BONE AND MINERAL METABOLISM

A clinician's guide to X-linked hypophosphatemia

(2011) Thomas O Carpenter et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Loss-of-Function ENPP1 Mutations Cause Both Generalized Arterial Calcification of Infancy and Autosomal-Recessive Hypophosphatemic Rickets

(2010) Bettina Lorenz-Depiereux et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Raine syndrome: a clinical, radiographic and genetic investigation of a case from the Indian subcontinent

(2010) Gurpreet Singh Kochar et al.   CLINICAL DYSMORPHOLOGY

Osteoglophonic dysplasia: A ‘common’ mutation in a rare disease

(2010) AJ Sow et al.   CLINICAL GENETICS

A novel nonsense mutation in the DMP1 gene in a Japanese family with autosomal recessive hypophosphatemic rickets

(2010) Ryusuke Koshida et al.   JOURNAL OF BONE AND MINERAL METABOLISM

Treatment of X-Linked Hypophosphatemia with Calcitriol and Phosphate Increases Circulating Fibroblast Growth Factor 23 Concentrations

(2010) Erik A. Imel et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterozygosity for severe and moderate alleles

(2009) Delphine Fauvert et al.   BMC Medical Genetics

PHEX analysis in 118 pedigrees reveals new genetic clues in hypophosphatemic rickets

(2009) Céline Gaucher et al.   HUMAN GENETICS

Mutational survey of the PHEX gene in patients with X-linked hypophosphatemic rickets

(2008) Shoji Ichikawa et al.   BONE

Molecular analysis of DMP1 mutants causing autosomal recessive hypophosphatemic rickets

(2008) Emily G. Farrow et al.   BONE

Incidence and prevalence of nutritional and hereditary rickets in southern Denmark

(2008) Signe Sparre Beck-Nielsen et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY