Novel Genomic Variants, Atypical Phenotypes and Evidence of a Digenic/Oligogenic Contribution to Disorders/Differences of Sex Development in a Large North African Cohort

Loss-of-function variants in SEMA3F and PLXNA3 encoding semaphorin-3F and its receptor plexin-A3 respectively cause idiopathic hypogonadotropic hypogonadism

(2021) Leman Damla Kotan et al.   GENETICS IN MEDICINE

One4Two®: An Integrated Molecular Approach to Optimize Infertile Couples’ Journey

(2021) Valeria D’Argenio et al.   Genes

Monogenic forms of DSD: An update

(2021) Kenneth McElreavey et al.   Hormone Research in Paediatrics

Pharmacology and physiological function of the orphan GPRC6A receptor

(2020) Christinna V. Jørgensen et al.   BASIC & CLINICAL PHARMACOLOGY & TOXICOLOGY

COUP-TFII in Health and Disease

(2020) Simone Polvani et al.   Cells

Analysis of variants in GATA4 and FOG2 / ZFPM2 demonstrates benign contribution to 46,XY disorders of sex development

(2020) Jocelyn A. Bergen et al.   Molecular Genetics & Genomic Medicine

Combined in‐vitro and in‐silico analyses of FGFR1 variants: genotype‐phenotype study in idiopathic hypogonadotropic hypogonadism

(2020) Daoqi Wang et al.   CLINICAL GENETICS

Clinical and molecular spectrum of 46,XY disorders of sex development that harbour MAMLD1 variations: case series and review of literature

(2020) Lele Li et al.   Orphanet Journal of Rare Diseases

Rare Tumor-Normal Matched Whole Exome Sequencing Identifies Novel Genomic Pathogenic Germline and Somatic Aberrations

(2020) Ryan Sprissler et al.   Cancers

Whole genome investigation of an atypical autism case identifies a novel ANOS1 mutation with subsequent diagnosis of Kallmann syndrome

(2020) Paul A. Dawson et al.   Molecular Genetics and Metabolism Reports

Survey of disorders of sex development in a large cohort of patients with diverse Mendelian phenotypes

(2020) Dalia Abualsaud et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Genotypic and phenotypic spectrum of CCDC141 variants in a Chinese cohort with congenital hypogonadotropic hypogonadism

(2020) Qiao Hou et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

GnRH Deficient Patients With Congenital Hypogonadotropic Hypogonadism: Novel Genetic Findings in ANOS1, RNF216, WDR11, FGFR1, CHD7, and POLR3A Genes in a Case Series and Review of the Literature

(2020) Vassos Neocleous et al.   Frontiers in Endocrinology

Clinical Evaluation of a Custom Gene Panel as a Tool for Precision Male Infertility Diagnosis by Next-Generation Sequencing

(2020) Rossella Cannarella et al.   Life-Basel

Pituitary stalk interruption syndrome is characterized by genetic heterogeneity

(2020) Raja Brauner et al.   PLoS One

Next generation sequencing (NGS) to improve the diagnosis and management of patients with disorders of sex development (DSD)

(2019) Lowri A Hughes et al.   Endocrine Connections

Evidence for a Common Genetic Origin of Classic and Milder Adult-Onset Forms of Isolated Hypogonadotropic Hypogonadism

(2019) Biagio Cangiano et al.   Journal of Clinical Medicine

Next generation sequencing refines the genetic architecture of Greek GnRH deficient patients

(2019) Maria Stamou et al.   Endocrine Connections

Genetic Mosaicism in a Group of Patients With Cornelia de Lange Syndrome

(2019) Natalia Krawczynska et al.   Frontiers in Pediatrics

HCN ion channels and accessory proteins in epilepsy: genetic analysis of a large cohort of patients and review of the literature

(2019) Jacopo C. DiFrancesco et al.   EPILEPSY RESEARCH

New Insights from Unbiased Panel and Whole-Exome Sequencing in a Large Chinese Cohort with Disorders of Sex Development.

(2019) Yufei Xu et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome

(2019) Ken McElreavey et al.   GENETICS IN MEDICINE

A novel homozygous frame-shift mutation in the SLC29A3 gene: a new case report and review of literature

(2019) Sadaf Noavar et al.   BMC Medical Genetics

Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels

(2019) Dona M. Kanavy et al.   Genome Medicine

Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes

(2019) Antonio Capalbo et al.   PLoS Genetics

Loss of Function of the Nuclear Receptor NR2F2 , Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children

(2018) Anu Bashamboo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A targeted sequencing panel identifies rare damaging variants in multiple genes in the cranial neural tube defect, anencephaly

(2018) M. Ishida et al.   CLINICAL GENETICS

Testing for NRAS Mutations in Serous Borderline Ovarian Tumors and Low-Grade Serous Ovarian Carcinomas

(2018) Pawel Sadlecki et al.   DISEASE MARKERS

Broad phenotypes in heterozygous NR5A1 46,XY patients with a disorder of sex development: an oligogenic origin?

(2018) Núria Camats et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

SEXUAL DIMORPHISM IN SELENIUM METABOLISM AND SELENOPROTEINS

(2018) Lucia A. Seale et al.   FREE RADICAL BIOLOGY AND MEDICINE

Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies

(2018) Marie-France Portnoi et al.   HUMAN MOLECULAR GENETICS

High genetic carrier frequency of Wilson’s disease in France: discrepancies with clinical prevalence

(2018) Corinne Collet et al.   BMC Medical Genetics

Targeted Next-Generation Sequencing of 406 Genes Identified Genetic Defects Underlying Congenital Heart Disease in Down Syndrome Patients

(2018) Khalid M. Alharbi et al.   PEDIATRIC CARDIOLOGY

Genetic and epigenetic analyses guided by high resolution whole-genome SNP array reveals a possible role of CHEK2 in Wilms tumour susceptibility

(2018) Sara Ciceri et al.   Oncotarget

Integrating clinical and genetic approaches in the diagnosis of 46,XY disorders of sex development

(2018) Zofia Kolesinska et al.   Endocrine Connections

Next-generation sequencing of patients with congenital anosmia

(2017) Anna Alkelai et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Determinants of Advanced Bone Age in Childhood Obesity


(2017) Cornelis J. de Groot et al.   Hormone Research in Paediatrics

Modeling mutant/wild-type interactions to ascertain pathogenicity of PROKR2 missense variants in patients with isolated GnRH deficiency

(2017) Kimberly H Cox et al.   HUMAN MOLECULAR GENETICS

Digenic Inheritance of PROKR2 and WDR11 Mutations in Pituitary Stalk Interruption Syndrome

(2017) Shana E. McCormack et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

CCDC141 Mutations in Idiopathic Hypogonadotropic Hypogonadism

(2017) Ihsan Turan et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Pathogenic Anti-Müllerian Hormone Variants in Polycystic Ovary Syndrome

(2017) Lidija K Gorsic et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Kallmann syndrome: phenotype and genotype of hypogonadotropic hypogonadism

(2017) Maria I. Stamou et al.   METABOLISM-CLINICAL AND EXPERIMENTAL

Diagnostic yield of targeted gene panel sequencing to identify the genetic etiology of disorders of sex development

(2017) Ja Hye Kim et al.   MOLECULAR AND CELLULAR ENDOCRINOLOGY

Genotype-phenotype correlation and identification of two novel SRD5A2 mutations in 33 Chinese patients with hypospadias

(2017) Shimin Yuan et al.   STEROIDS

Try235Phe homozygous mutation of the steroid 5-a reductase type 2 (SRD5A2) gene in a Turkish patient

(2017) Mesut Parlak et al.   ANNALS OF SAUDI MEDICINE

Rapid Molecular Genetic Diagnosis with Next-Generation Sequencing in 46,XY Disorders of Sex Development Cases: Efficiency and Cost Assessment

(2016) Samim Özen et al.   Hormone Research in Paediatrics

Idiopathic Hypogonadotropic Hypogonadism Caused by Inactivating Mutations in SRA1

(2016) Leman Damla Kotan et al.   Journal of Clinical Research in Pediatric Endocrinology

Clinical and molecular characterization of seven Egyptian families with autosomal recessive robinow syndrome: Identification of four novelROR2gene mutations

(2015) Mona Aglan et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The aldo-keto reductases (AKRs): Overview

(2015) Trevor M. Penning   CHEMICO-BIOLOGICAL INTERACTIONS

Utility of whole-genome sequencing for detection of newborn screening disorders in a population cohort of 1,696 neonates

(2015) Dale L. Bodian 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

Exome Sequencing for the Diagnosis of 46,XY Disorders of Sex Development

(2015) Ruth M. Baxter et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease

(2015) Ender Karaca et al.   NEURON

Pathogenesis of germ cell neoplasia in testicular dysgenesis and disorders of sex development

(2015) Anne Jørgensen et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

Prevalence and penetrance ofZFPM2mutations and deletions causing congenital diaphragmatic hernia

(2014) M. Longoni et al.   CLINICAL GENETICS

Consanguinity and Disorders of Sex Development

(2014) Anu Bashamboo et al.   HUMAN HEREDITY

Disorders of Sex Development (DSDs): An Update

(2014) Harry Ostrer   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

The Fibroblast Growth Factor Receptor Genetic Status as a Potential Predictor of the Sensitivity to CH5183284/Debio 1347, a Novel Selective FGFR Inhibitor

(2014) Y. Nakanishi et al.   MOLECULAR CANCER THERAPEUTICS

Fetal programming of adult Leydig cell function by androgenic effects on stem/progenitor cells

(2014) K. R. Kilcoyne et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Simultaneous Sequencing of 24 Genes Associated with Steroid-Resistant Nephrotic Syndrome

(2013) H. J. McCarthy et al.   Clinical Journal of the American Society of Nephrology

FGFR1mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly

(2013) Nicolas Simonis et al.   JOURNAL OF MEDICAL GENETICS

H syndrome: The first 79 patients

(2013) Vered Molho-Pessach et al.   JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY

Targeted massively parallel sequencing provides comprehensive genetic diagnosis for patients with disorders of sex development

(2012) VA Arboleda et al.   CLINICAL GENETICS

A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome

(2012) Jorieke E.H. Bergman et al.   HUMAN MUTATION

Mutations in MAP3K1 Cause 46,XY Disorders of Sex Development and Implicate a Common Signal Transduction Pathway in Human Testis Determination

(2010) Alexander Pearlman et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Identical but not the same: The value of discordant monozygotic twins in genetic research

(2010) Petra J.G. Zwijnenburg et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Mutations in the CHD7 Gene: The Experience of a Commercial Laboratory

(2010) Cynthia F. Bartels et al.   Genetic Testing and Molecular Biomarkers

Vascular endothelial growth factor B controls endothelial fatty acid uptake

(2010) Carolina E. Hagberg et al.   NATURE

Essential Roles of COUP-TFII in Leydig Cell Differentiation and Male Fertility

(2008) Jun Qin et al.   PLoS One