Phenotypic continuum between Waardenburg syndrome and idiopathic hypogonadotropic hypogonadism in humans with SOX10 variants

The mutational constraint spectrum quantified from variation in 141,456 humans

(2020) Konrad J. Karczewski et al.   NATURE

Functional analysis of SOX10 mutations identified in Chinese patients with Kallmann syndrome

(2019) Wenting Dai et al.   GENE

Treatment of gonadotropin deficiency during the first year of life: long-term observation and outcome in five boys

(2019) Ella Kohva et al.   HUMAN REPRODUCTION

New genetic findings in a large cohort of congenital hypogonadotropic hypogonadism

(2019) Lorena Guimaraes Lima Amato et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Burden Testing of Rare Variants Identified through Exome Sequencing via Publicly Available Control Data

(2018) Michael H. Guo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Biallelic deletions of the Waardenburg II syndrome gene, SOX10 , cause a recognizable arthrogryposis syndrome

(2018) Roger E. Stevenson et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

CADD: predicting the deleteriousness of variants throughout the human genome

(2018) Philipp Rentzsch et al.   NUCLEIC ACIDS RESEARCH

REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants

(2016) Nilah M. Ioannidis et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Reversal of congenital hypogonadotropic hypogonadism in a man with Kallmann syndrome due toSOX10mutation

(2016) Luigi Maione et al.   CLINICAL ENDOCRINOLOGY

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

(2015) Jessica X. Chong et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Loss-of-Function SOX10 Mutation in a Patient with Kallmann Syndrome, Hearing Loss, and Iris Hypopigmentation

(2015) Erina Suzuki et al.   Hormone Research in Paediatrics

Subnuclear re-localization of SOX10 and p54NRB correlates with a unique neurological phenotype associated with SOX10 missense mutations

(2015) Asma Chaoui et al.   HUMAN MOLECULAR GENETICS

Crystallization and X-ray diffraction analysis of the HMG domain of the chondrogenesis master regulator Sox9 in complex with a ChIP-Seq-identified DNA element

(2015) Saravanan Vivekanandan et al.   Acta Crystallographica Section F-Structural Biology Communications

Neural crest cells: From developmental biology to clinical interventions

(2014) Parinya Noisa et al.   BIRTH DEFECTS RESEARCH PART C-EMBRYO TODAY-REVIEWS

De novo SOX10 nonsense mutation in a patient with Kallmann syndrome and hearing loss

(2014) Kirsi Vaaralahti et al.   PEDIATRIC RESEARCH

Loss-of-Function Mutations in SOX10 Cause Kallmann Syndrome with Deafness

(2013) Veronique Pingault et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Olfactory ensheathing glia are required for embryonic olfactory axon targeting and the migration of gonadotropin-releasing hormone neurons

(2013) P. Barraud et al.   Biology Open

Spectrum of Temporal Bone Abnormalities in Patients with Waardenburg Syndrome andSOX10Mutations

(2012) M. Elmaleh-Bergès et al.   AMERICAN JOURNAL OF NEURORADIOLOGY

A 725 kb deletion at 22q13.1 chromosomal region including SOX10 gene in a boy with a neurologic variant of Waardenburg syndrome type 2

(2012) Elisavet Siomou et al.   European Journal of Medical Genetics

Identification and functional analysis ofSOX10missense mutations in different subtypes of waardenburg syndrome

(2011) Asma Chaoui et al.   HUMAN MUTATION

LOVD v.2.0: the next generation in gene variant databases

(2011) Ivo F. A. C. Fokkema et al.   HUMAN MUTATION

Neural Crest and Ectodermal Cells Intermix in the Nasal Placode to Give Rise to GnRH-1 Neurons, Sensory Neurons, and Olfactory Ensheathing Cells

(2011) P. E. Forni et al.   JOURNAL OF NEUROSCIENCE

Isolated GnRH deficiency: A disease model serving as a unique prism into the systems biology of the GnRH neuronal network

(2011) Ravikumar Balasubramanian et al.   MOLECULAR AND CELLULAR ENDOCRINOLOGY

Allelic Diversity in Human Developmental Neurogenetics: Insights into Biology and Disease

(2010) Christopher A. Walsh et al.   NEURON

Oligogenic basis of isolated gonadotropin-releasing hormone deficiency

(2010) G. P. Sykiotis et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

(2009) Prateek Kumar et al.   Nature Protocols

SOX10mutation in Waardenburg syndrome type II

(2008) Manami Iso et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A sensitized mutagenesis screen identifies Gli3 as a modifier of Sox10 neurocristopathy

(2008) Ivana Matera et al.   HUMAN MOLECULAR GENETICS