Publications
The Undiagnosed Diseases Network as a tool for graduate medical education
July 10, 2019American Journal of Medicine
Partial loss of USP9X function leads to a male neurodevelopmental and behavioural disorder converging on TGFβ signalling
June 29, 2019Biological Psychiatry
Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy
June 21, 2019Clinical Imaging
Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts
June 3, 2019Nature Medicine
Lysosomal storage and albinism due to effects of a de novo CLCN7 variant on lysosomal acidification
May 30, 2019American Journal of Human Genetics
Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis
May 5, 2019Human Mutation
Whole genome sequencing reveals novel IGHMBP2 variant leading to unique cryptic splice‐site and Charcot‐Marie‐Tooth phenotype with early onset symptoms
April 25, 2019Molecular Genetics & Genomic Medicine
IgG4-related disease: association with a rare gene variant expressed in cytotoxic T cells
April 16, 2019Molecular Genetics & Genomic Medicine
A toolkit for genetics providers in follow-up of patients with non-diagnostic exome sequencing
April 9, 2019Journal of Genetic Counseling
Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature review
March 28, 2019American Journal of Medical Genetics, Part A
Reported environmental exposures are inversely associated with obtaining a genetic diagnosis in the Undiagnosed Diseases Network
March 23, 2019American Journal of Medical Genetics, Part A
A Patient with Sjogren's Syndrome and Subsequent Diagnosis of Inclusion Body Myositis and Light-Chain Amyloidosis
March 18, 2019Journal of General Internal Medicine
Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly
March 7, 2019Genetics in Medicine
SLC35A2-CDG: Functional Characterization, Expanded Molecular, Clinical, and Biochemical Phenotypes of 30 Unreported Individuals
February 28, 2019Human Mutation
Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes
February 11, 2019American Journal of Human Genetics
Kilquist Syndrome: A Novel Syndromic Hearing Loss Disorder Caused by Homozygous Deletion of SLC12A2
February 10, 2019Human Mutation
Developing a genomics rotation: Practical training around variant interpretation for genetic counseling students
February 1, 2019Journal of Genetic Counseling
Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies
January 25, 2019Genetics in Medicine
Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region
January 25, 2019Epilepsia
Cases from the Undiagnosed Diseases Network: The continued value of counseling skills in a new genomic era
January 24, 2019Journal of Genetic Counseling
Microdeletions excluding YWHAE and PAFAH1B1 cause a unique leukoencephalopathy: further delineation of the 17p13.3 microdeletion spectrum
December 20, 2018Genetics in Medicine
Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay
December 20, 2018American Journal of Human Genetics
Recurrent mosaic MTOR c.5930C>T (p.Thr1977Ile) variant causing megalencephaly, asymmetric polymicrogyria, and cutaneous pigmentary mosaicism: Case report and review of the literature
December 19, 2018American Journal of Medical Genetics, Part A
Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism
December 6, 2018American Journal of Human Genetics
ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosis
December 5, 2018Genetics in Medicine
Pathogenic Variants in Fucokinase Cause a Congenital Disorder of Glycosylation
November 29, 2018American Journal of Human Genetics
Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration
November 14, 2018EMBO Journal
Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease
October 10, 2018New England Journal of Medicine
A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation
October 4, 2018American Journal of Human Genetics
Phenotypic expansion in DDX3X - a common cause of intellectual disability in females
September 15, 2018Annals of Clinical and Translational Neurology
novoCaller: A Bayesian network approach for de novo variant calling from pedigree and population sequence data
August 30, 2018Bioinformatics
Characteristics of undiagnosed diseases network applicants: implications for referring providers
August 22, 2018BMC Health Services Research
An integrated clinical program and crowdsourcing strategy for genomic sequencing and Mendelian disease gene discovery
August 13, 2018npj Genomic Medicine
Atypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytoma
July 20, 2018Neurology Genetics
Further Evidence for the Involvement of EFL1 in a Shwachman-Diamond-like Syndrome and Expansion of the Phenotypic Features
July 3, 2018Cold Spring Harbor Molecular Case Studies
De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features
June 28, 2018American Journal of Human Genetics
A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative
June 15, 2018Genetics in Medicine
5,10-methenyltetrahydrofolate synthetase deficiency causes a neurometabolic disorder associated with microcephaly, epilepsy, and cerebral hypomyelination
June 15, 2018Molecular Genetics and Metabolism
Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome
May 24, 2018American Journal of Human Genetics
Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder
May 2, 2018Human Molecular Genetics
Understanding Adult Participant and Parent Empowerment Prior to Evaluation in the Undiagnosed Diseases Network
March 1, 2018Journal of Genetic Counseling
Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants
February 22, 2018Genetics in Medicine
Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder
February 22, 2018American Journal of Human Genetics
Clinical heterogeneity of mitochondrial NAD kinase deficiency caused by a NADK2 start loss variant
February 1, 2018American Journal of Medical Genetics, Part A
Phenotypic heterogeneity of ZMPSTE24 deficiency
January 17, 2018American Journal of Medical Genetics, Part A
Genotype-phenotype correlations in individuals with pathogenic RERE variants
January 13, 2018Human Mutation
A New Approach to Rare Diseases of Children: The Undiagnosed Diseases Network
January 11, 2018Journal of Pediatrics
Psychosocial Profiles of Parents of Children with Undiagnosed Diseases: Managing Well or Just Managing?
January 2, 2018Journal of Genetic Counseling
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability
November 2, 2017American Journal of Human Genetics
Implementing the Single Institutional Review Board Model: Lessons from the Undiagnosed Diseases Network
October 23, 2017Clinical and Translational Science
Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases
September 14, 2017Genetics in Medicine
Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research
September 1, 2017Genetics
Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders
August 14, 2017Genome Medicine
Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially
July 24, 2017PLoS Genetics
MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome
May 11, 2017American Journal of Human Genetics
Expanding the phenotypic spectrum of GABRG2 variants: a recurrent GABRG2 missense variant associated with a severe phenotype
May 2, 2017Journal of Neurogenetics
A window into living with an undiagnosed disease: illness narratives from the Undiagnosed Diseases Network
April 17, 2017Orphanet Journal of Rare Diseases
The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease
February 2, 2017American Journal of Human Genetics
A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay
January 26, 2017American Journal of Human Genetics
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3
January 5, 2017American Journal of Human Genetics
Exome Sequencing Identifies De Novo Pathogenic Variants in FBN1 and TRPS1 in a Patient with a Complex Connective Tissue Phenotype
November 11, 2016Cold Spring Harbor Molecular Case Studies
De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype
November 6, 2016American Journal of Human Genetics
A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development
July 4, 2016Human Molecular Genetics
The NIH Undiagnosed Diseases Program and Network: Applications to modern medicine
January 22, 2016Molecular Genetics and Metabolism
Undiagnosed Diseases Network International (UDNI): White paper for global actions to meet patient needs
November 5, 2015Molecular Genetics and Metabolism
The Undiagnosed Diseases Network of the National Institutes of Health: A National Extension
November 3, 2015The Journal of the American Medical Association