Publications
Loss of IRF2BPL impairs neuronal maintenance through excess Wnt signaling
January 21, 2022Science Advances
Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder
January 13, 2022American Journal of Human Genetics
Bilateral choanal stenosis in auriculocondylar syndrome caused by a PLCB4 variant
January 7, 2022American Journal of Medical Genetics
Patients as Partners in Rare Disease Diagnosis and Research
December 29, 2021The Yale Journal of Biology and Medicine
The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder
December 2, 2021Human Mutation
Gain-of-Function Mutations in RPA1 Cause a Syndrome with Short Telomeres and Somatic Genetic Rescue
November 12, 2021Blood
De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures
October 26, 2021Molecular Autism
Variable clinical severity in TANGO2 deficiency: Case series and literature review
October 19, 2021American Journal of Medical Genetics, Part A
Identifying digenic disease genes via machine learning in the Undiagnosed Diseases Network
September 10, 2021American Journal of Human Genetics
COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay
August 24, 2021American Journal of Human Genetics
Genetic counselor roles in the Undiagnosed Diseases Network research study: clinical care, collaboration, and curation
August 10, 2021Journal of Genetic Counseling
Functional analysis of a de novo variant in the neurodevelopment and generalized epilepsy disease gene NBEA
August 9, 2021Molecular Genetics and Metabolism
TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila
July 19, 2021American Journal of Human Genetics
One is the loneliest number: genotypic matchmaking using the electronic health record
July 6, 2021Genetics in Medicine
Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome
July 1, 2021Nature Genetics
Pathogenic MAST3 variants in the STK domain are associated with epilepsy
June 29, 2021Annals of Neurology
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations
June 23, 2021Genetics in Medicine
Clinical application of a scale to assess genomic healthcare empowerment (GEmS): Process and illustrative case examples
June 11, 2021Journal of Genetic Counseling
Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11
June 10, 2021Genetics in Medicine
"Doctors can read about it, they can know about it, but they've never lived with it": How parents use social media throughout the diagnostic odyssey
June 6, 2021Journal of Genetic Counseling
TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study
May 27, 2021American Journal of Medical Genetics, Part A
Rare disease patient matchmaking: development and outcomes of an internet case-finding strategy in the Undiagnosed Diseases Network
May 10, 2021Orphanet Journal of Rare Diseases
PPP3CA truncating variants clustered in the regulatory domain cause early-onset refractory epilepsy
May 8, 2021Clinical Genetics
Model organisms contribute to diagnosis and discovery in the Undiagnosed Diseases Network: current state and a future vision
May 7, 2021Orphanet Journal of Rare Diseases
Progressive cerebellar atrophy in a patient with complex II and III deficiency and a novel deleterious variant in SDHA: A Counseling Conundrum
May 7, 2021Molecular Genetics & Genomic Medicine
Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey
May 6, 2021Molecular Genetics & Genomic Medicine
A novel de novo intronic variant in ITPR1 causes Gillespie syndrome
May 5, 2021American Journal of Medical Genetics, Part A
Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy
May 4, 2021Human Genetics
Finding commonalities in rare diseases through the Undiagnosed Diseases Network
May 3, 2021Journal of the American Medical Informatics Association
A resource of lipidomics and metabolomics data from individuals with undiagnosed diseases
April 21, 2021Scientific Data
Rare deleterious de novo missense variants in RNF2/RING2 are associated with a neurodevelopmental disorder with unique clinical features
April 16, 2021Human Molecular Genetics
Heterozygous variants in SPTBN1 cause intellectual disability and autism
April 13, 2021American Journal of Medical Genetics, Part A
Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain
April 8, 2021Genetics in Medicine
A Description of Novel Variants and Review of Phenotypic Spectrum in UBA5-related Early Epileptic Encephalopathy
April 2, 2021Cold Spring Harbor Molecular Case Studies
Functional and structural analysis of cytokine selective IL6ST defects that cause recessive hyper-IgE syndrome
March 23, 2021Journal of Allergy and Clinical Immunology
Identification of rare and common regulatory variants in pluripotent cells using population-scale transcriptomics
March 4, 2021Nature Genetics
Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases
February 12, 2021Genetics in Medicine
A fish with no sex: gonadal and adrenal functions partition between zebrafish NR5A1 co-orthologs
February 9, 2021Genetics
Machine Learning of Patient Characteristics to Predict Admission Outcomes in the Undiagnosed Diseases Network
February 1, 2021JAMA Network Open
De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis
January 25, 2021American Journal of Human Genetics
Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variation
January 20, 2021Science Advances
Expansion of NEUROD2 phenotypes to include developmental delay without seizures
January 13, 2021American Journal of Medical Genetics, Part A
Missense variants in CTNNB1 can be associated with vitreoretinopathy-Seven new cases of CTNNB1-associated neurodevelopmental disorder including a previously unreported retinal phenotype
December 22, 2020Molecular Genetics & Genomic Medicine
A Recurrent Gain-of-Function Mutation in CLCN6, Encoding the ClC-6 Cl -/H +-Exchanger, Causes Early-Onset Neurodegeneration
December 3, 2020American Journal of Human Genetics
Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients
December 2, 2020Science Advances
An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids
November 26, 2020Genetics in Medicine
BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms
November 23, 2020American Journal of Human Genetics
Discovery of a novel CHD7 CHARGE syndrome variant by integrated omics analyses
November 13, 2020American Journal of Medical Genetics, Part A
DYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literature
November 7, 2020Molecular Genetics & Genomic Medicine
KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation
November 5, 2020Brain
MPEG1/Perforin-2 Haploinsufficiency Associated Polymicrobial Skin Infections and Considerations for Interferon-γ Therapy
November 3, 2020Frontiers in Immunology
Family genetic result communication in rare and undiagnosed disease communities: understanding the practice
October 27, 2020Journal of Genetic Counseling
Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease
October 27, 2020New England Journal of Medicine
Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science
October 23, 2020Genetics in Medicine
Novel NUDT2 variant causes intellectual disability and polyneuropathy
October 15, 2020Annals of Clinical and Translational Neurology
Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing
October 1, 2020Journal of Clinical Investigation
A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome
September 8, 2020European Journal of Human Genetics
Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder
August 6, 2020Brain
Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network
July 30, 2020Molecular Genetics & Genomic Medicine
De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism
July 20, 2020American Journal of Human Genetics
Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis and treatment suggestions
July 18, 2020Journal of Inherited Metabolic Disease
Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature
June 26, 2020Journal of Inherited Metabolic Disease
Yippee Like 3 (ypel3) Is a Novel Gene Required for Myelinating and Perineurial Glia Development
June 16, 2020PLoS Genetics
De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairment
June 3, 2020Human Molecular Genetics
Mutations in GET4 Disrupt the Transmembrane Domain Recognition Complex Pathway
May 12, 2020Journal of Inherited Metabolic Disease
Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7
May 7, 2020Genetics in Medicine
Alternative transcripts in variant interpretation: the potential for missed diagnoses and misdiagnoses
May 5, 2020Genetics in Medicine
De Novo Variants in CDK19 Are Associated with a Syndrome Involving Intellectual Disability and Epileptic Encephalopathy
April 23, 2020American Journal of Human Genetics
The Undiagnosed Diseases Program: Approach to Diagnosis
April 13, 2020Translational Science of Rare Diseases
Dominant-negative Mutations in Human IL6ST Underlie hyper-IgE Syndrome
March 24, 2020Journal of Experimental Medicine
Limitations of Exome Sequencing in Detecting Rare and Undiagnosed Diseases
March 19, 2020American Journal of Medical Genetics, Part A
De Novo EIF2AK1 and EIF2AK2 Variants Are Associated With Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation
March 16, 2020American Journal of Human Genetics
Loss- Or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms
March 9, 2020Neuron
Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiency
February 10, 2020Molecular Genetics and Metabolism
Myopathy associated with homozygous PYROXD1 pathogenic variants detected by genome sequencing
February 9, 2020Neuropathology
GATAD2B-associated Neurodevelopmental Disorder (GAND): Clinical and Molecular Insights Into a NuRD-related Disorder
January 17, 2020Genetics in Medicine
Statistically-driven Metabolite and Lipid Profiling of Patients from the Undiagnosed Diseases Network
November 19, 2019Analytical Chemistry
De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder
November 14, 2019Genetics in Medicine
Truncating variants in UBAP1 associated with childhood-onset nonsyndromic hereditary spastic paraplegia
November 7, 2019Human Mutation
VarSight: prioritizing clinically reported variants with binary classification algorithms
October 15, 2019BMC Bioinformatics
Diagnostic utility of transcriptome sequencing for rare Mendelian diseases
October 14, 2019Genetics in Medicine
De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects
October 3, 2019American Journal of Human Genetics
Yield of whole exome sequencing in undiagnosed patients facing insurance coverage barriers to genetic testing
September 3, 2019Journal of Genetic Counseling
Using MARRVEL v1.2 for Bioinformatics Analysis of Human Genes and Variant Pathogenicity
September 1, 2019Current Protocols in Bioinformatics
The Genome Empowerment Scale (GEmS): An Assessment of Parental Empowerment in Families with Undiagnosed Disease
August 25, 2019Clinical Genetics
Genomics in medicine: a novel elective rotation for internal medicine residents
August 22, 2019Postgraduate Medical Journal
In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
August 20, 2019Journal of Visualized Experiments
Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
August 15, 2019Journal of Visualized Experiments
De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia
July 18, 2019American Journal of Human Genetics
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
The fruit fly at the interface of diagnosis and pathogenic mechanisms of rare and common human diseases
June 22, 2019Human Molecular Genetics
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
Cog4 is required for protrusion and extension of the epithelium in the developing semicircular canals
October 1, 2018Mechanisms of Development
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
The Undiagnosed Diseases Network of the National Institutes of Health: A National Extension
November 3, 2015The Journal of the American Medical Association