List of works - Undiagnosed Diseases Network

A New Approach to Rare Diseases of Children: The Undiagnosed Diseases Network

scientific article published on 11 January 2018

A Patient with Sjogren's Syndrome and Subsequent Diagnosis of Inclusion Body Myositis and Light-Chain Amyloidosis

scientific article published on 18 March 2019

A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation

article

A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay

scientific article published on 25 January 2017

A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3

scientific journal article

A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative

scientific article published on 15 June 2018

A toolkit for genetics providers in follow-up of patients with non-diagnostic exome sequencing

article

A window into living with an undiagnosed disease: illness narratives from the Undiagnosed Diseases Network

scientific article

Alternative transcripts in variant interpretation: the potential for missed diagnoses and misdiagnoses

scientific article published on 05 May 2020

Atypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytoma

scientific article published on 20 July 2018

Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder

scientific article published on 06 August 2020

Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder

scientific article published on 16 February 2018

Cases from the Undiagnosed Diseases Network: The continued value of counseling skills in a new genomic era

scientific article published on 24 January 2019

ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosis

scientific article published on 05 December 2018

Correction: Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome

scientific article published on 01 June 2020

Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder

scientific article published on 01 April 2020

De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features

scientific article published on 28 June 2018

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

scientific article published in November 2017

De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects

scientific article published on 01 October 2019

De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype

scientific article published on 24 September 2016

De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype

scientific article published on January 2017

De Novo Variants in CDK19 Are Associated with a Syndrome Involving Intellectual Disability and Epileptic Encephalopathy

scientific article published on 21 April 2020

De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia

scientific article published on 18 July 2019

De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia

scientific article published on 01 September 2019

De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism

scientific article published on 15 July 2020

De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation

scientific article published on 19 March 2020

De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairment

scientific article published on 30 April 2020

Developing a genomics rotation: Practical training around variant interpretation for genetic counseling students

scientific article published on 01 February 2019

Diagnostic utility of transcriptome sequencing for rare Mendelian diseases

scientific article published on 14 October 2019

Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome

scientific article published on 01 June 2020

Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of 7 new subjects and review of the literature

scientific article published on 26 June 2020

Exome sequencing identifies de novo pathogenic variants in FBN1 and TRPS1 in a patient with a complex connective tissue phenotype.

scientific article published on January 2017

Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay

scientific article published on 20 December 2018

Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature review

scientific article published on 28 March 2019

GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder

scientific article published on 17 January 2020

Genotype-phenotype correlations in individuals with pathogenic RERE variants.

scientific article published on 13 January 2018

Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis

scientific article published on 05 May 2019

IRF2BPL Is Associated with Neurological Phenotypes

scientific article published on 01 September 2018

Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts

scientific article published on 03 June 2019

Kilquist syndrome: A novel syndromic hearing loss disorder caused by homozygous deletion of SLC12A2

scientific article published on 12 March 2019

Limitations of exome sequencing in detecting rare and undiagnosed diseases

scientific article published on 19 March 2020

Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration

scientific article published on 12 November 2018

Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification

scientific article published on 30 May 2019

Microdeletions excluding YWHAE and PAFAH1B1 cause a unique leukoencephalopathy: further delineation of the 17p13.3 microdeletion spectrum.

scientific article published on 20 December 2018

Mutations in GET4 disrupt the transmembrane domain recognition complex pathway

scientific article published on 12 May 2020

Myopathy associated with homozygous PYROXD1 pathogenic variants detected by genome sequencing

scientific article published on 09 February 2020

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling

scientific article published on 29 June 2019

Pathogenic Variants in Fucokinase Cause a Congenital Disorder of Glycosylation

scientific article published on 29 November 2018

Phenotypic expansion in - a common cause of intellectual disability in females

scientific article published on 15 September 2018

Phenotypic heterogeneity of ZMPSTE24 deficiency

scientific article published on 17 January 2018

Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis and treatment suggestions

scientific article published on 18 July 2020

Psychosocial Profiles of Parents of Children with Undiagnosed Diseases: Managing Well or Just Managing?

scientific article

Recurrent mosaic MTOR c.5930C > T (p.Thr1977Ile) variant causing megalencephaly, asymmetric polymicrogyria, and cutaneous pigmentary mosaicism: Case report and review of the literature

scientific article published on 19 December 2018

Reported environmental exposures are inversely associated with obtaining a genetic diagnosis in the Undiagnosed Diseases Network

scientific article published on 23 March 2019

Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region

scientific article published on 25 January 2019

The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease

scientific article

The genome empowerment scale: An assessment of parental empowerment in families with undiagnosed disease

scientific article published on 08 October 2019

The undiagnosed diseases program: Approach to diagnosis

scientific article published on 13 April 2020

Understanding Adult Participant and Parent Empowerment Prior to Evaluation in the Undiagnosed Diseases Network.

scientific article

VarSight: prioritizing clinically reported variants with binary classification algorithms

scientific article published on 15 October 2019

Whole genome sequencing reveals novel IGHMBP2 variant leading to unique cryptic splice-site and Charcot-Marie-Tooth phenotype with early onset symptoms

scientific article published on 25 April 2019

Yield of whole exome sequencing in undiagnosed patients facing insurance coverage barriers to genetic testing

scientific article published on 03 September 2019

novoCaller: a Bayesian network approach for de novo variant calling from pedigree and population sequence data

scientific article published on 01 April 2019

yippee like 3 (ypel3) is a novel gene required for myelinating and perineurial glia development

scientific article published on 16 June 2020

List of works by Undiagnosed Diseases Network

A New Approach to Rare Diseases of Children: The Undiagnosed Diseases Network

A Patient with Sjogren's Syndrome and Subsequent Diagnosis of Inclusion Body Myositis and Light-Chain Amyloidosis

A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation

A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay

A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3

A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative

A toolkit for genetics providers in follow-up of patients with non-diagnostic exome sequencing

A window into living with an undiagnosed disease: illness narratives from the Undiagnosed Diseases Network

Alternative transcripts in variant interpretation: the potential for missed diagnoses and misdiagnoses

Atypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytoma

Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder

Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder

Cases from the Undiagnosed Diseases Network: The continued value of counseling skills in a new genomic era

ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosis

Correction: Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome

Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder

De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects

De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype

De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype

De Novo Variants in CDK19 Are Associated with a Syndrome Involving Intellectual Disability and Epileptic Encephalopathy

De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia

De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia

De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism

De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation

De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairment

Developing a genomics rotation: Practical training around variant interpretation for genetic counseling students

Diagnostic utility of transcriptome sequencing for rare Mendelian diseases

Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome

Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of 7 new subjects and review of the literature

Exome sequencing identifies de novo pathogenic variants in FBN1 and TRPS1 in a patient with a complex connective tissue phenotype.

Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay

Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature review

GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder

Genotype-phenotype correlations in individuals with pathogenic RERE variants.

Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis

IRF2BPL Is Associated with Neurological Phenotypes

Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts

Kilquist syndrome: A novel syndromic hearing loss disorder caused by homozygous deletion of SLC12A2

Limitations of exome sequencing in detecting rare and undiagnosed diseases

Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration

Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification

Microdeletions excluding YWHAE and PAFAH1B1 cause a unique leukoencephalopathy: further delineation of the 17p13.3 microdeletion spectrum.

Mutations in GET4 disrupt the transmembrane domain recognition complex pathway

Myopathy associated with homozygous PYROXD1 pathogenic variants detected by genome sequencing

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling

Pathogenic Variants in Fucokinase Cause a Congenital Disorder of Glycosylation

Phenotypic expansion in - a common cause of intellectual disability in females

Phenotypic heterogeneity of ZMPSTE24 deficiency

Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis and treatment suggestions

Psychosocial Profiles of Parents of Children with Undiagnosed Diseases: Managing Well or Just Managing?

Recurrent mosaic MTOR c.5930C > T (p.Thr1977Ile) variant causing megalencephaly, asymmetric polymicrogyria, and cutaneous pigmentary mosaicism: Case report and review of the literature

Reported environmental exposures are inversely associated with obtaining a genetic diagnosis in the Undiagnosed Diseases Network

Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region

The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease

The genome empowerment scale: An assessment of parental empowerment in families with undiagnosed disease

The undiagnosed diseases program: Approach to diagnosis

Understanding Adult Participant and Parent Empowerment Prior to Evaluation in the Undiagnosed Diseases Network.

VarSight: prioritizing clinically reported variants with binary classification algorithms

Whole genome sequencing reveals novel IGHMBP2 variant leading to unique cryptic splice-site and Charcot-Marie-Tooth phenotype with early onset symptoms

Yield of whole exome sequencing in undiagnosed patients facing insurance coverage barriers to genetic testing

novoCaller: a Bayesian network approach for de novo variant calling from pedigree and population sequence data

yippee like 3 (ypel3) is a novel gene required for myelinating and perineurial glia development