|
| 36481303 | A concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases Network. | Genet Med | 2023 |
| 37667351 | Parental perspectives of episodic irritability in an ultra-rare genetic disorder associated with NACC1. | Orphanet J Rare Dis | 2023 |
| 37191094 | Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy. | Genet Med | 2023 |
| 37005744 | Unraveling non-participation in genomic research: A complex interplay of barriers, facilitators, and sociocultural factors. | J Genet Couns | 2023 |
| 36706750 | Exome/Genome Sequencing in Undiagnosed Syndromes. | Annu Rev Med | 2023 |
| 34115423 | Clinical application of a scale to assess genomic healthcare empowerment (GEmS): Process and illustrative case examples. | J Genet Couns | 2022 |
| 35405010 | The microRNA processor DROSHA is a candidate gene for a severe progressive neurological disorder. | Hum Mol Genet | 2022 |
| 36317458 | A recurrent single-exon deletion in TBCK might be under-recognized in patients with infantile hypotonia and psychomotor delay. | Hum Mutat | 2022 |
| 35051358 | Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder. | Am J Hum Genet | 2022 |
| 32901138 | A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome. | Eur J Hum Genet | 2021 |
| 33864376 | Rare deleterious de novo missense variants in Rnf2/Ring2 are associated with a neurodevelopmental disorder with unique clinical features. | Hum Mol Genet | 2021 |
| 34042254 | TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study. | Am J Med Genet A | 2021 |
| 32015465 | Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion. | Mol Psychiatry | 2021 |
| 32366967 | Alternative transcripts in variant interpretation: the potential for missed diagnoses and misdiagnoses. | Genet Med | 2020 |
| 31870554 | Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects. | Am J Hum Genet | 2020 |
| 32730690 | Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network. | Mol Genet Genomic Med | 2020 |
| 30514889 | ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosis. | Genet Med | 2019 |
| 29907797 | A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative. | Genet Med | 2019 |
| 31264822 | Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis. | Hum Mutat | 2019 |
| 31448412 | The genome empowerment scale: An assessment of parental empowerment in families with undiagnosed disease. | Clin Genet | 2019 |
| 31478310 | Yield of whole exome sequencing in undiagnosed patients facing insurance coverage barriers to genetic testing. | J Genet Couns | 2019 |
| 30680851 | Cases from the Undiagnosed Diseases Network: The continued value of counseling skills in a new genomic era. | J Genet Couns | 2019 |
| 28914269 | Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases. | Genet Med | 2018 |
| 30134969 | Characteristics of undiagnosed diseases network applicants: implications for referring providers. | BMC Health Serv Res | 2018 |
| 30420557 | Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration. | EMBO J | 2018 |
| 29726930 | Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder. | Hum Mol Genet | 2018 |
| 29497923 | Understanding Adult Participant and Parent Empowerment Prior to Evaluation in the Undiagnosed Diseases Network. | J Genet Couns | 2018 |
| 29297108 | Psychosocial Profiles of Parents of Children with Undiagnosed Diseases: Managing Well or Just Managing? | J Genet Couns | 2018 |
| 28061364 | De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype. | Am J Hum Genet | 2017 |
| 28416019 | A window into living with an undiagnosed disease: illness narratives from the Undiagnosed Diseases Network. | Orphanet J Rare Dis | 2017 |
| 28132692 | A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay. | Am J Hum Genet | 2017 |
| 28794409 | Annotating pathogenic non-coding variants in genic regions. | Nat Commun | 2017 |
| 27899421 | The importance of dynamic re-analysis in diagnostic whole exome sequencing. | J Med Genet | 2017 |
| 25678066 | Practical considerations in the clinical application of whole-exome sequencing. | Clin Genet | 2016 |
| 26578232 | Communication of Psychiatric Risk in 22q11.2 Deletion Syndrome: A Pilot Project. | J Genet Couns | 2016 |
| 27693232 | De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype. | Am J Hum Genet | 2016 |
| 27267311 | Epilepsy in KCNH1-related syndromes. | Epileptic Disord | 2016 |
| 27545680 | De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome. | Am J Hum Genet | 2016 |
| 26868367 | Not the End of the Odyssey: Parental Perceptions of Whole Exome Sequencing (WES) in Pediatric Undiagnosed Disorders. | J Genet Couns | 2016 |
| 25059276 | A tale worth telling: the impact of the diagnosis experience on disclosure of genetic disorders. | J Intellect Disabil Res | 2015 |
| 27148562 | Sustained therapeutic response to riboflavin in a child with a progressive neurological condition, diagnosed by whole-exome sequencing. | Cold Spring Harb Mol Case Stud | 2015 |
| 27148561 | Exome sequencing results in successful riboflavin treatment of a rapidly progressive neurological condition. | Cold Spring Harb Mol Case Stud | 2015 |
| 25871427 | Social cognitive training in adolescents with chromosome 22q11.2 deletion syndrome: feasibility and preliminary effects of the intervention. | J Intellect Disabil Res | 2015 |
| 25823418 | Additional evidence that PGAP1 loss of function causes autosomal recessive global developmental delay and encephalopathy. | Clin Genet | 2015 |
| 25540895 | Parental Communication and Experiences and Knowledge of Adolescent Siblings of Children with 22q11.2 Deletion Syndrome. | J Genet Couns | 2015 |
| 25590979 | Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios. | Genet Med | 2015 |
| 25256757 | The RBMX gene as a candidate for the Shashi X-linked intellectual disability syndrome. | Clin Genet | 2015 |
| 22572413 | Applicability of the nonverbal learning disability paradigm for children with 22q11.2 deletion syndrome. | J Learn Disabil | 2014 |
| 24651605 | Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway. | Genet Med | 2014 |
| 23742203 | Association of the family environment with behavioural and cognitive outcomes in children with chromosome 22q11.2 deletion syndrome. | J Intellect Disabil Res | 2014 |