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| 34878901 | Novel <i>CUL3</i> Variant Causing Familial Hyperkalemic Hypertension Impairs Regulation and Function of Ubiquitin Ligase Activity. | Hypertension | 2022 |
| 35483961 | A complete pedigree-based graph workflow for rare candidate variant analysis. | Genome Res | 2022 |
| 33970744 | Compound heterozygous <i>KCTD7</i> variants in progressive myoclonus epilepsy. | J Neurogenet | 2021 |
| 34723967 | FOXR1 regulates stress response pathways and is necessary for proper brain development. | PLoS Genet | 2021 |
| 34277935 | PARK7-Related Early Onset Parkinson Disease in the Setting of Complete Uniparental Isodisomy of Chromosome 1. | Neurol Genet | 2021 |
| 32403198 | GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome. | Ann Neurol | 2020 |
| 30700791 | A suite of automated sequence analyses reduces the number of candidate deleterious variants and reveals a difference between probands and unaffected siblings. | Genet Med | 2019 |
| 31155284 | Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification. | Am J Hum Genet | 2019 |
| 31125343 | Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype. | PLoS Genet | 2019 |
| 30830864 | PARP1 inhibition alleviates injury in ARH3-deficient mice and human cells. | JCI Insight | 2019 |
| 30362252 | Early infantile-onset epileptic encephalopathy 28 due to a homozygous microdeletion involving the WWOX gene in a region of uniparental disomy. | Hum Mutat | 2019 |
| 30385646 | Expanding the phenotype of COPA syndrome: a kindred with typical and atypical features. | J Med Genet | 2019 |
| 30548380 | Novel variants in SPTAN1 without epilepsy: An expansion of the phenotype. | Am J Med Genet A | 2018 |
| 30401460 | Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay. | Am J Hum Genet | 2018 |
| 30295347 | KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy-lysosome defect. | Ann Neurol | 2018 |
| 27748960 | BRF1 mutations in a family with growth failure, markedly delayed bone age, and central nervous system anomalies. | Clin Genet | 2017 |
| 29264551 | Aggrecan Mutations in Nonfamilial Short Stature and Short Stature Without Accelerated Skeletal Maturation. | J Endocr Soc | 2017 |
| 28675565 | Compound heterozygosity for loss-of-function GARS variants results in a multisystem developmental syndrome that includes severe growth retardation. | Hum Mutat | 2017 |
| 28603714 | Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program Experience. | Front Med (Lausanne) | 2017 |
| 28017372 | A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. | Am J Hum Genet | 2017 |
| 28041820 | Combined alpha-delta platelet storage pool deficiency is associated with mutations in GFI1B. | Mol Genet Metab | 2017 |
| 24555743 | Hereditary Benign Intraepithelial Dyskeratosis: Report of a Case and Re-examination of the Evidence for Locus Heterogeneity. | Ophthalmic Genet | 2016 |
| 26562225 | Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency. | Genet Med | 2016 |
| 27900370 | A patient with multisystem dysfunction carries a truncation mutation in human <i>SLC12A2</i>, the gene encoding the Na-K-2Cl cotransporter, NKCC1. | Cold Spring Harb Mol Case Stud | 2016 |
| 27568008 | Explorations to improve the completeness of exome sequencing. | BMC Med Genomics | 2016 |
| 26990090 | ATP1A3 Mutation in Adult Rapid-Onset Ataxia. | PLoS One | 2016 |
| 26795631 | A novel AVPR2 splice site mutation leads to partial X-linked nephrogenic diabetes insipidus in two brothers. | Eur J Pediatr | 2016 |
| 26846157 | The NIH Undiagnosed Diseases Program and Network: Applications to modern medicine. | Mol Genet Metab | 2016 |
| 25577287 | York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1. | Mol Genet Metab | 2015 |
| 26119818 | Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes. | Am J Hum Genet | 2015 |
| 25845469 | MED23-associated intellectual disability in a non-consanguineous family. | Am J Med Genet A | 2015 |
| 25888122 | Impaired osteoblast and osteoclast function characterize the osteoporosis of Snyder - Robinson syndrome. | Orphanet J Rare Dis | 2015 |
| 25943031 | Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors. | Mol Genet Metab | 2015 |
| 25678555 | Biallelic mutations in CAD, impair de novo pyrimidine biosynthesis and decrease glycosylation precursors. | Hum Mol Genet | 2015 |
| 24504326 | Functional analysis of a de novo GRIN2A missense mutation associated with early-onset epileptic encephalopathy. | Nat Commun | 2014 |
| 25347450 | Circulating fibrocytes as biomarker of prognosis in Hermansky-Pudlak syndrome. | Am J Respir Crit Care Med | 2014 |
| 24784157 | The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience. | Genet Med | 2014 |
| 24839611 | <i>GRIN2A</i> mutation and early-onset epileptic encephalopathy: personalized therapy with memantine. | Ann Clin Transl Neurol | 2014 |
| 24863970 | Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith-Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity. | Mol Genet Metab | 2014 |
| 23453856 | Novel SNP array analysis and exome sequencing detect a homozygous exon 7 deletion of MEGF10 causing early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD). | Neuromuscul Disord | 2013 |
| 24510651 | Genome-scale sequencing to identify genes involved in Mendelian disorders. | Curr Protoc Hum Genet | 2013 |
| 23856975 | Cultural differences define diagnosis and genomic medicine practice: implications for undiagnosed diseases program in China. | Front Med | 2013 |
| 23943650 | Diminutive somatic deletions in the 5q region lead to a phenotype atypical of classical 5q- syndrome. | Blood | 2013 |
| 23443029 | Recurrent subacute post-viral onset of ataxia associated with a PRF1 mutation. | Eur J Hum Genet | 2013 |
| 22146942 | Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration. | Eur J Hum Genet | 2012 |
| 23137569 | An apparent homozygous deletion in maltase-glucoamylase, a lesson in the evolution of SNP arrays. | Mol Genet Metab | 2012 |
| 22675082 | Exome sequencing as a diagnostic tool in a case of undiagnosed juvenile-onset GM1-gangliosidosis. | Neurology | 2012 |
| 22311686 | An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia. | Hum Mutat | 2012 |
| 22277120 | Sensitive quantification of mosaicism using high density SNP arrays and the cumulative distribution function. | Mol Genet Metab | 2012 |
| 22237431 | The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases. | Genet Med | 2012 |