P1416
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3A window into living with an undiagnosed disease: illness narratives from the Undiagnosed Diseases NetworkDe Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.Exome sequencing identifies de novo pathogenic variants in FBN1 and TRPS1 in a patient with a complex connective tissue phenotype.The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease.A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.Psychosocial Profiles of Parents of Children with Undiagnosed Diseases: Managing Well or Just Managing?Genotype-phenotype correlations in individuals with pathogenic RERE variants.Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.Understanding Adult Participant and Parent Empowerment Prior to Evaluation in the Undiagnosed Diseases Network.A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan GlycosylationA comprehensive iterative approach is highly effective in diagnosing individuals who are exome negativeDe Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic FeaturesPhenotypic heterogeneity of ZMPSTE24 deficiencyPhenotypic expansion in - a common cause of intellectual disability in femalesIRF2BPL Is Associated with Neurological PhenotypesExpanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental DelayA toolkit for genetics providers in follow-up of patients with non-diagnostic exome sequencingCases from the Undiagnosed Diseases Network: The continued value of counseling skills in a new genomic eraClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosisMicrodeletions excluding YWHAE and PAFAH1B1 cause a unique leukoencephalopathy: further delineation of the 17p13.3 microdeletion spectrum.Myopathy associated with homozygous PYROXD1 pathogenic variants detected by genome sequencingCorrection: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorderPathogenic Variants in Fucokinase Cause a Congenital Disorder of GlycosylationWhole genome sequencing reveals novel IGHMBP2 variant leading to unique cryptic splice-site and Charcot-Marie-Tooth phenotype with early onset symptomsLimitations of exome sequencing in detecting rare and undiagnosed diseasesAtypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytomaDe Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital DefectsDe novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic DecompensationDominant-negative mutations in human IL6ST underlie hyper-IgE syndromeRecurrent mosaic MTOR c.5930C > T (p.Thr1977Ile) variant causing megalencephaly, asymmetric polymicrogyria, and cutaneous pigmentary mosaicism: Case report and review of the literatureDiagnostic utility of transcriptome sequencing for rare Mendelian diseasesVarSight: prioritizing clinically reported variants with binary classification algorithmsSpectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding regionnovoCaller: a Bayesian network approach for de novo variant calling from pedigree and population sequence dataDeveloping a genomics rotation: Practical training around variant interpretation for genetic counseling studentsKilquist syndrome: A novel syndromic hearing loss disorder caused by homozygous deletion of SLC12A2Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis
P50
Q29147508-F33DCA11-9AEA-4F35-9816-462BF1F48A50Q33568260-7CE2F721-F994-4348-9615-6BD1F47591E5Q37342092-B42E1627-6234-4157-98E7-4EA7985F39AEQ37518635-DC56E104-34A4-458D-B748-70946872F223Q38373599-EA62574A-4429-4C43-A03C-00D50BB83F06Q41920971-8FE65718-9068-4F3C-BE5E-C73F84CA6DB2Q42332113-2E0328E5-9502-45E1-BECD-431A1574D111Q46039393-53EB070E-D70B-4F23-AAA3-9DD04A5F40D4Q47664781-444E1795-9BA1-4C9C-900A-AD5DE7927E21Q47866259-ECFFE007-EC7A-43EB-A05F-78FF0BF9FFCEQ50421965-F5B7BDE2-976B-4321-8680-8268F0736BD4Q53840197-BE1F44E2-AC0F-42A5-980B-142FF5171D5AQ57023915-8A888846-99CB-4646-8B72-0B6883361A00Q57306570-8CFD8547-4F51-40DC-A890-745BA2969FC0Q57761594-4AC50763-206E-4F21-9094-8AF35E8E3608Q57761604-714ADB38-9E28-4396-90F0-6B6D6A6E5BE2Q57822097-B201B284-0BA9-47CF-9267-05F20FB556EEQ58761689-FFA9C60F-46C0-4516-8A13-F4F869E80743Q60942128-B5E5F6E2-850C-4FD6-83F6-727A56A4CDA5Q64039577-F6B22BF5-8662-40A2-AEDC-0E16FE90EBE8Q64041158-596D96C2-9C1A-44A0-87A9-561EB129FDACQ64120476-42D6C333-C36A-4334-AC7E-016D329016CAQ64939761-5C3E791B-8B38-4AE3-9098-6FA8F381A539Q89617304-FA265A32-B39A-47A5-BCE1-CEEDE884B2B1Q89665245-B5CEBEA7-1F9F-4C19-8A5F-822BDECC1277Q90023472-744453F0-8CD6-4386-87B5-272CF1621E08Q90295099-51EA5EA1-DB63-4B78-BDCB-37ED3F32571EQ90453482-A2B1D7EE-8053-427A-8775-EF22A0C2B754Q90480163-32F5E0E8-7AEF-4076-B624-20B982BECD14Q90484226-209A6102-977F-4D5C-A3CF-4A97A4EEE52DQ90516129-1E04BBDE-1AC8-4910-8CD4-4AE52EF9BA28Q90619838-6FC40F8C-5EDD-4BAD-A956-3AD23101D81FQ90657613-92F4CB81-1D7A-4915-8ABD-887B72CF2FCDQ90679190-74CB6EB8-9F4F-47A8-8EBD-53F9B4B8AF6EQ90727035-8B59731C-BA0B-4411-8C6B-7EC2623F6AE6Q91222666-E0287BC4-FDF3-48A5-921B-8FA7D3170C72Q91250299-46792AE2-055A-4813-8895-7A3529E70217Q91302525-967F87F0-1594-45F4-8C38-B2ADEE41F824Q91445047-370ABCAB-54D0-485B-924B-FC7693836005Q91544954-BE9A0ADF-C032-4C28-BE10-FEF045D1B27B
P50
description
US-amerikanische Organisation
@de
investigación que utiliza la i ...... s de enfermedades poco comúnes
@es
organisaatio
@fi
organisatie uit Verenigde Staten van Amerika
@nl
organizatë
@sq
research study using medical informatics to diagnose rare diseases
@en
name
Undiagnosed Diseases Network
@en
Undiagnosed Diseases Network
@es
type
label
Undiagnosed Diseases Network
@en
Undiagnosed Diseases Network
@es
altLabel
Programa para Enfermedades No Diagnosticadas
@es
prefLabel
Undiagnosed Diseases Network
@en
Undiagnosed Diseases Network
@es