Ellen F. Macnamara

发表

VarSight: prioritizing clinically reported variants with binary classification algorithms

Yong Huang, Alexa T. McCray, Pengfei Liu, 2019, BMC Bioinformatics.

Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation

Ellen F. Macnamara, C. Toro, W. Gahl, 2016, Genetics in Medicine.

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

Ellen F. Macnamara, M. Westerfield, D. Adams, 2020, PLoS genetics.

Defective ciliogenesis in INPP5E‐related Joubert syndrome

Ellen F. Macnamara, C. Toro, W. Gahl, 2017, American journal of medical genetics. Part A.

PUS7 deficiency in human patients causes profound neurodevelopmental phenotype by dysregulating protein translation.

Ellen F. Macnamara, Undiagnosed Diseases Network, C. Tifft, 2022, Molecular genetics and metabolism.

The Impact of Living with Klinefelter Syndrome: A Qualitative Exploration of Adolescents and Adults

Ellen F. Macnamara, B. Biesecker, H. Levy, 2017, Journal of Genetic Counseling.

Complex effects on CaV2.1 channel gating caused by a CACNA1A variant associated with a severe neurodevelopmental disorder

Ellen F. Macnamara, Michael F. Wangler, C. Tifft, 2022, Scientific Reports.

Characteristics of undiagnosed diseases network applicants: implications for referring providers

Matthew H. Brush, Sarah E. Gould, Jean M. Davidson, 2018, BMC Health Services Research.

Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy.

Matthew H. Brush, Mercedes E. Alejandro, Gabriel F. Batzli, 2019, Clinical imaging.

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

Matthew H. Brush, Trevor S. Frisby, Sarah E. Gould, 2017, Orphanet Journal of Rare Diseases.

Expanding the phenotype of COPA syndrome: a kindred with typical and atypical features

Ellen F. Macnamara, W. Gahl, T. Markello, 2018, Journal of Medical Genetics.

DYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literature

Ellen F. Macnamara, D. Adams, C. Tifft, 2020, Molecular genetics & genomic medicine.

Diagnosis and discovery: Insights from the NIH Undiagnosed Diseases Program

Ellen F. Macnamara, J. Mindell, D. Adams, 2022, Journal of inherited metabolic disease.

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

Ellen F. Macnamara, Harper B. Fauni, J. Holt, 2019, Human mutation.

Severe bleeding with subclinical oculocutaneous albinism in a patient with a novel HPS6 missense variant

Ellen F. Macnamara, W. Gahl, M. Malicdan, 2018, American journal of medical genetics. Part A.

Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay.

Ellen F. Macnamara, J. Lupski, E. Puffenberger, 2018, American journal of human genetics.

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

Ellen F. Macnamara, Colleen E. Wahl, J. Rosenfeld, 2018, American journal of human genetics.

Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain

William E. Byrd, Gabor T. Marth, David R. Murdock, 2020, Genetics in Medicine.

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

Sarah E. Gould, David R. Murdock, Jean M. Davidson, 2019, Nature Medicine.

Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network

Emily G. Kelley, Sharyn A. Lincoln, Ellen F. Macnamara, 2020, Molecular genetics & genomic medicine.

Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision

William E. Byrd, Gabor T. Marth, David R. Murdock, 2021, Orphanet Journal of Rare Diseases.

Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

William E. Byrd, Gabor T. Marth, David R. Murdock, 2021, Genetics in Medicine.

KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants

Marni J. Falk, Ellen F. Macnamara, J. Schuurs-Hoeijmakers, 2018, Genetics in Medicine.

SAS1B protein [ovastacin] shows temporal and spatial restriction to oocytes in several eutherian orders and initiates translation at the primary to secondary follicle transition

Ellen F. Macnamara, J. Shetty, J. Herr, 2013, Developmental dynamics : an official publication of the American Association of Anatomists.

Adult diagnosis of congenital serine biosynthesis defect: A treatable cause of progressive neuropathy

Ellen F. Macnamara, C. Toro, W. Gahl, 2021, American journal of medical genetics. Part A.

Parental Uncertainty About a Child’s Health Scale (PUCHS): Development and Validation of a Novel Measure

Ellen F. Macnamara, S. Woolford, B. Biesecker, 2023, Georgetown Medical Review.

Genomic analysis, immunomodulation and deep phenotyping of patients with nodding syndrome.

Ellen F. Macnamara, Harper B. Fauni, J. Derisi, 2022, Brain : a journal of neurology.

Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variation

Ellen F. Macnamara, Ryan K. Dale, Pedro P. Rocha, 2021, Science Advances.

Identification of Pathogenic Structural Variants in Rare Disease Patients through Genome Sequencing

Ellen F. Macnamara, Rebecca C. Spillmann, S. Nelson, 2019, bioRxiv.

Continuing a search for a diagnosis: the impact of adolescence and family dynamics

William E. Byrd, Marni J. Falk, Mahshid S. Azamian, 2023, Orphanet Journal of Rare Diseases.

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

Emily G. Kelley, Ellen F. Macnamara, K. Schoch, 2019, Journal of genetic counseling.

The undiagnosed diseases program: Approach to diagnosis

Ellen F. Macnamara, C. Tifft, Precilla D’Souza, 2019, Translational science of rare diseases.

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

Ellen F. Macnamara, M. Westerfield, D. Earl, 2018, American journal of human genetics.

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

Matthew H. Brush, David R. Murdock, Jean M. Davidson, 2019, Biological psychiatry.

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

Jean M. Davidson, Ellen F. Macnamara, Rebecca C. Spillmann, 2019, Journal of genetic counseling.

De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders.

Ellen F. Macnamara, L. Vissers, B. D. de Vries, 2019, American journal of human genetics.

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

William E. Byrd, Mercedes E. Alejandro, Mahshid S. Azamian, 2021, Genetics in Medicine.

Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, npj Genomic Medicine.

Novel variants in SPTAN1 without epilepsy: An expansion of the phenotype

Ellen F. Macnamara, J. Schmahmann, C. Tifft, 2018, American journal of medical genetics. Part A.

Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

William E. Byrd, Mercedes E. Alejandro, Mahshid S. Azamian, 2021, Genetics in Medicine.

A Comprehensive Iterative Approach is Highly Effective in Diagnosing Individuals who are Exome Negative

Matthew H. Brush, Sarah E. Gould, Jean M. Davidson, 2018, Genetics in Medicine.

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

Matthew H. Brush, Sarah E. Gould, Jean M. Davidson, 2018, American journal of human genetics.

Regulation of human development by ubiquitin chain editing of chromatin remodelers

Ellen F. Macnamara, Ryan K. Dale, Pedro P. Rocha, 2020, bioRxiv.

Clinical sites of the Undiagnosed Diseases Network: Unique contributions to genomic medicine and science

William E. Byrd, Gabor T. Marth, David R. Murdock, 2020, Genetics in Medicine.

One is the loneliest number: genotypic matchmaking using the electronic health record

Leigh Anne Tang, Mercedes E. Alejandro, Mahshid S. Azamian, 2021, Genetics in Medicine.

Progressive cerebellar atrophy in a patient with complex II and III deficiency and a novel deleterious variant in SDHA: A Counseling Conundrum

Eliza M. Gordon-Lipkin, Ellen F. Macnamara, P. McGuire, 2021, Molecular genetics & genomic medicine.

De Novo Variants in MRTFB have gain of function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features

Ellen F. Macnamara, Michael F. Wangler, H. Bellen, 2022, bioRxiv.

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

Ellen F. Macnamara, M. Westerfield, D. Adams, 2020, PLoS genetics.

Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis.

Ellen F. Macnamara, Barbara N. Pusey, J. Rosenfeld, 2023, American journal of human genetics.

Prospective phenotyping of long-term survivors of Generalized Arterial Calcification of Infancy (GACI)

Ellen F. Macnamara, E. Chew, E. Dikoglu, 2020, Genetics in Medicine.

Functional analysis of a de novo variant in the neurodevelopment and generalized epilepsy disease gene NBEA.

Ellen F. Macnamara, T. Schedl, A. Soldatos, 2021, Molecular genetics and metabolism.

Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice

Ellen F. Macnamara, J. Constantino, J. Graham, 2023, Science advances.

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

William E. Byrd, David R. Murdock, Marni J. Falk, 2020, Brain : a journal of neurology.

An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

William E. Byrd, Gabor T. Marth, David R. Murdock, 2020, Genetics in Medicine.

Bi-allelic variants in INTS11 are associated with a complex neurological disorder.

William E. Byrd, Marni J. Falk, Mahshid S. Azamian, 2023, American journal of human genetics.

De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus.

Ellen F. Macnamara, E. Eklund, C. Toro, 2021, Brain : a journal of neurology.

Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care.

William E. Byrd, Marni J. Falk, Laurel A. Cobban, 2023, The Journal of pediatrics.

Participation in a national diagnostic research study: assessing the patient experience

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, Orphanet Journal of Rare Diseases.

MYH2-associated myopathy caused by a novel splice-site variant

Rena A. Godfrey, Ellen F. Macnamara, C. Toro, 2022, Neuromuscular Disorders.

TMEM161B regulates cerebral cortical gyration, Sonic Hedgehog signaling, and ciliary structure in the developing central nervous system

E. M. DeGennaro, Sarah E. Gould, David R. Murdock, 2023, Proceedings of the National Academy of Sciences of the United States of America.

De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling.

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, American journal of human genetics.

HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder.

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, American journal of human genetics.

The contribution of mosaicism to genetic diseases and de novo pathogenic variants

Ellen F. Macnamara, J. Rosenfeld, L. Bastarache, 2023, American journal of medical genetics. Part A.

De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders.

Ellen F. Macnamara, L. Vissers, B. D. de Vries, 2019, American journal of human genetics.

VarSight: prioritizing clinically reported variants with binary classification algorithms

Gabor T. Marth, David R. Murdock, Alexander C. Moss, 2019, BMC Bioinformatics.

Clinical, genetic, and structural characterization of a novel TUBB4B tubulinopathy

Ellen F. Macnamara, D. Sept, W. Gahl, 2023, Molecular genetics and metabolism reports.

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

Matthew H. Brush, Gabor T. Marth, John Arul Phillips, 2019, American journal of human genetics.

Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies.

Lisa T. Emrick, Ellen F. Macnamara, S. Lalani, 2024, Human genetics.