C. Brownstein

发表

Potential for electronic health records and online social networking to redefine medical research.

J. Brownstein, J. F. Pearson, C. Brownstein, 2011, Clinical chemistry.

G.O.2 Mutations in LMOD3 cause severe nemaline myopathy by disrupting thin filament organisation in skeletal muscle

E. Bertini, K. Pelin, M. Lek, 2014, Neuromuscular Disorders.

Sharing Health Data for Better Outcomes on PatientsLikeMe

J. Frost, M. Massagli, P. Wicks, 2010, Journal of medical Internet research.

The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery

Orion J. Buske, Danielle R Azzariti, G. J. Swaminathan, 2015, Human mutation.

Perceived benefits of sharing health data between people with epilepsy on an online platform

M. Massagli, P. Wicks, J. Heywood, 2012, Epilepsy & Behavior.

Drosophila functional screening of de novo variants in autism uncovers deleterious variants and facilitates discovery of rare neurodevelopmental diseases

Michael F. Wangler, Nele A. Haelterman, Jill A. Madden, 2021, bioRxiv.

Withdrawn Article

Niklas Smedemark-Margulies, C. Brownstein, W. Gahl, 2019, Molecular Genetics and Metabolism Reports.

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy.

S. Gabriel, M. Daly, D. MacArthur, 2014, The Journal of clinical investigation.

SLC6A1 Mutation and Ketogenic Diet in Epilepsy With Myoclonic-Atonic Seizures.

C. Brownstein, A. Beggs, P. Pearl, 2016, Pediatric neurology.

A translocation causing increased α-Klotho level results in hypophosphatemic rickets and hyperparathyroidism

C. Brownstein, R. Lifton, C. Nelson-Williams, 2008, Proceedings of the National Academy of Sciences.

Clinical management of patients with ASXL1 mutations and Bohring–Opitz syndrome, emphasizing the need for Wilms tumor surveillance

L. Biesecker, J. Graham, C. Brownstein, 2015, American journal of medical genetics. Part A.

Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome

B. D. de Vries, T. Matise, E. Boerwinkle, 2020, American journal of medical genetics. Part A.

A homozygous stop-gain variant in ARHGAP42 is associated with childhood interstitial lung disease, systemic hypertension, and immunological findings

Jill A. Madden, C. Brownstein, K. Schmitz‐Abe, 2021, PLoS genetics.

Novel CAPN1 missense variants in complex hereditary spastic paraplegia with early‐onset psychosis

C. Brownstein, M. Sahin, M. Gorman, 2022, Annals of clinical and translational neurology.

ITSN1: a novel candidate gene involved in autosomal dominant neurodevelopmental disorder spectrum

I. Thiffault, C. Brownstein, A. Bayat, 2021, European journal of human genetics : EJHG.

An Unusual Case of Rickets and How Whole Exome Sequencing Helped to Correct a Diagnosis

C. Brownstein, P. Agrawal, K. Insogna, 2016 .

Increased bone volume and correction of HYP mouse hypophosphatemia in the Klotho/HYP mouse.

C. Brownstein, R. Lifton, Junhui Zhang, 2010, Endocrinology.

Homozygous EEF1A2 mutation causes dilated cardiomyopathy, failure to thrive, global developmental delay, epilepsy and early death

C. Brownstein, A. Beggs, S. Morton, 2017, Human molecular genetics.

Integration of a standardized pharmacogenomic platform for clinical decision support at Boston Children's Hospital

Wendy A. Wolf, V. Fusaro, K. Mandl, 2012, BMC Proceedings.

SCN1A variants associated with sudden infant death syndrome

Christopher H. Thompson, C. H. Thompson, H. Kinney, 2018, Epilepsia.

A novel missense mutation in TFAP2B associated with Char syndrome and central diabetes insipidus

P. Grant, C. Brownstein, M. Kenna, 2019, American journal of medical genetics. Part A.

D. Glahn, L. Almasy, A. Alexander-Bloch, 2022, The American journal of psychiatry.

The Phenotypic Continuum of ATPLA3-Related Disorders.

Alison M. Male, S. Sisodiya, C. Brownstein, 2022, Neurology.

Congenital Heart Defects Due to TAF1 Missense Variants.

Jill A. Madden, J. Seidman, C. Brownstein, 2020, Circulation Genomic and Precision Medicine.

Withdrawn Article

Niklas Smedemark-Margulies, C. Brownstein, W. Gahl, 2019, Astronomy & Astrophysics.

16p13.11 deletion variants associated with neuropsychiatric disorders cause morphological and synaptic changes in induced pluripotent stem cell-derived neurons

C. Brownstein, N. Makhortova, K. Winden, 2022, Frontiers in Psychiatry.

Whole exome sequencing identifies RAI1 mutation in a morbidly obese child diagnosed with ROHHAD syndrome.

Meghan C Towne, J. Hirschhorn, C. Brownstein, 2015, The Journal of clinical endocrinology and metabolism.

Copy Number Variation and Structural Genomic Findings in 116 Cases of Sudden Unexplained Death between 1 and 28 Months of Age

C. Brownstein, I. Holm, S. Jacquemont, 2022, Advanced genetics.

Data Sharing in the Undiagnosed Diseases Network

C. Brownstein, I. Holm, R. Ramoni, 2015, Human mutation.

A de novo BRPF1 variant in a case of Sudden Unexplained Death in Childhood.

C. Brownstein, I. Holm, C. Geffre, 2020, European journal of medical genetics.

The Interface Between Rare Genetic Variation, Psychosis, and Trauma

C. Brownstein, A. Torres, J. Gonzalez-Heydrich, 2018, Pediatric Neuropsychiatry.

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

Meghan C Towne, Sharyn A. Lincoln, Stephan J Sanders, 2017, American journal of human genetics.

Genetic Predisposition to Neurological Complications in Patients with COVID-19

A. Hoischen, M. Zody, A. Randolph, 2023, Biomolecules.

The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States

D. MacArthur, M. Lek, C. Brownstein, 2016, Journal of Human Genetics.

Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy.

E. Bertini, F. Muntoni, R. Bryson-Richardson, 2013, American journal of human genetics.

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy.

S. Gabriel, M. Daly, D. MacArthur, 2015, The Journal of clinical investigation.

The power of social networking in medicine

Paul Wicks, John S Brownstein, Catherine A Brownstein, 2009, Nature Biotechnology.

Mendelian Disorders in an Interstitial Cystitis/Bladder Pain Syndrome Cohort

C. Brownstein, A. Beggs, L. Kunkel, 2022, Advanced genetics.

Children’s rare disease cohorts: an integrative research and clinical genomics initiative

David A. Williams, Piotr Sliz, Lily Wang, 2020, npj Genomic Medicine.

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

Adam P. DeLuca, Matthew S. Lebo, Janeen L Andorf, 2014, Genome Biology.

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

Daniel Nilsson, Peter Szolovits, Karen Eilbeck, 2014, Genome Biology.

De novo ATP1A3 and compound heterozygous NLRP3 mutations in a child with autism spectrum disorder, episodic fatigue and somnolence, and muckle-wells syndrome

Niklas Smedemark-Margulies, K. Maski, C. Brownstein, 2018, Molecular genetics and metabolism reports.

Current knowledge of SLC6A1-related neurodevelopmental disorders

A. Scimemi, V. Crunelli, C. Brownstein, 2020, Brain communications.

Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this condition.

Meghan C Towne, Lovelace J. Luquette, C. Brownstein, 2013, European journal of medical genetics.

RCL1 copy number variants are associated with a range of neuropsychiatric phenotypes

S. Scherer, J. Rosenfeld, J. Howe, 2021, Molecular Psychiatry.

Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases

Francisco M. De La Vega, Kiely N. James, S. Kingsmore, 2021, Genome Medicine.

Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases

Michael F. Wangler, Nele A. Haelterman, Jill A. Madden, 2022, Cell reports.

ITSN1: a novel candidate gene involved in autosomal dominant neurodevelopmental disorder spectrum

I. Thiffault, C. Brownstein, A. Bayat, 2021, European Journal of Human Genetics.

A data-driven architecture using natural language processing to improve phenotyping efficiency and accelerate genetic diagnoses of rare disorders

John Reynders, Jignesh R. Parikh, Piotr Sliz, 2021, HGG advances.

A novel de novo mutation in ATP1A3 and childhood-onset schizophrenia

Meghan C Towne, Catherine A. Brownstein, Pankaj B. Agrawal, 2016, Cold Spring Harbor molecular case studies.

De novo variant in KIF26B is associated with pontocerebellar hypoplasia with infantile spinal muscular atrophy

A. Fatemi, V. Narayanan, C. Brownstein, 2018, American journal of medical genetics. Part A.

The role of sodium channels in sudden unexpected death in pediatrics

C. Brownstein, I. Holm, E. Pérez-Palma, 2018, bioRxiv.

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

M. Wheeler, G. Bejerano, C. Brownstein, 2018, bioRxiv.

AIFM1 mutation presenting with fatal encephalomyopathy and mitochondrial disease in an infant

Sanjay P. Prabhu, Matthew N. Bainbridge, Catherine A. Brownstein, 2017, Cold Spring Harbor molecular case studies.

Mendelian etiologies identified with whole exome sequencing in cerebral palsy

A. O’Donnell-Luria, C. Brownstein, L. Swanson, 2022, Annals of clinical and translational neurology.

Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes

Jill A. Madden, A. O’Donnell-Luria, C. Brownstein, 2019, European Journal of Human Genetics.

Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes

Catherine A Brownstein, Alan H Beggs, Timothy W Yu, 2019, European Journal of Human Genetics.

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

Undiagnosed Diseases Network, M. Wheeler, G. Bejerano, 2018, Genetics in Medicine.

Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy.

F. Muntoni, C. Brownstein, F. Alkuraya, 2013, American journal of human genetics.

Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy

M. Wegner, C. Brownstein, A. Beggs, 2017, Muscle and Nerve.

Reanalysis of clinical exome identifies the second variant in two individuals with recessive disorders

Jill A. Madden, C. Brownstein, A. Beggs, 2023, European Journal of Human Genetics.

Children’s rare disease cohorts: an integrative research and clinical genomics initiative

C. Brownstein, Andrew Quitadamo, T. Yu, 2020, npj Genomic Medicine.

Overlapping 16p13.11 deletion and gain of copies variations associated with childhood onset psychosis include genes with mechanistic implications for autism associated pathways: Two case reports

Yiping Shen, Va Lip, Catherine A Brownstein, 2016, American journal of medical genetics. Part A.

Underrepresentation of Phenotypic Variability of 16p13.11 Microduplication Syndrome Assessed With an Online Self-Phenotyping Tool (Phenotypr): Cohort Study

J. Brownstein, M. Haendel, C. Brownstein, 2020, Journal of medical Internet research.

Early role for a Na+,K+-ATPase (ATP1A3) in brain development

C. Walsh, S. Mccarroll, Melissa Goldman, 2021, Proceedings of the National Academy of Sciences.

Monogenic Hashimoto thyroiditis associated with a variant in the thyroglobulin (TG) gene.

Meghan C Towne, T. Chatila, C. Brownstein, 2018, Journal of autoimmunity.

De novo variant of TRRAP in a patient with very early onset psychosis in the context of non-verbal learning disability and obsessive-compulsive disorder: a case report

M. Bainbridge, C. Brownstein, A. Beggs, 2018, BMC Medical Genetics.

An assessment of clinician and researcher needs for support in the era of genomic medicine.

J. Stoler, C. Brownstein, I. Holm, 2014, Personalized medicine.

Children with Early-Onset Psychosis Have Increased Burden of Rare GRIN2A Variants

D. Glahn, Richard Smith, C. Brownstein, 2023, Genes.

Host genome analysis of structural variations by Optical Genome Mapping provides clinically valuable insights into genes implicated in critical immune, viral infection, and viral replication pathways in patients with severe COVID-19.

A. Hoischen, V. Bafna, M. Zody, 2021, medRxiv.

Using social media listening to understand barriers to genomic medicine for those living with Ehlers–Danlos syndromes and hypermobility spectrum disorders

C. Brownstein, Erica Payton, Aleah Goldin, 2023, Health expectations : an international journal of public participation in health care and health policy.

Plain-language medical vocabulary for precision diagnosis

Tudor Groza, Michael Bamshad, Chris Mungall, 2018, Nature Genetics.

Estimating excess mortality in post-invasion Iraq.

J. Brownstein, C. Brownstein, 2008, The New England journal of medicine.

Role for the Na+/K+ ATPase pump alpha 3 (ATP1A3) subunit in folding and lamination of the human neocortex

C. Walsh, S. Mccarroll, Melissa Goldman, 2020 .

Optical genome mapping identifies rare structural variations as predisposition factors associated with severe COVID-19

A. Hoischen, V. Bafna, M. Zody, 2022, iScience.

The Potential Research Impact of Patient Reported Outcomes on Osteogenesis Imperfecta

Paul Wicks, Catherine A Brownstein, P. Wicks, 2010, Clinical orthopaedics and related research.

Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two Individuals.

Meghan C Towne, S. Ferdinandusse, C. Brownstein, 2018, JIMD reports.

Clinical heterogeneity associated with KCNA1 mutations include cataplexy and nonataxic presentations

Meghan C Towne, C. Brownstein, A. Beggs, 2015, neurogenetics.

Returning Individual Research Results from Digital Phenotyping in Psychiatry

Adam S. Miner, Francis X. Shen, C. Grady, 2023, The American journal of bioethics : AJOB.

Genetic Determinants of Sudden Unexpected Death in Pediatrics.

C. Brownstein, I. Holm, A. Poduri, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Hippocampal Formation Maldevelopment and Sudden Unexpected Death across the Pediatric Age Spectrum

H. Kinney, S. Warfield, L. Sleeper, 2016, Journal of neuropathology and experimental neurology.

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

Gill Bejerano, Johannes Birgmeier, Cole A. Deisseroth, 2018, Genetics in Medicine.

P362: Newborn with 4 syndromes (Down, Turner, Xp11.22 duplication and 3q duplication) characterized by G-banding, FISH, microarray and optical genome mapping

C. Brownstein, Jie Xu, C. Melver, 2023, Genetics in Medicine Open.

Genetic Determinants of Sudden Unexpected Death in Pediatrics.

C. Brownstein, I. Holm, A. Poduri, 2021, Genetics in medicine : official journal of the American College of Medical Genetics.

Creating a scalable clinical pharmacogenomics service with automated interpretation and medical record result integration – experience from a pediatric tertiary care facility

Kenneth D. Mandl, Vincent A. Fusaro, Jared B. Hawkins, 2017, J. Am. Medical Informatics Assoc..

Concordance between site of onset and limb dominance in amyotrophic lateral sclerosis

A Al-Chalabi, M. Massagli, A. Al-Chalabi, 2010, Journal of Neurology, Neurosurgery & Psychiatry.

Estimating excess mortality in post-invasion Iraq.

J. Brownstein, C. Brownstein, 2008, The New England journal of medicine.

The Potential Research Impact of Patient Reported Outcomes on Osteogenesis Imperfecta

P. Wicks, C. Brownstein, 2010, Clinical orthopaedics and related research.

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy.

S. Gabriel, M. Daly, D. MacArthur, 2014, The Journal of clinical investigation.

The Phenotypic Continuum of ATP1A3-Related Disorders

Alison M. Male, S. Sisodiya, C. Brownstein, 2022, Neurology.