C. Toro

发表

Analysis of DNA sequence variants detected by high‐throughput sequencing

J. Mullikin, D. Adams, M. Sincan, 2012, Human mutation.

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

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

Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency

Damian Smedley, Michael Brudno, Julius O. B. Jacobsen, 2015, Genetics in Medicine.

Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia

Hagai Bergman, Dagmar Wieczorek, Zvi Israel, 2016, Nature Genetics.

Facial Onset Sensory and Motor Neuronopathy

A. Al-Chalabi, L. H. van den Berg, M. V. van Es, 2020, Neurology. Clinical practice.

Facial Onset Sensory and Motor Neuronopathy

A. Al-Chalabi, L. H. van den Berg, M. V. van Es, 2020, Neurology. Clinical practice.

The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases

Rena A. Godfrey, Colleen E. Wahl, K. F. Fajardo, 2011, Genetics in Medicine.

Novel pathogenic COX20 variants causing dysarthria, ataxia, and sensory neuropathy

J. Graham, K. Mathews, T. Pierson, 2018, Annals of clinical and translational neurology.

ATP6V1H Deficiency Impairs Bone Development through Activation of MMP9 and MMP13

V. Maduro, C. Toro, C. Boerkoel, 2017, PLoS genetics.

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.

Emerging molecular mechanisms of vascular dementia

C. Toro, M. Iruela-Arispe, Milagros C. Romay, 2019, Current opinion in hematology.

Systematic analysis of physical examination characteristics of 94 individuals with Joubert syndrome: Keys to suspecting the diagnosis

C. Toro, W. Gahl, W. Zein, 2022, American journal of medical genetics. Part C, Seminars in medical genetics.

Novel mutations in CLN6 cause late-infantile neuronal ceroid lipofuscinosis without visual impairment in two unrelated patients.

B. Behnam, D. Adams, C. Toro, 2019, Molecular genetics and metabolism.

Defective ciliogenesis in INPP5E‐related Joubert syndrome

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

A feasibility study of mHealth and wearable technology in late onset GM2 gangliosidosis (Tay-Sachs and Sandhoff Disease)

C. Toro, C. Tifft, E. Davies, 2020, Orphanet Journal of Rare Diseases.

Complex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disability

Barbara N. Pusey, P. Stankiewicz, J. Mullikin, 2016, Orphanet Journal of Rare Diseases.

Chediak-Higashi syndrome: a review of the past, present, and future.

C. Toro, M. Malicdan, Prashant Sharma, 2020, Drug discovery today. Disease models.

Potential therapeutic response in a severe case of autosomal dominant osteopetrosis type I

D. Adams, C. Toro, W. Gahl, 2022, Journal of Translational Genetics and Genomics.

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.

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.

Octanoic acid in alcohol-responsive essential tremor

Dietrich Haubenberger, Mark Hallett, Peter Buchwald, 2013, Neurology.

Desmoplastic Small Round Cell Tumor . A Case Report and Literature

C. Toro, G. L. A. Dávila, Ángela María Puerta Rico, 2021 .

PARP1 inhibition alleviates injury in ARH3-deficient mice and human cells.

D. Adams, C. Toro, W. Gahl, 2019, JCI insight.

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.

TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy

Janice S. Lee, F. Collins, E. Jabs, 2021, Human Genetics.

Genomic deletions upstream of lamin B1 lead to atypical autosomal dominant leukodystrophy

M. Spielmann, C. Toro, W. Gahl, 2019, Neurology: Genetics.

DARS-associated leukoencephalopathy can mimic a steroid-responsive neuroinflammatory disorder

A. Vanderver, R. Taft, C. Toro, 2015, Neurology.

Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome

Alexander H. Yang, D. Kastner, H. Takada, 2022, Annals of the Rheumatic Diseases.

Lysosomal abnormalities in hereditary spastic paraplegia types SPG15 and SPG11

A. Vanderver, C. Blackstone, T. Pierson, 2014, Annals of clinical and translational neurology.

Anti-HMGCR myopathy may resemble limb-girdle muscular dystrophy

Colleen E. Wahl, A. Mammen, C. Toro, 2018, Neurology: Neuroimmunology & Neuroinflammation.

Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes

J. Mullikin, C. Toro, W. Gahl, 2015, Journal of Medical Genetics.

A recurrent de novo missense mutation in UBTF causes developmental neuroregression

Harper B. Fauni, D. Adams, C. Toro, 2018, Human molecular genetics.

Circle of Willis anomalies in Turner syndrome: Absent A1 segment of the anterior cerebral artery.

Yonit A. Addissie, M. Luby, D. Page, 2019, Birth defects research.

Detecting false‐positive signals in exome sequencing

Murat Sincan, David Adams, Christopher E Mason, 2012, Human mutation.

The Spectrum of the Deficiency of Adenosine Deaminase 2: An Observational Analysis of a 60 Patient Cohort

D. Kastner, C. Toro, Michele E. Nehrebecky, 2022, Frontiers in Immunology.

Early‐Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST

R. Schüle, C. Toro, M. Sahin, 2022, Movement disorders : official journal of the Movement Disorder Society.

Clinical, pathological and functional characterization of riboﬂavin-responsive neuropathy

A. Singleton, D. Kullmann, F. Muntoni, 2017 .

Adults with lysosomal storage diseases in the undiagnosed diseases network

C. Toro, C. Tifft, F. Hisama, 2022, 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.

Biallelic variants in two complex I genes cause abnormal splicing defects in probands with mild Leigh syndrome.

Rena A. Godfrey, C. Toro, W. Gahl, 2020, Molecular genetics and metabolism.

Infantile-onset spinal muscular atrophy with respiratory distress-1 diagnosed in a 20-year-old man

T. Pierson, C. Toro, C. Tifft, 2011, Neuromuscular Disorders.

Mucopolysaccharidosis type IIIB (MPS IIIB) masquerading as a behavioural disorder

C. Toro, Jacqueline Brady, Dennis Landis, 2013, BMJ Case Reports.

Progressive Neuromuscular Syndromes Linked to Dynamin-2 Mutations

C. Toro, J. Hinshaw, N. Renwick, 2015 .

Autosomal dominant VCP hypomorph mutation impairs disaggregation of PHF-tau

M. Grossman, G. Aguirre, C. Toro, 2020, Science.

Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification.

Wei Zheng, Yan Huang, Tim Wood, 2019, American journal of human genetics.

The GM2 gangliosidoses: Unlocking the mysteries of pathogenesis and treatment

C. Toro, C. Tifft, Mosufa Zainab, 2021, Neuroscience Letters.

Neonatal detection of Aicardi Goutières Syndrome by increased C26:0 lysophosphatidylcholine and interferon signature on newborn screening blood spots.

A. Moser, A. Vanderver, C. Toro, 2017, Molecular genetics and metabolism.

York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1.

C. Toro, C. Boerkoel, W. Gahl, 2015, Molecular genetics and metabolism.

A new disease allele for the p.C30071R mutation in titin causing hereditary myopathy with early respiratory failure☆

C. Toro, P. Chinnery, N. Sambuughin, 2014, Neuromuscular Disorders.

A suite of automated sequence analyses reduces the number of candidate deleterious variants and reveals a difference between probands and unaffected siblings

D. Adams, C. Toro, C. Tifft, 2019, Genetics in Medicine.

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.

A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.

Michael F. Wangler, J. Rosenfeld, H. Bellen, 2017, American journal of human genetics.

GRIN2A mutation and early-onset epileptic encephalopathy: personalized therapy with memantine

Stephen F Traynelis, William A Gahl, David R Adams, 2014, Annals of clinical and translational neurology.

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.

A recurrent de novo missense mutation in UBTF causes developmental neuroregression

Harper B. Fauni, D. Adams, C. Toro, 2018, Human molecular genetics.

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.

VAR‐MD: A tool to analyze whole exome–genome variants in small human pedigrees with mendelian inheritance

Murat Sincan, William A Gahl, David Adams, 2012, Human mutation.

Exome sequencing identifies titin mutations causing hereditary myopathy with early respiratory failure (HMERF) in families of diverse ethnic origins

C. Toro, J. Bilbao, M. Dalakas, 2013, BMC Neurology.

Analysis of LMNB1 Duplications in Autosomal Dominant Leukodystrophy Provides Insights into Duplication Mechanisms and Allele-Specific Expression

A. Vanderver, J. Bouchard, C. Toro, 2013, Human mutation.

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.

The NIH Undiagnosed Diseases Program and Network: Applications to modern medicine.

William A Gahl, David R Adams, John J Mulvihill, 2016, Molecular genetics and metabolism.

Kelly A. Mills, Elizabeth L. Fieg, M. Hallett, 2020, Brain : a journal of neurology.

Clinical, pathological and functional characterization of riboflavin-responsive neuropathy

A. Singleton, D. Kullmann, F. Muntoni, 2017, Brain : a journal of neurology.

The implications of familial incidental findings from exome sequencing: The NIH Undiagnosed Diseases Program experience

Rena A. Godfrey, Colleen E. Wahl, D. Adams, 2014, Genetics in Medicine.

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.

A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome

Janice S. Lee, M. Leppert, F. Collins, 2017, Nature Communications.

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.

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.

Neurotransmitter Abnormalities and Response to Supplementation in Spg11 Nih Public Access Author Manuscript

Rena A. Godfrey, A. Vanderver, M. Patterson, 2022 .

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.

Early-onset stroke and vasculopathy associated with mutations in ADA2.

J. Mullikin, H. Kong, V. Pascual, 2014, The New England journal of medicine.

Chediak‐Higashi syndrome presenting as young‐onset levodopa‐responsive parkinsonism

C. Lungu, C. Toro, W. Introne, 2013, Movement disorders : official journal of the Movement Disorder Society.

Neurologic involvement in patients with atypical Chediak-Higashi disease

D. Adams, C. Toro, W. Gahl, 2017, Neurology.

Neurologic involvement in patients with atypical Chediak-Higashi disease

D. Adams, C. Toro, W. Gahl, 2016, Neurology.

The neuropsychological phenotype of Chediak-Higashi disease

C. Toro, E. Wiggs, G. Raglan, 2019, Orphanet Journal of Rare Diseases.

Peripheral nervous system manifestations of Chediak‐Higashi disease

C. Toro, T. Lehky, C. Groden, 2016, Muscle & nerve.

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.

A de novo hexokinase 1 (HK1) variant presenting as Boucher–Neuhäuser syndrome

Rena A. Godfrey, C. Toro, W. Gahl, 2022, American journal of medical genetics. Part A.

A novel frameshift mutation in SOX10 causes Waardenburg syndrome with peripheral demyelinating neuropathy, visual impairment and the absence of Hirschsprung disease

D. Adams, C. Toro, C. Tifft, 2020, American journal of medical genetics. Part A.

Glycomics in rare diseases: from diagnosis tomechanism

C. Toro, C. Boerkoel, C. Tifft, 2019, Translational research : the journal of laboratory and clinical medicine.

Biallelic mutations in mitochondrial tryptophanyl‐tRNA synthetase cause Levodopa‐responsive infantile‐onset Parkinsonism

Y. Huang, D. Adams, M. Sincan, 2018, Clinical genetics.

Compound heterozygosity for loss‐of‐function GARS variants results in a multisystem developmental syndrome that includes severe growth retardation

D. Adams, C. Toro, C. Tifft, 2017, Human mutation.

ATP1A3 Mutation in Adult Rapid-Onset Ataxia

Christopher T. Whitlow, Allison Brashear, Thomas C. Markello, 2016, PloS one.

Cystic cerebellar dysplasia and biallelic LAMA1 mutations: a lamininopathy associated with tics, obsessive compulsive traits and myopia due to cell adhesion and migration defects

J. Mullikin, C. Toro, W. Gahl, 2016, Journal of Medical Genetics.

Disruption of Golgi morphology and altered protein glycosylation in PLA2G6-associated neurodegeneration

C. Toro, C. Boerkoel, W. Gahl, 2015, Journal of Medical Genetics.

Cultural differences define diagnosis and genomic medicine practice: implications for undiagnosed diseases program in China

C. Toro, C. Boerkoel, C. Tifft, 2013, Frontiers of Medicine.

Chronic Dengue Virus Panencephalitis in a Patient with Progressive Dementia with Extrapyramidal Features

C. Blackstone, S. Galetta, M. Snuderl, 2019, Annals of neurology.

Comprehensive Immunophenotyping of Cerebrospinal Fluid Cells in Patients with Neuroimmunological Diseases

A. Vanderver, C. Toro, P. Williamson, 2014, The Journal of Immunology.

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.

Differentiating Moebius syndrome and other congenital facial weakness disorders with electrodiagnostic studies

F. Collins, E. Jabs, C. Toro, 2021, Muscle & nerve.

Joubert syndrome: neuroimaging findings in 110 patients in correlation with cognitive function and genetic cause

J. Mullikin, T. Huisman, N. Aygun, 2017, Journal of Medical Genetics.

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.

Mitochondrial impairment and rescue in riboflavin responsive neuropathy

A. Singleton, D. Kullmann, F. Muntoni, 2017, bioRxiv.

Treatment Strategies for Deficiency of Adenosine Deaminase 2.

D. Kastner, C. Toro, A. Soldatos, 2019, The New England journal of medicine.

A disease‐associated mutation in the adhesion GPCR BAI2 (ADGRB2) increases receptor signaling activity

C. Toro, W. Gahl, R. Purcell, 2017, Human mutation.

Whole-Exome Sequencing Identifies Homozygous AFG3L2 Mutations in a Spastic Ataxia-Neuropathy Syndrome Linked to Mitochondrial m-AAA Proteases

Anthony Sandler, Nancy F. Hansen, Jamie K. Teer, 2011, PLoS genetics.

Adult-onset autosomal dominant spastic paraplegia linked to a GTPase-effector domain mutation of dynamin 2

C. Toro, J. Hinshaw, N. Renwick, 2015, BMC Neurology.

Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28 through haploinsufficiency and proteostatic stress-driven OMA1 activation

T. Pierson, C. Toro, D. Mazza, 2019, Journal of Medical Genetics.

Correction: Whole-Exome Sequencing Identifies Homozygous AFG3L2 Mutations in a Spastic Ataxia-Neuropathy Syndrome Linked to Mitochondrial m-AAA Proteases

J. Mullikin, E. Rugarli, N. Hansen, 2013, PLoS Genetics.

MRI Characteristics of Globus Pallidus Infarcts in Isolated Methylmalonic Acidemia

C. Toro, E. Baker, A. Gropman, 2015, American Journal of Neuroradiology.

Conventional and Unconventional Therapeutic Strategies for Sialidosis Type I

C. Toro, C. Tifft, C. Gellera, 2020, Journal of clinical medicine.

Neuroimmunological Diseases Cerebrospinal Fluid Cells in Patients with Comprehensive Immunophenotyping of Bibiana

A. Vanderver, C. Toro, P. Williamson, 2014 .

A sialidosis type I cohort and a quantitative approach to multimodal ophthalmic imaging of the macular cherry-red spot

C. Toro, C. Tifft, W. Zein, 2020, British Journal of Ophthalmology.

Compound heterozygous KCTD7 variants in progressive myoclonus epilepsy

Diane B. Zastrow, M. Wheeler, S. Montgomery, 2021, Journal of neurogenetics.

Hereditary Spastic Paraplegia Type 43 (SPG43) is Caused by Mutation in C19orf12

Janel O. Johnson, K. Fischbeck, C. Blackstone, 2013, Human mutation.

Diagnosis of Chediak Higashi disease in a 67‐year old woman

C. Toro, W. Gahl, J. Stephen, 2020, American journal of medical genetics. Part A.

Idiopathic basal ganglia calcifications: an atypical presentation of PKAN.

C. Hess, Yvonne W Wu, C. Toro, 2013, Pediatric neurology.

Phenotypic evolution of UNC80 loss of function

V. Maduro, D. Adams, C. Toro, 2016, American journal of medical genetics. Part A.

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.

“Ears of the Lynx” MRI Sign Is Associated with SPG11 and SPG15 Hereditary Spastic Paraplegia

N. Bresolin, J. Masdeu, M. Riverol, 2019, American Journal of Neuroradiology.

Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability

C. Toro, C. Gustafsson, L. Wolfe, 2023, EMBO molecular medicine.

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.

Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum

S. Mehta, Y. Crow, D. Clifford, 2020, American journal of medical genetics. Part A.

Late diagnosis and atypical brain imaging of Aicardi–Goutières syndrome: are we failing to diagnose Aicardi–Goutières syndrome‐2?

Rena A. Godfrey, Colleen E. Wahl, C. Toro, 2017, Developmental medicine and child neurology.

Correction: Corrigendum: Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia

D. Grozeva, H. Bergman, D. Arkadir, 2017, Nature Genetics.

Neuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single center

J. Mullikin, S. Inati, C. Toro, 2017, American journal of medical genetics. Part A.

Gene expression changes in Tay–Sachs disease begin early in fetal brain development

R. Proia, C. Toro, C. Tifft, 2023, Journal of inherited metabolic disease.

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.

A novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C‐methyltransferase deficiency

Robert W. Taylor, D. Wallace, C. Toro, 2018, Human mutation.

Repeat expansions nested within tandem CNVs: A unique structural change in GLS exemplifies the diagnostic challenges of non-coding pathogenic variation.

Undiagnosed Diseases Network, S. Züchner, A. V. van Kuilenburg, 2022, Human molecular genetics.

Neurodegeneration as the presenting symptom in 2 adults with xeroderma pigmentosum complementation group F

Rena A. Godfrey, C. Toro, W. Gahl, 2018, Neurology: Genetics.

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.

A suite of automated sequence analyses reduces the number of candidate deleterious variants and reveals a difference between probands and unaffected siblings

D. Adams, C. Toro, C. Tifft, 2019, Genetics in Medicine.

Neurological manifestations of Erdheim–Chester Disease

Kevin J. O'Brien, C. Toro, W. Gahl, 2020, Annals of clinical and translational neurology.

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.

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.

TNF-Blockade for Primary Stroke Prevention in Adenosine Deaminase 2 Deficiency

D. Kastner, C. Toro, A. Soldatos, 2023, Neurology: Neuroimmunology & Neuroinflammation.

Progression of the EEG in Lafora-Body Disease

B. Malow, C. Toro, K. Reese, 1993 .

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.

Germline loss-of-function PAM variants are enriched in subjects with pituitary hypersecretion

R. Dale, R. Mains, F. Faucz, 2023, medRxiv.

An oligodendrocyte silencer element underlies the pathogenic impact of lamin B1 structural variants

C. Toro, P. Chinnery, J. Rankin, 2023, bioRxiv.

Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia

D. Grozeva, H. Bergman, D. Arkadir, 2016, Nature Genetics.

The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases

Rena A. Godfrey, Colleen E. Wahl, K. F. Fajardo, 2011, Genetics in Medicine.

VarSight: prioritizing clinically reported variants with binary classification algorithms

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

A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.

Michael F. Wangler, J. Rosenfeld, H. Bellen, 2017, American Journal of Human Genetics.

Spectrum of LYST mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature

D. Adams, C. Toro, M. Huizing, 2023, Journal of medical genetics.

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.

Neurotransmitter abnormalities and response to supplementation in SPG11.

Rena A. Godfrey, A. Vanderver, M. Patterson, 2012, Molecular genetics and metabolism.