Tufts New England Medical Center and Massachusetts General Hospital
|
Clinical Research Associate II
US
→
Tufts New England Medical Center and Massachusetts General Hospital
|
Clinical Research Associate II
US
→
Boston Children’s Hospital
|
Research Associate
US
→
Boston Children’s Hospital
|
Research Associate
US
→
Boston Children’s Hospital
|
Research Fellow
US
→
Harvard Medical School
|
Research Fellow
US
→
Boston Children’s Hospital
|
Research Fellow
US
→
Harvard Medical School
|
Research Fellow
US
→
Oxford Centre for Industrial and Applied Mathematics
|
Research Fellow
United Kingdom of Great Britain and Northern Ireland
→
Oxford Centre for Industrial and Applied Mathematics
|
Research Fellow
United Kingdom of Great Britain and Northern Ireland
→
General Electric
|
Engineer II
US
→
General Electric
|
Engineer II
US
→
Mecanica 2000 S.A. de C.V.
|
Design Engineer
Mexico
→
Mecanica 2000 S.A. de C.V.
|
Design Engineer
Mexico
→
Education
University of Oxford
United Kingdom of Great Britain and Northern Ireland
→
PhD
University of Oxford
United Kingdom of Great Britain and Northern Ireland
→
PhD
National Polytechnic Institute
Mexico
→
MS
National Polytechnic Institute
Mexico
→
MS
Technologic Institute of Puebla
Mexico
→
BS
Technologic Institute of Puebla
Mexico
→
BS
Publications
Persistent Inflammation, Maladaptive Remodeling, and Fibrosis in the Kidney Following Long COVID-like MHV-1 Mouse Model
Published by
Diseases
Summary
journal-article
Persistent Inflammation, Maladaptive Remodeling, and Fibrosis in the Kidney Following Long COVID-like MHV-1 Mouse Model
Published by
Diseases
Summary
journal-article
RELMβ sets the threshold for microbiome-dependent oral tolerance
Published by
Nature
Summary
journal-article
Unique Signatures of Highly Constrained Genes Across Publicly Available Genomic Databases
Published by
Genetics in Medicine
Summary
journal-article
Recessive variants in WSB2 encoding a substrate receptor of E3 ubiquitin ligase underlie a neurodevelopmental syndrome
Published by
European Journal of Human Genetics
Summary
journal-article
Persistent Inflammation, Maladaptive Remodeling, and Fibrosis in the Kidney Following Long COVID-like MHV-1 Mouse Model
Published by
Diseases
Summary
journal-article
Persistent Inflammation, Maladaptive Remodeling, and Fibrosis in the Kidney Following Long COVID-like MHV-1 Mouse Model
Published by
Diseases
Summary
journal-article
Recessive variants in WSB2 encoding a substrate receptor of E3 ubiquitin ligase underlie a neurodevelopmental syndrome
Published by
European Journal of Human Genetics
Summary
journal-article
Unique Signatures of Highly Constrained Genes Across Publicly Available Genomic Databases
Published by
Genetics in Medicine
Summary
journal-article
RELMβ sets the threshold for microbiome-dependent oral tolerance
Published by
Nature
Summary
journal-article
DOCK8 deficiency due to a deep intronic variant in two kindreds with hyper-IgE syndrome
Published by
Clinical Immunology
Summary
journal-article
Immunological biomarkers associated with survival in a cohort of Argentinian patients with common variable immunodeficiency
Published by
Journal of Allergy and Clinical Immunology: Global
Summary
journal-article
The solute carrier family 26 member 9 modifies rapidly progressing cystic fibrosis associated with homozygous F508del CFTR mutation
Published by
Clinica Chimica Acta
Summary
journal-article
Integrated multi‐omics approach reveals the role of striated muscle preferentially expressed protein kinase in skeletal muscle including its relationship with myospryn complex
Published by
Journal of Cachexia, Sarcopenia and Muscle
Summary
journal-article
High number of candidate gene variants are identified as disease‐causing in a period of 4 years
Published by
American Journal of Medical Genetics Part A
Summary
journal-article
DOCK8 deficiency due to a deep intronic variant in two kindreds with hyper-IgE syndrome
Published by
Clinical Immunology
Summary
journal-article
Immunological biomarkers associated with survival in a cohort of Argentinian patients with common variable immunodeficiency
Published by
Journal of Allergy and Clinical Immunology: Global
Summary
journal-article
High number of candidate gene variants are identified as disease‐causing in a period of 4 years
Published by
American Journal of Medical Genetics Part A
Summary
journal-article
Integrated multi‐omics approach reveals the role of striated muscle preferentially expressed protein kinase in skeletal muscle including its relationship with myospryn complex
Published by
Journal of Cachexia, Sarcopenia and Muscle
Summary
journal-article
The solute carrier family 26 member 9 modifies rapidly progressing cystic fibrosis associated with homozygous F508del CFTR mutation
Published by
Clinica Chimica Acta
Summary
journal-article
Reanalysis of clinical exome identifies the second variant in two individuals with recessive disorders
Published by
European Journal of Human Genetics
Summary
journal-article
Reanalysis of clinical exome identifies the second variant in two individuals with recessive disorders
Published by
European Journal of Human Genetics
Summary
journal-article
The Notch1/CD22 signaling axis disrupts Treg function in SARS-CoV-2–associated multisystem inflammatory syndrome in children
Published by
Journal of Clinical Investigation
Summary
journal-article
The Notch1/CD22 signaling axis disrupts Treg function in SARS-CoV-2–associated multisystem inflammatory syndrome in children
Published by
Journal of Clinical Investigation
Summary
journal-article
Severe allergic dysregulation due to a gain of function mutation in the transcription factor STAT6
Published by
Journal of Allergy and Clinical Immunology
Summary
journal-article
Severe allergic dysregulation due to a gain of function mutation in the transcription factor STAT6
Published by
Journal of Allergy and Clinical Immunology
Summary
journal-article
An intronic variant in TBX4 in a single family with variable and severe pulmonary manifestations
Published by
npj Genomic Medicine
Summary
journal-article
An intronic variant in TBX4 in a single family with variable and severe pulmonary manifestations
Published by
npj Genomic Medicine
Summary
journal-article
Atypical Localization of Eczema Discriminates DOCK8 or STAT3 Deficiencies from Atopic Dermatitis
Published by
Journal of Clinical Immunology
Summary
journal-article
Atypical Localization of Eczema Discriminates DOCK8 or STAT3 Deficiencies from Atopic Dermatitis
Published by
Journal of Clinical Immunology
Summary
journal-article
An intronic variant in TBX4 in a single family with variable and severe pulmonary manifestations
Published by
npj Genomic Medicine
Summary
journal-article
An intronic variant in TBX4 in a single family with variable and severe pulmonary manifestations
Published by
npj Genomic Medicine
Summary
journal-article
Severe allergic dysregulation due to a gain of function mutation in the transcription factor STAT6
Published by
Journal of Allergy and Clinical Immunology
Summary
journal-article
Severe allergic dysregulation due to a gain of function mutation in the transcription factor STAT6
Published by
Journal of Allergy and Clinical Immunology
Summary
journal-article
Reanalysis of clinical exome identifies the second variant in two individuals with recessive disorders
Published by
European Journal of Human Genetics
Summary
journal-article
Reanalysis of clinical exome identifies the second variant in two individuals with recessive disorders
Published by
European Journal of Human Genetics
Summary
journal-article
The Notch1/CD22 signaling axis disrupts Treg function in SARS-CoV-2–associated multisystem inflammatory syndrome in children
Published by
Journal of Clinical Investigation
Summary
journal-article
The Notch1/CD22 signaling axis disrupts Treg function in SARS-CoV-2–associated multisystem inflammatory syndrome in children
Published by
Journal of Clinical Investigation
Summary
journal-article
A Stk4-Foxp3-NF-κB p65 transcriptional complex promotes T<sub>reg</sub> cell activation and homeostasis
Published by
Science Immunology
Summary
journal-article
A Stk4-Foxp3–NF-κB p65 transcriptional complex promotes T reg cell activation and homeostasis
Published by
Science Immunology
Summary
journal-article
Primary Upper Extremity Lymphedema Caused by a CELSR1 Variant
Published by
Journal of Vascular Anomalies
Summary
journal-article
Congenital X‐linked neutropenia with myelodysplasia and somatic tetraploidy due to a germline mutation in
SEPT6
Published by
American Journal of Hematology
Summary
journal-article
Congenital X-linked neutropenia with myelodysplasia and somatic tetraploidy due to a germline mutation in SEPT6
Published by
American Journal of Hematology
Summary
journal-article
Notch1-CD22-Dependent Immune Dysregulation in the SARS-CoV2-Associated Multisystem Inflammatory Syndrome in Children
Published by
ResearchSquare
Summary
other
Evolution and long-term outcomes of combined immunodeficiency due to CARMIL2 deficiency
Published by
Allergy: European Journal of Allergy and Clinical Immunology
Summary
journal-article
Primary Upper Extremity Lymphedema Caused by a CELSR1 Variant
Published by
Journal of Vascular Anomalies
Summary
journal-article
Evolution and long-term outcomes of combined immunodeficiency due to CARMIL2 deficiency
Published by
Allergy: European Journal of Allergy and Clinical Immunology
Summary
journal-article
A Stk4-Foxp3–NF-κB p65 transcriptional complex promotes T reg cell activation and homeostasis
Published by
Science Immunology
Summary
journal-article
A Stk4-Foxp3-NF-κB p65 transcriptional complex promotes T<sub>reg</sub> cell activation and homeostasis
Published by
Science Immunology
Summary
journal-article
Congenital X‐linked neutropenia with myelodysplasia and somatic tetraploidy due to a germline mutation in
SEPT6
Published by
American Journal of Hematology
Summary
journal-article
Congenital X-linked neutropenia with myelodysplasia and somatic tetraploidy due to a germline mutation in SEPT6
Published by
American Journal of Hematology
Summary
journal-article
Notch1-CD22-Dependent Immune Dysregulation in the SARS-CoV2-Associated Multisystem Inflammatory Syndrome in Children
Published by
ResearchSquare
Summary
other
A data-driven architecture using natural language processing to improve phenotyping efficiency and accelerate genetic diagnoses of rare disorders
Published by
Human Genetics and Genomics Advances
Summary
journal-article
Genetic Study in a Cohort of Children With ROHHAD Syndrome
Published by
Journal of the Endocrine Society
Summary
journal-article
Notch4 signaling limits regulatory T-cell-mediated tissue repair and promotes severe lung inflammation in viral infections.
Published by
Immunity
Summary
journal-article
Notch4 signaling limits regulatory T-cell-mediated tissue repair and promotes severe lung inflammation in viral infections
Published by
Immunity
Summary
journal-article
Author Correction: A regulatory T cell Notch4-GDF15 axis licenses tissue inflammation in asthma.
Published by
Nature immunology
Summary
journal-article
Author Correction: A regulatory T cell Notch4–GDF15 axis licenses tissue inflammation in asthma (Nature Immunology, (2020), 21, 11, (1359-1370), 10.1038/s41590-020-0777-3)
Published by
Nature Immunology
Summary
journal-article
Author Correction: A regulatory T cell Notch4–GDF15 axis licenses tissue inflammation in asthma (Nature Immunology, (2020), 21, 11, (1359-1370), 10.1038/s41590-020-0777-3)
Published by
Nature Immunology
Summary
journal-article
Reanalysis of exome data identifies novel slc25a46 variants associated with leigh syndrome
Published by
Journal of Personalized Medicine
Summary
journal-article
Reanalysis of Exome Data Identifies Novel SLC25A46 Variants Associated with Leigh Syndrome.
Published by
Journal of personalized medicine
Summary
journal-article
Evolution and long-term outcomes of combined immunodeficiency due to CARMIL2 deficiency.
Published by
Allergy
Summary
journal-article
A homozygous stop-gain variant in ARHGAP42 is associated with childhood interstitial lung disease, systemic hypertension, and immunological findings.
Published by
PLoS genetics
Summary
journal-article
A homozygous stop-gain variant in ARHGAP42 is associated with childhood interstitial lung disease, systemic hypertension, and immunological findings
Published by
PLoS Genetics
Summary
journal-article
Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders.
Published by
American journal of human genetics
Summary
journal-article
Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders
Published by
American Journal of Human Genetics
Summary
journal-article
A data-driven architecture using natural language processing to improve phenotyping efficiency and accelerate genetic diagnoses of rare disorders.
Published by
HGG advances
Summary
journal-article
Reanalysis of exome data identifies novel slc25a46 variants associated with leigh syndrome
Published by
Journal of Personalized Medicine
Summary
journal-article
Evolution and long-term outcomes of combined immunodeficiency due to CARMIL2 deficiency.
Published by
Allergy
Summary
journal-article
Author Correction: A regulatory T cell Notch4–GDF15 axis licenses tissue inflammation in asthma (Nature Immunology, (2020), 21, 11, (1359-1370), 10.1038/s41590-020-0777-3)
Published by
Nature Immunology
Summary
journal-article
A homozygous stop-gain variant in ARHGAP42 is associated with childhood interstitial lung disease, systemic hypertension, and immunological findings.
Published by
PLoS genetics
Summary
journal-article
A homozygous stop-gain variant in ARHGAP42 is associated with childhood interstitial lung disease, systemic hypertension, and immunological findings
Published by
PLoS Genetics
Summary
journal-article
Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders.
Published by
American journal of human genetics
Summary
journal-article
Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders
Published by
American Journal of Human Genetics
Summary
journal-article
A data-driven architecture using natural language processing to improve phenotyping efficiency and accelerate genetic diagnoses of rare disorders.
Published by
HGG advances
Summary
journal-article
A data-driven architecture using natural language processing to improve phenotyping efficiency and accelerate genetic diagnoses of rare disorders
Published by
Human Genetics and Genomics Advances
Summary
journal-article
Genetic Study in a Cohort of Children With ROHHAD Syndrome
Published by
Journal of the Endocrine Society
Summary
journal-article
Notch4 signaling limits regulatory T-cell-mediated tissue repair and promotes severe lung inflammation in viral infections.
Published by
Immunity
Summary
journal-article
Notch4 signaling limits regulatory T-cell-mediated tissue repair and promotes severe lung inflammation in viral infections
Published by
Immunity
Summary
journal-article
Author Correction: A regulatory T cell Notch4-GDF15 axis licenses tissue inflammation in asthma.
Published by
Nature immunology
Summary
journal-article
Author Correction: A regulatory T cell Notch4–GDF15 axis licenses tissue inflammation in asthma (Nature Immunology, (2020), 21, 11, (1359-1370), 10.1038/s41590-020-0777-3)
Published by
Nature Immunology
Summary
journal-article
Reanalysis of Exome Data Identifies Novel SLC25A46 Variants Associated with Leigh Syndrome.
Published by
Journal of personalized medicine
Summary
journal-article
Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome
Published by
Journal of Experimental Medicine
Summary
journal-article
A regulatory T cell Notch4-GDF15 axis licenses tissue inflammation in asthma.
Published by
Nature immunology
Summary
journal-article
A regulatory T cell Notch4–GDF15 axis licenses tissue inflammation in asthma
Published by
Nature Immunology
Summary
journal-article
Homozygous deletions implicate non-coding epigenetic marks in Autism spectrum disorder.
Published by
Scientific reports
Summary
journal-article
Homozygous deletions implicate non-coding epigenetic marks in Autism spectrum disorder
Published by
Scientific Reports
Summary
journal-article
Correction: Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome.
Published by
The Journal of experimental medicine
Summary
journal-article
Erratum: Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome (J. Exp. Med. (2020) 217:6 Doi:10.1084/jem.20191804)
Published by
Journal of Experimental Medicine
Summary
journal-article
Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome.
Published by
The Journal of experimental medicine
Summary
journal-article
De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation.
Published by
American journal of human genetics
Summary
journal-article
De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation
Published by
American Journal of Human Genetics
Summary
journal-article
Combined immunodeficiency caused by a loss-of-function mutation in DNA polymerase delta 1
Published by
Journal of Allergy and Clinical Immunology
Summary
journal-article
De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation.
Published by
American journal of human genetics
Summary
journal-article
A regulatory T cell Notch4-GDF15 axis licenses tissue inflammation in asthma.
Published by
Nature immunology
Summary
journal-article
A regulatory T cell Notch4–GDF15 axis licenses tissue inflammation in asthma
Published by
Nature Immunology
Summary
journal-article
Homozygous deletions implicate non-coding epigenetic marks in Autism spectrum disorder.
Published by
Scientific reports
Summary
journal-article
Homozygous deletions implicate non-coding epigenetic marks in Autism spectrum disorder
Published by
Scientific Reports
Summary
journal-article
Correction: Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome.
Published by
The Journal of experimental medicine
Summary
journal-article
Erratum: Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome (J. Exp. Med. (2020) 217:6 Doi:10.1084/jem.20191804)
Published by
Journal of Experimental Medicine
Summary
journal-article
Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome.
Published by
The Journal of experimental medicine
Summary
journal-article
Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome
Published by
Journal of Experimental Medicine
Summary
journal-article
De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation
Published by
American Journal of Human Genetics
Summary
journal-article
Combined immunodeficiency caused by a loss-of-function mutation in DNA polymerase delta 1
Published by
Journal of Allergy and Clinical Immunology
Summary
journal-article
Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes.
Published by
European journal of human genetics : EJHG
Summary
journal-article
ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosis
Published by
Genetics in Medicine
Summary
journal-article
Mammalian Hbs1L deficiency causes congenital anomalies and developmental delay associated with Pelota depletion and 80S monosome accumulation
Published by
PLoS Genetics
Summary
journal-article
Mammalian Hbs1L deficiency causes congenital anomalies and developmental delay associated with Pelota depletion and 80S monosome accumulation.
Published by
PLoS genetics
Summary
journal-article
Combined immunodeficiency caused by a loss-of-function mutation in DNA polymerase delta 1.
Published by
The Journal of allergy and clinical immunology
Summary
journal-article
Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes
Published by
European Journal of Human Genetics
Summary
journal-article
Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes
Published by
European Journal of Human Genetics
Summary
journal-article
Mammalian Hbs1L deficiency causes congenital anomalies and developmental delay associated with Pelota depletion and 80S monosome accumulation.
Published by
PLoS genetics
Summary
journal-article
Mammalian Hbs1L deficiency causes congenital anomalies and developmental delay associated with Pelota depletion and 80S monosome accumulation
Published by
PLoS Genetics
Summary
journal-article
Combined immunodeficiency caused by a loss-of-function mutation in DNA polymerase delta 1.
Published by
The Journal of allergy and clinical immunology
Summary
journal-article
ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosis
Published by
Genetics in Medicine
Summary
journal-article
Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes.
Published by
European journal of human genetics : EJHG
Summary
journal-article
Congenital macrothrombocytopenia with focal myelofibrosis due to mutations in human G6b-B is rescued in humanized mice.
Published by
Blood
Summary
journal-article
Congenital macrothrombocytopenia with focal myelofibrosis due to mutations in human G6b-B is rescued in humanized mice
Published by
Blood
Summary
journal-article
Normalizing hepcidin predicts TMPRSS6 mutation status in patients with chronic iron deficiency
Published by
Blood
Summary
journal-article
Normalizing hepcidin predicts <i>TMPRSS6</i> mutation status in patients with chronic iron deficiency.
Published by
Blood
Summary
journal-article
ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosis.
Published by
Genetics in medicine : official journal of the American College of Medical Genetics
Summary
journal-article
Microphysiologic Human Tissue Constructs Reproduce Autologous Age-Specific BCG and HBV Primary Immunization <i>in vitro</i>.
Published by
Frontiers in immunology
Summary
journal-article
Microphysiologic human tissue constructs reproduce autologous age-specific BCG and HBV primary immunization in vitro
Published by
Frontiers in Immunology
Summary
journal-article
De novo variant in KIF26B is associated with pontocerebellar hypoplasia with infantile spinal muscular atrophy.
Published by
American journal of medical genetics. Part A
Summary
journal-article
De novo variant in KIF26B is associated with pontocerebellar hypoplasia with infantile spinal muscular atrophy
Published by
American Journal of Medical Genetics, Part A
Summary
journal-article
De novo variant in KIF26B is associated with pontocerebellar hypoplasia with infantile spinal muscular atrophy.
Published by
American journal of medical genetics. Part A
Summary
journal-article
Microphysiologic human tissue constructs reproduce autologous age-specific BCG and HBV primary immunization in vitro
Published by
Frontiers in Immunology
Summary
journal-article
Microphysiologic Human Tissue Constructs Reproduce Autologous Age-Specific BCG and HBV Primary Immunization <i>in vitro</i>.
Published by
Frontiers in immunology
Summary
journal-article
ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosis.
Published by
Genetics in medicine : official journal of the American College of Medical Genetics
Summary
journal-article
Normalizing hepcidin predicts TMPRSS6 mutation status in patients with chronic iron deficiency
Published by
Blood
Summary
journal-article
Normalizing hepcidin predicts <i>TMPRSS6</i> mutation status in patients with chronic iron deficiency.
Published by
Blood
Summary
journal-article
Congenital macrothrombocytopenia with focal myelofibrosis due to mutations in human G6b-B is rescued in humanized mice
Published by
Blood
Summary
journal-article
Congenital macrothrombocytopenia with focal myelofibrosis due to mutations in human G6b-B is rescued in humanized mice.
Published by
Blood
Summary
journal-article
De novo variant in KIF26B is associated with pontocerebellar hypoplasia with infantile spinal muscular atrophy
Published by
American Journal of Medical Genetics, Part A
Summary
journal-article
The epithelial sodium channel is a modifier of the long-term nonprogressive phenotype associated with F508del CFTR mutations
Published by
American Journal of Respiratory Cell and Molecular Biology
Summary
journal-article
The Epithelial Sodium Channel Is a Modifier of the Long-Term Nonprogressive Phenotype Associated with F508del CFTR Mutations.
Published by
American journal of respiratory cell and molecular biology
Summary
journal-article
Biallelic mutations in human DCC cause developmental split-brain syndrome.
Published by
Nature genetics
Summary
journal-article
Biallelic mutations in human DCC cause developmental split-brain syndrome
Published by
Nature Genetics
Summary
journal-article
Biallelic mutations in human DCC cause developmental split-brain syndrome
Published by
Nature Genetics
Summary
journal-article
Hyperammonemia as a presenting feature in two siblings with FBXL4 variants
Published by
JIMD Reports
Summary
book-chapter
Ringed sideroblasts in β-thalassemia
Published by
Pediatric Blood and Cancer
Summary
journal-article
Biallelic mutations in human DCC cause developmental split-brain syndrome.
Published by
Nature genetics
Summary
journal-article
The Epithelial Sodium Channel Is a Modifier of the Long-Term Nonprogressive Phenotype Associated with F508del CFTR Mutations.
Published by
American journal of respiratory cell and molecular biology
Summary
journal-article
The epithelial sodium channel is a modifier of the long-term nonprogressive phenotype associated with F508del CFTR mutations
Published by
American Journal of Respiratory Cell and Molecular Biology
Summary
journal-article
Biallelic mutations in human DCC cause developmental split-brain syndrome
Published by
Nature Genetics
Summary
journal-article
Hyperammonemia as a presenting feature in two siblings with FBXL4 variants
Published by
JIMD Reports
Summary
book-chapter
Ringed sideroblasts in β-thalassemia
Published by
Pediatric Blood and Cancer
Summary
journal-article
Biallelic mutations in human DCC cause developmental split-brain syndrome
Published by
Nature Genetics
Summary
journal-article
LARS2 variants associated with hydrops, lactic acidosis, sideroblastic anemia, and multisystem failure
Published by
JIMD Reports
Summary
book-chapter
Deficiency of base excision repair enzyme NEIL3 drives increased predisposition to autoimmunity
Published by
Journal of Clinical Investigation
Summary
journal-article
A recurring mutation in the respiratory complex 1 protein NDUFB11 is responsible for a novel form of X-linked sideroblastic anemia.
Published by
Blood
Summary
journal-article
A recurring mutation in the respiratory complex 1 protein NDUFB11 is responsible for a novel form of X-linked sideroblastic anemia
Published by
Blood
Summary
journal-article
Mutations in the substrate binding glycine-rich loop of the mitochondrial processing peptidase-α protein (PMPCA) cause a severe mitochondrial disease.
Published by
Cold Spring Harbor molecular case studies
Summary
journal-article
Ringed sideroblasts in β-thalassemia.
Published by
Pediatric blood & cancer
Summary
journal-article
Hyperammonemia as a Presenting Feature in Two Siblings with FBXL4 Variants.
Published by
JIMD reports
Summary
journal-article
A recurring mutation in the respiratory complex 1 protein NDUFB11 is responsible for a novel form of X-linked sideroblastic anemia.
Published by
Blood
Summary
journal-article
Mutations in the substrate binding glycine-rich loop of the mitochondrial processing peptidase-α protein (PMPCA) cause a severe mitochondrial disease.
Published by
Cold Spring Harbor molecular case studies
Summary
journal-article
Ringed sideroblasts in β-thalassemia.
Published by
Pediatric blood & cancer
Summary
journal-article
A recurring mutation in the respiratory complex 1 protein NDUFB11 is responsible for a novel form of X-linked sideroblastic anemia
Published by
Blood
Summary
journal-article
Deficiency of base excision repair enzyme NEIL3 drives increased predisposition to autoimmunity
Published by
Journal of Clinical Investigation
Summary
journal-article
Hyperammonemia as a Presenting Feature in Two Siblings with FBXL4 Variants.
Published by
JIMD reports
Summary
journal-article
LARS2 variants associated with hydrops, lactic acidosis, sideroblastic anemia, and multisystem failure
Published by
JIMD Reports
Summary
book-chapter
Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination.
Published by
American journal of human genetics
Summary
journal-article
Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9
Published by
Blood
Summary
journal-article
Loss of PCLO function underlies pontocerebellar hypoplasia type III.
Published by
Neurology
Summary
journal-article
Loss of PCLO function underlies pontocerebellar hypoplasia type III
Published by
Neurology
Summary
journal-article
Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9.
Published by
Blood
Summary
journal-article
LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure.
Published by
JIMD reports
Summary
journal-article
Mutations in PYCR2, encoding pyrroline-5-carboxylate reductase 2, cause microcephaly and hypomyelination
Published by
American Journal of Human Genetics
Summary
journal-article
Loss of PCLO function underlies pontocerebellar hypoplasia type III.
Published by
Neurology
Summary
journal-article
LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure.
Published by
JIMD reports
Summary
journal-article
Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9.
Published by
Blood
Summary
journal-article
Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9
Published by
Blood
Summary
journal-article
Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination.
Published by
American journal of human genetics
Summary
journal-article
Mutations in PYCR2, encoding pyrroline-5-carboxylate reductase 2, cause microcephaly and hypomyelination
Published by
American Journal of Human Genetics
Summary
journal-article
Loss of PCLO function underlies pontocerebellar hypoplasia type III
Published by
Neurology
Summary
journal-article
Expanding the phenotype associated with the NEFL mutation: neuromuscular disease in a family with overlapping myopathic and neurogenic findings.
Published by
JAMA neurology
Summary
journal-article
Expanding the phenotype associated with the NEFL mutation neuromuscular disease in a family with overlapping myopathic and neurogenic findings
Published by
JAMA Neurology
Summary
journal-article
Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD).
Published by
Blood
Summary
journal-article
Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD)
Published by
Blood
Summary
journal-article
X-linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA-binding site mutations
Published by
American Journal of Hematology
Summary
journal-article
Expanding the phenotype associated with the NEFL mutation: neuromuscular disease in a family with overlapping myopathic and neurogenic findings.
Published by
JAMA neurology
Summary
journal-article
Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD).
Published by
Blood
Summary
journal-article
Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD)
Published by
Blood
Summary
journal-article
X-linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA-binding site mutations
Published by
American Journal of Hematology
Summary
journal-article
Expanding the phenotype associated with the NEFL mutation neuromuscular disease in a family with overlapping myopathic and neurogenic findings
Published by
JAMA Neurology
Summary
journal-article
GATA2 Mutations In Pediatric Myelodysplastic Syndromes and Bone Marrow Failure
Published by
Blood
Summary
journal-article
Using whole-exome sequencing to identify inherited causes of autism.
Published by
Neuron
Summary
journal-article
A novel rat model of hereditary hemochromatosis due to a mutation in transferrin receptor 2.
Published by
Comparative medicine
Summary
journal-article
A novel rat model of hereditary hemochromatosis due to a mutation in transferrin receptor 2
Published by
Comparative Medicine
Summary
journal-article
Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy
Published by
Neurology
Summary
journal-article
X-linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA-binding site mutations.
Published by
American journal of hematology
Summary
journal-article
Using Whole-Exome Sequencing to Identify Inherited Causes of Autism
Published by
Neuron
Summary
journal-article
Rare complete loss of function provides insight into a pleiotropic genome-wide association study locus.
Published by
Blood
Summary
journal-article
Rare complete loss of function provides insight into a pleiotropic genome-wide association study locus
Published by
Blood
Summary
journal-article
P.9.5 A novel NEFL gene mutation is identified in a family diagnosed with Nemaline Myopathy
Published by
Neuromuscular Disorders
Summary
journal-article
Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy.
Published by
Neurology
Summary
journal-article
Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy
Published by
Neurology
Summary
journal-article
A novel rat model of hereditary hemochromatosis due to a mutation in transferrin receptor 2.
Published by
Comparative medicine
Summary
journal-article
Using whole-exome sequencing to identify inherited causes of autism.
Published by
Neuron
Summary
journal-article
Using Whole-Exome Sequencing to Identify Inherited Causes of Autism
Published by
Neuron
Summary
journal-article
A novel rat model of hereditary hemochromatosis due to a mutation in transferrin receptor 2
Published by
Comparative Medicine
Summary
journal-article
P.9.5 A novel NEFL gene mutation is identified in a family diagnosed with Nemaline Myopathy
Published by
Neuromuscular Disorders
Summary
journal-article
GATA2 Mutations In Pediatric Myelodysplastic Syndromes and Bone Marrow Failure
Published by
Blood
Summary
journal-article
Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy.
Published by
Neurology
Summary
journal-article
Rare complete loss of function provides insight into a pleiotropic genome-wide association study locus.
Published by
Blood
Summary
journal-article
Rare complete loss of function provides insight into a pleiotropic genome-wide association study locus
Published by
Blood
Summary
journal-article
X-linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA-binding site mutations.
Published by
American journal of hematology
Summary
journal-article
Demand for mini cars and large cars; decay effects, and gasoline demand in Japan
Published by
Energy Policy
Summary
journal-article
Demand for mini cars and large cars; decay effects, and gasoline demand in Japan
Published by
Energy Policy
Summary
journal-article
Demand for mini cars and large cars; decay effects, and gasoline demand in Japan
Published by
Energy Policy
Summary
journal-article
Demand for mini cars and large cars; decay effects, and gasoline demand in Japan
Published by
Energy Policy
Summary
journal-article
Pricing exotic options using MSL-MC
Published by
Quantitative Finance
Summary
journal-article
Pricing exotic options using MSL-MC
Published by
Quantitative Finance
Summary
journal-article
θ Scheme (Orthogonal Milstein Scheme), a Better Numerical Approximation for Multi-dimensional SDEs
Published by
Global J Comp Sci Tech
Summary
journal-article
θ Scheme (Orthogonal Milstein Scheme), a Better Numerical Approximation for Multi-dimensional SDEs
Published by
Global J Comp Sci Tech
Summary
journal-article
Pricing Exotic Options Using Strong Convergence Properties. Progress in Industrial Mathematics at ECMI 2006
Published by
Springer Berlin Heidelberg
Summary
research-technique
Mini symposium “Finance” (Oxford). Progress in Industrial Mathematics at ECMI 2006:
Published by
Springer Berlin Heidelberg
Summary
research-technique
Pricing Exotic Options Using Strong Convergence Properties. Progress in Industrial Mathematics at ECMI 2006
Published by
Springer Berlin Heidelberg
Summary
research-technique
Mini symposium “Finance” (Oxford). Progress in Industrial Mathematics at ECMI 2006:
Published by
Springer Berlin Heidelberg
Summary
research-technique
Measure Order of Convergence without an Exact Solution, Euler vs. Milstein Scheme
Published by
Int J Pure Appl Math
Summary
journal-article
Planning Drinking Water for Airplanes. Study Group Mathematics & Industry 2005, Vrije University Amsterdam, 2005.
Summary
conference-paper
Measure Order of Convergence without an Exact Solution, Euler vs. Milstein Scheme
Published by
Int J Pure Appl Math
Summary
journal-article
Planning Drinking Water for Airplanes. Study Group Mathematics & Industry 2005, Vrije University Amsterdam, 2005.
Summary
conference-paper
Frequency Filtering in Telecommunications. 17th European Modelling Week, University of Bristol, UK, 2004.
Summary
conference-paper
Frequency Filtering in Telecommunications. 17th European Modelling Week, University of Bristol, UK, 2004.