Klaus E. Schmitz-Abe

, , ,.

Work

University of Miami

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Associate Professor

, , US

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Summary

University of Miami

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Associate Professor

, , US

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Summary

Boston Children’s Hospital

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AP Visiting Professor

, , US

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Summary

Boston Children’s Hospital

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AP Visiting Professor

, , US

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Summary

Harvard Medical School

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Assistant Professor

, , US

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Summary

Harvard Medical School

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Assistant Professor

, , US

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Summary

Boston Children’s Hospital

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Research Associate

, , US

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Summary

Boston Children’s Hospital

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Research Associate

, , US

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Summary

Boston Children’s Hospital

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Research Associate

, , US

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Summary

Boston Children’s Hospital

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Research Associate

, , US

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Summary

Harvard Medical School

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Instructor

, , US

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Summary

Harvard Medical School

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Instructor

, , US

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Summary

Tufts New England Medical Center and Massachusetts General Hospital

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Clinical Research Associate II

, , US

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Summary

Tufts New England Medical Center and Massachusetts General Hospital

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Clinical Research Associate II

, , US

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Summary

Boston Children’s Hospital

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Research Associate

, , US

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Summary

Boston Children’s Hospital

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Research Associate

, , US

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Summary

Boston Children’s Hospital

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Research Fellow

, , US

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Summary

Harvard Medical School

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Research Fellow

, , US

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Summary

Boston Children’s Hospital

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Research Fellow

, , US

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Summary

Harvard Medical School

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Research Fellow

, , US

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Summary

Oxford Centre for Industrial and Applied Mathematics

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Research Fellow

, , United Kingdom of Great Britain and Northern Ireland

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Summary

Oxford Centre for Industrial and Applied Mathematics

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Research Fellow

, , United Kingdom of Great Britain and Northern Ireland

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Summary

General Electric

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Engineer II

, , US

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Summary

General Electric

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Engineer II

, , US

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Summary

Mecanica 2000 S.A. de C.V.

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Design Engineer

, , Mexico

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Summary

Mecanica 2000 S.A. de C.V.

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Design Engineer

, , Mexico

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Summary

Education

University of Oxford

, , United Kingdom of Great Britain and Northern Ireland
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PhD

University of Oxford

, , United Kingdom of Great Britain and Northern Ireland
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PhD

National Polytechnic Institute

, , Mexico
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MS

National Polytechnic Institute

, , Mexico
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MS

Technologic Institute of Puebla

, , Mexico
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BS

Technologic Institute of Puebla

, , Mexico
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BS

Publications

Persistent Inflammation, Maladaptive Remodeling, and Fibrosis in the Kidney Following Long COVID-like MHV-1 Mouse Model

Diseases

journal-article

Persistent Inflammation, Maladaptive Remodeling, and Fibrosis in the Kidney Following Long COVID-like MHV-1 Mouse Model

Diseases

journal-article

RELMβ sets the threshold for microbiome-dependent oral tolerance

Nature

journal-article

Unique Signatures of Highly Constrained Genes Across Publicly Available Genomic Databases

Genetics in Medicine

journal-article

Recessive variants in WSB2 encoding a substrate receptor of E3 ubiquitin ligase underlie a neurodevelopmental syndrome

European Journal of Human Genetics

journal-article

Persistent Inflammation, Maladaptive Remodeling, and Fibrosis in the Kidney Following Long COVID-like MHV-1 Mouse Model

Diseases

journal-article

Persistent Inflammation, Maladaptive Remodeling, and Fibrosis in the Kidney Following Long COVID-like MHV-1 Mouse Model

Diseases

journal-article

Recessive variants in WSB2 encoding a substrate receptor of E3 ubiquitin ligase underlie a neurodevelopmental syndrome

European Journal of Human Genetics

journal-article

Unique Signatures of Highly Constrained Genes Across Publicly Available Genomic Databases

Genetics in Medicine

journal-article

RELMβ sets the threshold for microbiome-dependent oral tolerance

Nature

journal-article

DOCK8 deficiency due to a deep intronic variant in two kindreds with hyper-IgE syndrome

Clinical Immunology

journal-article

Immunological biomarkers associated with survival in a cohort of Argentinian patients with common variable immunodeficiency

Journal of Allergy and Clinical Immunology: Global

journal-article

The solute carrier family 26 member 9 modifies rapidly progressing cystic fibrosis associated with homozygous F508del CFTR mutation

Clinica Chimica Acta

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

Journal of Cachexia, Sarcopenia and Muscle

journal-article

High number of candidate gene variants are identified as disease‐causing in a period of 4 years

American Journal of Medical Genetics Part A

journal-article

DOCK8 deficiency due to a deep intronic variant in two kindreds with hyper-IgE syndrome

Clinical Immunology

journal-article

Immunological biomarkers associated with survival in a cohort of Argentinian patients with common variable immunodeficiency

Journal of Allergy and Clinical Immunology: Global

journal-article

High number of candidate gene variants are identified as disease‐causing in a period of 4 years

American Journal of Medical Genetics Part A

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

Journal of Cachexia, Sarcopenia and Muscle

journal-article

The solute carrier family 26 member 9 modifies rapidly progressing cystic fibrosis associated with homozygous F508del CFTR mutation

Clinica Chimica Acta

journal-article

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

European Journal of Human Genetics

journal-article

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

European Journal of Human Genetics

journal-article

The Notch1/CD22 signaling axis disrupts Treg function in SARS-CoV-2–associated multisystem inflammatory syndrome in children

Journal of Clinical Investigation

journal-article

The Notch1/CD22 signaling axis disrupts Treg function in SARS-CoV-2–associated multisystem inflammatory syndrome in children

Journal of Clinical Investigation

journal-article

Severe allergic dysregulation due to a gain of function mutation in the transcription factor STAT6

Journal of Allergy and Clinical Immunology

journal-article

Severe allergic dysregulation due to a gain of function mutation in the transcription factor STAT6

Journal of Allergy and Clinical Immunology

journal-article

An intronic variant in TBX4 in a single family with variable and severe pulmonary manifestations

npj Genomic Medicine

journal-article

An intronic variant in TBX4 in a single family with variable and severe pulmonary manifestations

npj Genomic Medicine

journal-article

Atypical Localization of Eczema Discriminates DOCK8 or STAT3 Deficiencies from Atopic Dermatitis

Journal of Clinical Immunology

journal-article

Atypical Localization of Eczema Discriminates DOCK8 or STAT3 Deficiencies from Atopic Dermatitis

Journal of Clinical Immunology

journal-article

An intronic variant in TBX4 in a single family with variable and severe pulmonary manifestations

npj Genomic Medicine

journal-article

An intronic variant in TBX4 in a single family with variable and severe pulmonary manifestations

npj Genomic Medicine

journal-article

Severe allergic dysregulation due to a gain of function mutation in the transcription factor STAT6

Journal of Allergy and Clinical Immunology

journal-article

Severe allergic dysregulation due to a gain of function mutation in the transcription factor STAT6

Journal of Allergy and Clinical Immunology

journal-article

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

European Journal of Human Genetics

journal-article

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

European Journal of Human Genetics

journal-article

The Notch1/CD22 signaling axis disrupts Treg function in SARS-CoV-2–associated multisystem inflammatory syndrome in children

Journal of Clinical Investigation

journal-article

The Notch1/CD22 signaling axis disrupts Treg function in SARS-CoV-2–associated multisystem inflammatory syndrome in children

Journal of Clinical Investigation

journal-article

A Stk4-Foxp3-NF-κB p65 transcriptional complex promotes Treg cell activation and homeostasis

Science Immunology

journal-article

A Stk4-Foxp3–NF-κB p65 transcriptional complex promotes T reg cell activation and homeostasis

Science Immunology

journal-article

Primary Upper Extremity Lymphedema Caused by a CELSR1 Variant

Journal of Vascular Anomalies

journal-article

Congenital X‐linked neutropenia with myelodysplasia and somatic tetraploidy due to a germline mutation in SEPT6

American Journal of Hematology

journal-article

Congenital X-linked neutropenia with myelodysplasia and somatic tetraploidy due to a germline mutation in SEPT6

American Journal of Hematology

journal-article

Notch1-CD22-Dependent Immune Dysregulation in the SARS-CoV2-Associated Multisystem Inflammatory Syndrome in Children

ResearchSquare

other

Evolution and long-term outcomes of combined immunodeficiency due to CARMIL2 deficiency

Allergy: European Journal of Allergy and Clinical Immunology

journal-article

Primary Upper Extremity Lymphedema Caused by a CELSR1 Variant

Journal of Vascular Anomalies

journal-article

Evolution and long-term outcomes of combined immunodeficiency due to CARMIL2 deficiency

Allergy: European Journal of Allergy and Clinical Immunology

journal-article

A Stk4-Foxp3–NF-κB p65 transcriptional complex promotes T reg cell activation and homeostasis

Science Immunology

journal-article

A Stk4-Foxp3-NF-κB p65 transcriptional complex promotes Treg cell activation and homeostasis

Science Immunology

journal-article

Congenital X‐linked neutropenia with myelodysplasia and somatic tetraploidy due to a germline mutation in SEPT6

American Journal of Hematology

journal-article

Congenital X-linked neutropenia with myelodysplasia and somatic tetraploidy due to a germline mutation in SEPT6

American Journal of Hematology

journal-article

Notch1-CD22-Dependent Immune Dysregulation in the SARS-CoV2-Associated Multisystem Inflammatory Syndrome in Children

ResearchSquare

other

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

Human Genetics and Genomics Advances

journal-article

Genetic Study in a Cohort of Children With ROHHAD Syndrome

Journal of the Endocrine Society

journal-article

Notch4 signaling limits regulatory T-cell-mediated tissue repair and promotes severe lung inflammation in viral infections.

Immunity

journal-article

Notch4 signaling limits regulatory T-cell-mediated tissue repair and promotes severe lung inflammation in viral infections

Immunity

journal-article

Author Correction: A regulatory T cell Notch4-GDF15 axis licenses tissue inflammation in asthma.

Nature immunology

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)

Nature Immunology

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)

Nature Immunology

journal-article

Reanalysis of exome data identifies novel slc25a46 variants associated with leigh syndrome

Journal of Personalized Medicine

journal-article

Reanalysis of Exome Data Identifies Novel SLC25A46 Variants Associated with Leigh Syndrome.

Journal of personalized medicine

journal-article

Evolution and long-term outcomes of combined immunodeficiency due to CARMIL2 deficiency.

Allergy

journal-article

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

PLoS genetics

journal-article

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

PLoS Genetics

journal-article

Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders.

American journal of human genetics

journal-article

Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders

American Journal of Human Genetics

journal-article

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

HGG advances

journal-article

Reanalysis of exome data identifies novel slc25a46 variants associated with leigh syndrome

Journal of Personalized Medicine

journal-article

Evolution and long-term outcomes of combined immunodeficiency due to CARMIL2 deficiency.

Allergy

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)

Nature Immunology

journal-article

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

PLoS genetics

journal-article

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

PLoS Genetics

journal-article

Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders.

American journal of human genetics

journal-article

Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders

American Journal of Human Genetics

journal-article

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

HGG advances

journal-article

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

Human Genetics and Genomics Advances

journal-article

Genetic Study in a Cohort of Children With ROHHAD Syndrome

Journal of the Endocrine Society

journal-article

Notch4 signaling limits regulatory T-cell-mediated tissue repair and promotes severe lung inflammation in viral infections.

Immunity

journal-article

Notch4 signaling limits regulatory T-cell-mediated tissue repair and promotes severe lung inflammation in viral infections

Immunity

journal-article

Author Correction: A regulatory T cell Notch4-GDF15 axis licenses tissue inflammation in asthma.

Nature immunology

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)

Nature Immunology

journal-article

Reanalysis of Exome Data Identifies Novel SLC25A46 Variants Associated with Leigh Syndrome.

Journal of personalized medicine

journal-article

Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome

Journal of Experimental Medicine

journal-article

A regulatory T cell Notch4-GDF15 axis licenses tissue inflammation in asthma.

Nature immunology

journal-article

A regulatory T cell Notch4–GDF15 axis licenses tissue inflammation in asthma

Nature Immunology

journal-article

Homozygous deletions implicate non-coding epigenetic marks in Autism spectrum disorder.

Scientific reports

journal-article

Homozygous deletions implicate non-coding epigenetic marks in Autism spectrum disorder

Scientific Reports

journal-article

Correction: Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome.

The Journal of experimental medicine

journal-article

Erratum: Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome (J. Exp. Med. (2020) 217:6 Doi:10.1084/jem.20191804)

Journal of Experimental Medicine

journal-article

Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome.

The Journal of experimental medicine

journal-article

De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation.

American journal of human genetics

journal-article

De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation

American Journal of Human Genetics

journal-article

Combined immunodeficiency caused by a loss-of-function mutation in DNA polymerase delta 1

Journal of Allergy and Clinical Immunology

journal-article

De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation.

American journal of human genetics

journal-article

A regulatory T cell Notch4-GDF15 axis licenses tissue inflammation in asthma.

Nature immunology

journal-article

A regulatory T cell Notch4–GDF15 axis licenses tissue inflammation in asthma

Nature Immunology

journal-article

Homozygous deletions implicate non-coding epigenetic marks in Autism spectrum disorder.

Scientific reports

journal-article

Homozygous deletions implicate non-coding epigenetic marks in Autism spectrum disorder

Scientific Reports

journal-article

Correction: Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome.

The Journal of experimental medicine

journal-article

Erratum: Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome (J. Exp. Med. (2020) 217:6 Doi:10.1084/jem.20191804)

Journal of Experimental Medicine

journal-article

Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome.

The Journal of experimental medicine

journal-article

Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome

Journal of Experimental Medicine

journal-article

De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation

American Journal of Human Genetics

journal-article

Combined immunodeficiency caused by a loss-of-function mutation in DNA polymerase delta 1

Journal of Allergy and Clinical Immunology

journal-article

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

European journal of human genetics : EJHG

journal-article

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

Genetics in Medicine

journal-article

Mammalian Hbs1L deficiency causes congenital anomalies and developmental delay associated with Pelota depletion and 80S monosome accumulation

PLoS Genetics

journal-article

Mammalian Hbs1L deficiency causes congenital anomalies and developmental delay associated with Pelota depletion and 80S monosome accumulation.

PLoS genetics

journal-article

Combined immunodeficiency caused by a loss-of-function mutation in DNA polymerase delta 1.

The Journal of allergy and clinical immunology

journal-article

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

European Journal of Human Genetics

journal-article

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

European Journal of Human Genetics

journal-article

Mammalian Hbs1L deficiency causes congenital anomalies and developmental delay associated with Pelota depletion and 80S monosome accumulation.

PLoS genetics

journal-article

Mammalian Hbs1L deficiency causes congenital anomalies and developmental delay associated with Pelota depletion and 80S monosome accumulation

PLoS Genetics

journal-article

Combined immunodeficiency caused by a loss-of-function mutation in DNA polymerase delta 1.

The Journal of allergy and clinical immunology

journal-article

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

Genetics in Medicine

journal-article

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

European journal of human genetics : EJHG

journal-article

Congenital macrothrombocytopenia with focal myelofibrosis due to mutations in human G6b-B is rescued in humanized mice.

Blood

journal-article

Congenital macrothrombocytopenia with focal myelofibrosis due to mutations in human G6b-B is rescued in humanized mice

Blood

journal-article

Normalizing hepcidin predicts TMPRSS6 mutation status in patients with chronic iron deficiency

Blood

journal-article

Normalizing hepcidin predicts TMPRSS6 mutation status in patients with chronic iron deficiency.

Blood

journal-article

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

Genetics in medicine : official journal of the American College of Medical Genetics

journal-article

Microphysiologic Human Tissue Constructs Reproduce Autologous Age-Specific BCG and HBV Primary Immunization in vitro.

Frontiers in immunology

journal-article

Microphysiologic human tissue constructs reproduce autologous age-specific BCG and HBV primary immunization in vitro

Frontiers in Immunology

journal-article

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

American journal of medical genetics. Part A

journal-article

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

American Journal of Medical Genetics, Part A

journal-article

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

American journal of medical genetics. Part A

journal-article

Microphysiologic human tissue constructs reproduce autologous age-specific BCG and HBV primary immunization in vitro

Frontiers in Immunology

journal-article

Microphysiologic Human Tissue Constructs Reproduce Autologous Age-Specific BCG and HBV Primary Immunization in vitro.

Frontiers in immunology

journal-article

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

Genetics in medicine : official journal of the American College of Medical Genetics

journal-article

Normalizing hepcidin predicts TMPRSS6 mutation status in patients with chronic iron deficiency

Blood

journal-article

Normalizing hepcidin predicts TMPRSS6 mutation status in patients with chronic iron deficiency.

Blood

journal-article

Congenital macrothrombocytopenia with focal myelofibrosis due to mutations in human G6b-B is rescued in humanized mice

Blood

journal-article

Congenital macrothrombocytopenia with focal myelofibrosis due to mutations in human G6b-B is rescued in humanized mice.

Blood

journal-article

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

American Journal of Medical Genetics, Part A

journal-article

The epithelial sodium channel is a modifier of the long-term nonprogressive phenotype associated with F508del CFTR mutations

American Journal of Respiratory Cell and Molecular Biology

journal-article

The Epithelial Sodium Channel Is a Modifier of the Long-Term Nonprogressive Phenotype Associated with F508del CFTR Mutations.

American journal of respiratory cell and molecular biology

journal-article

Biallelic mutations in human DCC cause developmental split-brain syndrome.

Nature genetics

journal-article

Biallelic mutations in human DCC cause developmental split-brain syndrome

Nature Genetics

journal-article

Biallelic mutations in human DCC cause developmental split-brain syndrome

Nature Genetics

journal-article

Hyperammonemia as a presenting feature in two siblings with FBXL4 variants

JIMD Reports

book-chapter

Ringed sideroblasts in β-thalassemia

Pediatric Blood and Cancer

journal-article

Biallelic mutations in human DCC cause developmental split-brain syndrome.

Nature genetics

journal-article

The Epithelial Sodium Channel Is a Modifier of the Long-Term Nonprogressive Phenotype Associated with F508del CFTR Mutations.

American journal of respiratory cell and molecular biology

journal-article

The epithelial sodium channel is a modifier of the long-term nonprogressive phenotype associated with F508del CFTR mutations

American Journal of Respiratory Cell and Molecular Biology

journal-article

Biallelic mutations in human DCC cause developmental split-brain syndrome

Nature Genetics

journal-article

Hyperammonemia as a presenting feature in two siblings with FBXL4 variants

JIMD Reports

book-chapter

Ringed sideroblasts in β-thalassemia

Pediatric Blood and Cancer

journal-article

Biallelic mutations in human DCC cause developmental split-brain syndrome

Nature Genetics

journal-article

LARS2 variants associated with hydrops, lactic acidosis, sideroblastic anemia, and multisystem failure

JIMD Reports

book-chapter

Deficiency of base excision repair enzyme NEIL3 drives increased predisposition to autoimmunity

Journal of Clinical Investigation

journal-article

A recurring mutation in the respiratory complex 1 protein NDUFB11 is responsible for a novel form of X-linked sideroblastic anemia.

Blood

journal-article

A recurring mutation in the respiratory complex 1 protein NDUFB11 is responsible for a novel form of X-linked sideroblastic anemia

Blood

journal-article

Mutations in the substrate binding glycine-rich loop of the mitochondrial processing peptidase-α protein (PMPCA) cause a severe mitochondrial disease.

Cold Spring Harbor molecular case studies

journal-article

Ringed sideroblasts in β-thalassemia.

Pediatric blood & cancer

journal-article

Hyperammonemia as a Presenting Feature in Two Siblings with FBXL4 Variants.

JIMD reports

journal-article

A recurring mutation in the respiratory complex 1 protein NDUFB11 is responsible for a novel form of X-linked sideroblastic anemia.

Blood

journal-article

Mutations in the substrate binding glycine-rich loop of the mitochondrial processing peptidase-α protein (PMPCA) cause a severe mitochondrial disease.

Cold Spring Harbor molecular case studies

journal-article

Ringed sideroblasts in β-thalassemia.

Pediatric blood & cancer

journal-article

A recurring mutation in the respiratory complex 1 protein NDUFB11 is responsible for a novel form of X-linked sideroblastic anemia

Blood

journal-article

Deficiency of base excision repair enzyme NEIL3 drives increased predisposition to autoimmunity

Journal of Clinical Investigation

journal-article

Hyperammonemia as a Presenting Feature in Two Siblings with FBXL4 Variants.

JIMD reports

journal-article

LARS2 variants associated with hydrops, lactic acidosis, sideroblastic anemia, and multisystem failure

JIMD Reports

book-chapter

Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination.

American journal of human genetics

journal-article

Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9

Blood

journal-article

Loss of PCLO function underlies pontocerebellar hypoplasia type III.

Neurology

journal-article

Loss of PCLO function underlies pontocerebellar hypoplasia type III

Neurology

journal-article

Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9.

Blood

journal-article

LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure.

JIMD reports

journal-article

Mutations in PYCR2, encoding pyrroline-5-carboxylate reductase 2, cause microcephaly and hypomyelination

American Journal of Human Genetics

journal-article

Loss of PCLO function underlies pontocerebellar hypoplasia type III.

Neurology

journal-article

LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure.

JIMD reports

journal-article

Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9.

Blood

journal-article

Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9

Blood

journal-article

Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination.

American journal of human genetics

journal-article

Mutations in PYCR2, encoding pyrroline-5-carboxylate reductase 2, cause microcephaly and hypomyelination

American Journal of Human Genetics

journal-article

Loss of PCLO function underlies pontocerebellar hypoplasia type III

Neurology

journal-article

Expanding the phenotype associated with the NEFL mutation: neuromuscular disease in a family with overlapping myopathic and neurogenic findings.

JAMA neurology

journal-article

Expanding the phenotype associated with the NEFL mutation neuromuscular disease in a family with overlapping myopathic and neurogenic findings

JAMA Neurology

journal-article

Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD).

Blood

journal-article

Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD)

Blood

journal-article

X-linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA-binding site mutations

American Journal of Hematology

journal-article

Expanding the phenotype associated with the NEFL mutation: neuromuscular disease in a family with overlapping myopathic and neurogenic findings.

JAMA neurology

journal-article

Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD).

Blood

journal-article

Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD)

Blood

journal-article

X-linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA-binding site mutations

American Journal of Hematology

journal-article

Expanding the phenotype associated with the NEFL mutation neuromuscular disease in a family with overlapping myopathic and neurogenic findings

JAMA Neurology

journal-article

GATA2 Mutations In Pediatric Myelodysplastic Syndromes and Bone Marrow Failure

Blood

journal-article

Using whole-exome sequencing to identify inherited causes of autism.

Neuron

journal-article

A novel rat model of hereditary hemochromatosis due to a mutation in transferrin receptor 2.

Comparative medicine

journal-article

A novel rat model of hereditary hemochromatosis due to a mutation in transferrin receptor 2

Comparative Medicine

journal-article

Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy

Neurology

journal-article

X-linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA-binding site mutations.

American journal of hematology

journal-article

Using Whole-Exome Sequencing to Identify Inherited Causes of Autism

Neuron

journal-article

Rare complete loss of function provides insight into a pleiotropic genome-wide association study locus.

Blood

journal-article

Rare complete loss of function provides insight into a pleiotropic genome-wide association study locus

Blood

journal-article

P.9.5 A novel NEFL gene mutation is identified in a family diagnosed with Nemaline Myopathy

Neuromuscular Disorders

journal-article

Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy.

Neurology

journal-article

Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy

Neurology

journal-article

A novel rat model of hereditary hemochromatosis due to a mutation in transferrin receptor 2.

Comparative medicine

journal-article

Using whole-exome sequencing to identify inherited causes of autism.

Neuron

journal-article

Using Whole-Exome Sequencing to Identify Inherited Causes of Autism

Neuron

journal-article

A novel rat model of hereditary hemochromatosis due to a mutation in transferrin receptor 2

Comparative Medicine

journal-article

P.9.5 A novel NEFL gene mutation is identified in a family diagnosed with Nemaline Myopathy

Neuromuscular Disorders

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GATA2 Mutations In Pediatric Myelodysplastic Syndromes and Bone Marrow Failure

Blood

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Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy.

Neurology

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Rare complete loss of function provides insight into a pleiotropic genome-wide association study locus.

Blood

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Rare complete loss of function provides insight into a pleiotropic genome-wide association study locus

Blood

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X-linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA-binding site mutations.

American journal of hematology

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Demand for mini cars and large cars; decay effects, and gasoline demand in Japan

Energy Policy

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Demand for mini cars and large cars; decay effects, and gasoline demand in Japan

Energy Policy

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Demand for mini cars and large cars; decay effects, and gasoline demand in Japan

Energy Policy

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Demand for mini cars and large cars; decay effects, and gasoline demand in Japan

Energy Policy

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Pricing exotic options using MSL-MC

Quantitative Finance

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Pricing exotic options using MSL-MC

Quantitative Finance

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θ Scheme (Orthogonal Milstein Scheme), a Better Numerical Approximation for Multi-dimensional SDEs

Global J Comp Sci Tech

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θ Scheme (Orthogonal Milstein Scheme), a Better Numerical Approximation for Multi-dimensional SDEs

Global J Comp Sci Tech

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Pricing Exotic Options Using Strong Convergence Properties. Progress in Industrial Mathematics at ECMI 2006

Springer Berlin Heidelberg

research-technique

Mini symposium “Finance” (Oxford). Progress in Industrial Mathematics at ECMI 2006:

Springer Berlin Heidelberg

research-technique

Pricing Exotic Options Using Strong Convergence Properties. Progress in Industrial Mathematics at ECMI 2006

Springer Berlin Heidelberg

research-technique

Mini symposium “Finance” (Oxford). Progress in Industrial Mathematics at ECMI 2006:

Springer Berlin Heidelberg

research-technique

Measure Order of Convergence without an Exact Solution, Euler vs. Milstein Scheme

Int J Pure Appl Math

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Planning Drinking Water for Airplanes. Study Group Mathematics & Industry 2005, Vrije University Amsterdam, 2005.

conference-paper

Measure Order of Convergence without an Exact Solution, Euler vs. Milstein Scheme

Int J Pure Appl Math

journal-article

Planning Drinking Water for Airplanes. Study Group Mathematics & Industry 2005, Vrije University Amsterdam, 2005.

conference-paper

Frequency Filtering in Telecommunications. 17th European Modelling Week, University of Bristol, UK, 2004.

conference-paper

Frequency Filtering in Telecommunications. 17th European Modelling Week, University of Bristol, UK, 2004.

conference-paper