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Amar Majmundar, MD, PhD
Co-Director, Kidney Genetics Clinic; Nephrologist, Division of Nephrology
Assistant Professor of Pediatrics, Harvard Medical School
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Amar Majmundar, MD, PhD
Co-Director, Kidney Genetics Clinic; Nephrologist, Division of Nephrology
Assistant Professor of Pediatrics, Harvard Medical School
Medical Services
Languages
English
Education
Undergraduate School
Temple University
2004
Philadelphia
PA
Graduate School
Perelman School of Medicine at University of Pennsylvania
2012
Philadelphia
PA
Medical School
Perelman School of Medicine at University of Pennsylvania
2013
Philadelphia
PA
Internship
Boston Combined Residency Program (BCRP)
2014
Boston
MA
Residency
Boston Combined Residency Program (BCRP)
2016
Boston
MA
Fellowship
Nephrology
Boston Children's Hospital
2020
Boston
MA
Media
Answers Blog
Two rising stars in kidney genetics: Nina Mann and Amar Majmundar
Certifications
American Board of Pediatrics (General)
American Board of Pediatrics (Nephrology)
Publications
Next-generation nephrology: part 2-mainstreaming genomics in nephrology, a global perspective. View Abstract
Next-generation nephrology: part 1-an aid for genetic and genomic testing in pediatric nephrology. View Abstract
Mesoscale landscaping of the TRIM protein family reveals a novel human condensatopathy. View Abstract
Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes. View Abstract
Mechanisms of podocyte injury in genetic kidney disease. View Abstract
Endothelial HIF-2a regulates murine pathological angiogenesis and revascularization processes. View Abstract
Expanding the spectrum of novel candidate genes using trio exome sequencing and identification of monogenic cause in 27.5% of 320 families with steroid-resistant nephrotic syndrome. View Abstract
Recessive variants in the intergenic NOS1AP-C1orf226 locus cause monogenic kidney disease responsive to anti-proteinuric treatment. View Abstract
Genetic Variants in ARHGEF6 Cause Congenital Anomalies of the Kidneys and Urinary Tract in Humans, Mice, and Frogs. View Abstract
OXGR1 is a candidate disease gene for human calcium oxalate nephrolithiasis. View Abstract
Activation of 2-oxoglutarate receptor 1 (OXGR1) by a-ketoglutarate (aKG) does not detectably stimulate Pendrin-mediated anion exchange in Xenopus oocytes. View Abstract
A Novel Form of Familial Vasopressin Deficient Diabetes Insipidus Transmitted in an X-linked Recessive Manner. View Abstract
Reverse phenotyping facilitates disease allele calling in exome sequencing of patients with CAKUT. View Abstract
Sequencing the CaSR locus in Pakistani stone formers reveals a novel loss-of-function variant atypically associated with nephrolithiasis. View Abstract
Cystin genetic variants cause autosomal recessive polycystic kidney disease associated with altered Myc expression. View Abstract
Mutations in PRDM15 Are a Novel Cause of Galloway-Mowat Syndrome. View Abstract
A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features. View Abstract
De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis. View Abstract
Mutations in transcription factor CP2-like 1 may cause a novel syndrome with distal renal tubulopathy in humans. View Abstract
Recessive NOS1AP variants impair actin remodeling and cause glomerulopathy in humans and mice. View Abstract
Generation of Monogenic Candidate Genes for Human Nephrotic Syndrome Using 3 Independent Approaches. View Abstract
DAAM2 Variants Cause Nephrotic Syndrome via Actin Dysregulation. View Abstract
Recessive Mutations in SYNPO2 as a Candidate of Monogenic Nephrotic Syndrome. View Abstract
Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations. View Abstract
CAKUT and Autonomic Dysfunction Caused by Acetylcholine Receptor Mutations. View Abstract
Whole exome sequencing identified ATP6V1C2 as a novel candidate gene for recessive distal renal tubular acidosis. View Abstract
Whole exome sequencing in childhood-onset lupus frequently detects single gene etiologies. View Abstract
Mutations in KIRREL1, a slit diaphragm component, cause steroid-resistant nephrotic syndrome. View Abstract
COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humans. View Abstract
Corticosteroid treatment exacerbates nephrotic syndrome in a zebrafish model of magi2a knockout. View Abstract
Panel sequencing distinguishes monogenic forms of nephritis from nephrosis in children. View Abstract
Genetic variants in the LAMA5 gene in pediatric nephrotic syndrome. View Abstract
Gene panel sequencing identifies a likely monogenic cause in 7% of 235 Pakistani families with nephrolithiasis. View Abstract
Whole-Exome Sequencing Enables a Precision Medicine Approach for Kidney Transplant Recipients. View Abstract
Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome. View Abstract
Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract. View Abstract
Mutations in WDR4 as a new cause of Galloway-Mowat syndrome. View Abstract
GAPVD1 and ANKFY1 Mutations Implicate RAB5 Regulation in Nephrotic Syndrome. View Abstract
Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment. View Abstract
Acute multi-sgRNA knockdown of KEOPS complex genes reproduces the microcephaly phenotype of the stable knockout zebrafish model. View Abstract
Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome. View Abstract
Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis. View Abstract
HIF modulation of Wnt signaling regulates skeletal myogenesis in vivo. View Abstract
Endothelial HIF-2a regulates murine pathological angiogenesis and revascularization processes. View Abstract
O(2) regulates skeletal muscle progenitor differentiation through phosphatidylinositol 3-kinase/AKT signaling. View Abstract
Hypoxia-inducible factors and the response to hypoxic stress. View Abstract
Hemodynamic and metabolic diffuse optical monitoring in a mouse model of hindlimb ischemia. View Abstract
HIF2alpha inhibition promotes p53 pathway activity, tumor cell death, and radiation responses. View Abstract
Epigenetic downregulation of the DNA repair gene MED1/MBD4 in colorectal and ovarian cancer. View Abstract
Combined millimeter wave and cyclophosphamide therapy of an experimental murine melanoma. View Abstract
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