Shirlee Shril

Boston Children's Hospital

Research Expertise

Genetics

Nephrology

Critical Care and Intensive Care Medicine

Transplantation

Epidemiology

Genetics (clinical)

Pediatrics, Perinatology and Child Health

Internal Medicine

Molecular Biology

Biochemistry

Cell Biology

Urology

Endocrinology

Endocrinology, Diabetes and Metabolism

Biochemistry (medical)

Clinical Biochemistry

Legacy Map

Publications

A Single-Gene Cause in 29.5% of Cases of Steroid-Resistant Nephrotic Syndrome

Journal of the American Society of Nephrology

Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome

Clinical Journal of the American Society of Nephrology

Monogenic causes of chronic kidney disease in adults

Kidney International

Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency

Journal of Clinical Investigation

Faculty Opinions recommendation of Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature

Genetics of Congenital Anomalies of the Kidneys and Urinary Tract

Congenital Anomalies of the Kidney and Urinary Tract

Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome

Nature Genetics

Novel Insights into the Pathogenesis of Monogenic Congenital Anomalies of the Kidney and Urinary Tract

Journal of the American Society of Nephrology

Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis

Kidney International

Prevalence of Monogenic Causes in Pediatric Patients with Nephrolithiasis or Nephrocalcinosis

Clinical Journal of the American Society of Nephrology

Whole-Exome Sequencing Enables a Precision Medicine Approach for Kidney Transplant Recipients

Journal of the American Society of Nephrology

Faculty Opinions recommendation of Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature

Exome Sequencing Discerns Syndromes in Patients from Consanguineous Families with Congenital Anomalies of the Kidneys and Urinary Tract

Journal of the American Society of Nephrology

Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome

Journal of Clinical Investigation

Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity

Kidney International

Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter Development

The American Journal of Human Genetics

Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations

The American Journal of Human Genetics

Mutations in WDR4 as a new cause of Galloway–Mowat syndrome

American Journal of Medical Genetics Part A

Mutations in SLC26A1 Cause Nephrolithiasis

The American Journal of Human Genetics

GAPVD1 and ANKFY1 Mutations Implicate RAB5 Regulation in Nephrotic Syndrome

Journal of the American Society of Nephrology

Whole exome sequencing identified ATP6V1C2 as a novel candidate gene for recessive distal renal tubular acidosis

Kidney International

A Dominant Mutation in Nuclear Receptor Interacting Protein 1 Causes Urinary Tract Malformations via Dysregulation of Retinoic Acid Signaling

Journal of the American Society of Nephrology

Advillin acts upstream of phospholipase C ϵ1 in steroid-resistant nephrotic syndrome

Journal of Clinical Investigation

Gene panel sequencing identifies a likely monogenic cause in 7% of 235 Pakistani families with nephrolithiasis

Dominant PAX2 mutations may cause steroid-resistant nephrotic syndrome and FSGS in children

Pediatric Nephrology

Analysis of 24 genes reveals a monogenic cause in 11.1% of cases with steroid-resistant nephrotic syndrome at a single center

Pediatric Nephrology

Mutations of ADAMTS9 Cause Nephronophthisis-Related Ciliopathy

The American Journal of Human Genetics

Exome sequencing in Jewish and Arab patients with rhabdomyolysis reveals single-gene etiology in 43% of cases

Pediatric Nephrology

Mutations in KIRREL1, a slit diaphragm component, cause steroid-resistant nephrotic syndrome

Kidney International

Genetic variants in the LAMA5 gene in pediatric nephrotic syndrome

Nephrology Dialysis Transplantation

Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations

The American Journal of Human Genetics

Recessive NOS1AP variants impair actin remodeling and cause glomerulopathy in humans and mice

Science Advances

Mouse genetics reveals Barttin as a genetic modifier of Joubert syndrome

Proceedings of the National Academy of Sciences

CAKUT and Autonomic Dysfunction Caused by Acetylcholine Receptor Mutations

The American Journal of Human Genetics

Whole Exome Sequencing Reveals a Monogenic Cause of Disease in ≈43% of 35 Families With Midaortic Syndrome

Acute multi-sgRNA knockdown of KEOPS complex genes reproduces the microcephaly phenotype of the stable knockout zebrafish model

Panel sequencing distinguishes monogenic forms of nephritis from nephrosis in children

Nephrology Dialysis Transplantation

Targeted sequencing of 96 renal developmental microRNAs in 1213 individuals from 980 families with congenital anomalies of the kidney and urinary tract

Nephrology Dialysis Transplantation

COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humans

DAAM2 Variants Cause Nephrotic Syndrome via Actin Dysregulation

The American Journal of Human Genetics

Phenotype expansion of heterozygous FOXC1 pathogenic variants toward involvement of congenital anomalies of the kidneys and urinary tract (CAKUT)

Genetics in Medicine

Progressive Pseudorheumatoid Dysplasia resolved by whole exome sequencing: a novel mutation in WISP3 and review of the literature

BMC Medical Genetics

Copy Number Variant Analysis and Genome-wide Association Study Identify Loci with Large Effect for Vesicoureteral Reflux

Journal of the American Society of Nephrology

Mutations in PRDM15 Are a Novel Cause of Galloway-Mowat Syndrome

Journal of the American Society of Nephrology

Faculty Opinions recommendation of De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature

Review of: "A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features"

Whole-Exome Sequencing Reveals FAT4 Mutations in a Clinically Unrecognizable Patient with Syndromic CAKUT: A Case Report

Molecular Syndromology

Reverse phenotyping facilitates disease allele calling in exome sequencing of patients with CAKUT

Genetics in Medicine

A discarded synonymous variant in NPHP3 explains nephronophthisis and congenital hepatic fibrosis in several families

A homozygous missense variant in VWA2, encoding an interactor of the Fraser-complex, in a patient with vesicoureteral reflux

Biallelic pathogenic variants in roundabout guidance receptor 1 associate with syndromic congenital anomalies of the kidney and urinary tract

Kidney International

Cystin genetic variants cause autosomal recessive polycystic kidney disease associated with altered Myc expression

Scientific Reports

Whole-exome sequencing identifiesFOXL2,FOXA2andFOXA3as candidate genes for monogenic congenital anomalies of the kidneys and urinary tract

Nephrology Dialysis Transplantation

Exome survey of individuals affected by VATER/VACTERL with renal phenotypes identifies phenocopies and novel candidate genes

American Journal of Medical Genetics Part A

Recessive Mutations in SYNPO2 as a Candidate of Monogenic Nephrotic Syndrome

Kidney International Reports

Homozygous WNT9B variants in two families with bilateral renal agenesis/hypoplasia/dysplasia

American Journal of Medical Genetics Part A

Novel nephronophthisis-associated variants reveal functional importance of MAPKBP1 dimerization for centriolar recruitment

Kidney International

Author Correction: The copy number variation landscape of congenital anomalies of the kidney and urinary tract

Nature Genetics

Multipopulation genome-wide association meta-analysis in pediatric steroid-sensitive nephrotic syndrome

Kidney International

Proteomic analysis identifies ZMYM2 as endogenous binding partner of TBX18 protein in 293 and A549 cells

Biochemical Journal

A truncating NRIP1 variant in an Arabic family with congenital anomalies of the kidneys and urinary tract

American Journal of Medical Genetics Part A

A Rare Autosomal Dominant Variant in Regulator of Calcineurin Type 1 (RCAN1) Gene Confers Enhanced Calcineurin Activity and May Cause FSGS

Journal of the American Society of Nephrology

Copy Number Variation Analysis Facilitates Identification of Genetic Causation in Patients with Congenital Anomalies of the Kidney and Urinary Tract

European Urology Open Science

Whole exome sequencing identifies potential candidate genes for spina bifida derived from mouse models

American Journal of Medical Genetics Part A

Generation of Monogenic Candidate Genes for Human Nephrotic Syndrome Using 3 Independent Approaches

Kidney International Reports

The genetics and pathogenesis of CAKUT

Nature Reviews Nephrology

Genetic Variants in ARHGEF6 Cause Congenital Anomalies of the Kidneys and Urinary Tract in Humans, Mice, and Frogs

Journal of the American Society of Nephrology

Sequencing the CaSR locus in Pakistani stone formers reveals a novel loss-of-function variant atypically associated with nephrolithiasis

BMC Medical Genomics

Mutations in transcription factor CP2-like 1 may cause a novel syndrome with distal renal tubulopathy in humans

Nephrology Dialysis Transplantation

Cystin gene mutations cause autosomal recessive polycystic kidney disease associated with alteredMycexpression

Exome sequencing identifies a likely causative variant in 53% of families with ciliopathy-related features on renal ultrasound after excluding NPHP1 deletions

Genes & Diseases

Copy number variation analysis in 138 families with steroid-resistant nephrotic syndrome identifies causal homozygous deletions in PLCE1 and NPHS2 in two families

Pediatric Nephrology

Prioritization of Monogenic Congenital Anomalies of the Kidney and Urinary Tract Candidate Genes with Existing Single-Cell Transcriptomics Data of the Human Fetal Kidney

Genetic stratification reveals COL4A variants and spontaneous remission in Egyptian children with proteinuria in the first 2 years of life

Acta Paediatrica

Recessive CHRM5 variant as a potential cause of neurogenic bladder

American Journal of Medical Genetics Part A

A homozygous truncating ETV4 variant in a Nigerian family with congenital anomalies of the kidney and urinary tract

American Journal of Medical Genetics Part A

WCN23-0159 ENPP6 IS A POTENTIAL NOVEL CANDIDATE GENE FOR MONOGENIC CONGENITAL ANOMALIES OF THE KIDNEYS AND URINARY TRACT

Kidney International Reports

OXGR1 is a candidate disease gene for human calcium oxalate nephrolithiasis

Genetics in Medicine

Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease

More than a fancy exome: unique capabilities of genome sequencing for pediatric rare disease diagnosis

Molecular Genetics and Metabolism

Multi-population genome-wide association study implicates both immune and non-immune factors in the etiology of pediatric steroid sensitive nephrotic syndrome

A Novel Form of Familial Vasopressin Deficient Diabetes Insipidus Transmitted in an X-linked Recessive Manner

The Journal of Clinical Endocrinology & Metabolism

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