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Author Details

Shrikant Mane
Yale School of Medicine
1989
207
70
PMIDPaper TitleJournal TitlePublished Year
36112114<i>HYDIN</i> Variants Are a Common Cause of Primary Ciliary Dyskinesia in French Canadians.Ann Am Thorac Soc2023
37850020Diagnostic Utility of Exome Sequencing Among Israeli Children With Kidney Failure.Kidney Int Rep2023
37978175Mutation of key signaling regulators of cerebrovascular development in vein of Galen malformations.Nat Commun2023
38091523LRRC23 truncation impairs radial spoke 3 head assembly and sperm motility underlying male infertility.Elife2023
36993588Genetic dysregulation of an endothelial Ras signaling network in vein of Galen malformations.bioRxiv2023
36995132Rare Single Nucleotide and Copy Number Variants and the Etiology of Congenital Obstructive Uropathy: Implications for Genetic Diagnosis.J Am Soc Nephrol2023
36879130Multiomic analyses implicate a neurodevelopmental program in the pathogenesis of cerebral arachnoid cysts.Nat Med2023
36803844Utility of promoter hypermethylation in malignant risk stratification of intraductal papillary mucinous neoplasms.Clin Epigenetics2023
36538032Inborn errors of OAS-RNase L in SARS-CoV-2-related multisystem inflammatory syndrome in children.Science2023
36571463OXGR1 is a candidate disease gene for human calcium oxalate nephrolithiasis.Genet Med2023
36865175LRRC23 truncation impairs radial spoke 3 head assembly and sperm motility underlying male infertility.bioRxiv2023
36414417Genetic Variants in ARHGEF6 Cause Congenital Anomalies of the Kidneys and Urinary Tract in Humans, Mice, and Frogs.J Am Soc Nephrol2023
34215651Whole-exome sequencing reveals a monogenic cause in 56% of individuals with laterality disorders and associated congenital heart defects.J Med Genet2022
35481623Mutation spectrum of congenital heart disease in a consanguineous Turkish population.Mol Genet Genomic Med2022
35545661Combining genomic and epidemiological data to compare the transmissibility of SARS-CoV-2 variants Alpha and Iota.Commun Biol2022
35576468The risk of COVID-19 death is much greater and age dependent with type I IFN autoantibodies.Proc Natl Acad Sci U S A2022
35625741Whole-Exome Sequencing of Germline Variants in Non-<i>BRCA</i> Families with Hereditary Breast Cancer.Biomedicines2022
36074124Biallelic DAW1 variants cause a motile ciliopathy characterized by laterality defects and subtle ciliary beating abnormalities.Genet Med2022
36185583Copy Number Variation Analysis Facilitates Identification of Genetic Causation in Patients with Congenital Anomalies of the Kidney and Urinary Tract.Eur Urol Open Sci2022
35043109The risk of COVID-19 death is much greater and age-dependent with type I IFN autoantibodies.Res Sq2022
35040250Whole exome sequencing identifies potential candidate genes for spina bifida derived from mouse models.Am J Med Genet A2022
35178554The role of SPAG1 in the assembly of axonemal dyneins in human airway epithelia.J Cell Sci2022
34906515Reverse phenotyping facilitates disease allele calling in exome sequencing of patients with CAKUT.Genet Med2022
35137152A Novel Form of Familial Vasopressin Deficient Diabetes Insipidus Transmitted in an X-linked Recessive Manner.J Clin Endocrinol Metab2022
34473308Whole-exome sequencing identifies FOXL2, FOXA2 and FOXA3 as candidate genes for monogenic congenital anomalies of the kidneys and urinary tract.Nephrol Dial Transplant2022
33432185Author Correction: Mutations disrupting neuritogenesis genes confer risk for cerebral palsy.Nat Genet2021
33593823Mutations in <i>PRDM15</i> Are a Novel Cause of Galloway-Mowat Syndrome.J Am Soc Nephrol2021
33508234De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis.Am J Hum Genet2021
33523862Recessive <i>NOS1AP</i> variants impair actin remodeling and cause glomerulopathy in humans and mice.Sci Adv2021
34521872Cystin genetic variants cause autosomal recessive polycystic kidney disease associated with altered Myc expression.Sci Rep2021
34685549Evaluation of an RNAseq-Based Immunogenomic Liquid Biopsy Approach in Early-Stage Prostate Cancer.Cells2021
34772415Sequencing the CaSR locus in Pakistani stone formers reveals a novel loss-of-function variant atypically associated with nephrolithiasis.BMC Med Genomics2021
34413140X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19.Sci Immunol2021
33968937Genetic Defects in <i>DNAH2</i> Underlie Male Infertility With Multiple Morphological Abnormalities of the Sperm Flagella in Humans and Mice.Front Cell Dev Biol2021
34125151DIAPH1 Variants in Non-East Asian Patients With Sporadic Moyamoya Disease.JAMA Neurol2021
34338422Exome survey of individuals affected by VATER/VACTERL with renal phenotypes identifies phenocopies and novel candidate genes.Am J Med Genet A2021
34230938Combining genomic and epidemiological data to compare the transmissibility of SARS-CoV-2 lineages.medRxiv2021
33433624Neuroinvasion of SARS-CoV-2 in human and mouse brain.J Exp Med2021
32989326Mutations disrupting neuritogenesis genes confer risk for cerebral palsy.Nat Genet2020
33615072Recessive Mutations in <i>SYNPO2</i> as a Candidate of Monogenic Nephrotic Syndrome.Kidney Int Rep2020
33615071Generation of Monogenic Candidate Genes for Human Nephrotic Syndrome Using 3 Independent Approaches.Kidney Int Rep2020
31872970Genome-wide association study of cognitive performance in U.S. veterans with schizophrenia or bipolar disorder.Am J Med Genet B Neuropsychiatr Genet2020
31959358Whole exome sequencing identified ATP6V1C2 as a novel candidate gene for recessive distal renal tubular acidosis.Kidney Int2020
33077954Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus.Nat Med2020
33103447Beyond the tubule: pathological variants of <i>LRP2</i>, encoding the megalin receptor, result in glomerular loss and early progressive chronic kidney disease.Am J Physiol Renal Physiol2020
33232676DAAM2 Variants Cause Nephrotic Syndrome via Actin Dysregulation.Am J Hum Genet2020
32891193Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations.Am J Hum Genet2020
32935108Neuroinvasion of SARS-CoV-2 in human and mouse brain.bioRxiv2020
32707086Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia.Am J Hum Genet2020
29534211Genetic variants in the LAMA5 gene in pediatric nephrotic syndrome.Nephrol Dial Transplant2019
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Collaborators

Richard P Lifton
The Rockefeller University
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Kaya Bilguvar
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Friedhelm Hildebrandt
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Co-authored papers 40
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Edwin H Cook
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Christopher A Walsh
Broad Institute of MIT and Harvard
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Christopher E Mason
Feil Family Brain and Mind Research Institute.
Co-authored papers 7
Heidi L Rehm
The Broad Institute of MIT and Harvard
Co-authored papers 7
Christa Lese Martin
Autism and Developmental Medicine Institute
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David H Ledbetter
University of Florida, College of Medicine-Jacksonville
Co-authored papers 7
Ali G Gharavi
Columbia University College of Physicians and Surgeons
Co-authored papers 7
Timothy W Yu
Harvard Medical School
Co-authored papers 7
Kathryn Roeder
Co-authored papers 7
Eric Fombonne
Oregon Health & Science University (OHSU)
Co-authored papers 7
Catherine Lord
University of California los angeles
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