Publications by authors named "Saurav Guha"

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Venous thromboembolism laboratory testing (factor V Leiden and factor II c.∗97G>A), 2025 revision: A technical standard of the American College of Medical Genetics and Genomics (ACMG).
Benjamin E Kang, Shulin Zhang, Harry Lesmana, Jeffrey Dungan, Kara Reynolds, Saurav Guha

Genet Med· August 2025

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Laboratory considerations for GRCh37 to GRCh38 reference genome transition: A laboratory quality assurance bulletin of the American College of Medical Genetics and Genomics (ACMG).
Vimla S Aggarwal, Saurav Guha, Matthew S Lebo, Kyle Retterer, Curt Scharfe

Genet Med Open· July 2025

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Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.
Caroline Nava, Benjamin Cogne, Amandine Santini, Elsa Leitão, François Lecoquierre, Saurav Guha

Nat Genet· June 2025

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Laboratory testing for preconception/prenatal carrier screening: A technical standard of the American College of Medical Genetics and Genomics (ACMG).
Saurav Guha, Honey V Reddi, Mahmoud Aarabi, Marina DiStefano, Erin Wakeling

Genet Med· July 2024

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Disaggregation of Green Space Access, Walkability, and Behavioral Risk Factor Data for Precise Estimation of Local Population Characteristics.
Saurav Guha, Michael Alonzo, Pierre Goovaerts, LuAnn L Brink, Meghana Ray

Int J Environ Res Public Health· June 2024

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Implementation of Rapid Genome Sequencing for Critically Ill Infants With Complex Congenital Heart Disease.
Thomas Hays, Rebecca Hernan, Michele Disco, Emily L Griffin, Nimrod Goldshtrom, Saurav Guha

Circ Genom Precis Med· October 2023

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Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients.
Noura S Abul-Husn, Priya N Marathe, Nicole R Kelly, Katherine E Bonini, Monisha Sebastin, Saurav Guha

Genet Med· September 2023

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Identification of copy number variants with genome sequencing: Clinical experiences from the NYCKidSeq program.
Katherine E Bonini, Amanda Thomas-Wilson, Priya N Marathe, Monisha Sebastin, Jacqueline A Odgis, Saurav Guha

Clin Genet· August 2023

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Multivariate small area modelling of undernutrition prevalence among under-five children in Bangladesh.
Saurav Guha, Sumonkanti Das, Bernard Baffour, Hukum Chandra

Int J Biostat· May 2023

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Detection of mosaic variants using genome sequencing in a large pediatric cohort.
Jacqueline A Odgis, Katie M Gallagher, Atteeq U Rehman, Priya N Marathe, Katherine E Bonini, Saurav Guha

Am J Med Genet A· March 2023

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Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients.
Noura S Abul-Husn, Priya N Marathe, Nicole R Kelly, Katherine E Bonini, Monisha Sebastin, Saurav Guha

medRxiv· March 2023

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Food insecurity in the Eastern Indo-Gangetic plain: Taking a closer look.
Saumyadipta Pyne, Saurav Guha, Sumonkanti Das, Meghana Ray, Hukum Chandra

PLoS One· January 2023

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Re-scaling and small area estimation of behavioral risk survey guided by social vulnerability data.
Shaina L Stacy, Hukum Chandra, Saurav Guha, Raanan Gurewitsch, Lu Ann L Brink

BMC Public Health· January 2023

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Best practices for the interpretation and reporting of clinical whole genome sequencing.
Christina A Austin-Tse, Vaidehi Jobanputra, Denise L Perry, David Bick, Ryan J Taft, Saurav Guha

NPJ Genom Med· April 2022

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Multivariate Small Area Modelling for Measuring Micro Level Earning Inequality: Evidence from Periodic Labour Force Survey of India.
Saurav Guha, Hukum Chandra

Soc Indic Res· January 2022

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Addendum: Technical standards and guidelines for spinal muscular atrophy testing.
Joshua L Deignan, Caroline Astbury, Andrea Behlmann, Saurav Guha, Kristin G Monaghan

Genet Med· December 2021

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Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies.
Laura M Amendola, Kathleen Muenzen, Leslie G Biesecker, Kevin M Bowling, Greg M Cooper, Saurav Guha

Am J Hum Genet· November 2020

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Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel.
Jun Shen, Andrea M Oza, Ignacio Del Castillo, Hatice Duzkale, Tatsuo Matsunaga, Saurav Guha

Genet Med· November 2019

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Independent evidence for an association between general cognitive ability and a genetic locus for educational attainment.
Joey W Trampush, Todd Lencz, Emma Knowles, Gail Davies, Saurav Guha

Am J Med Genet B Neuropsychiatr Genet· July 2015

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Excess of homozygosity in the major histocompatibility complex in schizophrenia.
Semanti Mukherjee, Saurav Guha, Masashi Ikeda, Nakao Iwata, Anil K Malhotra

Hum Mol Genet· November 2014

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Genome-wide mapping of IBD segments in an Ashkenazi PD cohort identifies associated haplotypes.
Vladimir Vacic, Laurie J Ozelius, Lorraine N Clark, Anat Bar-Shira, Mali Gana-Weisz, Saurav Guha

Hum Mol Genet· September 2014

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Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins.
Shai Carmi, Ken Y Hui, Ethan Kochav, Xinmin Liu, James Xue, Saurav Guha

Nat Commun· September 2014

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Genome-wide association study implicates NDST3 in schizophrenia and bipolar disorder.
Todd Lencz, Saurav Guha, Chunyu Liu, Jeffrey Rosenfeld, Semanti Mukherjee

Nat Commun· June 2014

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Brain white matter development is associated with a human-specific haplotype increasing the synthesis of long chain fatty acids.
Bart D Peters, Aristotle N Voineskos, Philip R Szeszko, Tristram A Lett, Pamela DeRosse, Saurav Guha

J Neurosci· April 2014

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Genetic variants associated with breast cancer risk for Ashkenazi Jewish women with strong family histories but no identifiable BRCA1/2 mutation.
Erica S Rinella, Yongzhao Shao, Lauren Yackowski, Sreemanta Pramanik, Ruth Oratz, Saurav Guha

Hum Genet· May 2013

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