Sergey Batalov - Dissemin

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All papers authored by Sergey Batalov

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2023 Yan Ding, Mallory Owen, Jennie Le, Sergey Batalov

ORCID

, Kevin Chau, Yong Hyun Kwon, Lucita Van Der Kraan, Zaira Bezares-Orin, Zhanyang Zhu, Narayanan Veeraraghavan

ORCID

, Shareef Nahas, Matthew Bainbridge, Joe Gleeson, Rebecca J. Baer

ORCID

, Gretchen Bandoli and 2 other authors

Scalable, high quality, whole genome sequencing from archived, newborn, dried blood spots

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2022 Erica Sanford Kobayashi, Serge Batalov

ORCID

, Aaron M. Wenger, Christine Lambert, Harsharan Dhillon, Richard J. Hall, Primo Baybayan, Yan Ding, Seema Rego, Kristen Wigby, Jennifer Friedman, Charlotte Hobbs, Matthew N. Bainbridge

Approaches to long-read sequencing in a clinical setting to improve diagnostic rate

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Stephen F. Kingsmore

ORCID

, Laurie D. Smith, Chris M. Kunard, Matthew Bainbridge, Sergey Batalov

ORCID

, Wendy Benson, Eric Blincow, Sara Caylor, Christina Chambers, Guillermo Del Angel, David P. Dimmock, Yan Ding, Katarzyna Ellsworth, Annette Feigenbaum, Erwin Frise and 36 other authors

A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases

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Mallory J. Owen, Sebastien Lefebvre

ORCID

, Christian Hansen, Chris M. Kunard, David P. Dimmock

ORCID

, Laurie D. Smith, Gunter Scharer, Rebecca Mardach, Mary J. Willis, Annette Feigenbaum, Anna-Kaisa Niemi, Yan Ding, Luca Van Der Kraan, Katarzyna Ellsworth, Lucia Guidugli and 50 other authors

An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases

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2021 Mallory J. Owen, Anna-Kaisa Niemi, David P. Dimmock, Mark Speziale, Mark Nespeca, Kevin K. Chau, Luca Van Der Kraan, Meredith S. Wright, Christian Hansen, Narayanan Veeraraghavan, Yan Ding, Jerica Lenberg, Shimul Chowdhury, Charlotte A. Hobbs, Sergey Batalov

ORCID

and 16 other authors

Rapid Sequencing-Based Diagnosis of Thiamine Metabolism Dysfunction Syndrome

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This paper is made freely available by the publisher.

This paper is made freely available by the publisher.

This paper was not found in any repository, but could be made available legally by the author.

2020 David P. Dimmock, Michelle M. Clark, Mary Gaughran, Julie A. Cakici, Sara A. Caylor, Christina Clarke, Michele Feddock, Shimul Chowdhury, Lisa Salz, Cynthia Cheung, Lynne M. Bird, Charlotte Hobbs, Kristen Wigby, Lauge Farnaes, Cinnamon S. Bloss and 52 other authors

An RCT of Rapid Genomic Sequencing among Seriously Ill Infants Results in High Clinical Utility, Changes in Management, and Low Perceived Harm

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Kiely N. James

ORCID

, Michelle M. Clark, Brandon Camp, Cyrielle Kint, Peter Schols, Sergey Batalov

ORCID

, Benjamin Briggs, Narayanan Veeraraghavan, Shimul Chowdhury, Stephen F. Kingsmore

Partially automated whole-genome sequencing reanalysis of previously undiagnosed pediatric patients can efficiently yield new diagnoses

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2019 Stephen F. Kingsmore, Julie A. Cakici, Michelle M. Clark, Mary Gaughran, Michele Feddock, Sergey Batalov

ORCID

, Matthew N. Bainbridge, Jeanne Carroll, Sara A. Caylor, Christina Clarke, Yan Ding, Katarzyna Ellsworth, Lauge Farnaes, Amber Hildreth, Charlotte Hobbs and 55 other authors

A Randomized, Controlled Trial of the Analytic and Diagnostic Performance of Singleton and Trio, Rapid Genome and Exome Sequencing in Ill Infants

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Michelle M. Clark

ORCID

, Amber Hildreth

ORCID

, Sergey Batalov

ORCID

, Yan Ding

ORCID

, Shimul Chowdhury, Kelly Watkins

ORCID

, Katarzyna Ellsworth

ORCID

, Brandon Camp, Cyrielle I. Kint, Calum Yacoubian, Lauge Farnaes, Matthew N. Bainbridge, Curtis Beebe, Joshua J. A. Braun

ORCID

, Margaret Bray

ORCID

and 46 other authors

Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation

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This paper was not found in any repository; the policy of its publisher is unknown or unclear.

2018 Erica Sanford, Lauge Farnaes

ORCID

, Serge Batalov

ORCID

, Matthew Bainbridge

ORCID

, Susan Laubach

ORCID

, H. Michael Worthen, Mari Tokita, Stephen F. Kingsmore

ORCID

ORCID

Concomitant diagnosis of immune deficiency and Pseudomonas sepsis in a 19 month old with ecthyma gangrenosum by host whole-genome sequencing

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2017 Josh E. Petrikin, Julie A. Cakici

ORCID

, Michelle M. Clark, Laurel K. Willig, Nathaly M. Sweeney, Emily G. Farrow

ORCID

, Carol J. Saunders, Isabelle Thiffault, Neil A. Miller, Lee Zellmer, Suzanne M. Herd, Anne M. Holmes, Serge Batalov

ORCID

, Narayanana Veeraraghavan, Laurie D. Smith and 4 other authors

The NSIGHT1 Randomized Controlled Trial: Rapid Whole Genome Sequencing for Accelerated Etiologic Diagnosis in Critically Ill Infants

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This paper was not found in any repository; the policy of its publisher is unknown or unclear.

Amber Hildreth, Kristen Wigby, Shimul Chowdhury, Shareef Nahas, Jaime Barea, Paulina Ordonez, Sergey Batalov

ORCID

, David Dimmock, Stephen Kingsmore

Rapid whole-genome sequencing identifies a novel homozygous NPC1 variant associated with Niemann–Pick type C1 disease in a 7-week-old male with cholestasis

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Lauge Farnaes, Shareef A. Nahas, Shimul Chowdhury, James Nelson, Serge Batalov

ORCID

, David M. Dimmock, Stephen F. Kingsmore

Rapid whole-genome sequencing identifies a novel GABRA1 variant associated with West syndrome

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2014 Zongxiang Zhou, Manishha Patel, Nicholas Ng, Mindy H. Hsieh, Anthony P. Orth, John R. Walker, Serge Batalov

ORCID

, Jennifer L. Harris, Jun Liu

Identification of synthetic lethality of PRKDC in MYC-dependent human cancers by pooled shRNA screening

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Xiaolu Xu, Emily R. Jaeger, Xinxin Wang, Erica Lagler-Ferrez, Serge Batalov

ORCID

, Nancy L. Mathis, Tim Wiltshire, John R. Walker, Michael P. Cooke, Karsten Sauer, Yina H. Huang

Mst1 Directs Myosin IIa Partitioning of Low and Higher Affinity Integrins during T Cell Migration

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Anke Bill, Elizabeth M. Rosethorne, Toby C. Kent, Lindsay Fawcett, Lynn Burchell, Michiel T. van Diepen, Anthony Marelli, Sergey Batalov

ORCID

, Loren Miraglia, Anthony P. Orth, Nicole A. Renaud, Steven J. Charlton, Martin Gosling, L. Alex Gaither, L. Alex Gaither and 1 other authors

High Throughput Mutagenesis for Identification of Residues Regulating Human Prostacyclin (hIP) Receptor Expression and Function

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Taeksun Song, Yumi Park, Isdore Chola Shamputa, Sunghwa Seo, Sun Young Lee, Han-Seung Jeon, Hongjo Choi, Myungsun Lee, Richard J. Glynne, S. Whitney Barnes, John R. Walker, Serge Batalov

ORCID

, Karina Yusim, Shihai Feng, Chang-Shung Tung and 7 other authors

Fitness costs of rifampicin-resistance in Mycobacterium tuberculosis are amplified under conditions of nutrient starvation and compensated by mutation in the β’ subunit of RNA polymerase

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