Works by Chowdhury, Shimul

Results: 23

Ending a diagnostic odyssey: Moving from exome to genome to identify cockayne syndrome.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 7, p. 1, doi. 10.1002/mgg3.1623

By:

Friedman, Jennifer;
Bird, Lynne M.;
Haas, Richard;
Robbins, Shira L.;
Nahas, Shareef A.;
Dimmock, David P.;
Yousefzadeh, Matthew J.;
Witt, Mariah A.;
Niedernhofer, Laura J.;
Chowdhury, Shimul

Publication type:

Article

Whole exome sequencing in patients with white matter abnormalities.

Published in:

2016

By:

Vanderver, Adeline;
Simons, Cas;
Helman, Guy;
Crawford, Joanna;
Wolf, Nicole I.;
Bernard, Geneviève;
Pizzino, Amy;
Schmidt, Johanna L.;
Takanohashi, Asako;
Miller, David;
Khouzam, Amirah;
Rajan, Vani;
Ramos, Erica;
Chowdhury, Shimul;
Hambuch, Tina;
Ru, Kelin;
Baillie, Gregory J.;
Grimmond, Sean M.;
Caldovic, Ljubica;
Devaney, Joseph

Publication type:

journal article

Rapid whole-genome sequencing identifies a homozygous novel variant, His540Arg, in HSD17B4 resulting in D-bifunctional protein deficiency disorder diagnosis.

Published in:

Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 6, p. 1, doi. 10.1101/mcs.a005496

By:

Savage, Lane;
Adams, Stacie D.;
James, Kiely;
Chowdhury, Shimul;
Rajasekaran, Surender;
Prokop, Jeremy W.;
Bupp, Caleb

Publication type:

Article

Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases.

Published in:

Genome Medicine, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13073-021-00965-0

By:

De La Vega, Francisco M.;
Chowdhury, Shimul;
Moore, Barry;
Frise, Erwin;
McCarthy, Jeanette;
Hernandez, Edgar Javier;
Wong, Terence;
James, Kiely;
Guidugli, Lucia;
Agrawal, Pankaj B.;
Genetti, Casie A.;
Brownstein, Catherine A.;
Beggs, Alan H.;
Löscher, Britt-Sabina;
Franke, Andre;
Boone, Braden;
Levy, Shawn E.;
Õunap, Katrin;
Pajusalu, Sander;
Huentelman, Matt

Publication type:

Article

Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases.

Published in:

Genome Medicine, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13073-021-00965-0

By:

De La Vega, Francisco M.;
Chowdhury, Shimul;
Moore, Barry;
Frise, Erwin;
McCarthy, Jeanette;
Hernandez, Edgar Javier;
Wong, Terence;
James, Kiely;
Guidugli, Lucia;
Agrawal, Pankaj B.;
Genetti, Casie A.;
Brownstein, Catherine A.;
Beggs, Alan H.;
Löscher, Britt-Sabina;
Franke, Andre;
Boone, Braden;
Levy, Shawn E.;
Õunap, Katrin;
Pajusalu, Sander;
Huentelman, Matt

Publication type:

Article

Report of two cases of Schaaf‐Yang syndrome: Same genotype and different phenotype.

Published in:

2023

By:

Rodriguez, Ana Maria;
Schain, Katherine;
Jayakar, Parul;
Wright, Meredith S.;
Chowdhury, Shimul;
Salyakina, Daria

Publication type:

Case Study

Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy.

Published in:

Nature Communications, 2019, v. 10, n. 1, p. 1, doi. 10.1038/s41467-018-07067-3

By:

Friedman, Jennifer;
Smith, Desiree E.;
Issa, Mahmoud Y.;
Stanley, Valentina;
Wang, Rengang;
Mendes, Marisa I.;
Wright, Meredith S.;
Wigby, Kristen;
Hildreth, Amber;
Crawford, John R.;
Koehler, Alanna E.;
Chowdhury, Shimul;
Nahas, Shareef;
Zhai, Liting;
Xu, Zhiwen;
Lo, Wing-Sze;
James, Kiely N.;
Musaev, Damir;
Accogli, Andrea;
Guerrero, Kether

Publication type:

Article

Failure to thrive - an overlooked manifestation of KMT2B-related dystonia: a case presentation.

Published in:

2020

By:

Ng, Andrew;
Galosi, Serena;
Salz, Lisa;
Wong, Terence;
Schwager, Caitlin;
Amudhavalli, Shivarajan;
Gelineau-Morel, Rose;
Chowdhury, Shimul;
Friedman, Jennifer;
Rady Children’s Institute for Genomic Medicine Investigators

Publication type:

journal article

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

Published in:

Science Translational Medicine, 2019, v. 11, n. 489, p. N.PAG, doi. 10.1126/scitranslmed.aat6177

By:

Clark, Michelle M.;
Hildreth, Amber;
Batalov, Sergey;
Ding, Yan;
Chowdhury, Shimul;
Watkins, Kelly;
Ellsworth, Katarzyna;
Camp, Brandon;
Kint, Cyrielle I.;
Yacoubian, Calum;
Farnaes, Lauge;
Bainbridge, Matthew N.;
Beebe, Curtis;
Braun, Joshua J. A.;
Bray, Margaret;
Carroll, Jeanne;
Cakici, Julie A.;
Caylor, Sara A.;
Clarke, Christina;
Creed, Mitchell P.

Publication type:

Article

Diagnosis and treatment of a boy with IPEX syndrome presenting with diabetes in early infancy.

Published in:

Clinical Case Reports, 2019, v. 7, n. 11, p. 2123, doi. 10.1002/ccr3.2438

By:

Kadakia, Sejal;
Farnaes, Lauge;
Dimmock, David;
Chowdhury, Shimul;
Ding, Yan;
Anderson, Eric J.;
Kingsmore, Stephen;
Newfield, Ron S.

Publication type:

Article

Reclassification of the Etiology of Infant Mortality With Whole-Genome Sequencing.

Published in:

JAMA Network Open, 2023, v. 6, n. 2, p. e2254069, doi. 10.1001/jamanetworkopen.2022.54069

By:

Owen, Mallory J.;
Wright, Meredith S.;
Batalov, Sergey;
Kwon, Yonghyun;
Ding, Yan;
Chau, Kevin K.;
Chowdhury, Shimul;
Sweeney, Nathaly M.;
Kiernan, Elizabeth;
Richardson, Andrew;
Batton, Emily;
Baer, Rebecca J.;
Bandoli, Gretchen;
Gleeson, Joseph G.;
Bainbridge, Matthew;
Chambers, Christina D.;
Kingsmore, Stephen F.

Publication type:

Article

Postmortem whole-genome sequencing on a dried blood spot identifies a novel homozygous SUOX variant causing isolated sulfite oxidase deficiency.

Published in:

Cold Spring Harbor Molecular Case Studies, 2021, v. 7, n. 3, p. 1, doi. 10.1101/mcs.a006091

By:

Owen, Mallory J.;
Lenberg, Jerica;
Feigenbaum, Annette;
Gold, Jeffrey;
Chau, Kevin;
Bezares-Orin, Zaira;
Yan Ding;
Chowdhury, Shimul;
Kingsmore, Stephen F.

Publication type:

Article

Genetic Epidemiology and Nonsyndromic Structural Birth Defects.

Published in:

JAMA Pediatrics, 2014, v. 168, n. 4, p. 371, doi. 10.1001/jamapediatrics.2013.4858

By:

Hobbs, Charlotte A.;
Chowdhury, Shimul;
Cleves, Mario A.;
Erickson, Stephen;
MacLeod, Stewart L.;
Shaw, Gary M.;
Shete, Sanjay;
Witte, John S.;
Tycko, Benjamin

Publication type:

Article

Maternal Genome-Wide DNA Methylation Patterns and Congenital Heart Defects.

Published in:

PLoS ONE, 2011, v. 6, n. 1, p. 1, doi. 10.1371/journal.pone.0016506

By:

Chowdhury, Shimul;
Erickson, Stephen W.;
MacLeod, Stewart L.;
Cleves, Mario A.;
Ping Hu;
Karim, Mohammad A.;
Hobbs, Charlotte A.

Publication type:

Article

Publisher Correction: Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease.

Published in:

2021

By:

Sweeney, Nathaly M.;
Nahas, Shareef A.;
Chowdhury, Shimul;
Batalov, Sergey;
Clark, Michelle;
Caylor, Sara;
Cakici, Julie;
Nigro, John J.;
Ding, Yan;
Veeraraghavan, Narayanan;
Hobbs, Charlotte;
Dimmock, David;
Kingsmore, Stephen F.

Publication type:

Correction Notice

Author Correction: Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease.

Published in:

2021

By:

Sweeney, Nathaly M.;
Nahas, Shareef A.;
Chowdhury, Shimul;
Batalov, Sergey;
Clark, Michelle;
Caylor, Sara;
Cakici, Julie;
Nigro, John J.;
Ding, Yan;
Veeraraghavan, Narayanan;
Hobbs, Charlotte;
Dimmock, David;
Kingsmore, Stephen F.

Publication type:

Correction Notice

Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline disease.

Published in:

NPJ Genomic Medicine, 2020, v. 5, n. 1, p. N.PAG, doi. 10.1038/s41525-020-00154-9

By:

Marshall, Christian R.;
Chowdhury, Shimul;
Taft, Ryan J.;
Lebo, Mathew S.;
Buchan, Jillian G.;
Harrison, Steven M.;
Rowsey, Ross;
Klee, Eric W.;
Liu, Pengfei;
Worthey, Elizabeth A.;
Jobanputra, Vaidehi;
Dimmock, David;
Kearney, Hutton M.;
Bick, David;
Kulkarni, Shashikant;
Taylor, Stacie L.;
Belmont, John W.;
Stavropoulos, Dimitri J.;
Lennon, Niall J.

Publication type:

Article

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

Published in:

NPJ Genomic Medicine, 2020, v. 5, n. 1, p. 1, doi. 10.1038/s41525-020-00140-1

By:

James, Kiely N.;
Clark, Michelle M.;
Camp, Brandon;
Kint, Cyrielle;
Schols, Peter;
Batalov, Sergey;
Briggs, Benjamin;
Veeraraghavan, Narayanan;
Chowdhury, Shimul;
Kingsmore, Stephen F.

Publication type:

Article

Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization.

Published in:

NPJ Genomic Medicine, 2018, v. 3, n. 1, p. N.PAG, doi. 10.1038/s41525-018-0049-4

By:

Farnaes, Lauge;
Hildreth, Amber;
Sweeney, Nathaly M.;
Clark, Michelle M.;
Chowdhury, Shimul;
Nahas, Shareef;
Cakici, Julie A.;
Benson, Wendy;
Kaplan, Robert H.;
Kronick, Richard;
Bainbridge, Matthew N.;
Friedman, Jennifer;
Gold, Jeffrey J.;
Ding, Yan;
Veeraraghavan, Narayanan;
Dimmock, David;
Kingsmore, Stephen F.

Publication type:

Article

Novel Variant Findings and Challenges Associated With the Clinical Integration of Genomic Testing: An Interim Report of the Genomic Medicine for Ill Neonates and Infants (GEMINI) Study.

Published in:

JAMA Pediatrics, 2021, v. 175, n. 5, p. e205906, doi. 10.1001/jamapediatrics.2020.5906

By:

Maron, Jill L.;
Kingsmore, Stephen F.;
Wigby, Kristen;
Chowdhury, Shimul;
Dimmock, David;
Poindexter, Brenda;
Suhrie, Kristen;
Vockley, Jerry;
Diacovo, Thomas;
Gelb, Bruce D.;
Stroustrup, Annemarie;
Powell, Cynthia M.;
Trembath, Andrea;
Gallen, Matthew;
Mullen, Thomas E.;
Tanpaiboon, Pranoot;
Reed, Dallas;
Kurfiss, Anne;
Davis, Jonathan M.

Publication type:

Article

Heterozygous WNT1 variant causing a variable bone phenotype.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2419, doi. 10.1002/ajmg.a.40347

By:

Alhamdi, Shatha;
Lee, Yi‐Chien;
Chowdhury, Shimul;
Byers, Peter H.;
Gottschalk, Michael;
Taft, Ryan J.;
Joeng, Kyu Sang;
Lee, Brendan H.;
Bird, Lynne M.

Publication type:

Article

Phenotypic and molecular characterization of 19q12q13.1 deletions: A report of five patients.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. 62, doi. 10.1002/ajmg.a.36201

By:

Chowdhury, Shimul;
Bandholz, Anne M.;
Parkash, Sandhya;
Dyack, Sarah;
Rideout, Andrea L.;
Leppig, Kathleen A.;
Thiese, Heidi;
Wheeler, Patricia G.;
Tsang, Marilyn;
Ballif, Blake C.;
Shaffer, Lisa G.;
Torchia, Beth S.;
Ellison, Jay W.;
Rosenfeld, Jill A.

Publication type:

Article

Best practices for the interpretation and reporting of clinical whole genome sequencing.

Published in:

NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00295-z

By:

Austin-Tse, Christina A.;
Jobanputra, Vaidehi;
Perry, Denise L.;
Bick, David;
Taft, Ryan J.;
Venner, Eric;
Gibbs, Richard A.;
Young, Ted;
Barnett, Sarah;
Belmont, John W.;
Boczek, Nicole;
Chowdhury, Shimul;
Ellsworth, Katarzyna A.;
Guha, Saurav;
Kulkarni, Shashikant;
Marcou, Cherisse;
Meng, Linyan;
Murdock, David R.;
Rehman, Atteeq U.;
Spiteri, Elizabeth

Publication type:

Article