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

por Rodriguez, Ana Maria, Schain, Katherine, Jayakar, Parul, Wright, Meredith S., Chowdhury, Shimul, Salyakina, Daria
Publicado 2023

Novel Factor XIII variant identified through whole-genome sequencing in a child with intracranial hemorrhage

por Briggs, Benjamin, James, Kiely N., Chowdhury, Shimul, Thornburg, Courtney, Farnaes, Lauge, Dimmock, David, Kingsmore, Stephen F.
Publicado 2018

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

por Savage, Lane, Adams, Stacie D., James, Kiely, Chowdhury, Shimul, Rajasekaran, Surender, Prokop, Jeremy W., Bupp, Caleb
Publicado 2020

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

por Farnaes, Lauge, Nahas, Shareef A., Chowdhury, Shimul, Nelson, James, Batalov, Serge, Dimmock, David M., Kingsmore, Stephen F.
Publicado 2017

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

por Kadakia, Sejal, Farnaes, Lauge, Dimmock, David, Chowdhury, Shimul, Ding, Yan, Anderson, Eric J., Kingsmore, Stephen, Newfield, Ron S.
Publicado 2019

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

por Hildreth, Amber, Wigby, Kristen, Chowdhury, Shimul, Nahas, Shareef, Barea, Jaime, Ordonez, Paulina, Batalov, Sergey, Dimmock, David, Kingsmore, Stephen
Publicado 2017

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

por Ng, Andrew, Galosi, Serena, Salz, Lisa, Wong, Terence, Schwager, Caitlin, Amudhavalli, Shivarajan, Gelineau-Morel, Rose, Chowdhury, Shimul, Friedman, Jennifer
Publicado 2020

Maternal Genome-Wide DNA Methylation Patterns and Congenital Heart Defects

por Chowdhury, Shimul, Erickson, Stephen W., MacLeod, Stewart L., Cleves, Mario A., Hu, Ping, Karim, Mohammad A., Hobbs, Charlotte A.
Publicado 2011

The case for early use of rapid whole-genome sequencing in management of critically ill infants: late diagnosis of Coffin–Siris syndrome in an infant with left congenital diaphragm...

por Sweeney, Nathaly M., Nahas, Shareef A., Chowdhury, Shimul, Campo, Miguel Del, Jones, Marilyn C., Dimmock, David P., Kingsmore, Stephen F.
Publicado 2018

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

por Owen, Mallory J., Lenberg, Jerica, Feigenbaum, Annette, Gold, Jeffrey, Chau, Kevin, Bezares-Orin, Zaira, Ding, Yan, Chowdhury, Shimul, Kingsmore, Stephen F.
Publicado 2021

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

por James, Kiely N., Clark, Michelle M., Camp, Brandon, Kint, Cyrielle, Schols, Peter, Batalov, Sergey, Briggs, Benjamin, Veeraraghavan, Narayanan, Chowdhury, Shimul, Kingsmore, Stephen F.
Publicado 2020

Mortality in a neonate with molybdenum cofactor deficiency illustrates the need for a comprehensive rapid precision medicine system

por Kingsmore, Stephen F., Ramchandar, Nanda, James, Kiely, Niemi, Anna-Kaisa, Feigenbaum, Annette, Ding, Yan, Benson, Wendy, Hobbs, Charlotte, Nahas, Shareef, Chowdhury, Shimul, Dimmock, David
Publicado 2020

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

por 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
Publicado 2021

Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease

por 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.
Publicado 2021

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

por 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.
Publicado 2021

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

por 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.
Publicado 2021

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

por 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.
Publicado 2018

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

por 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.
Publicado 2023

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

por 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.
Publicado 2020

Cost Efficacy of Rapid Whole Genome Sequencing in the Pediatric Intensive Care Unit

por Sanford Kobayashi, Erica, Waldman, Bryce, Engorn, Branden M., Perofsky, Katherine, Allred, Erika, Briggs, Benjamin, Gatcliffe, Chelsea, Ramchandar, Nanda, Gold, Jeffrey J., Doshi, Ami, Ingulli, Elizabeth G., Thornburg, Courtney D., Benson, Wendy, Farnaes, Lauge, Chowdhury, Shimul, Rego, Seema, Hobbs, Charlotte, Kingsmore, Stephen F., Dimmock, David P., Coufal, Nicole G.
Publicado 2022