Your account is not claimed yet. You can sign up with ORCID to claim your account.

Stephen F Kingsmore (Stephen Kingsmore)

ORCID

Publication Activity (10 Years)

Years Active: 2018-2023
Publications (10 Years): 20

Top Venues

NPJ genomic medicine

Nature communications

American journal of medical genetics. Part C, Seminars in medical genetics

Cold Spring Harbor molecular case studies

Rady Children's Institute for Genomic Medicine

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Rady Children's Institute for Genomic Medicine Sep 21o 2015

United States

President/CEO

Publications

Yan Ding, Mallory Owen, Jennie Le, Sergey Batalov, Kevin Chau, Yong Hyun Kwon, Lucita Van Der Kraan, Zaira Bezares-Orin, Zhanyang Zhu, Narayanan Veeraraghavan, Shareef Nahas, Matthew Bainbridge, Joe Gleeson, Rebecca J Baer, Gretchen Bandoli, Christina Chambers, Stephen F Kingsmore
Scalable, high quality, whole genome sequencing from archived, newborn, dried blood spots. NPJ genomic medicine 8 (1) (2023)
Konstantin Okonechnikov, Aylin Camgöz, Owen Chapman, Sameena Wani, Donglim Esther Park, Jens-Martin Hübner, Abhijit Chakraborty, Meghana Pagadala, Rosalind Bump, Sahaana Chandran, Katerina Kraft, Rocio Acuna-Hidalgo, Derek Reid, Kristin L Sikkink, Monika Mauermann, Edwin F Juarez, Anne Jenseit, James T Robinson, Kristian W Pajtler, Till Milde, Natalie Jäger, Petra Fiesel, Ling Morgan, Sunita Sridhar, Nicole G Coufal, Michael L Levy, Denise Malicki, Charlotte Hobbs, Stephen F Kingsmore, Shareef Nahas, Matija Snuderl, John Crawford, Robert J Wechsler-Reya, Tom Belle Davidson, Jennifer A Cotter, George Michaiel, Gudrun Fleischhack, Stefan Mundlos, Anthony Schmitt, Hannah Carter, Kulandaimanuvel Antony Michealraj, Sachin A Kumar, Michael D Taylor, Jeremy Rich, Frank Buchholz, Jill P Mesirov, Stefan M Pfister, Ferhat Ay, Jesse R Dixon, Marcel Kool, Lukas Chavez
3D genome mapping identifies subgroup-specific chromosome conformations and tumor-dependency genes in ependymoma. Nature communications 14 (1) (2023)
Timothy W Yu, Stephen F Kingsmore, Robert C Green, Tippi MacKenzie, Melissa Wasserstein, Michele Caggana, Nina B Gold, Annie Kennedy, Priya S Kishnani, Matthew Might, Phillip J Brooks, Jill A Morris, Melissa A Parisi, Tiina K Urv
Are we prepared to deliver gene-targeted therapies for rare diseases? American journal of medical genetics. Part C, Seminars in medical genetics (2023)
Konstantin Okonechnikov, Aylin Camgöz, Owen Chapman, Sameena Wani, Donglim Esther Park, Jens-Martin Hübner, Abhijit Chakraborty, Meghana Pagadala, Rosalind Bump, Sahaana Chandran, Katerina Kraft, Rocio Acuna-Hidalgo, Derek Reid, Kristin L Sikkink, Monika Mauermann, Edwin F Juarez, Anne Jenseit, James T Robinson, Kristian W Pajtler, Till Milde, Natalie Jäger, Petra Fiesel, Ling Morgan, Sunita Sridhar, Nicole G Coufal, Michael L Levy, Denise Malicki, Charlotte Hobbs, Stephen F Kingsmore, Shareef Nahas, Matija Snuderl, John Crawford, Robert J Wechsler-Reya, Tom Belle Davidson, Jennifer A Cotter, George Michaiel, Gudrun Fleischhack, Stefan Mundlos, Anthony Schmitt, Hannah Carter, Kulandaimanuvel Antony Michealraj, Sachin A Kumar, Michael D Taylor, Jeremy Rich, Frank Buchholz, Jill P Mesirov, Stefan M Pfister, Ferhat Ay, Jesse R Dixon, Marcel Kool, Lukas Chavez
3D genome mapping identifies subgroup-specific chromosome conformations and tumor-dependency genes in ependymoma. Nature communications 14 (1) (2023)
Konstantin Okonechnikov, Aylin Camgöz, Owen Chapman, Sameena Wani, Donglim Esther Park, Jens-Martin Hübner, Abhijit Chakraborty, Meghana Pagadala, Rosalind Bump, Sahaana Chandran, Katerina Kraft, Rocio Acuna-Hidalgo, Derek Reid, Kristin L Sikkink, Monika Mauermann, Edwin F Juarez, Anne Jenseit, James T Robinson, Kristian W Pajtler, Till Milde, Natalie Jäger, Petra Fiesel, Ling Morgan, Sunita Sridhar, Nicole G Coufal, Michael L Levy, Denise Malicki, Charlotte Hobbs, Stephen F Kingsmore, Shareef Nahas, Matija Snuderl, John Crawford, Robert J Wechsler-Reya, Tom Belle Davidson, Jennifer A Cotter, George Michaiel, Gudrun Fleischhack, Stefan Mundlos, Anthony Schmitt, Hannah Carter, Kulandaimanuvel Antony Michealraj, Sachin A Kumar, Michael D Taylor, Jeremy Rich, Frank Buchholz, Jill P Mesirov, Stefan M Pfister, Ferhat Ay, Jesse R Dixon, Marcel Kool, Lukas Chavez
3D genome mapping identifies subgroup-specific chromosome conformations and tumor-dependency genes in ependymoma. Nature communications 14 (1) (2023)
Konstantin Okonechnikov, Aylin Camgöz, Owen Chapman, Sameena Wani, Donglim Esther Park, Jens-Martin Hübner, Abhijit Chakraborty, Meghana Pagadala, Rosalind Bump, Sahaana Chandran, Katerina Kraft, Rocio Acuna-Hidalgo, Derek Reid, Kristin L Sikkink, Monika Mauermann, Edwin F Juarez, Anne Jenseit, James T Robinson, Kristian W Pajtler, Till Milde, Natalie Jäger, Petra Fiesel, Ling Morgan, Sunita Sridhar, Nicole G Coufal, Michael L Levy, Denise Malicki, Charlotte Hobbs, Stephen F Kingsmore, Shareef Nahas, Matija Snuderl, John Crawford, Robert J Wechsler-Reya, Tom Belle Davidson, Jennifer A Cotter, George Michaiel, Gudrun Fleischhack, Stefan Mundlos, Anthony Schmitt, Hannah Carter, Kulandaimanuvel Antony Michealraj, Sachin A Kumar, Michael D Taylor, Jeremy Rich, Frank Buchholz, Jill P Mesirov, Stefan M Pfister, Ferhat Ay, Jesse R Dixon, Marcel Kool, Lukas Chavez
3D genome mapping identifies subgroup-specific chromosome conformations and tumor-dependency genes in ependymoma. Nature communications 14 (1) (2023)
Yan Ding, Mallory Owen, Jennie Le, Sergey Batalov, Kevin Chau, Yong Hyun Kwon, Lucita Van Der Kraan, Zaira Bezares-Orin, Zhanyang Zhu, Narayanan Veeraraghavan, Shareef Nahas, Matthew Bainbridge, Joe Gleeson, Rebecca J Baer, Gretchen Bandoli, Christina Chambers, Stephen F Kingsmore
Scalable, high quality, whole genome sequencing from archived, newborn, dried blood spots. NPJ genomic medicine 8 (1) (2023)
Timothy W Yu, Stephen F Kingsmore, Robert C Green, Tippi MacKenzie, Melissa Wasserstein, Michele Caggana, Nina B Gold, Annie Kennedy, Priya S Kishnani, Matthew Might, Phillip J Brooks, Jill A Morris, Melissa A Parisi, Tiina K Urv
Are we prepared to deliver gene-targeted therapies for rare diseases? American journal of medical genetics. Part C, Seminars in medical genetics 193 (1) (2023)
Konstantin Okonechnikov, Aylin Camgöz, Owen Chapman, Sameena Wani, Donglim Esther Park, Jens-Martin Hübner, Abhijit Chakraborty, Meghana Pagadala, Rosalind Bump, Sahaana Chandran, Katerina Kraft, Rocio Acuna-Hidalgo, Derek Reid, Kristin L Sikkink, Monika Mauermann, Edwin F Juarez, Anne Jenseit, James T Robinson, Kristian W Pajtler, Till Milde, Natalie Jäger, Petra Fiesel, Ling Morgan, Sunita Sridhar, Nicole G Coufal, Michael L Levy, Denise Malicki, Charlotte Hobbs, Stephen F Kingsmore, Shareef Nahas, Matija Snuderl, John Crawford, Robert J Wechsler-Reya, Tom Belle Davidson, Jennifer A Cotter, George Michaiel, Gudrun Fleischhack, Stefan Mundlos, Anthony Schmitt, Hannah Carter, Kulandaimanuvel Antony Michealraj, Sachin A Kumar, Michael D Taylor, Jeremy Rich, Frank Buchholz, Jill P Mesirov, Stefan M Pfister, Ferhat Ay, Jesse R Dixon, Marcel Kool, Lukas Chavez
3D genome mapping identifies subgroup-specific chromosome conformations and tumor-dependency genes in ependymoma. Nature communications 14 (1) (2023)
Konstantin Okonechnikov, Aylin Camgöz, Owen Chapman, Sameena Wani, Donglim Esther Park, Jens-Martin Hübner, Abhijit Chakraborty, Meghana Pagadala, Rosalind Bump, Sahaana Chandran, Katerina Kraft, Rocio Acuna-Hidalgo, Derek Reid, Kristin L Sikkink, Monika Mauermann, Edwin F Juarez, Anne Jenseit, James T Robinson, Kristian W Pajtler, Till Milde, Natalie Jäger, Petra Fiesel, Ling Morgan, Sunita Sridhar, Nicole G Coufal, Michael L Levy, Denise Malicki, Charlotte Hobbs, Stephen F Kingsmore, Shareef Nahas, Matija Snuderl, John Crawford, Robert J Wechsler-Reya, Tom Belle Davidson, Jennifer A Cotter, George Michaiel, Gudrun Fleischhack, Stefan Mundlos, Anthony Schmitt, Hannah Carter, Kulandaimanuvel Antony Michealraj, Sachin A Kumar, Michael D Taylor, Jeremy Rich, Frank Buchholz, Jill P Mesirov, Stefan M Pfister, Ferhat Ay, Jesse R Dixon, Marcel Kool, Lukas Chavez
3D genome mapping identifies subgroup-specific chromosome conformations and tumor-dependency genes in ependymoma. Nature communications 14 (1) (2023)
Stephen F Kingsmore
2022: a pivotal year for diagnosis and treatment of rare genetic diseases. Cold Spring Harbor molecular case studies 8 (2) (2022)
Stephen F Kingsmore, null null
Dispatches from Biotech beginning BeginNGS: Rapid newborn genome sequencing to end the diagnostic and therapeutic odyssey. American journal of medical genetics. Part C, Seminars in medical genetics 190 (2) (2022)
Mallory J Owen, Sebastien Lefebvre, Christian Hansen, Chris M Kunard, David P Dimmock, 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, Bryan R Lajoie, Timothy K McPhail, Shyamal S Mehtalia, Kevin K Chau, Yong H Kwon, Zhanyang Zhu, Sergey Batalov, Shimul Chowdhury, Seema Rego, James Perry, Mark Speziale, Mark Nespeca, Meredith S Wright, Martin G Reese, Francisco M De La Vega, Joe Azure, Erwin Frise, Charlene Son Rigby, Sandy White, Charlotte A Hobbs, Sheldon Gilmer, Gail Knight, Albert Oriol, Jerica Lenberg, Shareef A Nahas, Kate Perofsky, Kyu Kim, Jeanne Carroll, Nicole G Coufal, Erica Sanford, Kristen Wigby, Jacqueline Weir, Vicki S Thomson, Louise Fraser, Seka S Lazare, Yoon H Shin, Haiying Grunenwald, Richard Lee, David Jones, Duke Tran, Andrew Gross, Patrick Daigle, Anne Case, Marisa Lue, James A Richardson, John Reynders, Thomas Defay, Kevin P Hall, Narayanan Veeraraghavan, Stephen F Kingsmore
An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases. Nature communications 13 (1) (2022)
Nathaly M Sweeney, Shareef A Nahas, Shimul Chowdhury, Sergey Batalov, Michelle M Clark, Sara Caylor, Julie A Cakici, John J Nigro, Yan Ding, Narayanan Veeraraghavan, Charlotte Hobbs, David P Dimmock, Stephen F Kingsmore
Author Correction: Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease. NPJ genomic medicine 6 (1) (2021)
Nathaly M Sweeney, Shareef A Nahas, Shimul Chowdhury, Sergey Batalov, Michelle M Clark, Sara Caylor, Julie A Cakici, John J Nigro, Yan Ding, Narayanan Veeraraghavan, Charlotte Hobbs, David P Dimmock, Stephen F Kingsmore
Publisher Correction: Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease. NPJ genomic medicine 6 (1) (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, Zhanyang Zhu, Shareef A Nahas, Sheldon Gilmer, Gail Knight, Sebastien Lefebvre, John Reynders, Thomas Defay, Jacqueline Weir, Vicki S Thomson, Louise Fraser, Bryan R Lajoie, Tim K McPhail, Shyamal S Mehtalia, Chris M Kunard, Kevin P Hall, Stephen F Kingsmore
Rapid Sequencing-Based Diagnosis of Thiamine Metabolism Dysfunction Syndrome. The New England journal of medicine 384 (22) (2021)
Nathaly M Sweeney, Shareef A Nahas, Shimul Chowdhury, Sergey Batalov, Michelle M Clark, Sara Caylor, Julie A Cakici, John J Nigro, Yan Ding, Narayanan Veeraraghavan, Charlotte Hobbs, David P Dimmock, Stephen F Kingsmore
Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease. NPJ genomic medicine 6 (1) (2021)
Stephen F Kingsmore, Audrey Henderson, Mallory J Owen, Michelle M Clark, Christian Hansen, David P Dimmock, Christina D Chambers, Laura L Jeliffe-Pawlowski, Charlotte Hobbs
Measurement of genetic diseases as a cause of mortality in infants receiving whole genome sequencing. NPJ genomic medicine 5 (2020)
Stephen F Kingsmore, Audrey Henderson, Mallory J Owen, Michelle M Clark, Christian Hansen, David P Dimmock, Christina D Chambers, Laura L Jeliffe-Pawlowski, Charlotte Hobbs
Measurement of genetic diseases as a cause of mortality in infants receiving whole genome sequencing. NPJ genomic medicine 5 (1) (2020)
Nathaly M Sweeney, Shareef A Nahas, Shimul Chowdhury, Miguel Del Campo, Marilyn C Jones, David P Dimmock, Stephen F Kingsmore, null null
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 diaphragmatic hernia, congenital heart disease, and recurrent infections. Cold Spring Harbor molecular case studies 4 (3) (2018)

Stephen F Kingsmore.css-eqlu8i{font-size:small;padding-left:4px;} (Stephen Kingsmore)

Publication Activity (10 Years)

Top Topics

Top Venues

Stephen F Kingsmore (Stephen Kingsmore)