Bruce D Gelb (Bruce Gelb)

ORCID

Publication Activity (10 Years)

Years Active: 2016-2024
Publications (10 Years): 84

Top Venues

Circulation. Genomic and precision medicine

Nature communications

Journal of the American Heart Association

American journal of medical genetics. Part A

Icahn School of Medicine at Mount Sinai

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

Affiliation History

Icahn School of Medicine at Mount Sinai Jul 01 1991

United States

Director :: Mindich Child Health and Development Institute

Publications

Jake Gluckman, Tess Levy, Kate Friedman, Francesca Garces, Rajna Filip-Dhima, Aisling Quinlan, Isabelle Iannotti, Margaret Pekar, Alexandra Lopez Hernandez, Madison T Nava, Elijah Kravets, Abigail Siegel, Jonathan A Bernstein, Elizabeth Berry-Kravis, Craig M Powell, Latha Valluripalli Soorya, Audrey Thurm, Siddharth Srivastava, Joseph D Buxbaum, Mustafa Sahin, Alexander Kolevzon, Bruce D Gelb, null null
Aortic Root Dilation and Genotype Associations in Phelan-McDermid Syndrome. American journal of medical genetics. Part A (2024)
Feng Xiao, Xiaoran Zhang, Sarah U Morton, Seong Won Kim, Youfei Fan, Joshua M Gorham, Huan Zhang, Paul J Berkson, Neil Mazumdar, Yangpo Cao, Jian Chen, Jacob Hagen, Xujie Liu, Pingzhu Zhou, Felix Richter, Yufeng Shen, Tarsha Ward, Bruce D Gelb, Jonathan G Seidman, Christine E Seidman, William T Pu
Functional dissection of human cardiac enhancers and noncoding de novo variants in congenital heart disease. Nature genetics 56 (3) (2024)
Feng Xiao, Xiaoran Zhang, Sarah U Morton, Seong Won Kim, Youfei Fan, Joshua M Gorham, Huan Zhang, Paul J Berkson, Neil Mazumdar, Yangpo Cao, Jian Chen, Jacob Hagen, Xujie Liu, Pingzhu Zhou, Felix Richter, Yufeng Shen, Tarsha Ward, Bruce D Gelb, Jonathan G Seidman, Christine E Seidman, William T Pu
Functional dissection of human cardiac enhancers and noncoding de novo variants in congenital heart disease. Nature genetics 56 (3) (2024)
Rebecca Keener, Surya B Chhetri, Carla J Connelly, Margaret A Taub, Matthew P Conomos, Joshua S Weinstock, Bohan Ni, Benjamin J Strober, Stella Aslibekyan, Paul L Auer, Lucas Barwick, Lewis C Becker, John E Blangero, Eugene R Bleecker, Jennifer A Brody, Brian E Cade, Juan C Celedón, Yi-Cheng Chang, L Adrienne Cupples, Brian S Custer, Barry I Freedman, Mark T Gladwin, Susan R Heckbert, Lifang Hou, Marguerite R Irvin, Carmen R Isasi, Jill M Johnsen, Eimear E Kenny, Charles Kooperberg, Ryan L Minster, Take Naseri, Satupa'itea Viali, Sergei Nekhai, Nathan D Pankratz, Patricia A Peyser, Kent D Taylor, Marilyn J Telen, Baojun Wu, Lisa R Yanek, Ivana V Yang, Christine Albert, Donna K Arnett, Allison Elizabeth Ashley-Koch, Kathleen C Barnes, Joshua C Bis, Thomas W Blackwell, Eric Boerwinkle, Esteban González Burchard, April P Carson, Zhanghua Chen, Yii-Der Ida Chen, Dawood Darbar, Mariza de Andrade, Patrick T Ellinor, Myriam Fornage, Bruce D Gelb, Frank D Gilliland, Jiang He, Talat Islam, Stefan Kääb, Sharon L R Kardia, Shannon Kelly, Barbara A Konkle, Rajesh Kumar, Ruth J F Loos, Fernando D Martinez, Stephen T McGarvey, Deborah A Meyers, Braxton D Mitchell, Courtney G Montgomery, Kari E North, Nicholette D D Allred, Juan M Peralta, Benjamin A Raby, Susan Redline, Stephen S Rich, Dan M Roden, Jerome I Rotter, Ingo Ruczinski, David Schwartz, Frank Sciurba, M Benjamin Shoemaker, Edwin K Silverman, Moritz F Sinner, Nicholas L Smith, Albert Vernon Smith, Hemant K Tiwari, Ramachandran S Vasan, Scott T Weiss, L Keoki Williams, Yingze Zhang, Elad Ziv, Laura M Raffield, Alexander P Reiner, null null, null null, null null, Marios Arvanitis, Carol W Greider, Rasika A Mathias, Alexis J Battle
Validation of human telomere length multi-ancestry meta-analysis association signals identifies POP5 and KBTBD6 as human telomere length regulation genes. Nature communications 15 (1) (2024)
Michael D Linderman, Jacob Wallace, Alderik van der Heyde, Eliza Wieman, Daniel Brey, Yiran Shi, Peter Hansen, Zahra Shamsi, Jeremiah Z Liu, Bruce D Gelb, Ali Bashir
NPSV-deep: a deep learning method for genotyping structural variants in short read genome sequencing data. Bioinformatics (Oxford, England) 40 (3) (2024)
Feng Xiao, Xiaoran Zhang, Sarah U Morton, Seong Won Kim, Youfei Fan, Joshua M Gorham, Huan Zhang, Paul J Berkson, Neil Mazumdar, Yangpo Cao, Jian Chen, Jacob Hagen, Xujie Liu, Pingzhu Zhou, Felix Richter, Yufeng Shen, Tarsha Ward, Bruce D Gelb, Jonathan G Seidman, Christine E Seidman, William T Pu
Functional dissection of human cardiac enhancers and noncoding de novo variants in congenital heart disease. Nature genetics 56 (3) (2024)
Rebecca Keener, Surya B Chhetri, Carla J Connelly, Margaret A Taub, Matthew P Conomos, Joshua S Weinstock, Bohan Ni, Benjamin J Strober, Stella Aslibekyan, Paul L Auer, Lucas Barwick, Lewis C Becker, John E Blangero, Eugene R Bleecker, Jennifer A Brody, Brian E Cade, Juan C Celedón, Yi-Cheng Chang, L Adrienne Cupples, Brian S Custer, Barry I Freedman, Mark T Gladwin, Susan R Heckbert, Lifang Hou, Marguerite R Irvin, Carmen R Isasi, Jill M Johnsen, Eimear E Kenny, Charles Kooperberg, Ryan L Minster, Take Naseri, Satupa'itea Viali, Sergei Nekhai, Nathan D Pankratz, Patricia A Peyser, Kent D Taylor, Marilyn J Telen, Baojun Wu, Lisa R Yanek, Ivana V Yang, Christine Albert, Donna K Arnett, Allison Elizabeth Ashley-Koch, Kathleen C Barnes, Joshua C Bis, Thomas W Blackwell, Eric Boerwinkle, Esteban González Burchard, April P Carson, Zhanghua Chen, Yii-Der Ida Chen, Dawood Darbar, Mariza de Andrade, Patrick T Ellinor, Myriam Fornage, Bruce D Gelb, Frank D Gilliland, Jiang He, Talat Islam, Stefan Kääb, Sharon L R Kardia, Shannon Kelly, Barbara A Konkle, Rajesh Kumar, Ruth J F Loos, Fernando D Martinez, Stephen T McGarvey, Deborah A Meyers, Braxton D Mitchell, Courtney G Montgomery, Kari E North, Nicholette D D Allred, Juan M Peralta, Benjamin A Raby, Susan Redline, Stephen S Rich, Dan M Roden, Jerome I Rotter, Ingo Ruczinski, David Schwartz, Frank Sciurba, M Benjamin Shoemaker, Edwin K Silverman, Moritz F Sinner, Nicholas L Smith, Albert Vernon Smith, Hemant K Tiwari, Ramachandran S Vasan, Scott T Weiss, L Keoki Williams, Yingze Zhang, Elad Ziv, Laura M Raffield, Alexander P Reiner, null null, null null, null null, Marios Arvanitis, Carol W Greider, Rasika A Mathias, Alexis J Battle
Validation of human telomere length multi-ancestry meta-analysis association signals identifies POP5 and KBTBD6 as human telomere length regulation genes. Nature communications 15 (1) (2024)
Michael D Linderman, Jacob Wallace, Alderik van der Heyde, Eliza Wieman, Daniel Brey, Yiran Shi, Peter Hansen, Zahra Shamsi, Jeremiah Z Liu, Bruce D Gelb, Ali Bashir
NPSV-deep: a deep learning method for genotyping structural variants in short read genome sequencing data. Bioinformatics (Oxford, England) 40 (3) (2024)
Rebecca Keener, Surya B Chhetri, Carla J Connelly, Margaret A Taub, Matthew P Conomos, Joshua S Weinstock, Bohan Ni, Benjamin J Strober, Stella Aslibekyan, Paul L Auer, Lucas Barwick, Lewis C Becker, John E Blangero, Eugene R Bleecker, Jennifer A Brody, Brian E Cade, Juan C Celedón, Yi-Cheng Chang, L Adrienne Cupples, Brian S Custer, Barry I Freedman, Mark T Gladwin, Susan R Heckbert, Lifang Hou, Marguerite R Irvin, Carmen R Isasi, Jill M Johnsen, Eimear E Kenny, Charles Kooperberg, Ryan L Minster, Take Naseri, Satupa'itea Viali, Sergei Nekhai, Nathan D Pankratz, Patricia A Peyser, Kent D Taylor, Marilyn J Telen, Baojun Wu, Lisa R Yanek, Ivana V Yang, Christine Albert, Donna K Arnett, Allison Elizabeth Ashley-Koch, Kathleen C Barnes, Joshua C Bis, Thomas W Blackwell, Eric Boerwinkle, Esteban González Burchard, April P Carson, Zhanghua Chen, Yii-Der Ida Chen, Dawood Darbar, Mariza de Andrade, Patrick T Ellinor, Myriam Fornage, Bruce D Gelb, Frank D Gilliland, Jiang He, Talat Islam, Stefan Kääb, Sharon L R Kardia, Shannon Kelly, Barbara A Konkle, Rajesh Kumar, Ruth J F Loos, Fernando D Martinez, Stephen T McGarvey, Deborah A Meyers, Braxton D Mitchell, Courtney G Montgomery, Kari E North, Nicholette D D Allred, Juan M Peralta, Benjamin A Raby, Susan Redline, Stephen S Rich, Dan M Roden, Jerome I Rotter, Ingo Ruczinski, David Schwartz, Frank Sciurba, M Benjamin Shoemaker, Edwin K Silverman, Moritz F Sinner, Nicholas L Smith, Albert Vernon Smith, Hemant K Tiwari, Ramachandran S Vasan, Scott T Weiss, L Keoki Williams, Yingze Zhang, Elad Ziv, Laura M Raffield, Alexander P Reiner, null null, null null, null null, Marios Arvanitis, Carol W Greider, Rasika A Mathias, Alexis J Battle
Validation of human telomere length multi-ancestry meta-analysis association signals identifies POP5 and KBTBD6 as human telomere length regulation genes. Nature communications 15 (1) (2024)
Feng Xiao, Xiaoran Zhang, Sarah U Morton, Seong Won Kim, Youfei Fan, Joshua M Gorham, Huan Zhang, Paul J Berkson, Neil Mazumdar, Yangpo Cao, Jian Chen, Jacob Hagen, Xujie Liu, Pingzhu Zhou, Felix Richter, Yufeng Shen, Tarsha Ward, Bruce D Gelb, Jonathan G Seidman, Christine E Seidman, William T Pu
Functional dissection of human cardiac enhancers and noncoding de novo variants in congenital heart disease. Nature genetics 56 (3) (2024)
Rebecca Keener, Surya B Chhetri, Carla J Connelly, Margaret A Taub, Matthew P Conomos, Joshua S Weinstock, Bohan Ni, Benjamin J Strober, Stella Aslibekyan, Paul L Auer, Lucas Barwick, Lewis C Becker, John E Blangero, Eugene R Bleecker, Jennifer A Brody, Brian E Cade, Juan C Celedón, Yi-Cheng Chang, L Adrienne Cupples, Brian S Custer, Barry I Freedman, Mark T Gladwin, Susan R Heckbert, Lifang Hou, Marguerite R Irvin, Carmen R Isasi, Jill M Johnsen, Eimear E Kenny, Charles Kooperberg, Ryan L Minster, Take Naseri, Satupa'itea Viali, Sergei Nekhai, Nathan D Pankratz, Patricia A Peyser, Kent D Taylor, Marilyn J Telen, Baojun Wu, Lisa R Yanek, Ivana V Yang, Christine Albert, Donna K Arnett, Allison Elizabeth Ashley-Koch, Kathleen C Barnes, Joshua C Bis, Thomas W Blackwell, Eric Boerwinkle, Esteban González Burchard, April P Carson, Zhanghua Chen, Yii-Der Ida Chen, Dawood Darbar, Mariza de Andrade, Patrick T Ellinor, Myriam Fornage, Bruce D Gelb, Frank D Gilliland, Jiang He, Talat Islam, Stefan Kääb, Sharon L R Kardia, Shannon Kelly, Barbara A Konkle, Rajesh Kumar, Ruth J F Loos, Fernando D Martinez, Stephen T McGarvey, Deborah A Meyers, Braxton D Mitchell, Courtney G Montgomery, Kari E North, Nicholette D D Allred, Juan M Peralta, Benjamin A Raby, Susan Redline, Stephen S Rich, Dan M Roden, Jerome I Rotter, Ingo Ruczinski, David Schwartz, Frank Sciurba, M Benjamin Shoemaker, Edwin K Silverman, Moritz F Sinner, Nicholas L Smith, Albert Vernon Smith, Hemant K Tiwari, Ramachandran S Vasan, Scott T Weiss, L Keoki Williams, Yingze Zhang, Elad Ziv, Laura M Raffield, Alexander P Reiner, null null, null null, null null, Marios Arvanitis, Carol W Greider, Rasika A Mathias, Alexis J Battle
Validation of human telomere length multi-ancestry meta-analysis association signals identifies POP5 and KBTBD6 as human telomere length regulation genes. Nature communications 15 (1) (2024)
Elizabeth R Feldman, Yunqi Li, David J Cutler, Tracie C Rosser, Stephanie B Wechsler, Lauren Sanclemente, Angela L Rachubinski, Natalina Elliott, Paresh Vyas, Irene Roberts, Karen R Rabin, Michael Wagner, Bruce D Gelb, Joaquín Maximiliano Espinosa, Philip J Lupo, Adam J de Smith, Stephanie L Sherman, Elizabeth J Leslie
Genome-wide association studies of Down syndrome associated congenital heart defects. medRxiv : the preprint server for health sciences (2024)
Feng Xiao, Xiaoran Zhang, Sarah U Morton, Seong Won Kim, Youfei Fan, Joshua M Gorham, Huan Zhang, Paul J Berkson, Neil Mazumdar, Yangpo Cao, Jian Chen, Jacob Hagen, Xujie Liu, Pingzhu Zhou, Felix Richter, Yufeng Shen, Tarsha Ward, Bruce D Gelb, Jonathan G Seidman, Christine E Seidman, William T Pu
Functional dissection of human cardiac enhancers and noncoding de novo variants in congenital heart disease. Nature genetics (2024)
Rebecca Keener, Surya B Chhetri, Carla J Connelly, Margaret A Taub, Matthew P Conomos, Joshua S Weinstock, Bohan Ni, Benjamin J Strober, Stella Aslibekyan, Paul L Auer, Lucas Barwick, Lewis C Becker, John E Blangero, Eugene R Bleecker, Jennifer A Brody, Brian E Cade, Juan C Celedón, Yi-Cheng Chang, L Adrienne Cupples, Brian S Custer, Barry I Freedman, Mark T Gladwin, Susan R Heckbert, Lifang Hou, Marguerite R Irvin, Carmen R Isasi, Jill M Johnsen, Eimear E Kenny, Charles Kooperberg, Ryan L Minster, Take Naseri, Satupa'itea Viali, Sergei Nekhai, Nathan D Pankratz, Patricia A Peyser, Kent D Taylor, Marilyn J Telen, Baojun Wu, Lisa R Yanek, Ivana V Yang, Christine Albert, Donna K Arnett, Allison Elizabeth Ashley-Koch, Kathleen C Barnes, Joshua C Bis, Thomas W Blackwell, Eric Boerwinkle, Esteban González Burchard, April P Carson, Zhanghua Chen, Yii-Der Ida Chen, Dawood Darbar, Mariza de Andrade, Patrick T Ellinor, Myriam Fornage, Bruce D Gelb, Frank D Gilliland, Jiang He, Talat Islam, Stefan Kääb, Sharon L R Kardia, Shannon Kelly, Barbara A Konkle, Rajesh Kumar, Ruth J F Loos, Fernando D Martinez, Stephen T McGarvey, Deborah A Meyers, Braxton D Mitchell, Courtney G Montgomery, Kari E North, Nicholette D D Allred, Juan M Peralta, Benjamin A Raby, Susan Redline, Stephen S Rich, Dan M Roden, Jerome I Rotter, Ingo Ruczinski, David Schwartz, Frank Sciurba, M Benjamin Shoemaker, Edwin K Silverman, Moritz F Sinner, Nicholas L Smith, Albert Vernon Smith, Hemant K Tiwari, Ramachandran S Vasan, Scott T Weiss, L Keoki Williams, Yingze Zhang, Elad Ziv, Laura M Raffield, Alexander P Reiner, null null, null null, null null, Marios Arvanitis, Carol W Greider, Rasika A Mathias, Alexis J Battle
Validation of human telomere length multi-ancestry meta-analysis association signals identifies POP5 and KBTBD6 as human telomere length regulation genes. Nature communications 15 (1) (2024)
Rebecca Keener, Surya B Chhetri, Carla J Connelly, Margaret A Taub, Matthew P Conomos, Joshua S Weinstock, Bohan Ni, Benjamin J Strober, Stella Aslibekyan, Paul L Auer, Lucas Barwick, Lewis C Becker, John E Blangero, Eugene R Bleecker, Jennifer A Brody, Brian E Cade, Juan C Celedón, Yi-Cheng Chang, L Adrienne Cupples, Brian S Custer, Barry I Freedman, Mark T Gladwin, Susan R Heckbert, Lifang Hou, Marguerite R Irvin, Carmen R Isasi, Jill M Johnsen, Eimear E Kenny, Charles Kooperberg, Ryan L Minster, Take Naseri, Satupa'itea Viali, Sergei Nekhai, Nathan D Pankratz, Patricia A Peyser, Kent D Taylor, Marilyn J Telen, Baojun Wu, Lisa R Yanek, Ivana V Yang, Christine Albert, Donna K Arnett, Allison Elizabeth Ashley-Koch, Kathleen C Barnes, Joshua C Bis, Thomas W Blackwell, Eric Boerwinkle, Esteban González Burchard, April P Carson, Zhanghua Chen, Yii-Der Ida Chen, Dawood Darbar, Mariza de Andrade, Patrick T Ellinor, Myriam Fornage, Bruce D Gelb, Frank D Gilliland, Jiang He, Talat Islam, Stefan Kääb, Sharon L R Kardia, Shannon Kelly, Barbara A Konkle, Rajesh Kumar, Ruth J F Loos, Fernando D Martinez, Stephen T McGarvey, Deborah A Meyers, Braxton D Mitchell, Courtney G Montgomery, Kari E North, Nicholette D D Allred, Juan M Peralta, Benjamin A Raby, Susan Redline, Stephen S Rich, Dan M Roden, Jerome I Rotter, Ingo Ruczinski, David Schwartz, Frank Sciurba, M Benjamin Shoemaker, Edwin K Silverman, Moritz F Sinner, Nicholas L Smith, Albert Vernon Smith, Hemant K Tiwari, Ramachandran S Vasan, Scott T Weiss, L Keoki Williams, Yingze Zhang, Elad Ziv, Laura M Raffield, Alexander P Reiner, null null, null null, null null, Marios Arvanitis, Carol W Greider, Rasika A Mathias, Alexis J Battle
Validation of human telomere length multi-ancestry meta-analysis association signals identifies POP5 and KBTBD6 as human telomere length regulation genes. Nature communications 15 (1) (2024)
Goo Jun, Adam English, Ginger Metcalf, Jianzhi Yang, Mark J P Chaisson, Nathan D Pankratz, Vipin K Menon, William Salerno, Olga Krasheninina, Albert Vernon Smith, John Lane, Thomas Blackwell, Hyun Min Kang, Sejal Salvi, Qingchang Meng, Hua Shen, Divya Pasham, Sravya Bhamidipati, Kavya Kottapalli, Donna K Arnett, Allison Elizabeth Ashley-Koch, Paul L Auer, KAthleen Beutel, Joshua C Bis, John E Blangero, Donald Bowden, Jennifer A Brody, Brian E Cade, Yii-Der Ida Chen, Michael Cho, Joanne E Curran, Myriam Fornage, Barry Frredman, Tasha Fingerlin, Bruce D Gelb, Lifang Hou, Yi-Jen Hung, John P Kane, Robert Kaplan, Wonji Kim, Ruth J F Loos, Gregory M Marcus, Rasika A Mathias, Stephen T McGarvey, Courtney Montgomery, Take Naseri, Seyed Nouraie, Michael H Preuss, Nicholette D D Allred, Patricia A Peyser, Laura Raffield, Aakrosh Ratan, Susan Redline, Muagututia Reupena, Jerome Rotter, Stephen S Rich, Michiel Rienstra, Ingo Ruczinski, Vijay G Sankaran, David A Schwartz, Christine E Seidman, Jonathan G Seidman, Edwin Silverman, Jennifer A Smith, Adrienne M Stilp, Kent Taylor, Marilyn Telen, Scott Weiss, L Keoki Williams, Baojun Wu, Lisa R Yanek, Yingze Zhang, Jessica Lasky-Su, Marie-Claude Gingras, Susan K Dutcher, Evan Eichler, Stacey Gabriel, Soren Germer, Ryan Kim, Karine Martinez, Deborah Nickerson, James Luo, Alexander P Reiner, Richard Gibbs, Eric Boerwinkle, Goncaol Abecasis, Fritz J Sedlazeck
Structural variation across 138,134 samples in the TOPMed consortium. Research square (2023)
Son Q Duong, Akhil Vaid, Ha My Thi Vy, Liam R Butler, Joshua Lampert, Robert H Pass, Alexander W Charney, Jagat Narula, Rohan Khera, Ankit Sakhuja, Hayit Greenspan, Bruce D Gelb, Ron Do, Girish Nitin Nadkarni
Quantitative Prediction of Right Ventricular Size and Function From the ECG. Journal of the American Heart Association 13 (1) (2023)
Son Q Duong, Akhil Vaid, Ha My Thi Vy, Liam R Butler, Joshua Lampert, Robert H Pass, Alexander W Charney, Jagat Narula, Rohan Khera, Hayit Greenspan, Bruce D Gelb, Ron Do, Girish Nitin Nadkarni
Quantitative prediction of right ventricular and size and function from the electrocardiogram. medRxiv : the preprint server for health sciences (2023)
Goo Jun, Adam C English, Ginger A Metcalf, Jianzhi Yang, Mark J P Chaisson, Nathan Pankratz, Vipin K Menon, William J Salerno, Olga Krasheninina, Albert Vernon Smith, John A Lane, Tom Blackwell, Hyun-Min Kang, Sejal Salvi, Qingchang Meng, Hua Shen, Divya Pasham, Sravya Bhamidipati, Kavya Kottapalli, Donna K Arnett, Allison Elizabeth Ashley-Koch, Paul L Auer, Kathleen M Beutel, Joshua C Bis, John E Blangero, Donald W Bowden, Jennifer A Brody, Brian E Cade, Yii-Der Ida Chen, Michael H Cho, Joanne E Curran, Myriam Fornage, Barry I Freedman, Tasha Fingerlin, Bruce D Gelb, Lifang Hou, Yi-Jen Hung, John P Kane, Robert C Kaplan, Wonji Kim, Ruth J F Loos, Gregory M Marcus, Rasika A Mathias, Stephen T McGarvey, Courtney G Montgomery, Take Naseri, S Mehdi Nouraie, Michael H Preuss, Nicholette D D Allred, Patricia A Peyser, Laura M Raffield, Aakrosh Ratan, Susan Redline, Sefuiva Reupena, Jerome I Rotter, Stephen S Rich, Michiel Rienstra, Ingo Ruczinski, Vijay G Sankaran, David A Schwartz, Christine E Seidman, Jonathan G Seidman, Edwin K Silverman, Jennifer A Smith, Adrienne M Stilp, Kent D Taylor, Marilyn J Telen, Scott T Weiss, L Keoki Williams, Baojun Wu, Lisa R Yanek, Yingze Zhang, Jessica A Lasky-Su, Marie Claude Gingras, Susan K Dutcher, Evan E Eichler, Stacey Gabriel, Soren Germer, Ryan Kim, Karine A Viaud-Martinez, Deborah A Nickerson, null null, James Luo, Alexander P Reiner, Richard A Gibbs, Eric Boerwinkle, Goncalo Abecasis, Fritz J Sedlazeck
Structural variation across 138,134 samples in the TOPMed consortium. bioRxiv : the preprint server for biology (2023)
Son Q Duong, Akhil Vaid, Ha My Thi Vy, Liam R Butler, Joshua Lampert, Robert H Pass, Alexander W Charney, Jagat Narula, Rohan Khera, Ankit Sakhuja, Hayit Greenspan, Bruce D Gelb, Ron Do, Girish Nitin Nadkarni
Quantitative Prediction of Right Ventricular Size and Function From the ECG. Journal of the American Heart Association 13 (1) (2023)
Daniel Greene, null null, Daniela Pirri, Karen Frudd, Ege Sackey, Mohammed Al-Owain, Arnaud P J Giese, Khushnooda Ramzan, Sehar Riaz, Itaru Yamanaka, Nele Boeckx, Chantal Thys, Bruce D Gelb, Paul Brennan, Verity Hartill, Julie Harvengt, Tomoki Kosho, Sahar Mansour, Mitsuo Masuno, Takako Ohata, Helen Stewart, Khalid Taibah, Claire L S Turner, Faiqa Imtiaz, Saima Riazuddin, Takayuki Morisaki, Pia Ostergaard, Bart L Loeys, Hiroko Morisaki, Zubair M Ahmed, Graeme M Birdsey, Kathleen Freson, Andrew Mumford, Ernest Turro
Genetic association analysis of 77,539 genomes reveals rare disease etiologies. Nature medicine 29 (3) (2023)
Son Q Duong, Akhil Vaid, Ha My Thi Vy, Liam R Butler, Joshua Lampert, Robert H Pass, Alexander W Charney, Jagat Narula, Rohan Khera, Ankit Sakhuja, Hayit Greenspan, Bruce D Gelb, Ron Do, Girish Nitin Nadkarni
Quantitative Prediction of Right Ventricular Size and Function From the ECG. Journal of the American Heart Association 13 (1) (2023)
Daniel Greene, null null, Daniela Pirri, Karen Frudd, Ege Sackey, Mohammed Al-Owain, Arnaud P J Giese, Khushnooda Ramzan, Sehar Riaz, Itaru Yamanaka, Nele Boeckx, Chantal Thys, Bruce D Gelb, Paul Brennan, Verity Hartill, Julie Harvengt, Tomoki Kosho, Sahar Mansour, Mitsuo Masuno, Takako Ohata, Helen Stewart, Khalid Taibah, Claire L S Turner, Faiqa Imtiaz, Saima Riazuddin, Takayuki Morisaki, Pia Ostergaard, Bart L Loeys, Hiroko Morisaki, Zubair M Ahmed, Graeme M Birdsey, Kathleen Freson, Andrew Mumford, Ernest Turro
Genetic association analysis of 77,539 genomes reveals rare disease etiologies. Nature medicine (2023)
Daniel Greene, null null, Daniela Pirri, Karen Frudd, Ege Sackey, Mohammed Al-Owain, Arnaud P J Giese, Khushnooda Ramzan, Sehar Riaz, Itaru Yamanaka, Nele Boeckx, Chantal Thys, Bruce D Gelb, Paul Brennan, Verity Hartill, Julie Harvengt, Tomoki Kosho, Sahar Mansour, Mitsuo Masuno, Takako Ohata, Helen Stewart, Khalid Taibah, Claire L S Turner, Faiqa Imtiaz, Saima Riazuddin, Takayuki Morisaki, Pia Ostergaard, Bart L Loeys, Hiroko Morisaki, Zubair M Ahmed, Graeme M Birdsey, Kathleen Freson, Andrew Mumford, Ernest Turro
Genetic association analysis of 77,539 genomes reveals rare disease etiologies. Nature medicine 29 (3) (2023)
Emanuele Monda, Aaron R Prosnitz, Rossella Aiello, Michele Lioncino, Gabrielle Norrish, Martina Caiazza, Fabrizio Drago, Meaghan J Beattie, Tartaglia Marco, Maria Giovanna Russo, Steven D Colan, Giulio Calcagni, Bruce D Gelb, Juan Pablo Pablo Kaski, Amy E Roberts, Giuseppe Limongelli
Natural History of Hypertrophic Cardiomyopathy in Noonan Syndrome With Multiple Lentigines. Circulation. Genomic and precision medicine (2023)
Elizabeth I Pierpont, Anton M Bennett, Lisa Schoyer, Beth Stronach, April Anschutz, Sarah C Borrie, Benjamin Briggs, Emma Burkitt-Wright, Pau Castel, Ion C Cirstea, Fieke Draaisma, Michelle Ellis, Vanessa S Fear, Megan N Frone, Elisabetta Flex, Bruce D Gelb, Tamar Green, Karen W Gripp, Sattar Khoshkhoo, Mark W Kieran, Karolin Kleemann, Bonita P Klein-Tasman, Maria I Kontaridis, Paul S Kruszka, Chiara Leoni, Clifford Z Liu, Nadia Merchant, Pilar L Magoulas, Christopher Moertel, Carlos E Prada, Katherine A Rauen, Renée Roelofs, Rodrigue Rossignol, Christine Sevilla, Gigi Sevilla, Ryan Sheedy, Elliot Stieglitz, Daochun Sun, Dagmar Tiemens, Forest White, Ellen Wingbermühle, Cordula Wolf, Martin Zenker, Gregor Andelfinger
The 8th International RASopathies Symposium: Expanding research and care practice through global collaboration and advocacy. American journal of medical genetics. Part A (2023)
Son Q Duong, Akhil Vaid, Ha My Thi Vy, Liam R Butler, Joshua Lampert, Robert H Pass, Alexander W Charney, Jagat Narula, Rohan Khera, Hayit Greenspan, Bruce D Gelb, Ron Do, Girish Nitin Nadkarni
Quantitative prediction of right ventricular and size and function from the electrocardiogram. medRxiv : the preprint server for health sciences (2023)
Son Q Duong, Akhil Vaid, Ha My Thi Vy, Liam R Butler, Joshua Lampert, Robert H Pass, Alexander W Charney, Jagat Narula, Rohan Khera, Ankit Sakhuja, Hayit Greenspan, Bruce D Gelb, Ron Do, Girish Nitin Nadkarni
Quantitative Prediction of Right Ventricular Size and Function From the ECG. Journal of the American Heart Association 13 (1) (2023)
Son Q Duong, Akhil Vaid, Ha My Thi Vy, Liam R Butler, Joshua Lampert, Robert H Pass, Alexander W Charney, Jagat Narula, Rohan Khera, Ankit Sakhuja, Hayit Greenspan, Bruce D Gelb, Ron Do, Girish Nitin Nadkarni
Quantitative Prediction of Right Ventricular Size and Function From the ECG. Journal of the American Heart Association 13 (1) (2023)
Emily L Griffin, Shannon N Nees, Sarah U Morton, Julia Wynn, Nihir Patel, Vaidehi Jobanputra, Scott Robinson, Stephanie M Kochav, Alice Tao, Carli Andrews, Nancy Cross, Judith Geva, Kristen Lanzilotta, Alyssa L Ritter, Eileen Taillie, Alexandra Thompson, Chris Meyer, Rachel Akers, Eileen C King, James F Cnota, Richard W Kim, George A Porter, Martina Brueckner, Christine E Seidman, Yufeng Shen, Bruce D Gelb, Elizabeth Goldmuntz, Jane W Newburger, Amy E Roberts, Wendy K Chung
Evidence-Based Assessment of Congenital Heart Disease Genes to Enable Returning Results in a Genomic Study. Circulation. Genomic and precision medicine (2023)
Madeline M Lui, Mariya Shadrina, Bruce D Gelb, Amy R Kontorovich
Features of Vascular Ehlers-Danlos Syndrome Among Biobank Participants Harboring Predicted High-Risk COL3A1 Genotypes. Circulation. Genomic and precision medicine (2023)
Daniel Greene, null null, Daniela Pirri, Karen Frudd, Ege Sackey, Mohammed Al-Owain, Arnaud P J Giese, Khushnooda Ramzan, Sehar Riaz, Itaru Yamanaka, Nele Boeckx, Chantal Thys, Bruce D Gelb, Paul Brennan, Verity Hartill, Julie Harvengt, Tomoki Kosho, Sahar Mansour, Mitsuo Masuno, Takako Ohata, Helen Stewart, Khalid Taibah, Claire L S Turner, Faiqa Imtiaz, Saima Riazuddin, Takayuki Morisaki, Pia Ostergaard, Bart L Loeys, Hiroko Morisaki, Zubair M Ahmed, Graeme M Birdsey, Kathleen Freson, Andrew Mumford, Ernest Turro
Genetic association analysis of 77,539 genomes reveals rare disease etiologies. Nature medicine 29 (3) (2023)
Saeideh Nakhaei-Rad, Fereshteh Haghighi, Farhad Bazgir, Julia Dahlmann, Alexandra Viktoria Busley, Marcel Buchholzer, Karolin Kleemann, Anne Schänzer, Andrea Borchardt, Andreas Hahn, Sebastian Kötter, Denny Schanze, Ruchika Anand, Florian Funk, Annette Vera Kronenbitter, Jürgen Scheller, Roland P Piekorz, Andreas S Reichert, Marianne Volleth, Matthew J Wolf, Ion Cristian Cirstea, Bruce D Gelb, Marco Tartaglia, Joachim P Schmitt, Martina Krüger, Ingo Kutschka, Lukas Cyganek, Martin Zenker, George Kensah, Mohammad Reza Ahmadian
Molecular and cellular evidence for the impact of a hypertrophic cardiomyopathy-associated RAF1 variant on the structure and function of contractile machinery in bioartificial cardiac tissues. Communications biology 6 (1) (2023)
Son Q Duong, Akhil Vaid, Ha My Thi Vy, Liam R Butler, Joshua Lampert, Robert H Pass, Alexander W Charney, Jagat Narula, Rohan Khera, Ankit Sakhuja, Hayit Greenspan, Bruce D Gelb, Ron Do, Girish Nitin Nadkarni
Quantitative Prediction of Right Ventricular Size and Function From the ECG. Journal of the American Heart Association 13 (1) (2023)
Goo Jun, Adam C English, Ginger A Metcalf, Jianzhi Yang, Mark J P Chaisson, Nathan Pankratz, Vipin K Menon, William J Salerno, Olga Krasheninina, Albert Vernon Smith, John A Lane, Tom Blackwell, Hyun-Min Kang, Sejal Salvi, Qingchang Meng, Hua Shen, Divya Pasham, Sravya Bhamidipati, Kavya Kottapalli, Donna K Arnett, Allison Elizabeth Ashley-Koch, Paul L Auer, Kathleen M Beutel, Joshua C Bis, John E Blangero, Donald W Bowden, Jennifer A Brody, Brian E Cade, Yii-Der Ida Chen, Michael H Cho, Joanne E Curran, Myriam Fornage, Barry I Freedman, Tasha Fingerlin, Bruce D Gelb, Lifang Hou, Yi-Jen Hung, John P Kane, Robert C Kaplan, Wonji Kim, Ruth J F Loos, Gregory M Marcus, Rasika A Mathias, Stephen T McGarvey, Courtney G Montgomery, Take Naseri, S Mehdi Nouraie, Michael H Preuss, Nicholette D D Allred, Patricia A Peyser, Laura M Raffield, Aakrosh Ratan, Susan Redline, Sefuiva Reupena, Jerome I Rotter, Stephen S Rich, Michiel Rienstra, Ingo Ruczinski, Vijay G Sankaran, David A Schwartz, Christine E Seidman, Jonathan G Seidman, Edwin K Silverman, Jennifer A Smith, Adrienne M Stilp, Kent D Taylor, Marilyn J Telen, Scott T Weiss, L Keoki Williams, Baojun Wu, Lisa R Yanek, Yingze Zhang, Jessica A Lasky-Su, Marie Claude Gingras, Susan K Dutcher, Evan E Eichler, Stacey Gabriel, Soren Germer, Ryan Kim, Karine A Viaud-Martinez, Deborah A Nickerson, null null, James Luo, Alexander P Reiner, Richard A Gibbs, Eric Boerwinkle, Goncalo Abecasis, Fritz J Sedlazeck
Structural variation across 138,134 samples in the TOPMed consortium. bioRxiv : the preprint server for biology (2023)
Son Q Duong, Akhil Vaid, Ha My Thi Vy, Liam R Butler, Joshua Lampert, Robert H Pass, Alexander W Charney, Jagat Narula, Rohan Khera, Ankit Sakhuja, Hayit Greenspan, Bruce D Gelb, Ron Do, Girish Nitin Nadkarni
Quantitative Prediction of Right Ventricular Size and Function From the ECG. Journal of the American Heart Association 13 (1) (2023)
Min Young Jang, Parth N Patel, Alexandre C Pereira, Jon A L Willcox, Alireza Haghighi, Angela C Tai, Shefali S Verma, Sarah U Morton, Joshua M Gorham, David M McKean, Steven R DePalma, Daniel Bernstein, Martina Brueckner, Wendy K Chung, Alessandro Giardini, Elizabeth Goldmuntz, Jonathan R Kaltman, Richard W Kim, Jane W Newburger, Yufeng Shen, Deepak Srivastava, Martin Tristani-Firouzi, Bruce D Gelb, George A Porter, Christine E Seidman, Jonathan G Seidman
Contribution of Previously Unrecognized RNA Splice-Altering Variants to Congenital Heart Disease. Circulation. Genomic and precision medicine (2023)
Son Q Duong, Akhil Vaid, Ha My Thi Vy, Liam R Butler, Joshua Lampert, Robert H Pass, Alexander W Charney, Jagat Narula, Rohan Khera, Ankit Sakhuja, Hayit Greenspan, Bruce D Gelb, Ron Do, Girish Nitin Nadkarni
Quantitative Prediction of Right Ventricular Size and Function From the ECG. Journal of the American Heart Association 13 (1) (2023)
Emily L Griffin, Shannon N Nees, Sarah U Morton, Julia Wynn, Nihir Patel, Vaidehi Jobanputra, Scott Robinson, Stephanie M Kochav, Alice Tao, Carli Andrews, Nancy Cross, Judith Geva, Kristen Lanzilotta, Alyssa L Ritter, Eileen Taillie, Alexandra Thompson, Chris Meyer, Rachel Akers, Eileen C King, James F Cnota, Richard W Kim, George A Porter, Martina Brueckner, Christine E Seidman, Yufeng Shen, Bruce D Gelb, Elizabeth Goldmuntz, Jane W Newburger, Amy E Roberts, Wendy K Chung
Evidence-Based Assessment of Congenital Heart Disease Genes to Enable Returning Results in a Genomic Study. Circulation. Genomic and precision medicine (2023)
Son Q Duong, Akhil Vaid, Ha My Thi Vy, Liam R Butler, Joshua Lampert, Robert H Pass, Alexander W Charney, Jagat Narula, Rohan Khera, Ankit Sakhuja, Hayit Greenspan, Bruce D Gelb, Ron Do, Girish Nitin Nadkarni
Quantitative Prediction of Right Ventricular Size and Function From the ECG. Journal of the American Heart Association 13 (1) (2023)
Goo Jun, Adam C English, Ginger A Metcalf, Jianzhi Yang, Mark J P Chaisson, Nathan Pankratz, Vipin K Menon, William J Salerno, Olga Krasheninina, Albert Vernon Smith, John A Lane, Tom Blackwell, Hyun-Min Kang, Sejal Salvi, Qingchang Meng, Hua Shen, Divya Pasham, Sravya Bhamidipati, Kavya Kottapalli, Donna K Arnett, Allison Elizabeth Ashley-Koch, Paul L Auer, Kathleen M Beutel, Joshua C Bis, John E Blangero, Donald W Bowden, Jennifer A Brody, Brian E Cade, Yii-Der Ida Chen, Michael H Cho, Joanne E Curran, Myriam Fornage, Barry I Freedman, Tasha Fingerlin, Bruce D Gelb, Lifang Hou, Yi-Jen Hung, John P Kane, Robert C Kaplan, Wonji Kim, Ruth J F Loos, Gregory M Marcus, Rasika A Mathias, Stephen T McGarvey, Courtney G Montgomery, Take Naseri, S Mehdi Nouraie, Michael H Preuss, Nicholette D D Allred, Patricia A Peyser, Laura M Raffield, Aakrosh Ratan, Susan Redline, Sefuiva Reupena, Jerome I Rotter, Stephen S Rich, Michiel Rienstra, Ingo Ruczinski, Vijay G Sankaran, David A Schwartz, Christine E Seidman, Jonathan G Seidman, Edwin K Silverman, Jennifer A Smith, Adrienne M Stilp, Kent D Taylor, Marilyn J Telen, Scott T Weiss, L Keoki Williams, Baojun Wu, Lisa R Yanek, Yingze Zhang, Jessica A Lasky-Su, Marie Claude Gingras, Susan K Dutcher, Evan E Eichler, Stacey Gabriel, Soren Germer, Ryan Kim, Karine A Viaud-Martinez, Deborah A Nickerson, null null, James Luo, Alexander P Reiner, Richard A Gibbs, Eric Boerwinkle, Goncalo Abecasis, Fritz J Sedlazeck
Structural variation across 138,134 samples in the TOPMed consortium. bioRxiv : the preprint server for biology (2023)
Min Young Jang, Parth N Patel, Alexandre C Pereira, Jon A L Willcox, Alireza Haghighi, Angela C Tai, Shefali S Verma, Sarah U Morton, Joshua M Gorham, David M McKean, Steven R DePalma, Daniel Bernstein, Martina Brueckner, Wendy K Chung, Alessandro Giardini, Elizabeth Goldmuntz, Jonathan R Kaltman, Richard W Kim, Jane W Newburger, Yufeng Shen, Deepak Srivastava, Martin Tristani-Firouzi, Bruce D Gelb, George A Porter, Christine E Seidman, Jonathan G Seidman
Contribution of Previously Unrecognized RNA Splice-Altering Variants to Congenital Heart Disease. Circulation. Genomic and precision medicine (2023)
Son Q Duong, Akhil Vaid, Ha My Thi Vy, Liam R Butler, Joshua Lampert, Robert H Pass, Alexander W Charney, Jagat Narula, Rohan Khera, Hayit Greenspan, Bruce D Gelb, Ron Do, Girish Nitin Nadkarni
Quantitative prediction of right ventricular and size and function from the electrocardiogram. medRxiv : the preprint server for health sciences (2023)
Goo Jun, Adam C English, Ginger A Metcalf, Jianzhi Yang, Mark J P Chaisson, Nathan Pankratz, Vipin K Menon, William J Salerno, Olga Krasheninina, Albert Vernon Smith, John A Lane, Tom Blackwell, Hyun-Min Kang, Sejal Salvi, Qingchang Meng, Hua Shen, Divya Pasham, Sravya Bhamidipati, Kavya Kottapalli, Donna K Arnett, Allison Elizabeth Ashley-Koch, Paul L Auer, Kathleen M Beutel, Joshua C Bis, John E Blangero, Donald W Bowden, Jennifer A Brody, Brian E Cade, Yii-Der Ida Chen, Michael H Cho, Joanne E Curran, Myriam Fornage, Barry I Freedman, Tasha Fingerlin, Bruce D Gelb, Lifang Hou, Yi-Jen Hung, John P Kane, Robert C Kaplan, Wonji Kim, Ruth J F Loos, Gregory M Marcus, Rasika A Mathias, Stephen T McGarvey, Courtney G Montgomery, Take Naseri, S Mehdi Nouraie, Michael H Preuss, Nicholette D D Allred, Patricia A Peyser, Laura M Raffield, Aakrosh Ratan, Susan Redline, Sefuiva Reupena, Jerome I Rotter, Stephen S Rich, Michiel Rienstra, Ingo Ruczinski, Vijay G Sankaran, David A Schwartz, Christine E Seidman, Jonathan G Seidman, Edwin K Silverman, Jennifer A Smith, Adrienne M Stilp, Kent D Taylor, Marilyn J Telen, Scott T Weiss, L Keoki Williams, Baojun Wu, Lisa R Yanek, Yingze Zhang, Jessica A Lasky-Su, Marie Claude Gingras, Susan K Dutcher, Evan E Eichler, Stacey Gabriel, Soren Germer, Ryan Kim, Karine A Viaud-Martinez, Deborah A Nickerson, null null, James Luo, Alexander P Reiner, Richard A Gibbs, Eric Boerwinkle, Goncalo Abecasis, Fritz J Sedlazeck
Structural variation across 138,134 samples in the TOPMed consortium. bioRxiv : the preprint server for biology (2023)
Goo Jun, Adam English, Ginger Metcalf, Jianzhi Yang, Mark J P Chaisson, Nathan D Pankratz, Vipin K Menon, William Salerno, Olga Krasheninina, Albert Vernon Smith, John Lane, Thomas Blackwell, Hyun Min Kang, Sejal Salvi, Qingchang Meng, Hua Shen, Divya Pasham, Sravya Bhamidipati, Kavya Kottapalli, Donna K Arnett, Allison Elizabeth Ashley-Koch, Paul L Auer, KAthleen Beutel, Joshua C Bis, John E Blangero, Donald Bowden, Jennifer A Brody, Brian E Cade, Yii-Der Ida Chen, Michael Cho, Joanne E Curran, Myriam Fornage, Barry Frredman, Tasha Fingerlin, Bruce D Gelb, Lifang Hou, Yi-Jen Hung, John P Kane, Robert Kaplan, Wonji Kim, Ruth J F Loos, Gregory M Marcus, Rasika A Mathias, Stephen T McGarvey, Courtney Montgomery, Take Naseri, Seyed Nouraie, Michael H Preuss, Nicholette D D Allred, Patricia A Peyser, Laura Raffield, Aakrosh Ratan, Susan Redline, Muagututia Reupena, Jerome Rotter, Stephen S Rich, Michiel Rienstra, Ingo Ruczinski, Vijay G Sankaran, David A Schwartz, Christine E Seidman, Jonathan G Seidman, Edwin Silverman, Jennifer A Smith, Adrienne M Stilp, Kent Taylor, Marilyn Telen, Scott Weiss, L Keoki Williams, Baojun Wu, Lisa R Yanek, Yingze Zhang, Jessica Lasky-Su, Marie-Claude Gingras, Susan K Dutcher, Evan Eichler, Stacey Gabriel, Soren Germer, Ryan Kim, Karine Martinez, Deborah Nickerson, James Luo, Alexander P Reiner, Richard Gibbs, Eric Boerwinkle, Goncaol Abecasis, Fritz J Sedlazeck
Structural variation across 138,134 samples in the TOPMed consortium. Research square (2023)
Goo Jun, Adam English, Ginger Metcalf, Jianzhi Yang, Mark J P Chaisson, Nathan D Pankratz, Vipin K Menon, William Salerno, Olga Krasheninina, Albert Vernon Smith, John Lane, Thomas Blackwell, Hyun Min Kang, Sejal Salvi, Qingchang Meng, Hua Shen, Divya Pasham, Sravya Bhamidipati, Kavya Kottapalli, Donna K Arnett, Allison Elizabeth Ashley-Koch, Paul L Auer, KAthleen Beutel, Joshua C Bis, John E Blangero, Donald Bowden, Jennifer A Brody, Brian E Cade, Yii-Der Ida Chen, Michael Cho, Joanne E Curran, Myriam Fornage, Barry Frredman, Tasha Fingerlin, Bruce D Gelb, Lifang Hou, Yi-Jen Hung, John P Kane, Robert Kaplan, Wonji Kim, Ruth J F Loos, Gregory M Marcus, Rasika A Mathias, Stephen T McGarvey, Courtney Montgomery, Take Naseri, Seyed Nouraie, Michael H Preuss, Nicholette D D Allred, Patricia A Peyser, Laura Raffield, Aakrosh Ratan, Susan Redline, Muagututia Reupena, Jerome Rotter, Stephen S Rich, Michiel Rienstra, Ingo Ruczinski, Vijay G Sankaran, David A Schwartz, Christine E Seidman, Jonathan G Seidman, Edwin Silverman, Jennifer A Smith, Adrienne M Stilp, Kent Taylor, Marilyn Telen, Scott Weiss, L Keoki Williams, Baojun Wu, Lisa R Yanek, Yingze Zhang, Jessica Lasky-Su, Marie-Claude Gingras, Susan K Dutcher, Evan Eichler, Stacey Gabriel, Soren Germer, Ryan Kim, Karine Martinez, Deborah Nickerson, James Luo, Alexander P Reiner, Richard Gibbs, Eric Boerwinkle, Goncaol Abecasis, Fritz J Sedlazeck
Structural variation across 138,134 samples in the TOPMed consortium. Research square (2023)
Mengyao Yu, Matthew Aguirre, Meiwen Jia, Ketrin Gjoni, Aldo Cordova-Palomera, Chad Munger, Dulguun Amgalan, X Rosa Ma, Alexandre da Costa Pereira, Catherine Tcheandjieu, Christine E Seidman, Jonathan G Seidman, Martin Tristani-Firouzi, Wendy K Chung, Elizabeth Goldmuntz, Deepak Srivastava, Ruth J F Loos, Nathalie Chami, Heather J Cordell, Martina Dreßen, Bertram Mueller-Myhsok, Harald Lahm, Markus Krane, Katherine S Pollard, Jesse M Engreitz, Sarah A Gagliano Taliun, Bruce D Gelb, James R Priest
Oligogenic Architecture of Rare Noncoding Variants Distinguishes 4 Congenital Heart Disease Phenotypes. Circulation. Genomic and precision medicine (2023)
Son Q Duong, Akhil Vaid, Ha My Thi Vy, Liam R Butler, Joshua Lampert, Robert H Pass, Alexander W Charney, Jagat Narula, Rohan Khera, Ankit Sakhuja, Hayit Greenspan, Bruce D Gelb, Ron Do, Girish Nitin Nadkarni
Quantitative Prediction of Right Ventricular Size and Function From the ECG. Journal of the American Heart Association (2023)
Emily L Griffin, Shannon N Nees, Sarah U Morton, Julia Wynn, Nihir Patel, Vaidehi Jobanputra, Scott Robinson, Stephanie M Kochav, Alice Tao, Carli Andrews, Nancy Cross, Judith Geva, Kristen Lanzilotta, Alyssa L Ritter, Eileen Taillie, Alexandra Thompson, Chris Meyer, Rachel Akers, Eileen C King, James F Cnota, Richard W Kim, George A Porter, Martina Brueckner, Christine E Seidman, Yufeng Shen, Bruce D Gelb, Elizabeth Goldmuntz, Jane W Newburger, Amy E Roberts, Wendy K Chung
Evidence-Based Assessment of Congenital Heart Disease Genes to Enable Returning Results in a Genomic Study. Circulation. Genomic and precision medicine (2023)
Emily L Griffin, Shannon N Nees, Sarah U Morton, Julia Wynn, Nihir Patel, Vaidehi Jobanputra, Scott Robinson, Stephanie M Kochav, Alice Tao, Carli Andrews, Nancy Cross, Judith Geva, Kristen Lanzilotta, Alyssa L Ritter, Eileen Taillie, Alexandra Thompson, Chris Meyer, Rachel Akers, Eileen C King, James F Cnota, Richard W Kim, George A Porter, Martina Brueckner, Christine E Seidman, Yufeng Shen, Bruce D Gelb, Elizabeth Goldmuntz, Jane W Newburger, Amy E Roberts, Wendy K Chung
Evidence-Based Assessment of Congenital Heart Disease Genes to Enable Returning Results in a Genomic Study. Circulation. Genomic and precision medicine (2023)
Maria I Kontaridis, Amy E Roberts, Lisa Schill, Lisa Schoyer, Beth Stronach, Gregor Andelfinger, Yoko Aoki, Marni E Axelrad, Annette Bakker, Anton M Bennett, Alberto Broniscer, Pau Castel, Caitlin A Chang, Lukas Cyganek, Tirtha K Das, Jeroen den Hertog, Emilia Galperin, Shruti Garg, Bruce D Gelb, Kristiana Gordon, Tamar Green, Karen W Gripp, Maxim Itkin, Maija Kiuru, Bruce R Korf, Jeff R Livingstone, Alejandro López-Juárez, Pilar L Magoulas, Sahar Mansour, Theresa Milner, Elisabeth Parker, Elizabeth I Pierpont, Kevin Plouffe, Katherine A Rauen, Suma P Shankar, Shane B Smith, David A Stevenson, Tartaglia Marco, Richard Van, Morgan E Wagner, Stephanie M Ware, Martin Zenker
The seventh international RASopathies symposium: Pathways to a cure-expanding knowledge, enhancing research, and therapeutic discovery. American journal of medical genetics. Part A 188 (6) (2022)
Bruce D Gelb, Marielle E Yohe, Cordula Wolf, Gregor U Andelfinger
New prospectives on treatment opportunities in RASopathies. American journal of medical genetics. Part C, Seminars in medical genetics 190 (4) (2022)
Sarah U Morton, Alexandre da Costa Pereira, Daniel Quiat, Felix Richter, Alexander Kitaygorodsky, Jacob Hagen, Daniel Bernstein, Martina Brueckner, Elizabeth Goldmuntz, Richard W Kim, Richard P Lifton, George A Porter, Martin Tristani-Firouzi, Wendy K Chung, Amy E Roberts, Bruce D Gelb, Yufeng Shen, Jane W Newburger, Jonathan G Seidman, Christine E Seidman
Genome-Wide De Novo Variants in Congenital Heart Disease Are Not Associated With Maternal Diabetes or Obesity. Circulation. Genomic and precision medicine 15 (2) (2022)
Michael D Linderman, Crystal Paudyal, Musab Shakeel, William Kelley, Ali Bashir, Bruce D Gelb
NPSV: A simulation-driven approach to genotyping structural variants in whole-genome sequencing data. GigaScience 10 (7) (2022)
Tartaglia Marco, Yoko Aoki, Bruce D Gelb
The molecular genetics of RASopathies: An update on novel disease genes and new disorders. American journal of medical genetics. Part C, Seminars in medical genetics (2022)
Jacqueline A Odgis, Katie M Gallagher, Atteeq U Rehman, Priya N Marathe, Katherine E Donohue, Monisha Sebastin, Miranda Di Biase, Kaitlyn Brown, Nicole R Kelly, Michelle A Ramos, Amanda L Thomas, Saurav Guha, Volkan Okur, Mythily Ganapathi, Lama Elkhoury, Lisa Edelmann, Randi E Zinberg, Noura S Abul-Husn, George A Diaz, John M Greally, Sabrina A Suckiel, Vaidehi Jobanputra, Carol R Horowitz, Eimear E Kenny, Melissa P Wasserstein, Bruce D Gelb
Detection of mosaic variants using genome sequencing in a large pediatric cohort. American journal of medical genetics. Part A 191 (3) (2022)
Jacqueline A Odgis, Katie M Gallagher, Atteeq U Rehman, Priya N Marathe, Katherine E Donohue, Monisha Sebastin, Miranda Di Biase, Kaitlyn Brown, Nicole R Kelly, Michelle A Ramos, Amanda L Thomas, Saurav Guha, Volkan Okur, Mythily Ganapathi, Lama Elkhoury, Lisa Edelmann, Randi E Zinberg, Noura S Abul-Husn, George A Diaz, John M Greally, Sabrina A Suckiel, Vaidehi Jobanputra, Carol R Horowitz, Eimear E Kenny, Melissa P Wasserstein, Bruce D Gelb
Detection of mosaic variants using genome sequencing in a large pediatric cohort. American journal of medical genetics. Part A 191 (3) (2022)
Jacqueline A Odgis, Katie M Gallagher, Atteeq U Rehman, Priya N Marathe, Katherine E Donohue, Monisha Sebastin, Miranda Di Biase, Kaitlyn Brown, Nicole R Kelly, Michelle A Ramos, Amanda L Thomas, Saurav Guha, Volkan Okur, Mythily Ganapathi, Lama Elkhoury, Lisa Edelmann, Randi E Zinberg, Noura S Abul-Husn, George A Diaz, John M Greally, Sabrina A Suckiel, Vaidehi Jobanputra, Carol R Horowitz, Eimear E Kenny, Melissa P Wasserstein, Bruce D Gelb
Detection of mosaic variants using genome sequencing in a large pediatric cohort. American journal of medical genetics. Part A 191 (3) (2022)
Angelica Bibiana Delogu, Giuseppe Limongelli, Paolo Versacci, Rachele Adorisio, Juan Pablo Kaski, Rita Blandino, Stella Maiolo, Emanuele Monda, Carolina Putotto, Gabriella De Rosa, Kathryn C Chatfield, Bruce D Gelb, Giulio Calcagni
The heart in RASsopathies. American journal of medical genetics. Part C, Seminars in medical genetics (2022)
Bruce D Gelb, Marielle E Yohe, Cordula Wolf, Gregor U Andelfinger
New prospectives on treatment opportunities in RASopathies. American journal of medical genetics. Part C, Seminars in medical genetics (2022)
Kathryn Nicole Weaver, Jing Chen, Amy R Shikany, Peter S White, Carlos E Prada, Bruce D Gelb, James F Cnota, null null
Prevalence of Genetic Diagnoses in a Cohort With Valvar Pulmonary Stenosis. Circulation. Genomic and precision medicine 15 (4) (2022)
Bruce D Gelb, Marielle E Yohe, Cordula Wolf, Gregor U Andelfinger
New prospectives on treatment opportunities in RASopathies. American journal of medical genetics. Part C, Seminars in medical genetics 190 (4) (2022)
Jacqueline A Odgis, Katie M Gallagher, Atteeq U Rehman, Priya N Marathe, Katherine E Donohue, Monisha Sebastin, Miranda Di Biase, Kaitlyn Brown, Nicole R Kelly, Michelle A Ramos, Amanda L Thomas, Saurav Guha, Volkan Okur, Mythily Ganapathi, Lama Elkhoury, Lisa Edelmann, Randi E Zinberg, Noura S Abul-Husn, George A Diaz, John M Greally, Sabrina A Suckiel, Vaidehi Jobanputra, Carol R Horowitz, Eimear E Kenny, Melissa P Wasserstein, Bruce D Gelb
Detection of mosaic variants using genome sequencing in a large pediatric cohort. American journal of medical genetics. Part A (2022)
Bruce D Gelb, Marielle E Yohe, Cordula Wolf, Gregor U Andelfinger
New prospectives on treatment opportunities in RASopathies. American journal of medical genetics. Part C, Seminars in medical genetics 190 (4) (2022)
Tania Ruiz Maya, Veronica Fettig, Lakshmi Mehta, Bruce D Gelb, Amy R Kontorovich
Dysautonomia in hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders is associated with exercise intolerance and cardiac atrophy. American journal of medical genetics. Part A 185 (12) (2021)
Susanna Balcells, Hilary Hotchkiss, Pankaj Prasun, Bruce D Gelb, Lisa M Satlin
Biallelic loss-of-function variants in KCNJ16 presenting with hypokalemic metabolic acidosis. European journal of human genetics : EJHG 29 (10) (2021)
Noam D Beckmann, Phillip H Comella, Esther Cheng, Lauren Lepow, Aviva G Beckmann, Scott R Tyler, Konstantinos Mouskas, Nicole W Simons, Gabriel E Hoffman, Nancy J Francoeur, Diane M Del Valle, Gurpawan Kang, Anh Do, Emily Moya, Lillian Wilkins, Jessica Le Berichel, Christie Chang, Robert Marvin, Sharlene Calorossi, Alona Lansky, Laura Walker, Nancy Yi, Alex Yu, Jonathan Chung, Matthew Hartnett, Melody Eaton, Sandra Hatem, Hajra Jamal, Alara Akyatan, Alexandra Tabachnikova, Lora E Liharska, Liam Cotter, Brian Fennessy, Akhil Vaid, Guillermo Barturen, Hardik Shah, Ying-Chih Wang, Shwetha Hara Sridhar, Juan Soto, Swaroop Bose, Kent Madrid, Ethan Ellis, Elyze Merzier, Konstantinos Vlachos, Nataly Fishman, Manying Tin, Melissa Smith, Hui Xie, Manishkumar Patel, Kai Nie, Kimberly Argueta, Jocelyn Harris, Neha Karekar, Craig Batchelor, Jose Lacunza, Mahlet Yishak, Kevin Tuballes, Ieisha Scott, Arvind Kumar, Suraj K Jaladanki, Charuta Agashe, Ryan C Thompson, Evan Clark, Bojan Losic, Lauren Peters, null null, Panagiotis Roussos, Jun Zhu, Wenhui Wang, Andrew Kasarskis, Benjamin Scott Glicksberg, Girish Nadkarni, Dusan Bogunovic, Cordelia Elaiho, Sandeep Gangadharan, George Ofori-Amanfo, Kasey Alesso-Carra, Kenan Onel, Karen M Wilson, Carmen A Argmann, Supinda Bunyavanich, Marta Eugenia Alarcón-Riquelme, Thomas U Marron, Adeeb Rahman, Seunghee Kim-Schulze, Sacha Gnjatic, Bruce D Gelb, Miriam Merad, Robert Sebra, Eric E Schadt, Alexander W Charney
Downregulation of exhausted cytotoxic T cells in gene expression networks of multisystem inflammatory syndrome in children. Nature communications 12 (1) (2021)
Markus Krane, Martina Dreßen, Gianluca Santamaria, Ilaria My, Christine M Schneider, Tatjana Dorn, Svenja Laue, Elisa Mastantuono, Riccardo Berutti, Hilansi Rawat, Ralf Gilsbach, Pedro Schneider, Harald Lahm, Sascha Schwarz, Stefanie A Doppler, Sharon L Paige, Nazan Puluca, Sophia Doll, Irina Neb, Thomas Brade, Zhong Zhang, Claudia Abou-Ajram, Bernd H Northoff, Lesca M Holdt, Stefanie Sudhop, Makoto Sahara, Alexander Goedel, Andreas Dendorfer, Fleur V Y Tjong, Maria E Rijlaarsdam, Julie Cleuziou, Nora Lang, Christian Kupatt, Connie R Bezzina, Rüdiger Lange, Neil E Bowles, Matthias Mann, Bruce D Gelb, Lia Crotti, Lutz Hein, Thomas Meitinger, Sean M Wu, Daniel Sinnecker, Peter J Gruber, Karl-Ludwig Laugwitz, Alessandra Moretti
Sequential Defects in Cardiac Lineage Commitment and Maturation Cause Hypoplastic Left Heart Syndrome. Circulation 144 (17) (2021)
Léa Linglart, Bruce D Gelb
Congenital heart defects in Noonan syndrome: Diagnosis, management, and treatment. American journal of medical genetics. Part C, Seminars in medical genetics 184 (1) (2020)
Brittany M Wenger, Nihir Patel, Madeline Lui, Arden Moscati, Ron Do, Douglas R Stewart, Marco Tartaglia, Laura Muiño-Mosquera, Julie De Backer, Amy R Kontorovich, Bruce D Gelb
A genotype-first approach to exploring Mendelian cardiovascular traits with clear external manifestations. Genetics in medicine : official journal of the American College of Medical Genetics 23 (1) (2020)
Alejandro Martin-Trujillo, Nihir Patel, Felix Richter, Bharati Jadhav, Paras Garg, Sarah U Morton, David M McKean, Steven R DePalma, Elizabeth Goldmuntz, Dorota Gruber, Richard Kim, Jane W Newburger, George A Porter, Alessandro Giardini, Daniel Bernstein, Martin Tristani-Firouzi, Jonathan G Seidman, Christine E Seidman, Wendy K Chung, Bruce D Gelb, Andrew J Sharp
Rare genetic variation at transcription factor binding sites modulates local DNA methylation profiles. PLoS genetics 16 (11) (2020)
Neha Ahluwalia, Bruce D Gelb
A de novo pathogenic BMP2 variant-related phenotype with the novel finding of bicuspid aortic valve. American journal of medical genetics. Part A 185 (2) (2020)
Felix Richter, Sarah U Morton, Seong Won Kim, Alexander Kitaygorodsky, Lauren K Wasson, Kathleen M Chen, Jian Zhou, Hongjian Qi, Nihir Patel, Steven R DePalma, Michael Parfenov, Jason Homsy, Joshua M Gorham, Kathryn B Manheimer, Matthew Velinder, Andrew Farrell, Gabor T Marth, Eric E Schadt, Jonathan R Kaltman, Jane W Newburger, Alessandro Giardini, Elizabeth Goldmuntz, Martina Brueckner, Richard Kim, George A Porter, Daniel Bernstein, Wendy K Chung, Deepak Srivastava, Martin Tristani-Firouzi, Olga G Troyanskaya, Diane E Dickel, Yufeng Shen, Jonathan G Seidman, Christine E Seidman, Bruce D Gelb
Genomic analyses implicate noncoding de novo variants in congenital heart disease. Nature genetics 52 (8) (2020)
Roser Urreizti, Klaus Mayer, Gilad D Evrony, Edith Said, Laura Castilla-Vallmanya, Neal A L Cody, Guillem Plasencia, Bruce D Gelb, Daniel Grinberg, Ulrich Brinkmann, Bryn D Webb, Susanna Balcells
DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients. European journal of human genetics : EJHG 28 (1) (2019)
W Scott Watkins, E Javier Hernandez, Sergiusz Wesołowski, Brent W Bisgrove, Ryan T Sunderland, Edwin Lin, Gordon Lemmon, Bradley L Demarest, Thomas A Miller, Daniel Bernstein, Martina Brueckner, Wendy K Chung, Bruce D Gelb, Elizabeth Goldmuntz, Jane W Newburger, Christine E Seidman, Yufeng Shen, H Joseph Yostl, Mark Yandell, Martin Tristani-Firouzi
De novo and recessive forms of congenital heart disease have distinct genetic and phenotypic landscapes. Nature communications 10 (1) (2019)
Karin Weiss, Hayley P Lazar, Alina Kurolap, Ariel F Martinez, Tamar Paperna, Lior Cohen, Marie F Smeland, Sandra Whalen, Solveig Heide, Boris Keren, Pauline Terhal, Melita Irving, Motoki Takaku, John D Roberts, Robert M Petrovich, Samantha A Schrier Vergano, Amy Kenney, Hanne Hove, Elizabeth DeChene, Shane C Quinonez, Estelle Colin, Alban Ziegler, Melissa Rumple, Mahim Jain, Danielle C Monteil, Elizabeth R Roeder, Kimberly Nugent, Arie van Haeringen, Michael Gambello, Avni Santani, Līvija Medne, Bryan Krock, Cara M Skraban, Elaine H Zackai, Holly A Dubbs, Thomas Smol, Jamal Ghoumid, Michael J Parker, Michael Wright, Peter D Turnpenny, Jill Clayton-Smith, Kay Metcalfe, Hitoshi Kurumizaka, Bruce D Gelb, Hagit Baris Feldman, Philippe M Campeau, Maximilian Muenke, Paul A Wade, Katherine Lachlan
The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis. Genetics in medicine : official journal of the American College of Medical Genetics 22 (2) (2019)
Rosalind Verheije, Gabriel S Kupchik, Bertrand Isidor, Hester Y Kroes, Sally Ann Lynch, Lara Hawkes, Maja Hempel, Bruce D Gelb, Jamal Ghoumid, Guylaine D'Amours, Kate Chandler, Christèle Dubourg, Sara Loddo, Zeynep Tümer, Charles Shaw-Smith, Mathilde Nizon, Michael Shevell, Evelien Van Hoof, Kwame Anyane-Yeboa, Gaetana Cerbone, Jill Clayton-Smith, Benjamin Cogné, Pierre Corre, Anniek Corveleyn, Marie De Borre, Tina Duelund Hjortshøj, Mélanie Fradin, Stephen Brown, Elizabeth Goldmuntz, Greet Hens, Emmanuelle Lemyre, Hubert Journel, Usha Kini, Fanny Kortüm, Cedric Le Caignec, Antonio Novelli, Sylvie Odent, Florence Petit, Anya Revah-Politi, Nicholas Stong, Tim M Strom, Ellen van Binsbergen, null null, Koenraad Devriendt, Jeroen Breckpot
Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability. European journal of human genetics : EJHG 27 (2) (2018)
Thanh T Hoang, Elizabeth Goldmuntz, Amy E Roberts, Wendy K Chung, Jennie K Kline, John E Deanfield, Alessandro Giardini, Adolfo Aleman, Bruce D Gelb, Meghan Mac Neal, George A Porter, Richard Kim, Martina Brueckner, Richard P Lifton, Sharon Edman, Stacy Woyciechowski, Laura E Mitchell, A J Agopian
The Congenital Heart Disease Genetic Network Study: Cohort description. PloS one 13 (1) (2018)
Ralf Gilsbach, Martin Schwaderer, Sebastian Preissl, Björn A Grüning, David Kranzhöfer, Pedro Schneider, Thomas G Nührenberg, Sonia Mulero-Navarro, Dieter Weichenhan, Christian Braun, Martina Dreßen, Adam R Jacobs, Harald Lahm, Torsten Doenst, Rolf Backofen, Markus Krane, Bruce D Gelb, Lutz Hein
Distinct epigenetic programs regulate cardiac myocyte development and disease in the human heart in vivo. Nature communications 9 (1) (2018)
Mafalda Barbosa, Ricky S Joshi, Paras Garg, Alejandro Martin-Trujillo, Nihir Patel, Bharati Jadhav, Corey T Watson, William Gibson, Kelsey Chetnik, Chloe Tessereau, Hui Mei, Silvia De Rubeis, Jennifer Reichert, Fatima Lopes, Lisenka E L M Vissers, Tjitske Kleefstra, Dorothy E Grice, Lisa Edelmann, Gabriela Soares, Patricia Maciel, Han G Brunner, Joseph D Buxbaum, Bruce D Gelb, Andrew J Sharp
Identification of rare de novo epigenetic variations in congenital disorders. Nature communications 9 (1) (2018)
Yi Zhou, Huimei Chen, Li Liu, Xueqing Yu, Galina K Sukhova, Min Yang, Vasileios C Kyttaris, Isaac E Stillman, Bruce D Gelb, Peter Libby, George C Tsokos, Guo-Ping Shi
Cathepsin K Deficiency Ameliorates Systemic Lupus Erythematosus-like Manifestations in Faslpr Mice. Journal of immunology (Baltimore, Md. : 1950) 198 (5) (2017)
Alvaro San Martin, Lorena Rela, Bruce D Gelb, Mario Rafael Pagani
The Spacing Effect for Structural Synaptic Plasticity Provides Specificity and Precision in Plastic Changes. The Journal of neuroscience : the official journal of the Society for Neuroscience 37 (19) (2017)
Sheng Chih Jin, Jason Homsy, Samir Zaidi, Qiongshi Lu, Sarah Morton, Steven R DePalma, Xue Zeng, Hongjian Qi, Weni Chang, Michael C Sierant, Wei-Chien Hung, Shozeb M Haider, Junhui Zhang, James R Knight, Robert D Bjornson, Christopher Castaldi, Irina R Tikhonoa, Kaya Bilguvar, Shrikant M Mane, Stephan J Sanders, Seema Mital, Mark W Russell, J William Gaynor, John Deanfield, Alessandro Giardini, George A Porter, Deepak Srivastava, Cecelia W Lo, Yufeng Shen, W Scott Watkins, Mark Yandell, H Joseph Yost, Martin Tristani-Firouzi, Jane W Newburger, Amy E Roberts, Richard Kim, Hongyu Zhao, Jonathan R Kaltman, Elizabeth Goldmuntz, Wendy K Chung, Jonathan G Seidman, Bruce D Gelb, Christine E Seidman, Richard P Lifton, Martina Brueckner
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands. Nature genetics 49 (11) (2017)
David M McKean, Jason Homsy, Hiroko Wakimoto, Neil Patel, Joshua Gorham, Steven R DePalma, James Simon Ware, Samir Zaidi, Wenji Ma, Nihir Patel, Richard P Lifton, Wendy K Chung, Richard Kim, Yufeng Shen, Martina Brueckner, Elizabeth Goldmuntz, Andrew J Sharp, Christine E Seidman, Bruce D Gelb, J G Seidman
Loss of RNA expression and allele-specific expression associated with congenital heart disease. Nature communications 7 (2016)

Bruce D Gelb.css-eqlu8i{font-size:small;padding-left:4px;} (Bruce Gelb)

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Bruce D Gelb (Bruce Gelb)