Pankaj B Agrawal

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 31

Top Topics

Interstitial Lung Disease

Intensive Care Unit

Saccharomyces Cerevisiae

Top Venues

NPJ genomic medicine

American journal of medical genetics. Part A

Journal of perinatology : official journal of the California Perinatal Association

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

Publications

Maria Carla Borroto, Coralie Michaud, Chloé Hudon, Pankaj B Agrawal, Katherine Agre, Carolyn D Applegate, Alan H Beggs, Hans T Bjornsson, Bert Callewaert, Mei-Jan Chen, Cynthia Curry, Orrin Devinsky, Tracy Dudding-Byth, Kelly Fagan, Candice R Finnila, Ralitza Gavrilova, Casie A Genetti, Susan M Hiatt, Friedhelm Hildebrandt, Monica Hsiung Wojcik, Tjitske Kleefstra, Caroline M Kolvenbach, Bruce R Korf, Paul S Kruszka, Hong Li, Jessica Litwin, Julien Marcadier, Konrad Platzer, Patrick R Blackburn, Margot R F Reijnders, Heiko Martin Reutter, Ina Schanze, Joseph T Shieh, Cathy A Stevens, Zaheer Valivullah, Marie-José H van den Boogaard, Eric W Klee, Philippe M Campeau
A Genotype/Phenotype Study of KDM5B -Associated Disorders Suggests a Pathogenic Effect of Dominantly Inherited Missense Variants. Genes 15 (8) (2024)
Shiyu Luo, Bilal Alwattar, Qifei Li, Kiran Bora, Alexandra K Blomfield, Jasmine Lin, Anne Fulton, Jing Chen, Pankaj B Agrawal
HBS1L deficiency causes retinal dystrophy in a child and in a mouse model associated with defective development of photoreceptor cells. Disease models & mechanisms 17 (8) (2024)
Shiyu Luo, Bilal Alwattar, Qifei Li, Kiran Bora, Alexandra K Blomfield, Jasmine Lin, Anne Fulton, Jing Chen, Pankaj B Agrawal
HBS1L deficiency causes retinal dystrophy in a child and in a mouse model associated with defective development of photoreceptor cells. Disease models & mechanisms 17 (8) (2024)
Klaus Schmitz-Abe, Qifei Li, Sunny Greene, Michela Borrelli, Shiyu Luo, Madesh C Ramesh, Pankaj B Agrawal
Unique Signatures of Highly Constrained Genes Across Publicly Available Genomic Databases. bioRxiv : the preprint server for biology (2024)
Shiyu Luo, Bilal Alwattar, Qifei Li, Kiran Bora, Alexandra K Blomfield, Jasmine Lin, Anne Fulton, Jing Chen, Pankaj B Agrawal
HBS1L deficiency causes retinal dystrophy in a child and a mouse model associated with defective development of photoreceptor cells. Disease models & mechanisms (2024)
Shiyu Luo, Bilal Alwattar, Qifei Li, Kiran Bora, Alexandra K Blomfield, Jasmine Lin, Anne Fulton, Jing Chen, Pankaj B Agrawal
HBS1L deficiency causes retinal dystrophy in a child and in a mouse model associated with defective development of photoreceptor cells. Disease models & mechanisms 17 (8) (2024)
Maria Carla Borroto, Coralie Michaud, Chloé Hudon, Pankaj B Agrawal, Katherine Agre, Carolyn D Applegate, Alan H Beggs, Hans T Bjornsson, Bert Callewaert, Mei-Jan Chen, Cynthia Curry, Orrin Devinsky, Tracy Dudding-Byth, Kelly Fagan, Candice R Finnila, Ralitza Gavrilova, Casie A Genetti, Susan M Hiatt, Friedhelm Hildebrandt, Monica Hsiung Wojcik, Tjitske Kleefstra, Caroline M Kolvenbach, Bruce R Korf, Paul S Kruszka, Hong Li, Jessica Litwin, Julien Marcadier, Konrad Platzer, Patrick R Blackburn, Margot R F Reijnders, Heiko Martin Reutter, Ina Schanze, Joseph T Shieh, Cathy A Stevens, Zaheer Valivullah, Marie-José H van den Boogaard, Eric W Klee, Philippe M Campeau
A Genotype/Phenotype Study of KDM5B -Associated Disorders Suggests a Pathogenic Effect of Dominantly Inherited Missense Variants. Genes 15 (8) (2024)
Frances O Flanagan, Alexander M Holtz, Sara O Vargas, Casie A Genetti, Klaus Schmitz-Abe, Alicia Casey, John C Kennedy, Benjamin A Raby, Mary P Mullen, Martha P Fishman, Pankaj B Agrawal
An intronic variant in TBX4 in a single family with variable and severe pulmonary manifestations. NPJ genomic medicine 8 (1) (2023)
Alissa M D'Gama, Pankaj B Agrawal
Genomic medicine in neonatal care: progress and challenges. European journal of human genetics : EJHG (2023)
Shiyu Luo, Bilal Alwattar, Qifei Li, Kiran Bora, Alexandra K Blomfield, Jasmine Lin, Anne Fulton, Jing Chen, Pankaj B Agrawal
Genetic deficiency of ribosomal rescue factor HBS1L causes retinal dystrophy associated with Pelota and EDF1 depletion. bioRxiv : the preprint server for biology (2023)
Sonia Hills, Qifei Li, Jill A Madden, Casie A Genetti, Catherine A Brownstein, Klaus Schmitz-Abe, Alan H Beggs, Pankaj B Agrawal
High number of candidate gene variants are identified as disease-causing in a period of 4 years. American journal of medical genetics. Part A 194 (5) (2023)
Qifei Li, Rohan Agrawal, Klaus Schmitz-Abe, Casie A Genetti, Melissa A Fernandes, Noah L Fryou, Jill A Madden, Catherine A Brownstein, Edward C Smith, Farrah Rajabi, Alan H Beggs, Pankaj B Agrawal
Reanalysis of clinical exome identifies the second variant in two individuals with recessive disorders. European journal of human genetics : EJHG (2023)
Frances O Flanagan, Alexander M Holtz, Sara O Vargas, Casie A Genetti, Klaus Schmitz-Abe, Alicia Casey, John C Kennedy, Benjamin A Raby, Mary P Mullen, Martha P Fishman, Pankaj B Agrawal
An intronic variant in TBX4 in a single family with variable and severe pulmonary manifestations. NPJ genomic medicine 8 (1) (2023)
Alissa M D'Gama, Pankaj B Agrawal
Role of genomic medicine and implementing equitable access for critically ill infants in neonatal intensive care units. Journal of perinatology : official journal of the California Perinatal Association (2023)
Alissa M D'Gama, Pankaj B Agrawal
Role of genomic medicine and implementing equitable access for critically ill infants in neonatal intensive care units. Journal of perinatology : official journal of the California Perinatal Association (2023)
Sonia Hills, Qifei Li, Jill A Madden, Casie A Genetti, Catherine A Brownstein, Klaus Schmitz-Abe, Alan H Beggs, Pankaj B Agrawal
High number of candidate gene variants are identified as disease-causing in a period of 4 years. American journal of medical genetics. Part A (2023)
Margaret A Hojlo, Merhawi Ghebrelul, Casie A Genetti, Richard Scott Smith, Shira Rockowitz, Emma Deaso, Alan H Beggs, Pankaj B Agrawal, David C Glahn, Joseph Gonzalez-Heydrich, Catherine A Brownstein
Children with Early-Onset Psychosis Have Increased Burden of Rare GRIN2A Variants. Genes 14 (4) (2023)
Margaret A Hojlo, Merhawi Ghebrelul, Casie A Genetti, Richard Scott Smith, Shira Rockowitz, Emma Deaso, Alan H Beggs, Pankaj B Agrawal, David C Glahn, Joseph Gonzalez-Heydrich, Catherine A Brownstein
Children with Early-Onset Psychosis Have Increased Burden of Rare GRIN2A Variants. Genes 14 (4) (2023)
Frances O Flanagan, Alexander M Holtz, Sara O Vargas, Casie A Genetti, Klaus Schmitz-Abe, Alicia Casey, John C Kennedy, Benjamin A Raby, Mary P Mullen, Martha P Fishman, Pankaj B Agrawal
An intronic variant in TBX4 in a single family with variable and severe pulmonary manifestations. NPJ genomic medicine 8 (1) (2023)
Alissa M D'Gama, Pankaj B Agrawal
Role of genomic medicine and implementing equitable access for critically ill infants in neonatal intensive care units. Journal of perinatology : official journal of the California Perinatal Association (2023)
Sonia Hills, Qifei Li, Jill A Madden, Casie A Genetti, Catherine A Brownstein, Klaus Schmitz-Abe, Alan H Beggs, Pankaj B Agrawal
High number of candidate gene variants are identified as disease-causing in a period of 4 years. American journal of medical genetics. Part A 194 (5) (2023)
Sonia Hills, Qifei Li, Jill A Madden, Casie A Genetti, Catherine A Brownstein, Klaus Schmitz-Abe, Alan H Beggs, Pankaj B Agrawal
High number of candidate gene variants are identified as disease-causing in a period of 4 years. American journal of medical genetics. Part A 194 (5) (2023)
Margaret A Hojlo, Merhawi Ghebrelul, Casie A Genetti, Richard Scott Smith, Shira Rockowitz, Emma Deaso, Alan H Beggs, Pankaj B Agrawal, David C Glahn, Joseph Gonzalez-Heydrich, Catherine A Brownstein
Children with Early-Onset Psychosis Have Increased Burden of Rare GRIN2A Variants. Genes 14 (4) (2023)
Margaret A Hojlo, Merhawi Ghebrelul, Casie A Genetti, Richard Scott Smith, Shira Rockowitz, Emma Deaso, Alan H Beggs, Pankaj B Agrawal, David C Glahn, Joseph Gonzalez-Heydrich, Catherine A Brownstein
Children with Early-Onset Psychosis Have Increased Burden of Rare GRIN2A Variants. Genes 14 (4) (2023)
Alissa M D'Gama, Pankaj B Agrawal
Role of genomic medicine and implementing equitable access for critically ill infants in neonatal intensive care units. Journal of perinatology : official journal of the California Perinatal Association (2023)
Alissa M D'Gama, Maya C Del Rosario, Mairead A Bresnahan, Timothy W Yu, Monica Hsiung Wojcik, Pankaj B Agrawal
Integrating rapid exome sequencing into NICU clinical care after a pilot research study. NPJ genomic medicine 7 (1) (2022)
Boxun Zhao, Jill A Madden, Jasmine Lin, Gerard T Berry, Monica H Wojcik, Xuefang Zhao, Harrison Brand, Michael E Talkowski, Eunjung Alice Lee, Pankaj B Agrawal
A neurodevelopmental disorder caused by a novel de novo SVA insertion in exon 13 of the SRCAP gene. European journal of human genetics : EJHG 30 (9) (2022)
Qifei Li, Michal Dibus, Alicia M H Casey, Christina S K Yee, Sara O Vargas, Shiyu Luo, Samantha M Rosen, Jill A Madden, Casie A Genetti, Jan Brabek, Catherine A Brownstein, Shideh Kazerounian, Benjamin A Raby, Klaus Schmitz-Abe, John C Kennedy, Martha P Fishman, Mary P Mullen, Joan M Taylor, Daniel Rosel, Pankaj B Agrawal
A homozygous stop-gain variant in ARHGAP42 is associated with childhood interstitial lung disease, systemic hypertension, and immunological findings. PLoS genetics 17 (7) (2021)
Jianqiao Li, Margaret A Hojlo, Sampath Chennuri, Nitin Gujral, Heather L Paterson, Kent A Shefchek, Casie A Genetti, Emily L Cohn, Kara C Sewalk, Emily A Garvey, Elizabeth D Buttermore, Nickesha C Anderson, Alan H Beggs, Pankaj B Agrawal, John S Brownstein, Melissa A Haendel, Ingrid A Holm, Joseph Gonzalez-Heydrich, Catherine A Brownstein
Underrepresentation of Phenotypic Variability of 16p13.11 Microduplication Syndrome Assessed With an Online Self-Phenotyping Tool (Phenotypr): Cohort Study. Journal of medical Internet research 23 (3) (2021)
Amy E O'Connell, Maxim V Gerashchenko, Marie-Françoise O'Donohue, Samantha M Rosen, Eric Huntzinger, Diane Gleeson, Antonella Galli, Edward J Ryder, Siqi Cao, Quinn Murphy, Shideh Kazerounian, Sarah U Morton, Klaus Schmitz-Abe, Vadim N Gladyshev, Pierre-Emmanuel Gleizes, Bertrand Séraphin, Pankaj B Agrawal
Mammalian Hbs1L deficiency causes congenital anomalies and developmental delay associated with Pelota depletion and 80S monosome accumulation. PLoS genetics 15 (2) (2019)
Ozge Ceyhan-Birsoy, Kalotina Machini, Matthew S Lebo, Timothy W Yu, Pankaj B Agrawal, Richard B Parad, Ingrid A Holm, Amy McGuire, Robert C Green, Alan H Beggs, Heidi L Rehm
A curated gene list for reporting results of newborn genomic sequencing. Genetics in medicine : official journal of the American College of Medical Genetics 19 (7) (2017)