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Multinational characterization of neurological phenotypes in patients hospitalized with COVID-19.

Trang T Le, Alba Gutiérrez-Sacristán, Jiyeon Son, Chuan Hong, Andrew M South, Brett K Beaulieu-Jones, Ne Hooi Will Loh, Yuan Luo, Michele Morris, Kee Yuan Ngiam, Lav P Patel, Malarkodi J Samayamuthu, Emily Schriver, Amelia L M Tan, Jason Moore, Tianxi Cai, Gilbert S Omenn, Paul Avillach, Isaac S Kohane, , Shyam Visweswaran, Danielle L Mowery, Zongqi Xia,

Neurological complications worsen outcomes in COVID-19. To define the prevalence of neurological conditions among hospitalized patients with a positive SARS-CoV-2 reverse transcription polymerase chain reaction test in geographically diverse multinational populations during early pandemic, we used electronic health records (EHR) from 338 participating hospitals across 6 countries and 3 continents ... Read more >>

Sci Rep (Scientific reports)
[2021, 11(1):20238]

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International Changes in COVID-19 Clinical Trajectories Across 315 Hospitals and 6 Countries: Retrospective Cohort Study.

Griffin M Weber, Harrison G Zhang, Sehi L'Yi, Clara-Lea Bonzel, Chuan Hong, Paul Avillach, Alba Gutiérrez-Sacristán, Nathan P Palmer, Amelia Li Min Tan, Xuan Wang, William Yuan, Nils Gehlenborg, Anna Alloni, Danilo F Amendola, Antonio Bellasi, Riccardo Bellazzi, Michele Beraghi, Mauro Bucalo, Luca Chiovato, Kelly Cho, Arianna Dagliati, Hossein Estiri, Robert W Follett, Noelia García Barrio, David A Hanauer, Darren W Henderson, Yuk-Lam Ho, John H Holmes, Meghan R Hutch, Ramakanth Kavuluru, Katie Kirchoff, Jeffrey G Klann, Ashok K Krishnamurthy, Trang T Le, Molei Liu, Ne Hooi Will Loh, Sara Lozano-Zahonero, Yuan Luo, Sarah Maidlow, Adeline Makoudjou, Alberto Malovini, Marcelo Roberto Martins, Bertrand Moal, Michele Morris, Danielle L Mowery, Shawn N Murphy, Antoine Neuraz, Kee Yuan Ngiam, Marina P Okoshi, Gilbert S Omenn, Lav P Patel, Miguel Pedrera Jiménez, Robson A Prudente, Malarkodi Jebathilagam Samayamuthu, Fernando J Sanz Vidorreta, Emily R Schriver, Petra Schubert, Pablo Serrano Balazote, Byorn Wl Tan, Suzana E Tanni, Valentina Tibollo, Shyam Visweswaran, Kavishwar B Wagholikar, Zongqi Xia, Daniela Zöller, , Isaac S Kohane, Tianxi Cai, Andrew M South, Gabriel A Brat,

<h4>Background</h4>Many countries have experienced 2 predominant waves of COVID-19-related hospitalizations. Comparing the clinical trajectories of patients hospitalized in separate waves of the pandemic enables further understanding of the evolving epidemiology, pathophysiology, and health care dynamics of the COVID-19 pandemic.<h4>Objective</h4>In this retrospective cohort study, we analyzed electronic health record (EHR) data ... Read more >>

J Med Internet Res (Journal of medical Internet research)
[2021, 23(10):e31400]

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Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease: A Randomized Clinical Trial.

, Ian D Krantz, Livija Medne, Jamila M Weatherly, K Taylor Wild, Sawona Biswas, Batsal Devkota, Tiffiney Hartman, Luca Brunelli, Kristen P Fishler, Omar Abdul-Rahman, Joshua C Euteneuer, Denise Hoover, David Dimmock, John Cleary, Lauge Farnaes, Jason Knight, Adam J Schwarz, Ofelia M Vargas-Shiraishi, Kristin Wigby, Neda Zadeh, Marwan Shinawi, Jennifer A Wambach, Dustin Baldridge, F Sessions Cole, Daniel J Wegner, Nora Urraca, Shannon Holtrop, Roya Mostafavi, Henry J Mroczkowski, Eniko K Pivnick, Jewell C Ward, Ajay Talati, Chester W Brown, John W Belmont, Julia L Ortega, Keisha D Robinson, W Tyler Brocklehurst, Denise L Perry, Subramanian S Ajay, R Tanner Hagelstrom, Maren Bennett, Vani Rajan, Ryan J Taft,

<h4>Importance</h4>Whole-genome sequencing (WGS) shows promise as a first-line genetic test for acutely ill infants, but widespread adoption and implementation requires evidence of an effect on clinical management.<h4>Objective</h4>To determine the effect of WGS on clinical management in a racially and ethnically diverse and geographically distributed population of acutely ill infants in ... Read more >>

JAMA Pediatr (JAMA pediatrics)
[2021, :]

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Evolving phenotypes of non-hospitalized patients that indicate long COVID.

Hossein Estiri, Zachary H Strasser, Gabriel A Brat, Yevgeniy R Semenov, , Chirag J Patel, Shawn N Murphy,

<h4>Background</h4>For some SARS-CoV-2 survivors, recovery from the acute phase of the infection has been grueling with lingering effects. Many of the symptoms characterized as the post-acute sequelae of COVID-19 (PASC) could have multiple causes or are similarly seen in non-COVID patients. Accurate identification of PASC phenotypes will be important to guide ... Read more >>

BMC Med (BMC medicine)
[2021, 19(1):249]

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50 Years Ago in TheJournalofPediatrics: I-Cell Disease: The More Things Change, the More They Stay the Same.

Sanmati Cuddapah, Ian D Krantz,

J Pediatr (The Journal of pediatrics)
[2021, 236:291]

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50 Years Ago in TheJournalofPediatrics: To Every Season Turner, Turner, Turner.

Louise C Pyle, Ian D Krantz,

J Pediatr (The Journal of pediatrics)
[2021, 235:115]

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Diversity, Equity, and Inclusion in The Journal of Pediatrics.

, Paul G Fisher, Sarah S Long, Conrad R Cole, Valeria C Cohran, Elena Fuentes-Afflick, Ian Krantz, K Casey Lion, Meghan McDevitt, Mary A Ott, Lainie Friedman Ross, Philip Toltzis, Reginald L Washington, Thomas R Welch, William F Balistreri,

J Pediatr (The Journal of pediatrics)
[2021, 236:4]

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Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss.

Mayher J Patel, Marina T DiStefano, Andrea M Oza, Madeline Y Hughes, Emma H Wilcox, Sarah E Hemphill, Brandon J Cushman, Andrew R Grant, Rebecca K Siegert, Jun Shen, Alex Chapin, Nicole J Boczek, Lisa A Schimmenti, Kiyomitsu Nara, Margaret Kenna, Hela Azaiez, Kevin T Booth, Karen B Avraham, Hannie Kremer, Andrew J Griffith, Heidi L Rehm, Sami S Amr, Ahmad N Abou Tayoun, ,

<h4>Purpose</h4>The ClinGen Variant Curation Expert Panels (VCEPs) provide disease-specific rules for accurate variant interpretation. Using the hearing loss-specific American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) guidelines, the Hearing Loss VCEP (HL VCEP) illustrates the utility of expert specifications in variant interpretation.<h4>Methods</h4>A total of 157 variants across ... Read more >>

Genet Med (Genetics in medicine : official journal of the American College of Medical Genetics)
[2021, 23(11):2208-2212]

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Audiologic Phenotype and Progression in Pediatric STRC-Related Autosomal Recessive Hearing Loss.

Andrea Simi, Julia Perry, Emma Schindler, Andrea Oza, Minjie Luo, Tiffiney Hartman, Ian D Krantz, John A Germiller, Kosuke Kawai, Margaret Kenna,

<h4>Objectives</h4>Sensorineural hearing loss (SNHL) is a common sensory deficit affecting pediatric populations. The majority of pediatric SNHL is genetic in etiology, with over 123 identified nonsyndromic causative genes. One such gene is STRC, which has been identified as the second most frequent autosomal recessive nonsyndromic gene associated with SNHL in ... Read more >>

Laryngoscope (The Laryngoscope)
[2021, 131(12):E2897-E2903]

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50 Years Ago in TheJournalofPediatrics: Multiple Lentigines Syndrome: Historical Perspective and Contributions of Dr David W. Smith.

Sarah E Sheppard, Ian D Krantz,

J Pediatr (The Journal of pediatrics)
[2021, 233:211]

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International Analysis of Electronic Health Records of Children and Youth Hospitalized With COVID-19 Infection in 6 Countries.

Florence T Bourgeois, Alba Gutiérrez-Sacristán, Mark S Keller, Molei Liu, Chuan Hong, Clara-Lea Bonzel, Amelia L M Tan, Bruce J Aronow, Martin Boeker, John Booth, Jaime Cruz Rojo, Batsal Devkota, Noelia García Barrio, Nils Gehlenborg, Alon Geva, David A Hanauer, Meghan R Hutch, Richard W Issitt, Jeffrey G Klann, Yuan Luo, Kenneth D Mandl, Chengsheng Mao, Bertrand Moal, Karyn L Moshal, Shawn N Murphy, Antoine Neuraz, Kee Yuan Ngiam, Gilbert S Omenn, Lav P Patel, Miguel Pedrera Jiménez, Neil J Sebire, Pablo Serrano Balazote, Arnaud Serret-Larmande, Andrew M South, Anastasia Spiridou, Deanne M Taylor, Patric Tippmann, Shyam Visweswaran, Griffin M Weber, Isaac S Kohane, Tianxi Cai, Paul Avillach, ,

<h4>Importance</h4>Additional sources of pediatric epidemiological and clinical data are needed to efficiently study COVID-19 in children and youth and inform infection prevention and clinical treatment of pediatric patients.<h4>Objective</h4>To describe international hospitalization trends and key epidemiological and clinical features of children and youth with COVID-19.<h4>Design, setting, and participants</h4>This retrospective cohort study ... Read more >>

JAMA Netw Open (JAMA network open)
[2021, 4(6):e2112596]

Cited: 5 times

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Genome-first approach to rare EYA4 variants and cardio-auditory phenotypes in adults.

Shadi Ahmadmehrabi, Binglan Li, Joseph Park, Batsal Devkota, Marijana Vujkovic, Yi-An Ko, David Van Wagoner, W H Wilson Tang, Ian Krantz, Marylyn Ritchie, , Jason Brant, Michael J Ruckenstein, Douglas J Epstein, Daniel J Rader,

While newborns and children with hearing loss are routinely offered genetic testing, adults are rarely clinically tested for a genetic etiology. One clinically actionable result from genetic testing in children is the discovery of variants in syndromic hearing loss genes. EYA4 is a known hearing loss gene which is also ... Read more >>

Hum Genet (Human genetics)
[2021, 140(6):957-967]

Cited: 2 times

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Ciliopathies: Coloring outside of the lines.

Alanna Strong, Dong Li, Frank Mentch, Emma Bedoukian, Erum A Hartung, Kevin Meyers, Cara Skraban, Jessica Wen, Livija Medne, Joseph Glessner, Deborah Watson, Ian Krantz, Hakon Hakonarson,

Ciliopathy syndromes are a diverse spectrum of disease characterized by a combination of cystic kidney disease, hepatobiliary disease, retinopathy, skeletal dysplasia, developmental delay, and brain malformations. Though generally divided into distinct disease categories based on the pattern of system involvement, ciliopathy syndromes are known to display certain phenotypic overlap. We ... Read more >>

Am J Med Genet A (American journal of medical genetics. Part A)
[2021, 185(3):687-694]

Cited: 2 times

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Alagille syndrome and risk for hepatocellular carcinoma: Need for increased surveillance in adults with mild liver phenotypes.

Emma A Schindler, Melissa A Gilbert, David A Piccoli, Nancy B Spinner, Ian D Krantz, Kathleen M Loomes,

Alagille syndrome (ALGS) is a multisystem autosomal dominant developmental disorder caused predominantly by pathogenic variants in JAGGED1 (JAG1), and also by pathogenic variants in NOTCH2 in a much smaller number of individuals. Clinical presentation is highly variable and includes liver, heart, eye, skeleton, and facial abnormalities, with a subset of ... Read more >>

Am J Med Genet A (American journal of medical genetics. Part A)
[2021, 185(3):719-731]

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Structural analysis of histone deacetylase 8 mutants associated with Cornelia de Lange Syndrome spectrum disorders.

Jeremy D Osko, Nicholas J Porter, Christophe Decroos, Matthew S Lee, Paris R Watson, Sarah E Raible, Ian D Krantz, Matthew A Deardorff, David W Christianson,

Cornelia de Lange Syndrome (CdLS) and associated spectrum disorders are characterized by one or more congenital anomalies including distinctive facial features, upper limb abnormalities, intellectual disability, and other symptoms. The molecular genetic basis of CdLS is linked to defects in cohesin, a protein complex that functions in sister chromatid cohesion, ... Read more >>

J Struct Biol (Journal of structural biology)
[2021, 213(1):107681]

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EP300-related Rubinstein-Taybi syndrome: Highlighted rare phenotypic findings and a genotype-phenotype meta-analysis of 74 patients.

Jennifer L Cohen, Samantha A Schrier Vergano, Sarah Mazzola, Alanna Strong, Beth Keena, Carey McDougall, Alyssa Ritter, Dong Li, Emma C Bedoukian, Leah W Burke, Amber Hoffman, Victoria Zurcher, Ian D Krantz, Kosuke Izumi, Elizabeth Bhoj, Elaine H Zackai, Matthew A Deardorff,

Pathogenic variants in the homologous and highly conserved genes-CREBBP and EP300-are causal for Rubinstein-Taybi syndrome (RSTS). CREBBP and EP300 encode histone acetyltransferases (HAT) that act as transcriptional co-activators, and their haploinsufficiency causes the pathology characteristic of RSTS by interfering with global transcriptional regulation. Though generally a well-characterized syndrome, there is ... Read more >>

Am J Med Genet A (American journal of medical genetics. Part A)
[2020, 182(12):2926-2938]

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Cornelia de Lange Syndrome

Matthew A Deardorff, Sarah E Noon, Ian D Krantz,

<h4>Clinical characteristics</h4>Cornelia de Lange syndrome (CdLS) encompasses a spectrum of findings from mild to severe. Severe (classic) CdLS is characterized by distinctive facial features, growth restriction (prenatal onset; <5th centile throughout life), hypertrichosis, and upper-limb reduction defects that range from subtle phalangeal abnormalities to oligodactyly (missing digits). Craniofacial features include ... Read more >>

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Genome sequencing increases diagnostic yield in clinically diagnosed Alagille syndrome patients with previously negative test results.

Ramakrishnan Rajagopalan, Melissa A Gilbert, Deborah A McEldrew, James A Nassur, Kathleen M Loomes, David A Piccoli, Ian D Krantz, Laura K Conlin, Nancy B Spinner,

<h4>Purpose</h4>Detection of all major classes of genomic variants in a single test would decrease cost and increase the efficiency of genomic diagnostics. Genome sequencing (GS) has the potential to provide this level of comprehensive detection. We sought to demonstrate the utility of GS in the molecular diagnosis of 18 patients ... Read more >>

Genet Med (Genetics in medicine : official journal of the American College of Medical Genetics)
[2021, 23(2):323-330]

Cited: 2 times

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International electronic health record-derived COVID-19 clinical course profiles: the 4CE consortium.

Gabriel A Brat, Griffin M Weber, Nils Gehlenborg, Paul Avillach, Nathan P Palmer, Luca Chiovato, James Cimino, Lemuel R Waitman, Gilbert S Omenn, Alberto Malovini, Jason H Moore, Brett K Beaulieu-Jones, Valentina Tibollo, Shawn N Murphy, Sehi L' Yi, Mark S Keller, Riccardo Bellazzi, David A Hanauer, Arnaud Serret-Larmande, Alba Gutierrez-Sacristan, John J Holmes, Douglas S Bell, Kenneth D Mandl, Robert W Follett, Jeffrey G Klann, Douglas A Murad, Luigia Scudeller, Mauro Bucalo, Katie Kirchoff, Jean Craig, Jihad Obeid, Vianney Jouhet, Romain Griffier, Sebastien Cossin, Bertrand Moal, Lav P Patel, Antonio Bellasi, Hans U Prokosch, Detlef Kraska, Piotr Sliz, Amelia L M Tan, Kee Yuan Ngiam, Alberto Zambelli, Danielle L Mowery, Emily Schiver, Batsal Devkota, Robert L Bradford, Mohamad Daniar, Christel Daniel, Vincent Benoit, Romain Bey, Nicolas Paris, Patricia Serre, Nina Orlova, Julien Dubiel, Martin Hilka, Anne Sophie Jannot, Stephane Breant, Judith Leblanc, Nicolas Griffon, Anita Burgun, Melodie Bernaux, Arnaud Sandrin, Elisa Salamanca, Sylvie Cormont, Thomas Ganslandt, Tobias Gradinger, Julien Champ, Martin Boeker, Patricia Martel, Loic Esteve, Alexandre Gramfort, Olivier Grisel, Damien Leprovost, Thomas Moreau, Gael Varoquaux, Jill-Jênn Vie, Demian Wassermann, Arthur Mensch, Charlotte Caucheteux, Christian Haverkamp, Guillaume Lemaitre, Silvano Bosari, Ian D Krantz, Andrew South, Tianxi Cai, Isaac S Kohane,

We leveraged the largely untapped resource of electronic health record data to address critical clinical and epidemiological questions about Coronavirus Disease 2019 (COVID-19). To do this, we formed an international consortium (4CE) of 96 hospitals across five countries (www.covidclinical.net). Contributors utilized the Informatics for Integrating Biology and the Bedside (i2b2) ... Read more >>

NPJ Digit Med (NPJ digital medicine)
[2020, 3:109]

Cited: 41 times

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De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay.

Lisenka E L M Vissers, Sreehari Kalvakuri, Elke de Boer, Sinje Geuer, Machteld Oud, Inge van Outersterp, Michael Kwint, Melde Witmond, Simone Kersten, Daniel L Polla, Dilys Weijers, Amber Begtrup, Kirsty McWalter, Anna Ruiz, Elisabeth Gabau, Jenny E V Morton, Christopher Griffith, Karin Weiss, Candace Gamble, James Bartley, Hilary J Vernon, Kendra Brunet, Claudia Ruivenkamp, Sarina G Kant, Paul Kruszka, Austin Larson, Alexandra Afenjar, Thierry Billette de Villemeur, Kimberly Nugent, , F Lucy Raymond, Hanka Venselaar, Florence Demurger, Claudia Soler-Alfonso, Dong Li, Elizabeth Bhoj, Ian Hayes, Nina Powell Hamilton, Ayesha Ahmad, Rachel Fisher, Myrthe van den Born, Marjolaine Willems, Arthur Sorlin, Julian Delanne, Sebastien Moutton, Philippe Christophe, Frederic Tran Mau-Them, Antonio Vitobello, Himanshu Goel, Lauren Massingham, Chanika Phornphutkul, Jennifer Schwab, Boris Keren, Perrine Charles, Maaike Vreeburg, Lenika De Simone, George Hoganson, Maria Iascone, Donatella Milani, Lucie Evenepoel, Nicole Revencu, D Isum Ward, Kaitlyn Burns, Ian Krantz, Sarah E Raible, Jill R Murrell, Kathleen Wood, Megan T Cho, Hans van Bokhoven, Maximilian Muenke, Tjitske Kleefstra, Rolf Bodmer, Arjan P M de Brouwer,

CNOT1 is a member of the CCR4-NOT complex, which is a master regulator, orchestrating gene expression, RNA deadenylation, and protein ubiquitination. We report on 39 individuals with heterozygous de novo CNOT1 variants, including missense, splice site, and nonsense variants, who present with a clinical spectrum of intellectual disability, motor delay, ... Read more >>

Am J Hum Genet (American journal of human genetics)
[2020, 107(1):164-172]

Cited: 5 times

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Partial rescue of neuronal genes deregulated in Cornelia de Lange Syndrome by cohesin

Felix Weiss, Lesly Calderon, Yi-Fang Wang, Radina Georgieva, Ya Guo, Nevena Cvetesic, Maninder Kaur, Gopuraja Dharmalingam, Ian Krantz, Boris Lenhard, Amanda Fisher, Matthias Merkenschlager,

Cornelia de Lange Syndrome (CdLS) is a human developmental disorder caused by mutations that compromise the function of cohesin, a major regulator of 3D genome organization. Cognitive impairment is a universal and as yet unexplained feature of CdLS. We characterized the transcriptional profile of cortical neurons from CdLS patients and ... Read more >>

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De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas.

Dara Tolchin, Jessica P Yeager, Priya Prasad, Naghmeh Dorrani, Alvaro Serrano Russi, Julian A Martinez-Agosto, Abdul Haseeb, Marco Angelozzi, G W E Santen, Claudia Ruivenkamp, Saadet Mercimek-Andrews, Christel Depienne, Alma Kuechler, Barbara Mikat, Hermann-Josef Ludecke, Frederic Bilan, Gwenael Le Guyader, Brigitte Gilbert-Dussardier, Boris Keren, Solveig Heide, Damien Haye, Hilde Van Esch, Liesbeth Keldermans, Damara Ortiz, Emily Lancaster, Ian D Krantz, Bryan L Krock, Kieran B Pechter, Alexandre Arkader, Livija Medne, Elizabeth T DeChene, Eduardo Calpena, Giada Melistaccio, Andrew O M Wilkie, Mohnish Suri, Nicola Foulds, , Amber Begtrup, Lindsay B Henderson, Cara Forster, Patrick Reed, Marie T McDonald, Allyn McConkie-Rosell, Julien Thevenon, Pauline Le Tanno, Charles Coutton, Anne C H Tsai, Sarah Stewart, Ales Maver, Rudolf Gorazd, Olivier Pichon, Mathilde Nizon, Benjamin Cogné, Bertrand Isidor, Dominique Martin-Coignard, Radka Stoeva, Véronique Lefebvre, Cédric Le Caignec,

SOX6 belongs to a family of 20 SRY-related HMG-box-containing (SOX) genes that encode transcription factors controlling cell fate and differentiation in many developmental and adult processes. For SOX6, these processes include, but are not limited to, neurogenesis and skeletogenesis. Variants in half of the SOX genes have been shown to ... Read more >>

Am J Hum Genet (American journal of human genetics)
[2020, 106(6):830-845]

Cited: 2 times

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International Electronic Health Record-Derived COVID-19 Clinical Course Profiles: The 4CE Consortium

Gabriel Brat, Griffin Weber, Nils Gehlenborg, Paul Avillach, Nathan Palmer, Luca Chiovato, James Cimino, Lemuel Waitman, Gilbert Omenn, Alberto Malovini, Jason Moore, Brett Beaulieu-Jones, Valentina Tibollo, Shawn Murphy, Sehi L’Yi, Mark Keller, Riccardo Bellazzi, David Hanauer, Arnaud Serret-Larmande, Alba Gutierrez-Sacristan, John Holmes, Douglas Bell, Kenneth Mandl, Robert Follett, Jeffrey Klann, Douglas Murad, Luigia Scudeller, Mauro Bucalo, Katie Kirchoff, Jean Craig, Jihad Obeid, Vianney Jouhet, Romain Griffier, Sebastien Cossin, Bertrand Moal, Lav Patel, Antonio Bellasi, Hans Prokosch, Detlef Kraska, Piotr Sliz, Amelia LM Tan, Kee Yuan Ngiam, Alberto Zambelli, Danielle Mowery, Emily Schiver, Batsal Devkota, Robert Bradford, Mohamad Daniar, Christel Daniel, Vincent Benoit, Romain Bey, Nicolas Paris, Patricia Serre, Nina Orlova, Julien Dubiel, Martin Hilka, Anne Sophie Jannot, Stéphane Bréant, Judith Leblanc, Nicolas Griffon, Anita Burgun, Melodie Bernaux, Arnaud Sandrin, Elisa Salamanca, Thomas Ganslandt, Tobias Gradinger, Julien Champ, Martin Boeker, Patricia Martel, Loic Esteve, Alexandre Gramfort, Olivier Grisel, Damien Leprovost, Thomas Moreau, Gael Varoquaux, Jill-Jenn Vie, Demian Wassermann, Arthur Mensch, Charlotte Caucheteux, Christian Haverkamp, Guillaume Lemaitre, Ian Krantz, Sylvie Cormont, Andrew South, Tianxi Cai, Isaac Kohane, , ,

<h4>ABSTRACT</h4> We leveraged the largely untapped resource of electronic health record data to address critical clinical and epidemiological questions about Coronavirus Disease 2019 (COVID-19). To do this, we formed an international consortium (4CE) of 96 hospitals across 5 countries ( www.covidclinical.net ). Contributors utilized the Informatics for Integrating Biology and ... Read more >>

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Correction: DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract.

Alexandria T M Blackburn, Nasim Bekheirnia, Vanessa C Uma, Mark E Corkins, Yuxiao Xu, Jill A Rosenfeld, Matthew N Bainbridge, Yaping Yang, Pengfei Liu, Suneeta Madan-Khetarpal, Mauricio R Delgado, Louanne Hudgins, Ian Krantz, David Rodriguez-Buritica, Patricia G Wheeler, Lihadh Al-Gazali, Aisha Mohamed Saeed Mohamed Al Shamsi, Natalia Gomez-Ospina, Hsiao-Tuan Chao, Ghayda M Mirzaa, Angela E Scheuerle, Mary K Kukolich, Fernando Scaglia, Christine Eng, Helen Rankin Willsey, Michael C Braun, Dolores J Lamb, Rachel K Miller, Mir Reza Bekheirnia,

An amendment to this paper has been published and can be accessed via a link at the top of the paper. ... Read more >>

Genet Med (Genetics in medicine : official journal of the American College of Medical Genetics)
[2020, 22(4):821]

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Perspective on the Development of a Large-Scale Clinical Data Repository for Pediatric Hearing Research.

Jeffrey W Pennington, Byron Ruth, Jeffrey M Miller, Joy Peterson, Baichen Xu, Aaron J Masino, Ian Krantz, Juliana Manganella, Tamar Gomes, Derek Stiles, Margaret Kenna, Linda J Hood, John Germiller, E Bryan Crenshaw,

The use of "big data" for pediatric hearing research requires new approaches to both data collection and research methods. The widespread deployment of electronic health record systems creates new opportunities and corresponding challenges in the secondary use of large volumes of audiological and medical data. Opportunities include cost-effective hypothesis generation, ... Read more >>

Ear Hear (Ear and hearing)
[2020, 41(2):231-238]

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