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1. Identifying high-impact variants and genes in exomes of Ashkenazi Jewish inflammatory bowel disease patients.

Author

Wu, Yiming, Gettler, Kyle, Kars, Meltem, Giri, Mamta, Li, Dalin, Bayrak, Cigdem, Zhang, Peng, Jain, Aayushee, Maffucci, Patrick, Sabic, Ksenija, Van Vleck, Tielman, Nadkarni, Girish, Denson, Lee, Ostrer, Harry, Levine, Adam, Schiff, Elena, Segal, Anthony, Kugathasan, Subra, Stenson, Peter, Cooper, David, Philip Schumm, L, Snapper, Scott, Daly, Mark, Haritunians, Talin, Duerr, Richard, Silverberg, Mark, Rioux, John, Brant, Steven, McGovern, Dermot, Cho, Judy, and Itan, Yuval

Subjects
Adult, Humans, Jews, Exome, Inflammatory Bowel Diseases, Risk Assessment, Genetic Predisposition to Disease
Abstract

Inflammatory bowel disease (IBD) is a group of chronic digestive tract inflammatory conditions whose genetic etiology is still poorly understood. The incidence of IBD is particularly high among Ashkenazi Jews. Here, we identify 8 novel and plausible IBD-causing genes from the exomes of 4453 genetically identified Ashkenazi Jewish IBD cases (1734) and controls (2719). Various biological pathway analyses are performed, along with bulk and single-cell RNA sequencing, to demonstrate the likely physiological relatedness of the novel genes to IBD. Importantly, we demonstrate that the rare and high impact genetic architecture of Ashkenazi Jewish adult IBD displays significant overlap with very early onset-IBD genetics. Moreover, by performing biobank phenome-wide analyses, we find that IBD genes have pleiotropic effects that involve other immune responses. Finally, we show that polygenic risk score analyses based on genome-wide high impact variants have high power to predict IBD susceptibility.

Published
2023

2. Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome

Author

Aleshkevich, Svetlana, Allende, Luis M., Atkinson, T. Prescott, Atschekzei, Faranaz, Aydemir, Sezin, Aygunes, Utku, Barlogis, Vincent, Baumann, Ulrich, Belko, John, Bezrodnik, Liliana, Biebl, Ariane, Broderick, Lori, Bunin, Nancy J., Caldirola, Maria Soledad, Castelle, Martin, Celmeli, Fatih, Charbonnier, Louis-Marie, Chatila, Talal A., Chellapandian, Deepak, Cokugras, Haluk, Conlon, Niall, Cox, Fionnuala, Crickx, Etienne, Dalgic, Buket, ASH Dalm, Virgil, Danielian, Silvia, Dominguez-Pinilla, Nerea, Dujovny, Tal, Ebbo, Mikael, Eken, Ahmet, Esty, Brittany, Fabre, Alexandre, Fischer, Alain, Hannibal, Mark, Huppert, Laura, Ikeda, Marc D., Jolles, Stephen, Jolly, Kent W., Jones, Neil, Kanariou, Maria, Karakoc-Aydiner, Elif, Karamantziani, Theoni, Kelaidi, Charikleia, Keogan, Mary, Pac Kisaarslan, Ayşenur, Kiykim, Ayca, Klocperk, Adam, Kotsonis, Kosmas, Kuzmenko, Natalia, Leroy, Sylvie, Lianou, Dimitra, Longhurst, Hilary, Lorenz, Myriam Ricarda, Maffucci, Patrick, Manson, Ania, Marchal, Sarah, Malphettes, Marion, Marega, Lia Furlaneto, Mauracher, Andrea A., Meesilpavikai, Kornvalee, Miller, Holly, Mombourquette, Joy, Morgan, Noel G., Mukhina, Anna, Nathalie, Aladjidi, Nelken, Brigitte, Nolan, David, Norlin, Anna-Carin, Oleastro, Matias, Ozcan, Alper, Pasquet, Marlene, Pegler, José Roberto, Picard, Capucine, Polychronopoulou, Sophia, Quartier, Pierre, Quesada, Juan Francisco, Ramakers, Jan, Randall, Katrina L., Rao, V. Koneti, Remiker, Allison, Resin, Geraldine, Richmond, Peter, Rieux-Laucat, Frederic, Rodina, Yulia, Rohrlich, Pierre, Sachs, Johnathan, Sakovich, Inga, Santarlas, Christopher, Sari, Sinan, Sawicki, Gregory, Schauer, Uwe, Scheffler Mendoza, Selma C., Schvetz, Oksana, Schmidt, Reinhold Ernst, Schwarz, Klaus, Sediva, Anna, Sinclair, Kyle, Slatter, Mary, Sleasman, John, Stergiou, Katerina, Suratannon, Narissara, Tanita, Kay, Thompson, Grace, Travis, Stephen, Trojan, Timothy, Tsinti, Maria, Unal, Ekrem, Urdinez, Luciano, Vazquez-Gomez, Felisa, Villa, Mariana, Weinrich, Michael, Weiss, Mitchell J., Wright, Benjamin, Yilmaz, Ebru, Zachova, Radana, Zhang, Yu, Leiding, Jennifer W., Vogel, Tiphanie P., Santarlas, Valentine G.J., Mhaskar, Rahul, Smith, Madison R., Carisey, Alexandre, Vargas-Hernández, Alexander, Silva-Carmona, Manuel, Heeg, Maximilian, Rensing-Ehl, Anne, Neven, Bénédicte, Hadjadj, Jérôme, Hambleton, Sophie, Ronan Leahy, Timothy, Cunningham-Rundles, Charlotte, Dutmer, Cullen M., Sharapova, Svetlana O., Taskinen, Mervi, Chua, Ignatius, Hague, Rosie, Klemann, Christian, Kostyuchenko, Larysa, Morio, Tomohiro, Thatayatikom, Akaluck, Ozen, Ahmet, Scherbina, Anna, Bauer, Cindy S., Flanagan, Sarah E., Gambineri, Eleonora, Giovannini-Chami, Lisa, Heimall, Jennifer, Sullivan, Kathleen E., Allenspach, Eric, Romberg, Neil, Deane, Sean G., Prince, Benjamin T., Rose, Melissa J., Bohnsack, John, Mousallem, Talal, Jesudas, Rohith, Santos Vilela, Maria Marluce Dos, O’Sullivan, Michael, Pachlopnik Schmid, Jana, Průhová, Štěpánka, Rees, Matthew, Su, Helen, Bahna, Sami, Baris, Safa, Bartnikas, Lisa M., Chang Berger, Amy, Briggs, Tracy A., Brothers, Shannon, Bundy, Vanessa, Chan, Alice Y., Chandrakasan, Shanmuganathan, Christiansen, Mette, Cole, Theresa, Cook, Matthew C., Desai, Mukesh M., Fischer, Ute, Fulcher, David A., Gallo, Silvanna, Gauthier, Amelie, Gennery, Andrew R., Gonçalo Marques, José, Gottrand, Frédéric, Grimbacher, Bodo, Grunebaum, Eyal, Haapaniemi, Emma, Hämäläinen, Sari, Heiskanen, Kaarina, Heiskanen-Kosma, Tarja, Hoffman, Hal M., Gonzalez-Granado, Luis Ignacio, Guerrerio, Anthony L., Kainulainen, Leena, Kumar, Ashish, Lawrence, Monica G., Levin, Carina, Martelius, Timi, Neth, Olaf, Olbrich, Peter, Palma, Alejandro, Patel, Niraj C., Pozos, Tamara, Preece, Kahn, Lugo Reyes, Saúl Oswaldo, Russell, Mark A., Schejter, Yael, Seroogy, Christine, Sinclair, Jan, Skevofilax, Effie, Suan, Daniel, Suez, Daniel, Szabolcs, Paul, Velasco, Helena, Warnatz, Klaus, Walkovich, Kelly, Worth, Austen, Seppänen, Mikko R.J., Torgerson, Troy R., Sogkas, Georgios, Ehl, Stephan, Tangye, Stuart G., Cooper, Megan A., Milner, Joshua D., and Forbes Satter, Lisa R.

Published
2023
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4. Hyper IgM Syndrome: a Report from the USIDNET Registry.

Author

Leven, Emily, Maffucci, Patrick, Ochs, Hans, Scholl, Paul, Buckley, Rebecca, Fuleihan, Ramsay, Geha, Raif, Cunningham, Coleen, Bonilla, Francisco, Conley, Mary, Ferdman, Ronald, Hernandez-Trujillo, Vivian, Puck, Jennifer, Sullivan, Kathleen, Secord, Elizabeth, Ramesh, Manish, and Cunningham-Rundles, Charlotte

Subjects
CD40/CD40L, Hyper IgM Syndrome, Primary immune deficiency, USIDNET, Adolescent, Adult, CD40 Ligand, Child, Child, Preschool, Diarrhea, Female, Hematopoietic Stem Cell Transplantation, Humans, Hyper-IgM Immunodeficiency Syndrome, Male, Middle Aged, Mutation, Neutropenia, Registries, Survival Analysis, United States, Young Adult
Abstract

PURPOSE: The United States Immunodeficiency Network (USIDNET) patient registry was used to characterize the presentation, genetics, phenotypes, and treatment of patients with Hyper IgM Syndrome (HIGM). METHODS: The USIDNET Registry was queried for HIGM patient data collected from October 1992 to July 2015. Data fields included demographics, criteria for diagnosis, pedigree analysis, mutations, clinical features, treatment and transplant records, laboratory findings, and mortality. RESULTS: Fifty-two physicians entered data from 145 patients of ages 2 months to 62 years (median 12 years); 131 were males. Using patients age at last entry, data from 2072 patient years are included. Mutations were recorded for 85 subjects; 82 were in CD40LG. Eighteen subjects had non-X-linked HIGM. 40 % had a normal serum IgM and 15 %, normal IgA. Infections were reported for 91 %, with pulmonary, ear, and sinus infections being the most common. 42 % had Pneumocystis jirovecii pneumonia; 6 % had Cryptosporidium. 41 % had neutropenia. 78 % experienced non-infectious complications: chronic diarrhea (n = 22), aphthous ulcers (n = 28), and neoplasms (n = 8) including colon cancer, adrenal adenoma, liver adenocarcinoma, pancreatic carcinoid, acute myeloid leukemia, hepatoma, and, in a female with an autosomal dominant gain of function mutation in PIK3CD, an ovarian dysgerminoma. Thirteen patients had a hematopoietic marrow or stem cell transplant; three had solid organ transplants. Thirteen were known to have died (median age = 14 years). CONCLUSIONS: Analysis of the USIDNET Registry provides data on the common clinical features of this rare syndrome, and in contrast with previously published data, demonstrates longer survival times and reduced gastrointestinal manifestations.

Published
2016

5. Blacklisting variants common in private cohorts but not in public databases optimizes human exome analysis

Author

Maffucci, Patrick, Bigio, Benedetta, Rapaport, Franck, Cobat, Aurélie, Borghesi, Alessandro, Lopez, Marie, Patin, Etienne, Bolze, Alexandre, Shang, Lei, Bendavid, Matthieu, Scott, Eric M., Stenson, Peter D., Cunningham-Rundles, Charlotte, Cooper, David N., Gleeson, Joseph G., Fellay, Jacques, Quintana-Murci, Lluis, Casanova, Jean-Laurent, Abel, Laurent, Boisson, Bertrand, and Itan, Yuval

Published
2019

7. Human dissection for anesthesiology resident training augments anatomical knowledge and clinical skills.

Author

Maffucci, Patrick, Park, Chang H., Shirur, Mo, Hyers, Benjamin, Levine, Adam I., Katz, Daniel, Burnett, Garrett W., and Laitman, Jeffrey T.

Abstract

Anatomy is an essential component of clinical anesthesiology. The use of simulated patients and alternative materials, including embalmed human bodies, have become increasingly common during resident physician training due to the deemphasis on anatomical education during undergraduate medical training. In this report, the need for a more extensive review of relevant anatomy for the practice of anesthesiology was addressed by the design, evaluation, and dissemination of a human dissection course for procedural training of anesthesiology residents. The course utilized "freedom art" embalmed human bodies that allowed trainees to perform ultrasound‐based regional and neuraxial techniques followed by detailed dissections of critical anatomy. One hundred and four residents participated in workshops and small group discussions and were evaluated using pre‐ and post‐course assessments. A variety of clinical techniques were performed on the bodies, including regional blocks and neuraxial catheter placement. Insertion of peripheral/neuraxial catheters was successful, with dissections demonstrating the expected placement. Assessment scores improved following the course (pre‐course mean 52.7%, standard deviation (σ) 13.1%; post‐course mean 72.2%, σ 11.6%; t‐test p < 0.0001) and feedback highlighted the usefulness and clinical relevance of course content. The ability to correlate ultrasound imaging with subsequent dissections of the "blocked" area and visualization of dye staining was extremely relevant for spatial understanding of the anatomy relevant for the clinical practice of these techniques. This manuscript demonstrates successful implementation of a comprehensive course for anesthesiology resident physicians to address gaps in undergraduate anatomical education and suggests that broader adoption of dissection courses may be beneficial for training anesthesiologists. [ABSTRACT FROM AUTHOR]

Published
2024
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8. Biallelic mutations in DNA ligase 1 underlie a spectrum of immune deficiencies

Author

Maffucci, Patrick, Chavez, Jose, Jurkiw, Thomas J., O'Brien, Patrick J., Abbott, Jordan K., Reynolds, Paul R., Worth, Austen, Notarangelo, Luigi D., Felgentreff, Kerstin, Cortes, Patricia, Boisson, Bertrand, Radigan, Lin, Coba, Aurelie, Dinakar, Chitra, Ehlayel, Mohammad, Ben-Omran, Tawfeg, Gelfand, Erwin W., Casanova, Jean-Laurent, and Cunningham-Rundles, Charlotte

Subjects
Research, Usage, Genetic aspects, Gene mutation -- Research, Spectroscopy -- Usage, Immunologic diseases -- Genetic aspects, Gene expression -- Research
Abstract

IntroductionThe DNA ligase family is an evolutionarily conserved group of proteins found in both prokaryotic and eukaryotic cells that have previously been implicated in rare immune defects. Substrate dependence divides [...], We report the molecular, cellular, and clinical features of 5 patients from 3 kindreds with biallelic mutations in the autosomal LIG1 gene encoding DNA ligase 1. The patients exhibited hypogammaglobulinemia, lymphopenia, increased proportions of circulating [gamma][delta]T cells, and erythrocyte macrocytosis. Clinical severity ranged from a mild antibody deficiency to a combined immunodeficiency requiring hematopoietic stem cell transplantation. Using engineered LIG1-deficient cell lines, we demonstrated chemical and radiation defects associated with the mutant alleles, which variably impaired the DNA repair pathway. We further showed that these LIG1 mutant alleles are amorphic or hypomorphic, and exhibited variably decreased enzymatic activities, which lead to premature release of unligated adenylated DNA. The variability of the LIG1 genotypes in the patients was consistent with that of their immunological and clinical phenotypes. These data suggest that different forms of autosomal recessive, partial DNA ligase 1 deficiency underlie an immunodeficiency of variable severity.

Published
2018
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9. Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome

Author

Leiding, Jennifer W., primary, Vogel, Tiphanie P., additional, Santarlas, Valentine G.J., additional, Mhaskar, Rahul, additional, Smith, Madison R., additional, Carisey, Alexandre, additional, Vargas-Hernández, Alexander, additional, Silva-Carmona, Manuel, additional, Heeg, Maximilian, additional, Rensing-Ehl, Anne, additional, Neven, Bénédicte, additional, Hadjadj, Jérôme, additional, Hambleton, Sophie, additional, Ronan Leahy, Timothy, additional, Meesilpavikai, Kornvalee, additional, Cunningham-Rundles, Charlotte, additional, Dutmer, Cullen M., additional, Sharapova, Svetlana O., additional, Taskinen, Mervi, additional, Chua, Ignatius, additional, Hague, Rosie, additional, Klemann, Christian, additional, Kostyuchenko, Larysa, additional, Morio, Tomohiro, additional, Thatayatikom, Akaluck, additional, Ozen, Ahmet, additional, Scherbina, Anna, additional, Bauer, Cindy S., additional, Flanagan, Sarah E., additional, Gambineri, Eleonora, additional, Giovannini-Chami, Lisa, additional, Heimall, Jennifer, additional, Sullivan, Kathleen E., additional, Allenspach, Eric, additional, Romberg, Neil, additional, Deane, Sean G., additional, Prince, Benjamin T., additional, Rose, Melissa J., additional, Bohnsack, John, additional, Mousallem, Talal, additional, Jesudas, Rohith, additional, Santos Vilela, Maria Marluce Dos, additional, O’Sullivan, Michael, additional, Pachlopnik Schmid, Jana, additional, Průhová, Štěpánka, additional, Klocperk, Adam, additional, Rees, Matthew, additional, Su, Helen, additional, Bahna, Sami, additional, Baris, Safa, additional, Bartnikas, Lisa M., additional, Chang Berger, Amy, additional, Briggs, Tracy A., additional, Brothers, Shannon, additional, Bundy, Vanessa, additional, Chan, Alice Y., additional, Chandrakasan, Shanmuganathan, additional, Christiansen, Mette, additional, Cole, Theresa, additional, Cook, Matthew C., additional, Desai, Mukesh M., additional, Fischer, Ute, additional, Fulcher, David A., additional, Gallo, Silvanna, additional, Gauthier, Amelie, additional, Gennery, Andrew R., additional, Gonçalo Marques, José, additional, Gottrand, Frédéric, additional, Grimbacher, Bodo, additional, Grunebaum, Eyal, additional, Haapaniemi, Emma, additional, Hämäläinen, Sari, additional, Heiskanen, Kaarina, additional, Heiskanen-Kosma, Tarja, additional, Hoffman, Hal M., additional, Gonzalez-Granado, Luis Ignacio, additional, Guerrerio, Anthony L., additional, Kainulainen, Leena, additional, Kumar, Ashish, additional, Lawrence, Monica G., additional, Levin, Carina, additional, Martelius, Timi, additional, Neth, Olaf, additional, Olbrich, Peter, additional, Palma, Alejandro, additional, Patel, Niraj C., additional, Pozos, Tamara, additional, Preece, Kahn, additional, Lugo Reyes, Saúl Oswaldo, additional, Russell, Mark A., additional, Schejter, Yael, additional, Seroogy, Christine, additional, Sinclair, Jan, additional, Skevofilax, Effie, additional, Suan, Daniel, additional, Suez, Daniel, additional, Szabolcs, Paul, additional, Velasco, Helena, additional, Warnatz, Klaus, additional, Walkovich, Kelly, additional, Worth, Austen, additional, Seppänen, Mikko R.J., additional, Torgerson, Troy R., additional, Sogkas, Georgios, additional, Ehl, Stephan, additional, Tangye, Stuart G., additional, Cooper, Megan A., additional, Milner, Joshua D., additional, Forbes Satter, Lisa R., additional, Aleshkevich, Svetlana, additional, Allende, Luis M., additional, Atkinson, T. Prescott, additional, Atschekzei, Faranaz, additional, Aydemir, Sezin, additional, Aygunes, Utku, additional, Barlogis, Vincent, additional, Baumann, Ulrich, additional, Belko, John, additional, Bezrodnik, Liliana, additional, Biebl, Ariane, additional, Broderick, Lori, additional, Bunin, Nancy J., additional, Caldirola, Maria Soledad, additional, Castelle, Martin, additional, Celmeli, Fatih, additional, Charbonnier, Louis-Marie, additional, Chatila, Talal A., additional, Chellapandian, Deepak, additional, Cokugras, Haluk, additional, Conlon, Niall, additional, Cox, Fionnuala, additional, Crickx, Etienne, additional, Dalgic, Buket, additional, ASH Dalm, Virgil, additional, Danielian, Silvia, additional, Dominguez-Pinilla, Nerea, additional, Dujovny, Tal, additional, Ebbo, Mikael, additional, Eken, Ahmet, additional, Esty, Brittany, additional, Fabre, Alexandre, additional, Fischer, Alain, additional, Hannibal, Mark, additional, Huppert, Laura, additional, Ikeda, Marc D., additional, Jolles, Stephen, additional, Jolly, Kent W., additional, Jones, Neil, additional, Kanariou, Maria, additional, Karakoc-Aydiner, Elif, additional, Karamantziani, Theoni, additional, Kelaidi, Charikleia, additional, Keogan, Mary, additional, Pac Kisaarslan, Ayşenur, additional, Kiykim, Ayca, additional, Kotsonis, Kosmas, additional, Kuzmenko, Natalia, additional, Leroy, Sylvie, additional, Lianou, Dimitra, additional, Longhurst, Hilary, additional, Lorenz, Myriam Ricarda, additional, Maffucci, Patrick, additional, Manson, Ania, additional, Marchal, Sarah, additional, Malphettes, Marion, additional, Marega, Lia Furlaneto, additional, Mauracher, Andrea A., additional, Miller, Holly, additional, Mombourquette, Joy, additional, Morgan, Noel G., additional, Mukhina, Anna, additional, Nathalie, Aladjidi, additional, Nelken, Brigitte, additional, Nolan, David, additional, Norlin, Anna-Carin, additional, Oleastro, Matias, additional, Ozcan, Alper, additional, Pasquet, Marlene, additional, Pegler, José Roberto, additional, Picard, Capucine, additional, Polychronopoulou, Sophia, additional, Quartier, Pierre, additional, Quesada, Juan Francisco, additional, Ramakers, Jan, additional, Randall, Katrina L., additional, Rao, V. Koneti, additional, Remiker, Allison, additional, Resin, Geraldine, additional, Richmond, Peter, additional, Rieux-Laucat, Frederic, additional, Rodina, Yulia, additional, Rohrlich, Pierre, additional, Sachs, Johnathan, additional, Sakovich, Inga, additional, Santarlas, Christopher, additional, Sari, Sinan, additional, Sawicki, Gregory, additional, Schauer, Uwe, additional, Scheffler Mendoza, Selma C., additional, Schvetz, Oksana, additional, Schmidt, Reinhold Ernst, additional, Schwarz, Klaus, additional, Sediva, Anna, additional, Sinclair, Kyle, additional, Slatter, Mary, additional, Sleasman, John, additional, Stergiou, Katerina, additional, Suratannon, Narissara, additional, Tanita, Kay, additional, Thompson, Grace, additional, Travis, Stephen, additional, Trojan, Timothy, additional, Tsinti, Maria, additional, Unal, Ekrem, additional, Urdinez, Luciano, additional, Vazquez-Gomez, Felisa, additional, Villa, Mariana, additional, Weinrich, Michael, additional, Weiss, Mitchell J., additional, Wright, Benjamin, additional, Yilmaz, Ebru, additional, Zachova, Radana, additional, and Zhang, Yu, additional

Published
2023
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10. Laryngeal Injury After Endotracheal or Supraglottic Airway Placement

Author

Maffucci, Patrick, Demaria, Samuel, Laitman, Benjamin, and Levinson, Carrie

Subjects
Otolaryngology, Anesthesiology, Medical Specialties, Medicine and Health Sciences, Surgery
Abstract

Airway management is a critical component of intra-operative care of patients undergoing general anesthesia during surgical procedures. Typical airway access involves the placement of a supraglottic airway device, such as a laryngeal mask airway, or by endotracheal intubation. While rare, these devices have been associated with transient or permanent laryngeal injury. We aim to perform a scoping review of the current literature describing such laryngeal injuries in patients undergoing general anesthesia in the operating room setting.

Published
2023
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12. The use of simulation in liver transplantation anesthesiology fellowship training: A survey of fellowship program directors in the United States.

Author

Maffucci, Patrick, Smith, Natalie K., Zerillo, Jeron, Baron, Elvera, Katz, Daniel, and Burnett, Garrett W.

Subjects
*LIVER transplantation, *ANESTHESIOLOGY, *TRAINING of surgeons, *SCHOLARSHIPS, *SURGICAL education, *GRADUATE medical education
Abstract

Introduction: Liver transplantation surgeries are challenging cases for anesthesiologists. While intra‐operative teaching is paramount, simulation has emerged as an educational tool to augment clinical training. A variety of simulation modalities have been described in the literature, but no study has aimed to assess the use of simulation in liver transplantation fellowship training. Methods: A 20‐question survey detailing the use of simulation, including simulation modalities used and barriers to simulation use, was developed and distributed to 22 program directors for liver transplantation anesthesiology fellowships. An exploratory analysis was performed on multiple‐choice and free‐text responses. Results: Thirteen program directors completed the survey and were included in our analysis. Most programs (61.5%) did not report the use of simulation for liver transplantation fellow training. Of the programs that did use simulation, four required it as a mandatory component of their curriculum. Task trainers and screen‐based simulators were more commonly used by these programs. Faculty availability and interest, as well as a lack of an established curriculum, were cited as major limitations to simulation use. Conclusions: Simulation is an important component of anesthesiology trainee education, as evidenced by the requirement for simulation during residency by the American Council for Graduate Medical Education. Our findings suggest that simulation is an underutilized educational tool that we believe could greatly augment the training of liver transplantation anesthesiology fellows by providing exposure to a wide range of clinical challenges. [ABSTRACT FROM AUTHOR]

Published
2023
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13. Loss of B Cells in Patients with Heterozygous Mutations in IKAROS

Author

Kuehn, Hye Sun, Boisson, Bertrand, Cunningham-Rundles, Charlotte, Reichenbach, Janine, Stray-Pedersen, Asbjørg, Gelfand, Erwin W., Maffucci, Patrick, Pierce, Keith R., Abbott, Jordan K., Voelkerding, Karl V., South, Sarah T., Augustine, Nancy H., Bush, Jeana S., Dolen, William K., Wray, Betty B., Itan, Yuval, Cobat, Aurelie, Sorte, Hanne Sørmo, Ganesan, Sundar, Prader, Seraina, Martins, Thomas B., Lawrence, Monica G., Orange, Jordan S., Calvo, Katherine R., Niemela, Julie E., Casanova, Jean-Laurent, Fleisher, Thomas A., Hill, Harry R., Kumánovics, Attila, Conley, Mary Ellen, and Rosenzweig, Sergio D.

Published
2016
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14. Identifying novel high-impact rare disease-causing mutations, genes and pathways in exomes of Ashkenazi Jewish inflammatory bowel disease patients

Author

Wu, Yiming, primary, Gettler, Kyle, additional, Giri, Mamta, additional, Li, Dalin, additional, Bayrak, Cigdem Sevim, additional, Jain, Aayushee, additional, Maffucci, Patrick, additional, Sabic, Ksenija, additional, Vleck, Tielman Van, additional, Nadkarni, Girish, additional, Denson, Lee A., additional, Ostrer, Harry, additional, Kugathasan, Subra, additional, Stenson, Peter D., additional, Cooper, David N., additional, Schumm, L. Philip, additional, Snapper, Scott, additional, Daly, Mark J., additional, Haritunians, Talin, additional, Duerr, Richard H., additional, Silverberg, Mark S., additional, Rioux, John D., additional, Brant, Steven R., additional, McGovern, Dermot, additional, Cho, Judy H., additional, and Itan, Yuval, additional

Published
2020
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15. CDG: an online server proposing biologically closest disease-causing genes and pathologies and its application to primary immunodeficiency

Author

Requena, David, Maffucci, Patrick, Bigio, Benedetta, Shang, Lei, Abhyankar, Avinash, Boisson, Bertrand, Stenson, Peter D, Cooper, David N, Cunningham-Rundles, Charlotte, Casanova, Jean-Laurent, Abel, Laurent, and Itan, Yuval

Abstract

Summary: In analyses of exome data, candidate gene selection can be challenging in the absence of variants in known disease-causing genes. We calculated the putative biologically closest known disease-causing genes for 13,005 human genes not currently reported to be disease-causing. We used these data to construct the Closest Disease-Causing Genes (CDG) server, which can be used to infer the closest associated disease-causing genes and phenotypes for lists of candidate genes. This resource will be a considerable asset for ascertaining the poten-tial relevance of lists of genes to specific diseases of interest.

Published
2018

16. Blacklisting variants common in private cohorts but not in public databases optimizes human exome analysis

Author

Maffucci, Patrick, primary, Bigio, Benedetta, additional, Rapaport, Franck, additional, Cobat, Aurélie, additional, Borghesi, Alessandro, additional, Lopez, Marie, additional, Patin, Etienne, additional, Bolze, Alexandre, additional, Shang, Lei, additional, Bendavid, Matthieu, additional, Scott, Eric M., additional, Stenson, Peter D., additional, Cunningham-Rundles, Charlotte, additional, Cooper, David N., additional, Gleeson, Joseph G., additional, Fellay, Jacques, additional, Quintana-Murci, Lluis, additional, Casanova, Jean-Laurent, additional, Abel, Laurent, additional, Boisson, Bertrand, additional, and Itan, Yuval, additional

Published
2018
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17. CDG: An Online Server for Detecting Biologically Closest Disease-Causing Genes and its Application to Primary Immunodeficiency

Author

Requena, David, primary, Maffucci, Patrick, additional, Bigio, Benedetta, additional, Shang, Lei, additional, Abhyankar, Avinash, additional, Boisson, Bertrand, additional, Stenson, Peter D., additional, Cooper, David N., additional, Cunningham-Rundles, Charlotte, additional, Casanova, Jean-Laurent, additional, Abel, Laurent, additional, and Itan, Yuval, additional

Published
2018
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