Tuğçe B. Balcı

hospital for sick children

H指数:19

被引数:1,891

个人简介

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教育背景

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工作经历

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荣誉奖项

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Understanding the decision of parents to opt-out of medically actionable secondary findings offered through genome sequencing

理解父母选择退出通过基因组测序提供的具有临床可操作性的次要发现的原因

Journal of Genetic Counseling

IF0

2026-05-050

OAAI

Hansen, Abigail; Luca, Stephanie; Moran, Olivia; Babul-Hirji, Riyana; Coe, Teresa B.; Wilk, Kalin; Assamad, Daniel; Fooks, Katharine; Venkataramanan, Viji; Shickh, Salma; Yan, Joyce; Wu, Vercancy; Badalato, Lauren; Balci, Tugce B.; Ladouceur, Virginie Beausejour; Chad, Lauren; Chisholm, Caitlin; Gillespie, Meredith K.; Huang, Lijia; Jarinova, Olga; Lau, Lynette; Lee, Whiwon; Mackley, Michael P.; Marshall, Christian R.; Mendoza-Londono, Roberto; Morel, Chantal F.; Richer, Julie; Sawyer, Sarah; Stavropoulos, Dimitrios James; Szuto, Anna; Tarnopolsky, Mark; Villani, Anita; Zahavich, Laura; Somerville, Martin J.; Boycott, Kym M.; Ungar, Wendy J.; Hayeems, Robin Z.

Glutamine missense suppressor transfer RNAs inhibit polyglutamine aggregation

MOLECULAR THERAPY NUCLEIC ACIDS

IF6.1

2025-03-010

OAAI

Sexual dimorphism in SMAD3 pathogenic variant-harbouring individuals

JOURNAL OF MEDICAL GENETICS

IF3.7

2025-01-020

PRE

Identification of a DNA methylation episignature for recurrent constellations of embryonic malformations

鉴定胚胎畸形复发星座的DNA甲基化epi签名

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2024-08-011

PRE

Haghshenas, Sadegheh; Karimi, Karim; Stevenson, Roger E.; Levy, Michael A.; Relator, Raissa; Kerkhof, Jennifer; Rzasa, Jessica; McConkey, Haley; Lauzon-Young, Carolyn; Balci, Tugce B.; White-Brown, Alexandre M.; Carter, Melissa T.; Richer, Julie; Armour, Christine M.; Sawyer, Sarah L.; Bhola, Priya T.; Tedder, Matthew L.; Skinner, Cindy D.; van Rooij, Iris A. L. M.; van de Putte, Romy; de Blaauw, Ivo; Koeck, Rebekka M.; Hoischen, Alexander; Brunner, Han; Esteki, Masoud Zamani; Pelet, Anna; Lyonnet, Stanislas; Amiel, Jeanne; Boycott, Kym M.; Sadikovic, Bekim

Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals (vol 3, 2024, 59)

更正: 神经发育和神经退行性疾病Bryant-li-bhoj综合征的扩展表型谱与38个额外的个体 (第3卷，2024，59)

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

2024-07-260

OAAI

Layo-Carris, Dana E.; Lubin, Emily E.; Sangree, Annabel K.; Clark, Kelly J.; Durham, Emily L.; Gonzalez, Elizabeth M.; Smith, Sarina; Angireddy, Rajesh; Wang, Xiao Min; Weiss, Erin; Toutain, Annick; Mendoza-Londono, Roberto; Dupuis, Lucie; Damseh, Nadirah; Velasco, Danita; Valenzuela, Irene; Codina-Sola, Marta; Ziats, Catherine; Have, Jaclyn; Clarkson, Katie; Steel, Dora; Kurian, Manju; Barwick, Katy; Carrasco, Diana; Dagli, Aditi I.; Nowaczyk, M. J. M.; Hancarova, Miroslava; Bendova, Sarka; Prchalova, Darina; Sedlacek, Zdenek; Baxova, Alica; Nowak, Catherine Bearce; Douglas, Jessica; Chung, Wendy K.; Longo, Nicola; Platzer, Konrad; Klockner, Chiara; Averdunk, Luisa; Wieczorek, Dagmar; Krey, Ilona; Zweier, Christiane; Reis, Andre; Balci, Tugce; Simon, Marleen; Kroes, Hester Y.; Wiesener, Antje; Vasileiou, Georgia; Marinakis, Nikolaos M.; Veltra, Danai; Sofocleous, Christalena; Kosma, Konstantina; Synodinos, Joanne Traeger; Voudris, Konstantinos A.; Vuillaume, Marie-Laure; Gueguen, Paul; Derive, Nicolas; Colin, Estelle; Battault, Clarisse; Au, Billie; Delatycki, Martin; Wallis, Mathew; Gallacher, Lyndon; Majdoub, Fatma; Smal, Noor; Weckhuysen, Sarah; Schoonjans, An-Sofie; Kooy, R. Frank; Meuwissen, Marije; Cocanougher, Benjamin T.; Taylor, Kathryn; Pizoli, Carolyn E.; Mcdonald, Marie T.; James, Philip; Roeder, Elizabeth R.; Littlejohn, Rebecca; Borja, Nicholas A.; Thorson, Willa; King, Kristine; Stoeva, Radka; Suerink, Manon; Nibbeling, Esther; Baskin, Stephanie; Guyader, Gwenael L. E.; Kaplan, Julie; Muss, Candace; Carere, Deanna Alexis; Bhoj, Elizabeth J. K.; Bryant, Laura M.

Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

2024-04-273

OAAI

Layo-Carris, Dana E.; Lubin, Emily E.; Sangree, Annabel K.; Clark, Kelly J.; Durham, Emily L.; Gonzalez, Elizabeth M.; Smith, Sarina; Angireddy, Rajesh; Wang, Xiao Min; Weiss, Erin; Toutain, Annick; Mendoza-Londono, Roberto; Dupuis, Lucie; Damseh, Nadirah; Velasco, Danita; Valenzuela, Irene; Codina-Sola, Marta; Ziats, Catherine; Have, Jaclyn; Clarkson, Katie; Steel, Dora; Kurian, Manju; Barwick, Katy; Carrasco, Diana; Dagli, Aditi I.; Nowaczyk, M. J. M.; Hancarova, Miroslava; Bendova, Sarka; Prchalova, Darina; Sedlacek, Zdenek; Baxova, Alica; Nowak, Catherine Bearce; Douglas, Jessica; Chung, Wendy K.; Longo, Nicola; Platzer, Konrad; Kloeckner, Chiara; Averdunk, Luisa; Wieczorek, Dagmar; Krey, Ilona; Zweier, Christiane; Reis, Andre; Balci, Tugce; Simon, Marleen; Kroes, Hester Y.; Wiesener, Antje; Vasileiou, Georgia; Marinakis, Nikolaos M.; Veltra, Danai; Sofocleous, Christalena; Kosma, Konstantina; Synodinos, Joanne Traeger; Voudris, Konstantinos A.; Vuillaume, Marie-Laure; Gueguen, Paul; Derive, Nicolas; Colin, Estelle; Battault, Clarisse; Au, Billie; Delatycki, Martin; Wallis, Mathew; Gallacher, Lyndon; Majdoub, Fatma; Smal, Noor; Weckhuysen, Sarah; Schoonjans, An-Sofie; Kooy, R. Frank; Meuwissen, Marije; Cocanougher, Benjamin T.; Taylor, Kathryn; Pizoli, Carolyn E.; McDonald, Marie T.; James, Philip; Roeder, Elizabeth R.; Littlejohn, Rebecca; Borja, Nicholas A.; Thorson, Willa; King, Kristine; Stoeva, Radka; Suerink, Manon; Nibbeling, Esther; Baskin, Stephanie; Guyader, Gwenael L. E.; Kaplan, Julie; Muss, Candace; Carere, Deanna Alexis; Bhoj, Elizabeth J. K.; Bryant, Laura M.

Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study

GENETICS IN MEDICINE

IF6.2

2024-02-010

PRE

Hartley, Taila; Marshall, Deborah; Acker, Meryl; Fooks, Katharine; Gillespie, Meredith K.; Price, E. Magda; Graham, Ian D.; White-Brown, Alexandre; MacKay, Layla; Macdonald, Stella K.; Brady, Lauren; Hui, Angela Y.; Andrews, Joseph D.; Chowdhury, Ashfia; Wall, Erika; Soubry, Elisabeth; Ediae, Grace U.; Rojas, Samantha; Assamad, Daniel; Dyment, David; Tarnopolsky, Mark; Sawyer, Sarah L.; Chisholm, Caitlin; Lemire, Gabrielle; Amburgey, Kimberly; Lazier, Joanna; Mendoza-Londono, Roberto; Dowling, James J.; Balci, Tugce B.; Armour, Christine M.; Bhola, Priya T.; Costain, Gregory; Dupuis, Lucie; Carter, Melissa; Badalato, Lauren; Richer, Julie; Boswell-Patterson, Christie; Kannu, Peter; Cordeiro, Dawn; Warman-Chardon, Jodi; Graham, Gail; Siu, Victoria Mok; Cytrynbaum, Cheryl; Rusnak, Alison; Aul, Ritu B.; Yoon, Grace; Gonorazky, Hernan; McNiven, Vanda; Mercimek-Andrews, Saadet; Guerin, Andrea; Deshwar, Ashish R.; Marwaha, Ashish; Weksberg, Rosanna; Karp, Natalya; Campbell, Maggie; Al-Qattan, Sarah; Shuen, Andrew Y.; Inbar-Feigenberg, Michal; Cohn, Ronald; Szuto, Anna; Inglese, Cara; Poirier, Myriam; Chad, Lauren; Potter, Beth; Boycott, Kym M.; Hayeems, Robin

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

剪接体功能异常导致具有重叠特征的神经发育障碍

JOURNAL OF CLINICAL INVESTIGATION

IF13.6

2024-01-026

OAAI

Li, Dong; Wang, Qin; Bayat, Allan; Battig, Mark R.; Zhou, Yijing; Bosch, Danielle G. M.; van Haaften, Gijs; Granger, Leslie; Petersen, Andrea K.; Perez-Jurado, Luis A.; Aznar-Lain, Gemma; Aneja, Anushree; Hancarova, Miroslava; Bendova, Sarka; Schwarz, Martin; Pourova, Radka Kremlikova; Sedlacek, Zdenek; Keena, Beth A.; March, Michael E.; Hou, Cuiping; O'Connor, Nora; Bhoj, Elizabeth J.; Harr, Margaret H.; Lemire, Gabrielle; Boycott, Kym M.; Towne, Meghan; Li, Megan; Tarnopolsky, Mark; Brady, Lauren; Parker, Michael J.; Faghfoury, Hanna; Parsley, Lea Kristin; Agolini, Emanuele; Dentici, Maria Lisa; Novelli, Antonio; Wright, Meredith; Palmquist, Rachel; Lai, Khanh; Scala, Marcello; Striano, Pasquale; Iacomino, Michele; Zara, Federico; Cooper, Annina; Maarup, Timothy J.; Byler, Melissa; Lebel, Robert Roger; Balci, Tugce B.; Louie, Raymond; Lyons, Michael; Douglas, Jessica; Nowak, Catherine; Afenjar, Alexandra; Hoyer, Juliane; Keren, Boris; Maas, Saskia M.; Motazacker, Mahdi M.; Martinez-Agosto, Julian A.; Rabani, Ahna M.; McCormick, Elizabeth M.; Falk, Marni J.; Ruggiero, Sarah M.; Helbig, Ingo; Moller, Rikke S.; Tessarollo, Lino; Ardori, Francesco Tomassoni; Palko, Mary Ellen; Hsieh, Tzung-Chien; Krawitz, Peter M.; Ganapathi, Mythily; Gelb, Bruce D.; Jobanputra, Vaidehi; Wilson, Ashley; Greally, John; Jacquemont, Sebastien; Jizi, Khadije; Bruel, Ange-Line; Quelin, Chloe; Misra, Vinod K.; Chick, Erika; Romano, Corrado; Greco, Donatella; Arena, Alessia; Morleo, Manuela; Nigro, Vincenzo; Seyama, Rie; Uchiyama, Yuri; Matsumoto, Naomichi; Taira, Ryoji; Tashiro, Katsuya; Sakai, Yasunari; Yigit, Gokhan; Wollnik, Bernd; Wagner, Michael; Kutsche, Barbara; Hurst, Anna C. E.; Thompson, Michelle L.; Schmidt, Ryan; Randolph, Linda; Spillmann, Rebecca C.; Shashi, Vandana; Higginbotham, Edward J.; Cordeiro, Dawn; Carnevale, Amanda; Costain, Gregory; Khan, Tayyaba; Funalot, Benoit; Mau-Them, Frederic Tran; Moya, Luis Fernandez Garcia; Garcia-Minaur, Sixto; Osmond, Matthew; Chad, Lauren; Quercia, Nada; Carrasco, Diana; Li, Chumei; Sanchez-Valle, Amarilis; Kelley, Meghan; Nizon, Mathilde; Jensson, Brynjar O.; Sulem, Patrick; Stefansson, Kari; Gorokhova, Svetlana; Busa, Tiffany; Rio, Marlene; Habdallah, Hamza Hadj; Lesieur-Sebellin, Marion; Amiel, Jeanne; Pingault, Veronique; Mercier, Sandra; Vincent, Marie; Philippe, Christophe; Fatus-Fauconnier, Clemence; Friend, Kathryn; Halligan, Rebecca K.; Biswas, Sunita; Rosser, Jane; Shoubridge, Cheryl; Corbett, Mark; Barnett, Christopher; Gecz, Jozef; Leppig, Kathleen; Slavotinek, Anne; Marcelis, Carlo; Pfundt, Rolph; de Vries, Bert B. A.; van Slegtenhorst, Marjon A.; Brooks, Alice S.; Cogne, Benjamin; Rambaud, Thomas; Tumer, Zeynep; Zackai, Elaine H.; Akizu, Naiara; Song, Yuanquan; Hakonarson, Hakon

Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individuals

GENETICS IN MEDICINE

IF6.2

2024-01-012

PRE

Sabbagh, Quentin; Haghshenas, Sadegheh; Piard, Juliette; Trouve, Chloe; Amiel, Jeanne; Attie-Bitach, Tania; Balci, Tugce; Barat-Houari, Mouna; Belonis, Alyce; Boute, Odile; Brightman, Diana S.; Bruel, Ange-Line; Caraffi, Stefano Giuseppe; Chatron, Nicolas; Collet, Corinne; Dufour, William; Edery, Patrick; Fong, Chin-To; Fusco, Carlo; Gatinois, Vincent; Gouy, Evan; Guerrot, Anne-Marie; Heide, Solveig; Joshi, Aakash; Karp, Natalya; Keren, Boris; Lesieur-Sebellin, Marion; Levy, Jonathan; Levy, Michael A.; Lozano, Claire; Lyonnet, Stanislas; Margot, Henri; Marzin, Pauline; Mcconkey, Haley; Michaud, Vincent; Nicolas, Gael; Nizard, Mevyn; Paulet, Alix; Peluso, Francesca; Pernin, Vincent; Perrin, Laurence; Philippe, Christophe; Prasad, Chitra; Prasad, Madhavi; Relator, Raissa; Rio, Marlene; Rondeau, Sophie; Ruault, Valentin; Ruiz-Pallares, Nathalie; Sanchez, Elodie; Shears, Debbie; Siu, Victoria Mok; Sorlin, Arthur; Tedder, Matthew; Tharreau, Mylene; Mau-Them, Frederic Tran; Laan, Liselot van der; Van Gils, Julien; Verloes, Alain; Whalen, Sandra; Willems, Marjolaine; Yauy, Kevin; Zuntini, Roberta; Kerkhof, Jennifer; Sadikovic, Bekim; Genevieve, David

SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis

SLC6A1变异致病性、分子功能和表型: 遗传和临床分析

BRAIN

IF11.7

2023-08-304

OAAI

Stefanski, Arthur; Perez-Palma, Eduardo; Bruenger, Tobias; Montanucci, Ludovica; Gati, Cornelius; Kloeckner, Chiara; Johannesen, Katrine M.; Goodspeed, Kimberly; Macnee, Marie; Deng, Alexander T.; Aledo-Serrano, Angel; Borovikov, Artem; Kava, Maina; Bouman, Arjan M.; Hajianpour, M. J.; Pal, Deb K.; Engelen, Marc; Hagebeuk, Eveline E. O.; Shinawi, Marwan; Heidlebaugh, Alexis R.; Oetjens, Kathryn; Hoffman, Trevor L.; Striano, Pasquale; Freed, Amanda S.; Futtrup, Line; Balslev, Thomas; Abuli, Anna; Danvoye, Leslie; Lederer, Damien; Balci, Tugce; Nouri, Maryam Nabavi; Butler, Elizabeth; Drewes, Sarah; van Engelen, Kalene; Howell, Katherine B.; Khoury, Jean; May, Patrick; Trinidad, Marena; Froelich, Steven; Lemke, Johannes R.; Tiller, Jacob; Freed, Amber N.; Kang, Jing-Qiong; Wuster, Arthur; Moller, Rikke S.; Lal, Dennis

Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

2023-05-155

OAAI

Sczakiel, Henrike L.; Zhao, Max; Wollert-Wulf, Brigitte; Danyel, Magdalena; Ehmke, Nadja; Stoltenburg, Corinna; Damseh, Nadirah; Al-Ashhab, Motee; Balci, Tugce B.; Osmond, Matthew; Andrade, Andrea; Schallner, Jens; Porrmann, Joseph; McDonald, Kimberly; Liao, Mingjuan; Oppermann, Henry; Platzer, Konrad; Dierksen, Nadine; Mojarrad, Majid; Eslahi, Atieh; Bakaeean, Behnaz; Calame, Daniel G.; Lupski, James R.; Firoozfar, Zahra; Seyedhassani, Seyed Mohammad; Mohammadi, Seyed Ahmad; Anwaar, Najwa; Rahman, Fatima; Seelow, Dominik; Janz, Martin; Horn, Denise; Maroofian, Reza; Boschann, Felix

Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders

遗传性神经发育障碍全基因组DNA甲基化谱的功能相关性

HUMAN MUTATION

IF3.7

2022-08-2146

Levy, Michael A.; Relator, Raissa; McConkey, Haley; Pranckeviciene, Erinija; Kerkhof, Jennifer; Barat-Houari, Mouna; Bargiacchi, Sara; Biamino, Elisa; Bralo, Maria Palomares; Cappuccio, Gerarda; Ciolfi, Andrea; Clarke, Angus; DuPont, Barbara R.; Elting, Mariet W.; Faivre, Laurence; Fee, Timothy; Ferilli, Marco; Fletcher, Robin S.; Cherick, Florian; Foroutan, Aidin; Friez, Michael J.; Gervasini, Cristina; Haghshenas, Sadegheh; Hilton, Benjamin A.; Jenkins, Zandra; Kaur, Simranpreet; Lewis, Suzanne; Louie, Raymond J.; Maitz, Silvia; Milani, Donatella; Morgan, Angela T.; Oegema, Renske; Ostergaard, Elsebet; Pallares, Nathalie R.; Piccione, Maria; Plomp, Astrid S.; Poulton, Cathryn; Reilly, Jack; Rius, Rocio; Robertson, Stephen; Rooney, Kathleen; Rousseau, Justine; Santen, Gijs W. E.; Santos-Simarro, Fernando; Schijns, Josephine; Squeo, Gabriella M.; St John, Miya; Thauvin-Robinet, Christel; Traficante, Giovanna; van der Sluijs, Pleuntje J.; Vergano, Samantha A.; Vos, Niels; Walden, Kellie K.; Azmanov, Dimitar; Balci, Tugce B.; Banka, Siddharth; Gecz, Jozef; Henneman, Peter; Lee, Jennifer A.; Mannens, Marcel M. A. M.; Roscioli, Tony; Siu, Victoria; Amor, David J.; Baynam, Gareth; Bend, Eric G.; Boycott, Kym; Brunetti-Pierri, Nicola; Campeau, Philippe M.; Campion, Dominique; Christodoulou, John; Dyment, David; Esber, Natacha; Fahrner, Jill A.; Fleming, Mark D.; Genevieve, David; Heron, Delphine; Husson, Thomas; Kernohan, Kristin D.; McNeill, Alisdair; Menke, Leonie A.; Merla, Giuseppe; Prontera, Paolo; Rockman-Greenberg, Cheryl; Schwartz, Charles; Skinner, Steven A.; Stevenson, Roger E.; Vincent, Marie; Vitobello, Antonio; Tartaglia, Marco; Alders, Marielle; Tedder, Matthew L.; Sadikovic, Bekim

Brain Abnormalities in Patients with Germline Variants in H3F3: Novel Imaging Findings and Neurologic Symptoms Beyond Somatic Variants and Brain Tumors

AMERICAN JOURNAL OF NEURORADIOLOGY

IF3.7

2022-06-303

Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders

新的诊断性DNA甲基化表观特征扩展并完善了孟德尔疾病的表观遗传景观

HUMAN GENETICS AND GENOMICS ADVANCES

IF3.6

2022-01-01106

OAAI

Levy, Michael A.; McConkey, Haley; Kerkhof, Jennifer; Barat-Houari, Mouna; Bargiacchi, Sara; Biamino, Elisa; Cappuccio, Gerarda; Ciolfi, Andrea; Clarke, Angus; DuPont, Barbara R.; Elting, Mariet W.; Faivre, Laurence; Fee, Timothy; Fletcher, Robin S.; Cherik, Florian; Foroutan, Aidin; Friez, Michael J.; Gervasini, Cristina; Haghshenas, Sadegheh; Hilton, Benjamin A.; Jenkins, Zandra; Kaur, Simranpreet; Lewis, Suzanne; Louie, Raymond J.; Maitz, Silvia; Milani, Donatella; Morgan, Angela T.; Oegema, Renske; Ostergaard, Elsebet; Pallares, Nathalie Ruiz; Piccione, Maria; Pizzi, Simone; Plomp, Astrid S.; Poulton, Cathryn; Reilly, Jack; Relator, Raissa; Rius, Rocio; Robertson, Stephen; Rooney, Kathleen; Rousseau, Justine; Santen, Gijs W. E.; Santos-Simarro, Fernando; Schijns, Josephine; Squeo, Gabriella Maria; St John, Miya; Thauvin-Robinet, Christel; Traficante, Giovanna; van der Sluijs, Pleuntje J.; Vergano, Samantha A.; Vos, Niels; Walden, Kellie K.; Azmanov, Dimitar; Balci, Tugce; Banka, Siddharth; Gecz, Jozef; Henneman, Peter; Lee, Jennifer A.; Mannens, Marcel M. A. M.; Roscioli, Tony; Siu, Victoria; Amor, David J.; Baynam, Gareth; Bend, Eric G.; Boycott, Kym; Brunetti-Pierri, Nicola; Campeau, Philippe M.; Christodoulou, John; Dyment, David; Esber, Natacha; Fahrner, Jill A.; Fleming, Mark D.; Genevieve, David; Kerrnohan, Kristin D.; McNeill, Alisdair; Menke, Leonie A.; Merla, Giuseppe; Prontera, Paolo; Rockman-Greenberg, Cheryl; Schwartz, Charles; Skinner, Steven A.; Stevenson, Roger E.; Vitobello, Antonio; Tartaglia, Marco; Alders, Marielle; Tedder, Matthew L.; Sadikovic, Bekim

Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders (Feb, 10.1038/s41436-020-01096-4, 2021)

GENETICS IN MEDICINE

IF6.2

2021-11-013

OAAI

Sadikovic, Bekim; Levy, Michael A.; Kerkhof, Jennifer; Aref-Eshghi, Erfan; Schenkel, Laila; Stuart, Alan; McConkey, Haley; Henneman, Peter; Venema, Andrea; Schwartz, Charles E.; Stevenson, Roger E.; Skinner, Steven A.; DuPont, Barbara R.; Fletcher, Robin S.; Balci, Tugce B.; Siu, Victoria Mok; Granadillo, Jorge L.; Masters, Jennefer; Kadour, Mike; Friez, Michael J.; van Haelst, Mieke M.; Mannens, Marcel M. A. M.; Louie, Raymond J.; Lee, Jennifer A.; Tedder, Matthew L.; Alders, Marielle

Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities

GENETICS IN MEDICINE

IF6.2

2021-07-0111

OAAI

Chowdhury, Fuad; Wang, Lei; Al-Raqad, Mohammed; Amor, David J.; Baxova, Alice; Bendova, Sarka; Biamino, Elisa; Brusco, Alfredo; Caluseriu, Oana; Cox, Nancy J.; Froukh, Tawfiq; Gunay-Aygun, Meral; Hancarova, Miroslava; Haynes, Devon; Heide, Solveig; Hoganson, George; Kaname, Tadashi; Keren, Boris; Kosaki, Kenjiro; Kubota, Kazuo; Lemons, Jennifer M.; Magrina, Maria A.; Mark, Paul R.; McDonald, Marie T.; Montgomery, Sarah; Morley, Gina M.; Ohnishi, Hidenori; Okamoto, Nobuhiko; Rodriguez-Buritica, David; Rump, Patrick; Sedlacek, Zdenek; Schatz, Krista; Streff, Haley; Uehara, Tomoko; Walia, Jagdeep S.; Wheeler, Patricia G.; Wiesener, Antje; Zweier, Christiane; Kawakami, Koichi; Wentzensen, Ingrid M.; Lalani, Seema R.; Siu, Victoria M.; Bi, Weimin; Balci, Tugce B.

Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders

GENETICS IN MEDICINE

IF6.2

2021-06-01118

OAAI

Sadikovic, Bekim; Levi, Michael A.; Kerkhof, Jennifer; Aref-Eshghi, Erfan; Schenkel, Laila; Stuart, Alan; McConkey, Haley; Henneman, Peter; Venema, Andrea; Schwartz, Charles E.; Stevenson, Roger E.; Skinner, Steven A.; DuPont, Barbara R.; Fletcher, Robin S.; Balci, Tugce B.; Siu, Victoria Mok; Granadillo, Jorge L.; Masters, Jennefer; Kadour, Mike; Friez, Michael J.; van Haelst, Mieke M.; Mannens, Marcel M. A. M.; Louie, Raymond J.; Lee, Jennifer A.; Tedder, Matthew L.; Alders, Marielle

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders (vol 106, pg 356, 2020)

评估42种孟德尔神经发育障碍的诊断和表型相关性的DNA甲基化表观特征 (106卷，356页，2020页)

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2021-06-0114

OAAI

Aref-Eshghi, Erfan; Kerkhof, Jennifer; Pedro, Victor P.; Barat-Houari, Mouna; Ruiz-Pallares, Nathalie; Andrau, Jean-Christophe; Lacombe, Didier; Van-Gils, Julien; Fergelot, Patricia; Dubourg, Christele; Cormier-Daire, Valerie; Rondeau, Sophie; Lecoquierre, Francois; Saugier-Veber, Pascale; Nicolas, Gael; Lesca, Gaetan; Chatron, Nicolas; Sanlaville, Damien; Vitobello, Antonio; Faivre, Laurence; Thauvin-Robinet, Christel; Laumonnier, Frederic; Raynaud, Martine; Alders, Marielle; Mannens, Marcel; Henneman, Peter; Hennekam, Raoul C.; Velasco, Guillaume; Francastel, Claire; Ulveling, Damien; Ciolfi, Andrea; Pizzi, Simone; Tartaglia, Marco; Heide, Solveig; Heron, Delphine; Mignot, Cyril; Keren, Boris; Whalen, Sandra; Afenjar, Alexandra; Bienvenu, Thierry; Campeau, Philippe M.; Rousseau, Justine; Levy, Michael A.; Brick, Lauren; Kozenko, Mariya; Balci, Tugce B.; Siu, Victoria Mok; Stuart, Alan; Kadour, Mike; Masters, Jennifer; Takano, Kyoko; Kleefstra, Tjitske; de Leeuw, Nicole; Field, Michael; Shaw, Marie; Gecz, Jozef; Ainsworth, Peter J.; Lin, Hanxin; Rodenhiser, David I.; Friez, Michael J.; Tedder, Matt; Lee, Jennifer A.; DuPont, Barbara R.; Stevenson, Roger E.; Skinner, Steven A.; Schwartz, Charles E.; Genevieve, David; Sadikovic, Bekim

Phenotate: crowdsourcing phenotype annotations as exercises in undergraduate classes (vol 12, pg 631, 2020)

GENETICS IN MEDICINE

IF6.2

2020-08-011

OAAI

Phenotate: crowdsourcing phenotype annotations as exercises in undergraduate classes

GENETICS IN MEDICINE

IF6.2

2020-08-012

OAAI

Tuğçe B. Balcı

个人简介

教育背景

工作经历

荣誉奖项

研究方向