Amy Pizzino

children’s hospital of philadelphia

H指数:21

被引数:2,704

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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Biallelic variants in BCAT1 impair mitochondrial function and are associated with a candidate neurometabolic disorder

BCAT1基因的等位基因变异会损害线粒体功能，并与一种候选神经代谢性疾病相关联。

Human Genetics and Genomics Advances

IF3.6

2025-09-290

OAAI

Comprehensive Genotype-Phenotype Analysis in POLR3-Related Disorders

POLR3相关疾病的全面基因型-表型分析

Human Genetics and Genomics Advances

IF3.6

2025-07-180

OAAI

Mackenzie A. Michell-Robinson; Stefanie Perrier; Samuel Gauthier; Alexa Derksen; Quentin Sabbagh; Mathias Girbig; Agata D. Misiaszek; Amy M. Pizzino; Deborah L. Renaud; Danilo De Assis Pereira; Paola Okuda; Luciana Maestri Karoleska; Stephanie Keller; Karen Chong; Laurence Gauquelin; Bernard Brais; Barbara Leube; Tiffany Grider; Michael E. Shy; Rebecca Schüle; Martina Minnerop; Enrico Bertini; Francesco Nicita; Davide Tonduti; Christoph W. Müller; Adeline Vanderver; Nicole I. Wolf; Geneviève Bernard

Reporting ABCD1 variants as actionable secondary findings on exome and genome sequencing

将ABCD1基因变异作为可操作的次级发现报告在全外显子组和全基因组测序中

GENETICS IN MEDICINE

IF6.2

2025-07-010

PRE

The natural history of variable subtypes in pediatric-onset TUBB4A-related leukodystrophy

MOLECULAR GENETICS AND METABOLISM

IF3.5

2025-03-010

PRE

Gavazzi, Francesco; Charsar, Brittany; Hamilton, Eline; Erler, Jacqueline A.; Patel, Virali; Woidill, Sarah; Sevagamoorthy, Anjana; Helman, Guy; Schmidt, Johanna; Pizzino, Amy; Muirhead, Kayla; Takanohashi, Asako; Bonkowsky, Joshua L.; Meyerhoffer, Kelsee; Simons, Cas; Doi, Hiroshi; Satoko, Miyatake; Matsumoto, Naomichi; Delgado, Mauricio R.; Sanchez-Castillo, Meredith; Wang, Jingming; de Carvalho, Daniel Rocha; Tournev, Ivailo; Chamova, Teodora; Jordanova, Albena; Clegg, Nancy J.; Nicita, Francesco; Bertini, Enrico; Teng, Michelle; Williams, Dan; Tonduti, Davide; Houlden, Henry; Stellingwerff, Menno; Wassmer, Evangeline; Garcia-Cazorla, Angeles; Bernard, Genevieve; Mirchi, Amytice; Toutounchi, Helia; Wolf, Nicole I.; van der Knaap, Marjo S.; Shults, Justine; Adang, Laura A.; Vanderver, Adeline L.

Systemic complications of Aicardi Goutieres syndrome using real-world data

MOLECULAR GENETICS AND METABOLISM

IF3.5

2024-09-012

PRE

Developmental delay can precede neurologic regression in early onset metachromatic leukodystrophy

MOLECULAR GENETICS AND METABOLISM

IF3.5

2024-08-010

PRE

Adang, Laura Ann; Groeschel, Samuel; Grzyb, Chloe; D'Aiello, Russell; Gavazzi, Francesco; Sherbini, Omar; Bronner, Nowa; Patel, Akshilkumar; Vincent, Ariel; Sevagamoorthy, Anjana; Mutua, Sylvia; Muirhead, Kayla; Schmidt, Johanna; Pizzino, Amy; Yu, Emily; Jin, Danielle; Eichler, Florian; Fraser, Jamie L.; Emrick, Lisa; Van Haren, Keith; Boulanger, Jean-Martin; Ruzhnikov, Maura; Sylvain, Michel; Nguyen, Cam-Tu Emilie; Potic, Ana; Keller, Stephanie; Fatemi, Ali; Uebergang, Eloise; Poe, Michele; Yazdani, Pouneh Amir; Bernat, John; Lindstrom, Kristen; Bonkowsky, Joshua L.; Bernard, Genevieve; Stutterd, Chloe A.; Orchard, Paul; Gupta, Ashish O.; Ljungberg, Merete; Groenborg, Sabine; Zambon, Alberto; Locatelli, Sara; Fumagalli, Francesca; Elguen, Saskia; Kehrer, Christiane; Krageloh-Mann, Ingeborg; Shults, Justine; Vanderver, Adeline; Escolar, Maria L.

Longitudinal natural history studies based on real-world data in rare diseases: Opportunity and a novel approach

基于罕见病真实世界数据的纵向自然史研究: 机遇与新方法

MOLECULAR GENETICS AND METABOLISM

IF3.5

2024-05-015

PRE

The natural history of variable subtypes in pediatric-onset TUBB4A-related disorders

MOLECULAR GENETICS AND METABOLISM

IF3.5

2024-04-010

PRE

Autosomal recessive BLOC1S1 variants cause a hypomyelinating leukodystrophy with epileptic encephalopathy

MOLECULAR GENETICS AND METABOLISM

IF3.5

2024-04-010

PRE

Development of a rigorous approach for retrospective natural history studies in leukodystrophies

MOLECULAR GENETICS AND METABOLISM

IF3.5

2024-02-010

PRE

Expanded phenotype of AARS1-related white matter disease

AARS1-related白质病的扩展表型

GENETICS IN MEDICINE

IF6.2

2021-12-0110

OAAI

Heiman, Guy; Mendes, Marisa, I; Nicita, Francesco; Darbelli, Lama; Sherbini, Omar; Moore, Travis; Derksen, Alexa; Pizzino, Amy; Carrozzo, Rosalba; Torraco, Alessandra; Catteruccia, Michela; Aiello, Chiara; Goffrini, Paola; Figuccia, Sonia; Smith, Desiree E. C.; Hadzsiev, Kinga; Hahn, Andreas; Biskup, Saskia; Broesse, Ines; Kotzaeridou, Urania; Gauck, Darja; Grebe, Theresa A.; Elmslie, Frances; Stals, Karen; Gupta, Rajat; Bertini, Enrico; Thiffault, Isabelle; Taft, Ryan J.; Schiffmann, Raphael; Brandl, Ulrich; Haack, Tobias B.; Salomons, Gajja S.; Simons, Cas; Bernard, Genevieve; van der Knaap, Marjo S.; Vanderver, Adeline; Husain, Ralf A.

Further Delineation of the Clinical and Pathologic Features of HIKESHI- Related Hypomyelinating Leukodystrophy

PEDIATRIC NEUROLOGY

IF2.1

2021-08-014

OAAI

Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients

SCIENCE ADVANCES

IF12.5

2020-12-0451

OAAI

Bryant, Laura; Li, Dong; Cox, Samuel G.; Marchione, Dylan; Joiner, Evan F.; Wilson, Khadija; Janssen, Kevin; Lee, Pearl; March, Michael E.; Nair, Divya; Sherr, Elliott; Fregeau, Brieana; Wierenga, Klaas J.; Wadley, Alexandrea; Mancini, Grazia M. S.; Powell-Hamilton, Nina; van de Kamp, Jiddeke; Grebe, Theresa; Dean, John; Ross, Alison; Crawford, Heather P.; Powis, Zoe; Cho, Megan T.; Willing, Marcia C.; Manwaring, Linda; Schot, Rachel; Nava, Caroline; Afenjar, Alexandra; Lessel, Davor; Wagner, Matias; Klopstock, Thomas; Winkelmann, Juliane; Catarino, Claudia B.; Retterer, Kyle; Schuette, Jane L.; Innis, Jeffrey W.; Pizzino, Amy; Luttgen, Sabine; Denecke, Jonas; Strom, Tim M.; Monaghan, Kristin G.; Yuan, Zuo-Fei; Dubbs, Holly; Bend, Renee; Lee, Jennifer A.; Lyons, Michael J.; Hoefele, Julia; Gunthner, Roman; Reutter, Heiko; Keren, Boris; Radtke, Kelly; Sherbini, Omar; Mrokse, Cameron; Helbig, Katherine L.; Odent, Sylvie; Cogne, Benjamin; Mercier, Sandra; Bezieau, Stephane; Besnard, Thomas; Kury, Sebastien; Redon, Richard; Reinson, Karit; Wojcik, Monica H.; Ounap, Katrin; Ilves, Pilvi; Innes, A. Micheil; Kernohan, Kristin D.; Costain, Gregory; Meyn, M. Stephen; Chitayat, David; Zackai, Elaine; Lehman, Anna; Kitson, Hilary; Martin, Martin G.; Martinez-Agosto, Julian A.; Nelson, Stan F.; Palmer, Christina G. S.; Papp, Jeanette C.; Parker, Neil H.; Sinsheimer, Janet S.; Vilain, Eric; Wan, Jijun; Yoon, Amanda J.; Zheng, Allison; Brimble, Elise; Ferrero, Giovanni Battista; Radio, Francesca Clementina; Carli, Diana; Barresi, Sabina; Brusco, Alfredo; Tartaglia, Marco; Thomas, Jennifer Muncy; Umana, Luis; Weiss, Marjan M.; Gotway, Garrett; Stuurman, K. E.; Thompson, Michelle L.; McWalter, Kirsty; Stumpel, Constance T. R. M.; Stevens, Servi J. C.; Stegmann, Alexander P. A.; Tveten, Kristian; Vollo, Arve; Prescott, Trine; Fagerberg, Christina; Laulund, Lone Walentin; Larsen, Martin J.; Byler, Melissa; Lebel, Robert Roger; Hurst, Anna C.; Dean, Joy; Vergano, Samantha A. Schrier; Norman, Jennifer; Mercimek-Andrews, Saadet; Neira, Juanita; Van Allen, Margot, I; Longo, Nicola; Sellars, Elizabeth; Louie, Raymond J.; Cathey, Sara S.; Brokamp, Elly; Heron, Delphine; Snyder, Molly; Vanderver, Adeline; Simon, Celeste; de la Cruz, Xavier; Padilla, Natalia; Crump, J. Gage; Chung, Wendy; Garcia, Benjamin; Hakonarson, Hakon H.; Bhoj, Elizabeth J.

Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

IF5.1

2020-10-0132

OAAI

Pelletier, Felixe; Perrier, Stefanie; Cayami, Ferdy K.; Mirchi, Amytice; Saikali, Stephan; Tran, Luan T.; Ulrick, Nicole; Guerrero, Kether; Rampakakis, Emmanouil; van Spaendonk, Rosalina M. L.; Naidu, Sakkubai; Pohl, Daniela; Gibson, William T.; Demos, Michelle; Goizet, Cyril; Tejera-Martin, Ingrid; Potic, Ana; Fogel, Brent L.; Brais, Bernard; Sylvain, Michel; Sebire, Guillaume; Lourenco, Charles Marques; Bonkowsky, Joshua L.; Catsman-Berrevoets, Coriene; Pinto, Pedro S.; Tirupathi, Sandya; Stromme, Petter; de Grauw, Ton; Gieruszczak-Bialek, Dorota; Kraegeloh-Mann, Ingeborg; Mierzewska, Hanna; Philippi, Heike; Rankin, Julia; Atik, Tahir; Banwell, Brenda; Benko, William S.; Blaschek, Astrid; Bley, Annette; Boltshauser, Eugen; Bratkovic, Drago; Brozova, Klara; Cimas, Iciar; Clough, Christopher; Corenblum, Bernard; Dinopoulos, Argirios; Dolan, Gail; Faletra, Flavio; Fernandez, Raymond; Fletcher, Janice; Garcia, Maria Eugenia Garcia; Gasparini, Paolo; Gburek-Augustat, Janina; Gonzalez Moron, Dolores; Hamati, Aline; Harting, Inga; Hertzberg, Christoph; Hill, Alan; Hobson, Grace M.; Innes, A. Micheil; Kauffman, Marcelo; Kirwin, Susan M.; Kluger, Gerhard; Kolditz, Petra; Kotzaeridou, Urania; La Piana, Roberta; Liston, Eriskay; McClintock, William; McEntagart, Meriel; McKenzie, Fiona; Melancon, Serge; Misbahuddin, Anjum; Suri, Mohnish; Monton, Fernando, I; Moutton, Sebastien; Murphy, Raymond P. J.; Nickel, Miriam; Onay, Huseyin; Orcesi, Simona; Ozkinay, Ferda; Patzer, Steffi; Pedro, Helio; Pekic, Sandra; Marfa, Mercedes Pineda; Pizzino, Amy; Plecko, Barbara; Poll-The, Bwee Tien; Popovic, Vera; Rating, Dietz; Rioux, Marie-France; Espinosa, Norberto Rodriguez; Ronan, Anne; Ostergaard, John R.; Rossignol, Elsa; Sanchez-Carpintero, Rocio; Schossig, Anna; Senbil, Nesrin; Roos, Laura K. Sonderberg; Stevens, Cathy A.; Synofzik, Matthis; Sztriha, Laszlo; Tibussek, Daniel; Timmann, Dagmar; Tonduti, Davide; van de Warrenburg, Bart P.; Vazquez-Lopez, Maria; Venkateswaran, Sunita; Wasling, Pontus; Wassmer, Evangeline; Webster, Richard, I; Wiegand, Gert; Yoon, Grace; Rotteveel, Joost; Schiffmann, Raphael; van der Knaap, Marjo S.; Vanderver, Adeline; Martos-Moreno, Gabriel A.; Polychronakos, Constantin; Wolf, Nicole, I; Bernard, Genevieve

Phenotypic and Imaging Spectrum Associated With WDR45

PEDIATRIC NEUROLOGY

IF2.1

2020-08-0124

OAAI

Randomized Clinical Trial of First-Line Genome Sequencing in Pediatric White Matter Disorders

ANNALS OF NEUROLOGY

IF7.7

2020-06-0919

Vanderver, Adeline; Bernard, Genevieve; Helman, Guy; Sherbini, Omar; Boeck, Ryan; Cohn, Jeffrey; Collins, Abigail; Demarest, Scott; Dobbins, Katherine; Emrick, Lisa; Fraser, Jamie; Masser-Frye, Diane; Hayward, Jean; Karmarkar, Swati; Keller, Stephanie; Mirrop, Samuel; Mitchell, Wendy; Pathak, Sheel; Sherr, Elliott; van Haren, Keith; Waters, Erica; Wilson, Jenny L.; Zhorne, Leah; Schiffmann, Raphael; van der Knaap, Marjo S.; Pizzino, Amy; Dubbs, Holly; Shults, Justine; Simons, Cas; Taft, Ryan J.

Genome sequencing in persistently unsolved white matter disorders

ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY

IF3.9

2020-01-0730

OAAI

Helman, Guy; Lajoie, Bryan R.; Crawford, Joanna; Takanohashi, Asako; Walkiewicz, Marzena; Dolzhenko, Egor; Gross, Andrew M.; Gainullin, Vladimir G.; Bent, Stephen J.; Jenkinson, Emma M.; Ferdinandusse, Sacha; Waterham, Hans R.; Dorboz, Imen; Bertini, Enrico; Miyake, Noriko; Wolf, Nicole, I; Abbink, Truus E. M.; Kirwin, Susan M.; Tan, Christina M.; Hobson, Grace M.; Guo, Long; Ikegawa, Shiro; Pizzino, Amy; Schmidt, Johanna L.; Bernard, Genevieve; Schiffmann, Raphael; van der Knaap, Marjo S.; Simons, Cas; Taft, Ryan J.; Vanderver, Adeline

Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2019-05-01101

OAAI

Guo, Long; Bertola, Debora Romeo; Takanohashi, Asako; Saito, Asuka; Segawa, Yuko; Yokota, Takanori; Ishibashi, Satoru; Nishida, Yoichiro; Yamamoto, Guilherme Lopes; da Silva Franco, Jose Francisco; Honjo, Rachel Sayuri; Kim, Chong Ae; Musso, Camila Manso; Timmons, Margaret; Pizzino, Amy; Taft, Ryan J.; Lajoie, Bryan; Knight, Melanie A.; Fischbeck, Kenneth H.; Singleton, Andrew B.; Ferreira, Carlos R.; Wang, Zheng; Yan, Li; Garbern, James Y.; Simsek-Kiper, Pelin O.; Ohashi, Hirofumi; Robey, Pamela G.; Boyde, Alan; Matsumoto, Naomichi; Miyake, Noriko; Spranger, Juergen; Schiffmann, Raphael; Vanderver, Adeline; Nishimura, Gen; dos Santos Passos-Bueno, Maria Rita; Simons, Cas; Ishikawa, Kinya; Ikegawa, Shiro

PEDIATRIC NEUROLOGY

IF2.1

2018-07-0111

OAAI

Mirchi, Amytice; Pelletier, Felixe; Tran, Luan T.; Keller, Stephanie; Braverman, Nancy; Tonduti, Davide; Vanderver, Adeline; Pizzino, Amy; Dilenge, Marie-Emmanuelle; Poulin, Chantal; Shevell, Michael; Majnemer, Annette; Sebire, Guillaume; Srour, Myriam; Osterman, Bradley; Boucher, Renee-Myriam; Vanasse, Michel; Rossignol, Elsa; Mitchell, John; Venkateswaran, Sunita; Pohl, Daniela; Kauffman, Marcelo; Schiffmann, Raphael; Goizet, Cyril; Moutton, Sebastien; Roncarolo, Federico; Bernard, Genevieve

Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies

MOLECULAR GENETICS AND METABOLISM

IF3.5

2017-09-0145

OAAI

Adang, Laura A.; Sherbini, Omar; Ball, Laura; Bloom, Miriam; Darbari, Anil; Amartino, Hernan; DiVito, Donna; Eichler, Florian; Escolar, Maria; Evans, Sarah H.; Fatemi, Ali; Fraser, Jamie; Hollowell, Leslie; Jaffe, Nicole; Joseph, Christopher; Karpinski, Mary; Keller, Stephanie; Maddock, Ryan; Mancilla, Edna; McClary, Bruce; Mertz, Jana; Morgart, Kiley; Langan, Thomas; Leventer, Richard; Parikh, Sumit; Pizzino, Amy; Prange, Erin; Renaud, Deborah L.; Rizzo, William; Shapiro, Jay; Suhr, Dean; Suhr, Teryn; Tonduti, Davide; Waggoner, Jacque; Waldman, Amy; Wolf, Nicole I.; Zerem, Ayelet; Bonkowsky, Joshua L.; Bernard, Genevieve; van Haren, Keith; Vanderver, Adeline

Amy Pizzino

个人简介

教育背景

工作经历

荣誉奖项

研究方向