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N

Nancy B. Spinner

children's hospital of philadelphia
H指数:76
被引数:2.4万

个人简介

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荣誉奖项

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Establishing consensus diagnostic criteria for ring chromosome 20 syndrome: A modified electronic Delphi consensus study

建立环状染色体20综合征的共识诊断标准：一项改良的电子德尔菲共识研究

Epilepsia
IF6.6
2026-10-070
OAAI
Abizairie Sánchez-Feliciano; William D. James; Mark P. Fitzgerald; Allison Watson; Angela Peron; Antonio Gil-Nagel; Kenneth A. Myers; Kentaro Tokumoto; Lieven Lagae; Nancy B. Spinner; Rhys H. Thomas; Rudolf R. Roth; Sarah Woodson; Tim Buckinx; Yushi Inoue; John S. Barbieri
Response to Sansom et al

对Sansom et al.的回应

Genetics in Medicine
IF6.2
2026-01-060
PRE
Katharine Press Callahan; Rebecca Mueller; Steven Joffe; Cara Skraban; Nancy Spinner; Karen Crew; Justin Clapp; David Munson; Chris Feudtner
Phenotypic Divergence of JAG1- and NOTCH2-Associated Alagille Syndrome & Disease-Specific NOTCH2 Variant Classification Guidelines

JAG1和NOTCH2相关Alagille综合征的表型分歧与疾病特异性NOTCH2变异分类指南

Liver International
IF5.2
2025-07-310
OAAI
Shannon M. Vandriel; Li-Ting Li; Huiyu She; Jian-She Wang; Kathleen M. Loomes; David A. Piccoli; Irena Jankowska; Piotr Czubkowski; Dorota Gliwicz-Miedzińska; Lorenzo D'Antiga; Emanuele Nicastro; Florence Lacaille; Dominique Debray; Étienne M. Sokal; Tanguy Demaret; Rima L. Fawaz; Silvia Nastasio; Kyung Mo Kim; Seak Hee Oh; Björn Fischler; Henrik Arnell; Catherine Larson-Nath; Winita Hardikar; Sahana Shankar; Shikha S. Sundaram; Alexander Chaidez; Pinar Bulut; Pier Luigi Calvo; Mureo Kasahara; Niviann Blondet; Eberhard Lurz; Anna-Maria Kavallar; Emmanuel M. Gonzales; Emmanuel Jacquemin; Jérôme Bouligand; Noelle H. Ebel; Jeffrey A. Feinstein; Susan M. Siew; Michael O. Stormon; Saul J. Karpen; Rene Romero; M. Kyle Jensen; Catalina Jaramillo; James E. Squires; Sarah M. Bedoyan; Deirdre A. Kelly; Jane Hartley; Henkjan J. Verkade; Way Seah Lee; Chatmanee Lertudomphonwanit; Ryan T. Fischer; Henry C. Lin; Nathalie Rock; Yael Mozer-Glassberg; Amin J. Roberts; Helen M. Evans; Wikrom Karnsakul; Gabriella Nebbia; Victorien M. Wolters; Pamela L. Valentino; Jesus Quintero Bernabeu; Amal A. Aqul; Cigdem Arikan; María Legarda Tamara; Cristina Molera Busoms; Thomas Damgaard Sandahl; Giuseppe Indolfi; Andréanne N. Zizzo; Aglaia Zellos; Ruben E. Quiros-Tejeira; Ermelinda Santos-Silva; Kathleen B. Schwarz; Jernej Brecelj; Maria Camila Sanchez; Maria Lorena Cavalieri; Christos Tzivinikos; Sabina Wiecek; John Eshun; Nanda Kerkar; Quais Mujawar; Zerrin Önal; Cristina Gonçalves; Jennifer Garcia; Seema Alam; Carolina Jimenez-Rivera; Luis Bujanda; Richard J. Thompson; Bettina E. Hansen; Nancy B. Spinner; Melissa A. Gilbert; Binita M. Kamath; The Global ALagille Alliance (GALA) Study Group
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
Gonzalez, Carlos A. Dominguez; Spinner, Nancy B.; Ahrens-Nicklas, Rebecca C.; Young, Lisa R.; Voss, Laura A.; Reichert, Sara L.; Gallo, Daniel J.; Cohen, Julie S.; Bonkowsky, Joshua L.; Keller, Stephanie R.; Bennett, Mariko L.; Pizzino, Amy M.; Swantkowski, Meghan; Arnold, Kaley; Fraser, Jamie L.; Emerson, Felicity J.; Miettunen, Kelly; Fatemi, Ali; Haren, Keith P. Van; Adang, Laura; Waldman, Amy; Emrick, Lisa; Eichler, Florian; Vanderver, Adeline
A multicenter analysis of individuals with a 47,XXY/46,XX karyotype
GENETICS IN MEDICINE
IF6.2
2024-10-010
PRE
Guess, Tiffany; Wheeler, Ferrin C.; Yenamandra, Ashwini; Schilit, Samantha L. P.; Anderson, Hannah S.; Bone, Kathleen M.; Carstens, Billie; Conlin, Laura; Dulik, Matthew C.; Dupont, Barbra R.; Fanning, Elizabeth; Gardner, Juli-Anne; Haag, Mary; Hilton, Benjamin A.; Johnson, Jill; Kogan, Jillene; Murry, Jacyln; Polonis, Katarzyna; Quigley, Denise I.; Repnikova, Elena A.; Rowsey, Ross A.; Spinner, Nancy; Stoeker, Mikayla; Thurston, Virginia; Wiley, Margaret; Zhang, Lei
Functional characterization of 2,832 JAG1 variants supports reclassification for Alagille syndrome and improves guidance for clinical variant interpretation
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2024-08-012
OAAI
Gilbert, Melissa A.; Keefer-Jacques, Ernest; Jadhav, Tanaya; Antfolk, Daniel; Ming, Qianqian; Valente, Nicolette; Shaw, Grace Tzun-Wen; Sottolano, Christopher J.; Matwijec, Grace; Luca, Vincent C.; Loomes, Kathleen M.; Rajagopalan, Ramakrishnan; Hayeck, Tristan J.; Spinner, Nancy B.
Natural history of liver disease in a large international cohort of children with Alagille syndrome: Results from the GALA study
HEPATOLOGY
IF15.8
2022-10-1328
OAAI
Vandriel, Shannon M.; Li, Li-Ting; She, Huiyu; Wang, Jian-She; Gilbert, Melissa A.; Jankowska, Irena; Czubkowski, Piotr; Gliwicz-Miedzinska, Dorota; Gonzales, Emmanuel M.; Jacquemin, Emmanuel; Bouligand, Jerome; Spinner, Nancy B.; Loomes, Kathleen M.; Piccoli, David A.; D'Antiga, Lorenzo; Nicastro, Emanuele; Sokal, Etienne; Demaret, Tanguy; Ebel, Noelle H.; Feinstein, Jeffrey A.; Fawaz, Rima; Nastasio, Silvia; Lacaille, Florence; Debray, Dominique; Arnell, Henrik; Fischler, Bjorn; Siew, Susan; Stormon, Michael; Karpen, Saul J.; Romero, Rene; Kim, Kyung Mo; Baek, Woo Yim; Hardikar, Winita; Shankar, Sahana; Roberts, Amin J.; Evans, Helen M.; Jensen, M. Kyle; Kavan, Marianne; Sundaram, Shikha S.; Chaidez, Alexander; Karthikeyan, Palaniswamy; Sanchez, Maria Camila; Cavalieri, Maria Lorena; Verkade, Henkjan J.; Lee, Way Seah; Squires, James E.; Hajinicolaou, Christina; Lertudomphonwanit, Chatmanee; Fischer, Ryan T.; Larson-Nath, Catherine; Mozer-Glassberg, Yael; Arikan, Cigdem; Lin, Henry C.; Bernabeu, Jesus Quintero; Alam, Seema; Kelly, Deirdre A.; Carvalho, Elisa; Ferreira, Cristina Targa; Indolfi, Giuseppe; Quiros-Tejeira, Ruben E.; Bulut, Pinar; Calvo, Pier Luigi; Onal, Zerrin; Valentino, Pamela L.; Desai, Dev M.; Eshun, John; Rogalidou, Maria; Dezsofi, Antal; Wiecek, Sabina; Nebbia, Gabriella; Pinto, Raquel Borges; Wolters, Victorien M.; Tamara, Maria Legarda; Zizzo, Andreanne N.; Garcia, Jennifer; Schwarz, Kathleen; Beretta, Marisa; Sandahl, Thomas Damgaard; Jimenez-Rivera, Carolina; Kerkar, Nanda; Brecelj, Jernej; Mujawar, Quais; Rock, Nathalie; Busoms, Cristina Molera; Karnsakul, Wikrom; Lurz, Eberhard; Santos-Silva, Ermelinda; Blondet, Niviann; Bujanda, Luis; Shah, Uzma; Thompson, Richard J.; Hansen, Bettina E.; Kamath, Binita M.
Advanced approach for comprehensive mtDNA genome testing in mitochondrial disease
MOLECULAR GENETICS AND METABOLISM
IF3.5
2022-01-016
OAAI
Wang, Jing; Balciuniene, Jorune; Diaz-Miranda, Maria Alejandra; McCormick, Elizabeth M.; Aref-Eshghi, Erfan; Muir, Alison M.; Cao, Kajia; Troiani, Juliana; Moseley, Alicia; Fan, Zhiqian; Zolkipli-Cunningham, Zarazuela; Goldstein, Amy; Ganetzky, Rebecca D.; Muraresku, Colleen C.; Peterson, James T.; Spinner, Nancy B.; Wallace, Douglas C.; Dulik, Matthew C.; Falk, Marni J.
A six-attribute classification of genetic mosaicism
GENETICS IN MEDICINE
IF6.2
2020-11-0149
OAAI
Martinez-Glez, Victor; Tenorio, Jair; Nevado, Julian; Gordo, Gema; Rodriguez-Laguna, Lara; Feito, Marta; de Lucas, Raul; Perez-Jurado, Luis A.; Ruiz Perez, Victor L.; Torrelo, Antonio; Spinner, Nancy B.; Happle, Rudolf; Biesecker, Leslie G.; Lapunzina, Pablo

研究方向

暂未获取到该数据
I
Ian D. Krantz
H 指数:74论文数:335被引数:2.2万
L
Laura K. Conlin
H 指数:43论文数:219被引数:6,991
K
Kathleen M. Loomes
H 指数:49论文数:222被引数:6,398
D
David A. Piccoli
H 指数:57论文数:301被引数:1.2万
E
Elaine H. Zackai
H 指数:113论文数:1,093被引数:4.9万
R
Ramakrishnan Rajagopalan
H 指数:27论文数:62被引数:2,773
M
Matthew C. Dulik
H 指数:26论文数:105被引数:3,773
B
Binita M. Kamath
H 指数:55论文数:267被引数:8,959
S
Sawona Biswas
H 指数:19论文数:46被引数:2,680
J
Jonathan S. Berg
H 指数:61论文数:335被引数:2.1万