Nancy B. Spinner

24.6k citations

186 papers · 11.2k indexed · 5 hit papers · h-index 53

Impact in

Genetics top 0.2%
- Genomic variations and chromosomal abnormalities
- Genomics and Rare Diseases
Surgery top 0.5%
- Pediatric Hepatobiliary Diseases and Treatments
- Congenital Anomalies and Fetal Surgery

Papers in

Genetics 100
- Genomic variations and chromosomal abnormalities 58
- Genomics and Rare Diseases 19
Surgery 77
- Pediatric Hepatobiliary Diseases and Treatments 69
- Congenital Anomalies and Fetal Surgery 30
- Cholangiocarcinoma and Gallbladder Cancer Studies 17

Co-authors: Ian D. Krantz David A. Piccoli Anna Genin Leslie G. Biesecker Elaine H. Zackai Elizabeth B. Rand Laura K. Conlin Karan M. Emerick
Journals: Human Mutation (9 papers)Genetics in Medicine (8 papers)The American Journal of Human Genetics (7 papers)Journal of Pediatric Gastroenterology and Nutrition (7 papers)Nature Genetics (4 papers)
Partner nations: United States Canada Italy

In The Last Decade

Nancy B. Spinner

183 papers receiving 10.8k citations

Hit Papers

5 papers align trajectories log scale

Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents 2015 · 354 citations

What are hit papers?

Hit papers significantly outperform the citation benchmark for their cohort. A paper qualifies if any of the following hold:

it has ≥500 total citations;
it reaches ≥1.5× the top-1% citation threshold for papers in the same subfield and year (the threshold is the minimum needed to enter the top 1%, not the average within it);
it reaches the top citation threshold in at least one of its specific research topics.

2015 The American Journal of Human Genetics
2013 Nature Reviews Genetics
2006 The American Journal of Human Genetics
1997 Nature Genetics
1997 Nature Genetics

Peers

Countries citing papers authored by Nancy B. Spinner

Since Specialization

Citations

This map shows the geographic impact of Nancy B. Spinner's research. It shows the number of citations coming from papers published by authors working in each country. You can also color the map by specialization and compare the number of citations received by Nancy B. Spinner with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Nancy B. Spinner more than expected).

Fields of papers citing papers by Nancy B. Spinner

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Nancy B. Spinner. Nodes represent research fields, and links connect fields that are likely to share authors. Colored nodes show fields that tend to cite the papers produced by Nancy B. Spinner. The network helps show where Nancy B. Spinner may publish in the future.

Co-authorship network

The 25 scholars most cited alongside Nancy B. Spinner, linked wherever they have co-authored with each other. Click a name or a connecting line to browse the papers they share.

Border = papers with Nancy B. Spinner Line = papers co-authored together Nancy B. Spinner links everyone, so they are left out of the graph.

All Works

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20 of 20 papers shown

#	Work
1	Functional characterization of 2,832 JAG1 variants supports reclassification for Alagille syndrome and improves guidance for clinical variant interpretation The American Journal of Human Genetics ·Melissa A. Gilbert, Johannes Rösch D Hemhofen, 倪懿雯, Daniel Antfolk, Qianqian Ming, A. Mjelde, Grace Tzun-Wen Shaw, 郑羡河, Fatih Yurdalan, Vincent C. Luca, Kathleen M. Loomes, Ramakrishnan Rajagopalan, Tristan J. Hayeck, Nancy B. Spinner	2024	4
2	Genomic Contributors to Esophageal Atresia and Tracheoesophageal Fistula: A 12 Year Retrospective Review The Journal of Pediatrics ·K. Taylor Wild, Laura K. Conlin, Д.В. Адамчук, Michael A. Manfredi, Thomas E. Hamilton, A. lyenger, Elaine H. Zackai, Gary Nace, Emily A. Partridge, Matthew Devine, Tom Reynolds, Natalie E. Rintoul, Holly L. Hedrick, Nancy B. Spinner, Ian D. Krantz	2024	1
3	Advanced approach for comprehensive mtDNA genome testing in mitochondrial disease Molecular Genetics and Metabolism ·Jing Wang, Jorune Balciuniene, Maria Alejandra Diaz‐Miranda, Elizabeth M. McCormick, Мар’яна Гринців, Alison M. Muir, Kajia Cao, Meng, D Morgenthaler, P. Musella, Zarazuela Zolkipli‐Cunningham, Amy Goldstein, Rebecca Ganetzky, Colleen Muraresku, さちやひろ, Nancy B. Spinner, Douglas C. Wallace, Matthew C. Dulik, Marni J. Falk	2021	9
4	A six-attribute classification of geneticmosaicism Genetics in Medicine ·Víctor Martínez‐Glez, Jair Tenorio, Julián Nevado, Gema Gordo, Lara Rodríguez‐Laguna, Marta Feito Rodríguez, R. de Lucas, Luis A. Pérez‐Jurado, Víctor L. Ruiz‐Pérez, Antonio Torrelo, Nancy B. Spinner, Rudolf Happle, Leslie G. Biesecker, Pablo Lapunzina	2020	42
5	Rapid and accurate interpretation of clinical exomes using Phenoxome: a computational phenotype-driven approach European Journal of Human Genetics ·Chao Wu, Batsal Devkota, Perry Evans, Xiaonan Zhao, Samuel W. Baker, Sergei B. Kashevsky, Kajia Cao, Michael Gonzalez, Pushkala Jayaraman, Laura K. Conlin, Bryan L. Krock, Matthew A. Deardorff, Nancy B. Spinner, Ian D. Krantz, Avni Santani, Ahmad Abou Tayoun, Mahdi Sarmady	2019	10
6	Utility and limitations of exome sequencing in the molecular diagnosis of pediatric inherited platelet disorders American Journal of Hematology ·Edward J. Romasko, Batsal Devkota, Sawona Biswas, Mitrabinda Ray, Ramakrishnan Rajagopalan, Matthew C. Dulik, Christopher S. Thom, Judith K. Stanovic, Tayna Neiva Vieira, Maria I. Scarano, Ian D. Krantz, Nancy B. Spinner, Laura K. Conlin, Michele P. Lambert	2017	22
7	Jagged1 (JAG1): Structure, expression, and disease associations Gene ·Christopher M. Grochowski, Kathleen M. Loomes, Nancy B. Spinner	2015	95
8	Mosaicism and clinical genetics American Journal of Medical Genetics Part C Seminars in Medical Genetics ·Nancy B. Spinner, Laura K. Conlin	2014	47
9	Evidence From Human and Zebrafish That GPC1 Is a Biliary Atresia Susceptibility Gene Gastroenterology ·Shuang Cui, іі. BaƧuep, Ellen Tsai, Steven F. EauClaire, Joseph Glessner, Håkon Håkonarson, Marcella Devoto, Barbara Haber, Nancy B. Spinner, Randolph P. Matthews	2013	96
10	Bilateral Pheochromocytomas, Hemihyperplasia, and Subtle Somatic Mosaicism: The Importance of Detecting Low‐Level Uniparental Disomy American Journal of Medical Genetics Part A ·Jennifer M. Kalish, Laura K. Conlin, Sogol Mostoufi‐Moab, Alisha Wilkens, Surabhi Mulchandani, Kristin Zelley, Wilson Moreno León, Tricia Bhatti, Pierre Russo, Peter Mattei, William G. Mackenzie, Virginia A. LiVolsi, Kim E. Nichols, Jaclyn A. Biegel, Nancy B. Spinner, Matthew A. Deardorff	2013	15
11	Ring chromosome 20 European Journal of Medical Genetics ·Robert Daber, Laura K. Conlin, Laura D. Leonard, Maria Paola Canevini, Aglaia Vignoli, Syed Hosain, Lawrence W. Brown, Nancy B. Spinner	2012	48
12	Ring chromosome 20 epilepsy syndrome: An overview Syed Hosain, Laura K. Conlin, Nancy B. Spinner	2012	2
13	“What does it mean?”: Uncertainties in understanding results of chromosomal microarray testing Genetics in Medicine ·Marian Reiff, Barbara A. Bernhardt, Surabhi Mulchandani, Томшинская Ирина Николаевна, Yanlang Zhong, Reed E. Pyeritz, Nancy B. Spinner	2012	90
14	NOTCH2 mutations in Alagille syndrome Journal of Medical Genetics ·Binita M. Kamath, Robert C. Bauer, Kathleen M. Loomes, Grace F. Chao, Jennifer Gerfen, Anne Hutchinson, Winita Hardikar, Gideon M. Hirschfield, Paloma Jara, Ian D. Krantz, Pablo Lapunzina, Laura D. Leonard, Simon Ling, Vicky L. Ng, P. Le Hoang, David A. Piccoli, Nancy B. Spinner	2011	149
15	Novel microdeletion syndromes American Journal of Medical Genetics Part C Seminars in Medical Genetics ·Ian D. Krantz, Nancy B. Spinner	2007	4
16	Alagille syndrome. Journal of Medical Genetics ·Ian D. Krantz, David A. Piccoli, Nancy B. Spinner	1997	117
17	Cloning and characterization of two vertebrate homologs of the Drosophila eyes absent gene. Genome Research ·Yuma Masuyama, Wei Li, Eirı́kur Steingrı́msson, Deborah L. Nagle, Wei Fu, Anna Genin, Nancy B. Spinner, Neal G. Copeland, N A Jenkins, Maja Bućan, Nancy M. Bonini	1997	83
18	Cytogenetic and molecular characterization of inverted duplicated chromosomes 15 from 11 patients. PubMed Central ·Jackie Gosselin, Nancy B. Spinner, Elaine H. Zackai, Joan H.M. Knoll	1994	83
19	Duplication 9q34→qter identified by chromosome painting American Journal of Medical Genetics ·Nancy B. Spinner, J. N. Lucas, M. Poggensee, A. MacEwen Peach, Adele Schneider	1993	24
20	46, XX, 15p+ documented as dup (17p) by fluorescence in situ hybridization American Journal of Medical Genetics ·Nancy B. Spinner, Jaclyn A. Biegel, F. Hariri, Donna M. McDonald‐McGinn, Trini Saptariani, Annette H. Parmiter, Elaine H. Zackai	1993	15

About Nancy B. Spinner

Nancy B. Spinner is a scholar working on Genetics, Surgery, Pediatrics, Perinatology and Child Health, Pulmonary and Respiratory Medicine and Molecular Biology, having authored 186 papers that have together received 11.2k indexed citations. Recurring topics across this work include Pediatric Hepatobiliary Diseases and Treatments (69 papers), Genomic variations and chromosomal abnormalities (58 papers), Gallbladder and Bile Duct Disorders (45 papers), Congenital Anomalies and Fetal Surgery (30 papers), Prenatal Screening and Diagnostics (23 papers), Chromosomal and Genetic Variations (21 papers), Genomics and Rare Diseases (19 papers) and Cholangiocarcinoma and Gallbladder Cancer Studies (17 papers). The work is most often cited by research in Genetics (4.0k citations), Surgery (4.0k citations), Hepatology (699 citations), Pulmonary and Respiratory Medicine (2.4k citations) and Molecular Biology (4.9k citations). Nancy B. Spinner has collaborated with scholars based in United States, Canada and Italy. Frequent co-authors include Ian D. Krantz, David A. Piccoli, Anna Genin, Leslie G. Biesecker, Elaine H. Zackai, Elizabeth B. Rand, Laura K. Conlin, Karan M. Emerick, Binita M. Kamath and Kathleen M. Loomes. Their work appears in journals such as Human Mutation, Genetics in Medicine, The American Journal of Human Genetics, Journal of Pediatric Gastroenterology and Nutrition and Nature Genetics.

Rankless uses publication and citation data sourced from OpenAlex, an open and comprehensive bibliographic database. While OpenAlex provides broad and valuable coverage of the global research landscape, it—like all bibliographic datasets—has inherent limitations. These include incomplete records, variations in author disambiguation, differences in journal indexing, and delays in data updates. As a result, some metrics and network relationships displayed in Rankless may not fully capture the entirety of a scholar's output or impact.

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