Jill A. Rosenfeld

30.8k total citations · 1 hit paper
174 papers, 5.9k citations indexed

About

Jill A. Rosenfeld is a scholar working on Genetics, Molecular Biology and Pediatrics, Perinatology and Child Health. According to data from OpenAlex, Jill A. Rosenfeld has authored 174 papers receiving a total of 5.9k indexed citations (citations by other indexed papers that have themselves been cited), including 124 papers in Genetics, 101 papers in Molecular Biology and 21 papers in Pediatrics, Perinatology and Child Health. Recurrent topics in Jill A. Rosenfeld's work include Genomic variations and chromosomal abnormalities (93 papers), Congenital heart defects research (47 papers) and Genetics and Neurodevelopmental Disorders (40 papers). Jill A. Rosenfeld is often cited by papers focused on Genomic variations and chromosomal abnormalities (93 papers), Congenital heart defects research (47 papers) and Genetics and Neurodevelopmental Disorders (40 papers). Jill A. Rosenfeld collaborates with scholars based in United States, Canada and United Kingdom. Jill A. Rosenfeld's co-authors include Lisa G. Shaffer, Blake C. Ballif, Evan E. Eichler, Beth S. Torchia, Bradley P. Coe, Bassem A. Bejjani, Jay W. Ellison, J. Britt Ravnan, Justine Coppinger and Howard Cuckle and has published in prestigious journals such as New England Journal of Medicine, Proceedings of the National Academy of Sciences and Journal of Clinical Investigation.

In The Last Decade

Jill A. Rosenfeld

168 papers receiving 5.5k citations

Hit Papers

align trajectories

What are hit papers?

Hit papers significantly outperform the citation benchmark for their cohort. A paper qualifies if it has ≥500 total citations, achieves ≥1.5× the top-1% citation threshold for papers in the same subfield and year (this is the minimum needed to enter the top 1%, not the average within it), or reaches the top citation threshold in at least one of its specific research topics.

A Higher Mutational Burden in Females Supports a “Female Protective Model” in Neurodevelopmental Disorders

2014 375 citations Jill A. Rosenfeld et al. The American Journal of Human Genetics profile →

Peers — A (Enhanced Table)

Peers by citation overlap · career bar shows stage (early→late) cites · hero ref

Name	h						Papers	Cites
Jill A. Rosenfeld United States	42	3.6k	2.9k	1.3k	599	433	174	5.9k
Ankita Patel United States	42	4.1k 1.1×	2.8k 0.9×	1.7k 1.3×	406 0.7×	522 1.2×	143	6.5k
Carlos A. Bacino United States	38	3.1k 0.9×	2.4k 0.8×	934 0.7×	322 0.5×	405 0.9×	134	5.0k
Hilde Van Esch Belgium	40	3.5k 0.9×	3.5k 1.2×	629 0.5×	682 1.1×	259 0.6×	148	5.6k
Erik A. Sistermans Netherlands	37	2.7k 0.7×	2.9k 1.0×	1.0k 0.8×	319 0.5×	322 0.7×	123	5.6k
Anita Rauch Germany	48	3.4k 0.9×	4.4k 1.5×	679 0.5×	340 0.6×	617 1.4×	194	7.5k
David J. Amor Australia	41	2.6k 0.7×	2.6k 0.9×	1.4k 1.1×	521 0.9×	243 0.6×	225	5.4k
Sau Wai Cheung United States	47	5.6k 1.5×	3.8k 1.3×	2.2k 1.7×	494 0.8×	631 1.5×	181	7.9k
Jozef Gécz Australia	56	5.9k 1.6×	6.6k 2.2×	804 0.6×	1.1k 1.8×	312 0.7×	232	10.5k
Samantha J.L. Knight United Kingdom	38	4.0k 1.1×	3.0k 1.0×	657 0.5×	528 0.9×	210 0.5×	89	5.8k
Bert B.A. de Vries Netherlands	39	5.1k 1.4×	3.6k 1.2×	785 0.6×	653 1.1×	523 1.2×	114	7.4k

Countries citing papers authored by Jill A. Rosenfeld

Since Specialization

Citations

This map shows the geographic impact of Jill A. Rosenfeld'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 Jill A. Rosenfeld with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Jill A. Rosenfeld more than expected).

Fields of papers citing papers by Jill A. Rosenfeld

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Jill A. Rosenfeld. 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 Jill A. Rosenfeld. The network helps show where Jill A. Rosenfeld may publish in the future.

Co-authorship network of co-authors of Jill A. Rosenfeld

This figure shows the co-authorship network connecting the top 25 collaborators of Jill A. Rosenfeld. A scholar is included among the top collaborators of Jill A. Rosenfeld based on the total number of citations received by their joint publications. Widths of edges represent the number of papers authors have co-authored together. Node borders signify the number of papers an author published with Jill A. Rosenfeld. Jill A. Rosenfeld is excluded from the visualization to improve readability, since they are connected to all nodes in the network.

All Works

Sort: Min cites: Since: Top N: Style:

20 of 20 papers shown

Jorgez, Carolina J., et al.. (2025). Androgen receptor ubiquitination links KCTD13 to genitourinary tract defects. The FASEB Journal. 39(4). e70406–e70406.

Zhao, Sen, Shenglan Li, Jill A. Rosenfeld, et al.. (2025). The utility of ultra-deep RNA sequencing in Mendelian disorder diagnostics. The American Journal of Human Genetics. 112(11). 2578–2590.

Parobek, Christian M., Roni Zemet, Brian Burnett, et al.. (2024). Clinical exome sequencing uncovers genetic disorders in neonates with suspected hypoxic–ischemic encephalopathy: A retrospective analysis. Clinical Genetics. 106(1). 95–101. 4 indexed citations

Choi, Tae‐Ik, Yu‐Ri Lee, Laurie Robak, et al.. (2024). RFC2 may contribute to the pathogenicity of Williams syndrome revealed in a zebrafish model. Journal of genetics and genomics. 51(12). 1389–1403. 1 indexed citations

Vaseghi‐Shanjani, Maryam, Arezoo Mohajeri, Jill A. Rosenfeld, et al.. (2023). Dominant Negative Variants in IKZF2 Cause ICHAD Syndrome, a New Disorder Characterized by Immunodysregulation, Craniofacial Anomalies, Hearing Impairment, Athelia, and Developmental Delay. Clinical Immunology. 250. 109546–109546. 1 indexed citations

Wilderman, Andrea, Kelsey Robinson, Jill A. Rosenfeld, et al.. (2023). Integrative analysis of transcriptome dynamics during human craniofacial development identifies candidate disease genes. Nature Communications. 14(1). 4623–4623. 14 indexed citations

Ward, Scott, Paul J. Benke, Lisa Emrick, et al.. (2023). De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities. American Journal of Medical Genetics Part A. 194(1). 17–30.

Bruning, John B., et al.. (2022). Characterization of functionally deficient SIM2 variants found in patients with neurological phenotypes. Biochemical Journal. 479(13). 1441–1454. 3 indexed citations

Dai, Hongzheng, Wenmiao Zhu, Bo Yuan, et al.. (2022). A recurrent single‐exon deletion in TBCK might be under‐recognized in patients with infantile hypotonia and psychomotor delay. Human Mutation. 43(12). 1816–1823. 3 indexed citations

10.

Cao, Ye, Eva Fung, Soledad Kleppe, et al.. (2022). Expansion of the clinical and molecular spectrum of WWOX‐related epileptic encephalopathy. American Journal of Medical Genetics Part A. 191(3). 776–785. 2 indexed citations

11.

Murdock, David R., Lindsay C. Burrage, Hongzheng Dai, et al.. (2022). PRUNE1 c.933G>A synonymous variant induces exon 7 skipping, disrupts the DHHA2 domain, and leads to an atypical NMIHBA syndrome presentation: Case report and review of the literature. American Journal of Medical Genetics Part A. 188(6). 1868–1874. 2 indexed citations

12.

Rosenfeld, Jill A., et al.. (2021). Molecular characterisation of rare loss-of-function NPAS3 and NPAS4 variants identified in individuals with neurodevelopmental disorders. Scientific Reports. 11(1). 6602–6602. 8 indexed citations

13.

Wang, Julia, Wenmiao Zhu, Hongzheng Dai, et al.. (2021). PPP3CA truncating variants clustered in the regulatory domain cause early‐onset refractory epilepsy. Clinical Genetics. 100(2). 227–233. 11 indexed citations

14.

Rosenfeld, Jill A., Lauren Westerfield, Amanda Gerard, et al.. (2021). Clinical characterization of individuals with the distal 1q21.1 microdeletion. American Journal of Medical Genetics Part A. 185(5). 1388–1398. 13 indexed citations

15.

Rios, Jonathan J., Hao Yu, Kandamurugu Manickam, et al.. (2021). Saturation mutagenesis defines novel mouse models of severe spine deformity. Disease Models & Mechanisms. 14(6). 4 indexed citations

16.

Murdock, David R., Hongzheng Dai, Lindsay C. Burrage, et al.. (2020). Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing. Journal of Clinical Investigation. 131(1). 93 indexed citations

17.

Hai, Yang, et al.. (2019). De novo copy number variants and parental age: Is there an association?. European Journal of Medical Genetics. 63(4). 103829–103829. 5 indexed citations

18.

Batzir, Nurit Assia, Jennifer E. Posey, Xiaofei Song, et al.. (2019). Phenotypic expansion of POGZ‐related intellectual disability syndrome (White‐Sutton syndrome). American Journal of Medical Genetics Part A. 182(1). 38–52. 30 indexed citations

19.

Rosenfeld, Jill A., Amber N. Pursley, Ankita Patel, et al.. (2016). Contribution of genomic copy-number variations in prenatal oral clefts: a multicenter cohort study. Genetics in Medicine. 18(10). 1052–1055. 25 indexed citations

20.

Sahoo, Trilochan, Aaron Theisen, Jill A. Rosenfeld, et al.. (2011). Copy number variants of schizophrenia susceptibility loci are associated with a spectrum of speech and developmental delays and behavior problems. Genetics in Medicine. 13(10). 868–880. 75 indexed citations

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.

Explore authors with similar magnitude of impact