Lorraine Potocki

10.9k total citations · 1 hit paper
87 papers, 4.3k citations indexed

About

Lorraine Potocki is a scholar working on Genetics, Molecular Biology and Genetics. According to data from OpenAlex, Lorraine Potocki has authored 87 papers receiving a total of 4.3k indexed citations (citations by other indexed papers that have themselves been cited), including 57 papers in Genetics, 45 papers in Molecular Biology and 26 papers in Genetics. Recurrent topics in Lorraine Potocki's work include Genomic variations and chromosomal abnormalities (43 papers), Congenital Ear and Nasal Anomalies (17 papers) and Genetics and Neurodevelopmental Disorders (13 papers). Lorraine Potocki is often cited by papers focused on Genomic variations and chromosomal abnormalities (43 papers), Congenital Ear and Nasal Anomalies (17 papers) and Genetics and Neurodevelopmental Disorders (13 papers). Lorraine Potocki collaborates with scholars based in United States, United Kingdom and Canada. Lorraine Potocki's co-authors include James R. Lupski, Ethan Bier, Michael Gribskov, Lawrence T. Reiter, Ken‐Shiung Chen, Lisa G. Shaffer, James R. Lupski, Paweł Stankiewicz, Weimin Bi and Richard A. Lewis and has published in prestigious journals such as Nature Genetics, SHILAP Revista de lepidopterología and Genome Research.

In The Last Decade

Lorraine Potocki

83 papers receiving 4.1k 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 Systematic Analysis of Human Disease-Associated Gene Sequences In Drosophila melanogaster

2001 679 citations Lorraine Potocki et al. profile →

Peers — A (Enhanced Table)

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

Name	h						Papers	Cites
Lorraine Potocki United States	35	2.6k	2.1k	521	491	392	87	4.3k
Santhosh Girirajan United States	34	3.4k 1.3×	2.5k 1.2×	596 1.1×	209 0.4×	399 1.0×	82	5.0k
Hilde Van Esch Belgium	40	3.5k 1.3×	3.5k 1.7×	381 0.7×	165 0.3×	338 0.9×	148	5.6k
Carlos A. Bacino United States	38	3.1k 1.2×	2.4k 1.1×	521 1.0×	387 0.8×	146 0.4×	134	5.0k
Michael E. Talkowski United States	32	1.9k 0.7×	2.7k 1.3×	320 0.6×	162 0.3×	324 0.8×	100	4.3k
R. Ellen Magenis United States	32	2.0k 0.8×	2.0k 1.0×	277 0.5×	245 0.5×	469 1.2×	71	3.7k
Tjitske Kleefstra Netherlands	38	3.7k 1.4×	3.4k 1.6×	214 0.4×	200 0.4×	483 1.2×	131	5.7k
Heather C. Mefford United States	38	3.8k 1.4×	2.6k 1.2×	477 0.9×	151 0.3×	534 1.4×	110	5.6k
Jill A. Rosenfeld United States	42	3.6k 1.4×	2.9k 1.4×	415 0.8×	231 0.5×	171 0.4×	174	5.9k
Lawrence T. Reiter United States	29	1.4k 0.5×	1.6k 0.7×	333 0.6×	200 0.4×	622 1.6×	71	2.9k
Claude Moraine France	31	2.6k 1.0×	2.9k 1.3×	177 0.3×	134 0.3×	529 1.3×	83	4.4k

Countries citing papers authored by Lorraine Potocki

Since Specialization

Citations

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

Fields of papers citing papers by Lorraine Potocki

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Lorraine Potocki. 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 Lorraine Potocki. The network helps show where Lorraine Potocki may publish in the future.

Co-authorship network of co-authors of Lorraine Potocki

This figure shows the co-authorship network connecting the top 25 collaborators of Lorraine Potocki. A scholar is included among the top collaborators of Lorraine Potocki 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 Lorraine Potocki. Lorraine Potocki is excluded from the visualization to improve readability, since they are connected to all nodes in the network.

All Works

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20 of 20 papers shown

Hutchinson, J. Ciaran, Lorraine Potocki, & Ignatia B. Van den Veyver. (2025). Current Controversies in Prenatal Diagnosis 2: Conventional Postmortem Examination Remains the Gold Standard for the Anatomical Examination of Fetal Loss. Prenatal Diagnosis. 45(10). 1343–1350.

Eldomery, Mohammad K., Lorraine Potocki, Dana Marafi, et al.. (2022). De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome. American Journal of Medical Genetics Part A. 188(8). 2360–2366. 3 indexed citations

Machol, Keren, Sundeep G. Keswani, Lorraine Potocki, et al.. (2021). Evidence that FGFRL1 contributes to congenital diaphragmatic hernia development in humans. American Journal of Medical Genetics Part A. 185(3). 836–840. 7 indexed citations

Magoulas, Pilar, Pengfei Liu, Violet Gelowani, et al.. (2013). Inherited dup(17)(p11.2p11.2): Expanding the phenotype of the Potocki–Lupski syndrome. American Journal of Medical Genetics Part A. 164(2). 500–504. 23 indexed citations

Jefferies, John L., Ricardo H. Pignatelli, Hugo R. Martinez, et al.. (2012). Cardiovascular findings in duplication 17p11.2 syndrome. Genetics in Medicine. 14(1). 90–94. 25 indexed citations

Dhar, Shweta U., Raye Lynn Alford, Elizabeth A. Nelson, & Lorraine Potocki. (2012). Enhancing exposure to genetics and genomics through an innovative medical school curriculum. Genetics in Medicine. 14(1). 163–167. 35 indexed citations

Sanchez‐Valle, Amarilis, Mary Ella Pierpont, & Lorraine Potocki. (2011). The severe end of the spectrum: Hypoplastic left heart in Potocki‐Lupski syndrome. American Journal of Medical Genetics Part A. 155(2). 363–366. 27 indexed citations

Brunetti‐Pierri, Nicola, Pasquale Piccolo, Éva Morava, et al.. (2011). Cutis laxa and fatal pulmonary hypertension. Clinical Dysmorphology. 20(2). 77–81.

Soler‐Alfonso, Claudia, Kathleen J. Motil, Patricia Robbins‐Furman, et al.. (2010). Potocki-Lupski Syndrome: A Microduplication Syndrome Associated with Oropharyngeal Dysphagia and Failure to Thrive. The Journal of Pediatrics. 158(4). 655–659.e2. 37 indexed citations

10.

Sanchez‐Valle, Amarilis, Xueqing Wang, Lorraine Potocki, et al.. (2010). HERV‐mediated genomic rearrangement of EYA1 in an individual with branchio‐oto‐renal syndrome. American Journal of Medical Genetics Part A. 152A(11). 2854–2860. 29 indexed citations

11.

Ben‐Shachar, Shay, et al.. (2009). Coexistence of an unbalanced chromosomal rearrangement and spinal muscular atrophy in an infant with multiple congenital anomalies. American Journal of Medical Genetics Part A. 149A(3). 515–518. 1 indexed citations

12.

Shinawi, Marwan, Sara Szabo, Edwina J. Popek, et al.. (2005). Recognition of Smith-Lemli-Opitz syndrome (RSH) in the fetus: Utility of ultrasonography and biochemical analysis in pregnancies with low maternal serum estriol. American Journal of Medical Genetics Part A. 138A(1). 56–60. 10 indexed citations

13.

Bi, Weimin, Gulam Mustafa Saifi, Christine J. Shaw, et al.. (2004). Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome. Human Genetics. 115(6). 515–524. 81 indexed citations

14.

Smith, Ann C. M., Andrea Gropman, Joan E. Bailey‐Wilson, et al.. (2002). Hypercholesterolemia in children with Smith-Magenis syndrome: del (17)(p11.2p11.2). Genetics in Medicine. 4(3). 118–125. 43 indexed citations

15.

Wu, Yuanqing, José L. Badano, Christopher McCaskill, et al.. (2000). Haploinsufficiency of ALX4 as a Potential Cause of Parietal Foramina in the 11p11.2 Contiguous Gene–Deletion Syndrome. The American Journal of Human Genetics. 67(5). 1327–1332. 65 indexed citations

16.

Potocki, Lorraine, Ken‐Shiung Chen, & James R. Lupski. (1999). Subunit 3 of the COP9 Signal Transduction Complex Is Conserved from Plants to Humans and Maps within the Smith–Magenis Syndrome Critical Region in 17p11.2. Genomics. 57(1). 180–182. 24 indexed citations

17.

Sutton, V. Reid, Elizabeth Nickerson, James R. Lupski, et al.. (1998). Delineation of the common critical region in Williams syndrome and clinical correlation of growth, heart defects, ethnicity, and parental origin. American Journal of Medical Genetics. 78(1). 82–89. 77 indexed citations

18.

Chen, Ken‐Shiung, Prasad Manian, Thearith Koeuth, et al.. (1997). Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome. Nature Genetics. 17(2). 154–163. 296 indexed citations

19.

Greenberg, Frank, Richard A. Lewis, Lorraine Potocki, et al.. (1996). Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2). American Journal of Medical Genetics. 62(3). 247–254. 239 indexed citations

20.

Potocki, Lorraine & Lisa G. Shaffer. (1996). Interstitial deletion of 11 (P11.2p12): A newly described contiguous gene deletion syndrome involving the gene for hereditary multiple exostoses (EXT2). American Journal of Medical Genetics. 62(3). 319–325. 56 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.

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