Lorraine Potocki

10.9k citations

87 papers · 4.3k indexed · 1 hit paper · h-index 35

Genetics top 0.5%
Molecular Biology top 5%
Plant Science top 5%
Genetics top 2%
Cellular and Molecular Neuroscience top 5%

Co-authors: James R. Lupski Ethan Bier Michael Gribskov Lawrence T. Reiter Ken‐Shiung Chen Lisa G. Shaffer Paweł Stankiewicz Weimin Bi
Topics: Genomic variations and chromosomal abnormalities (43 papers)Congenital Ear and Nasal Anomalies (17 papers)Genetics and Neurodevelopmental Disorders (13 papers)
Cited by: Genetics Aging
Journals: Nature GeneticsSHILAP Revista de lepidopterologíaGenome Research
Partner nations: United States United Kingdom Canada

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

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

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

20 of 20 papers shown

#	Work	Indexed citations
1	Current Controversies in Prenatal Diagnosis 2: Conventional Postmortem Examination Remains the Gold Standard for the Anatomical Examination of Fetal Loss 2025 ·Prenatal Diagnosis ·J. Ciaran Hutchinson,Lorraine Potocki,Ignatia B. Van den Veyver	0
2	De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome 2022 ·American Journal of Medical Genetics Part A ·(unknown),Mohammad K. Eldomery,Lorraine Potocki,Dana Marafi,Jennifer E. Posey,Zeynep Coban‐Akdemir,Tamar Harel,Christopher M. Grochowski,Hailey Loucks,W. Patrick Devine,Jessica Van Ziffle,Dan Doherty,James R. Lupski,Joseph T.C. Shieh	3
3	Evidence that FGFRL1 contributes to congenital diaphragmatic hernia development in humans 2021 ·American Journal of Medical Genetics Part A ·(unknown),(unknown),Keren Machol,Sundeep G. Keswani,Lorraine Potocki,Eleonora Di Gregorio,(unknown),Alfredo Brusco,Andrés Hernández,Daryl A. Scott	7
4	Inherited dup(17)(p11.2p11.2): Expanding the phenotype of the Potocki–Lupski syndrome 2013 ·American Journal of Medical Genetics Part A ·Pilar Magoulas,Pengfei Liu,Violet Gelowani,Claudia Soler‐Alfonso,Emma Kivuva,James R. Lupski,Lorraine Potocki	23
5	Cardiovascular findings in duplication 17p11.2 syndrome 2012 ·Genetics in Medicine ·John L. Jefferies,Ricardo H. Pignatelli,Hugo R. Martinez,Patricia Robbins‐Furman,Pengfei Liu,Wenli Gu,James R. Lupski,Lorraine Potocki	25
6	Enhancing exposure to genetics and genomics through an innovative medical school curriculum 2012 ·Genetics in Medicine ·Shweta U. Dhar,Raye Lynn Alford,Elizabeth A. Nelson,Lorraine Potocki	35
7	The severe end of the spectrum: Hypoplastic left heart in Potocki‐Lupski syndrome 2011 ·American Journal of Medical Genetics Part A ·Amarilis Sanchez‐Valle,Mary Ella Pierpont,Lorraine Potocki	27
8	Cutis laxa and fatal pulmonary hypertension 2011 ·Clinical Dysmorphology ·Nicola Brunetti‐Pierri,Pasquale Piccolo,Éva Morava,Ron A. Wevers,(unknown),Yvette R. Johnson,Zsolt Urbán,Megan K. Dishop,Lorraine Potocki	0
9	Potocki-Lupski Syndrome: A Microduplication Syndrome Associated with Oropharyngeal Dysphagia and Failure to Thrive 2010 ·The Journal of Pediatrics ·Claudia Soler‐Alfonso,Kathleen J. Motil,(unknown),Patricia Robbins‐Furman,Ellen M. Friedman,Feng Zhang,James R. Lupski,J. Kennard Fraley,Lorraine Potocki	37
10	HERV‐mediated genomic rearrangement of EYA1 in an individual with branchio‐oto‐renal syndrome 2010 ·American Journal of Medical Genetics Part A ·Amarilis Sanchez‐Valle,Xueqing Wang,Lorraine Potocki,Zhilian Xia,Sung‐Hae Kang,(unknown),(unknown),Patricia L. Williams,(unknown),Ellen K. Brundage,(unknown),Paweł Stankiewicz,Sau Wai Cheung,Seema R. Lalani	29
11	Coexistence of an unbalanced chromosomal rearrangement and spinal muscular atrophy in an infant with multiple congenital anomalies 2009 ·American Journal of Medical Genetics Part A ·Shay Ben‐Shachar,(unknown),Lorraine Potocki,Seema R. Lalani	1
12	Recognition of Smith-Lemli-Opitz syndrome (RSH) in the fetus: Utility of ultrasonography and biochemical analysis in pregnancies with low maternal serum estriol 2005 ·American Journal of Medical Genetics Part A ·Marwan Shinawi,Sara Szabo,Edwina J. Popek,Christopher A. Wassif,Forbes D. Porter,Lorraine Potocki	10
13	Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome 2004 ·Human Genetics ·Weimin Bi,Gulam Mustafa Saifi,Christine J. Shaw,Katherina Walz,(unknown),Meredith Wilson,Lorraine Potocki,James R. Lupski	81
14	Hypercholesterolemia in children with Smith-Magenis syndrome: del (17)(p11.2p11.2) 2002 ·Genetics in Medicine ·Ann C. M. Smith,Andrea Gropman,Joan E. Bailey‐Wilson,Özlem Göker-Alpan,Sarah H. Elsea,Jan Blancato,James R. Lupski,Lorraine Potocki	43
15	Haploinsufficiency of ALX4 as a Potential Cause of Parietal Foramina in the 11p11.2 Contiguous Gene–Deletion Syndrome 2000 ·The American Journal of Human Genetics ·Yuanqing Wu,José L. Badano,Christopher McCaskill,Hannes Vogel,Lorraine Potocki,Lisa G. Shaffer	65
16	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 1999 ·Genomics ·Lorraine Potocki,Ken‐Shiung Chen,James R. Lupski	24
17	Delineation of the common critical region in Williams syndrome and clinical correlation of growth, heart defects, ethnicity, and parental origin 1998 ·American Journal of Medical Genetics ·(unknown),V. Reid Sutton,Elizabeth Nickerson,James R. Lupski,Lorraine Potocki,Julie R. Korenberg,Frank Greenberg,Mayada Tassabehji,Lisa G. Shaffer	77
18	Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome 1997 ·Nature Genetics ·Ken‐Shiung Chen,Prasad Manian,Thearith Koeuth,Lorraine Potocki,Qi Zhao,(unknown),(unknown),James R. Lupski	296
19	Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2) 1996 ·American Journal of Medical Genetics ·Frank Greenberg,Richard A. Lewis,Lorraine Potocki,Daniel G. Glaze,Julie T. Parke,James M. Killian,Mary A. Murphy,Daniel Williamson,Frank R. Brown,Robert V. Dutton,Charles W. McCluggage,Ellen M. Friedman,Marcelle Sulek,James R. Lupski	239
20	Interstitial deletion of 11 (P11.2p12): A newly described contiguous gene deletion syndrome involving the gene for hereditary multiple exostoses (EXT2) 1996 ·American Journal of Medical Genetics ·Lorraine Potocki,Lisa G. Shaffer	56

About Lorraine Potocki

Lorraine Potocki is a scholar working on Genetics, Genetics and Developmental Biology, having authored 87 papers that have together received 4.3k indexed citations. Recurring topics across this work include Genomic variations and chromosomal abnormalities (43 papers), Congenital Ear and Nasal Anomalies (17 papers) and Genetics and Neurodevelopmental Disorders (13 papers). The work is most often cited by research in Genetics (2.6k citations), Aging (133 citations) and Genetics (491 citations). Lorraine Potocki has collaborated with scholars based in United States, United Kingdom and Canada. Frequent 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. Their work appears in journals such as Nature Genetics, SHILAP Revista de lepidopterología and Genome Research.

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