Susan Schelley

2.8k citations

17 papers · 1.0k indexed · 1 hit paper · h-index 13

Genetics top 2%
Molecular Biology
Pulmonary and Respiratory Medicine top 10%
Surgery
Genetics top 10%

Co-authors: Anil K. Rustgi Cornelius J.J. Westermann Sabine Tejpar Douglas A. Marchuk Éric Drouin Grant A. Mitchell Eric Legius Gabriela M. Repetto
Topics: Genomics and Rare Diseases (5 papers)Mitochondrial Function and Pathology (4 papers)Genomic variations and chromosomal abnormalities (4 papers)
Cited by: Genetics Pulmonary and Respiratory Medicine Marketing
Journals: The Lancet The American Journal of Human Genetics International Journal of Radiation Oncology*Biology*Physics
Partner nations: United States United Kingdom Canada

In The Last Decade

Susan Schelley

17 papers receiving 988 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 combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 ( SMAD4)

2004 534 citations Carol J. Gallione, Gabriela M. Repetto et al. The Lancet profile →

Peers

Countries citing papers authored by Susan Schelley

Since Specialization

Citations

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

Fields of papers citing papers by Susan Schelley

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authorship network of co-authors of Susan Schelley

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

All Works

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17 of 17 papers shown

#	Work	Indexed citations
1	An MTF1 binding site disrupted by a homozygous variant in the promoter of ATP7B likely causes Wilson Disease 2018 ·European Journal of Human Genetics ·Heidi I. Chen,Karthik A. Jagadeesh,Johannes Birgmeier,Aaron M. Wenger,Harendra Guturu,Susan Schelley,Jonathan A. Bernstein,Gill Bejerano	16
2	Pathogenic variants in HTRA2 cause an early‐onset mitochondrial syndrome associated with 3‐methylglutaconic aciduria 2016 ·Journal of Inherited Metabolic Disease ·Monika Oláhová,Kyle Thompson,Steven Hardy,Inês A. Barbosa,Arnaud Besse,(unknown),Kathryn White,Tracey Davey,Michael A. Simpson,Michael Champion,Greg Enns,Susan Schelley,Robert N. Lightowlers,Zofia M. Chrzanowska‐Lightowlers,Robert McFarland,Charu Deshpande,Penelope E. Bonnen,Robert W. Taylor	23
3	RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans 2015 ·The American Journal of Human Genetics ·Hanan E. Shamseldin,Anas M. Alazami,Melanie Manning,Amal Hashem,(unknown),Brahim Tabarki,Edward D. Esplin,Susan Schelley,A. Micheil Innes,Jillian S. Parboosingh,Ryan E. Lamont,Jacek Majewski,François P. Bernier,Fowzan S. Alkuraya	31
4	Clinical whole-exome sequencing: are we there yet? 2014 ·Genetics in Medicine ·Paldeep S. Atwal,(unknown),Rachel Cox,(unknown),Julia Platt,(unknown),Andrea Kwan,(unknown),Susan Schelley,Leah Slattery,Yael Wilnai,Jonathan A. Bernstein,Gregory M. Enns,Louanne Hudgins	43
5	Increased body mass in infancy and early toddlerhood in Angelman syndrome patients with uniparental disomy and imprinting center defects 2014 ·American Journal of Medical Genetics Part A ·Marie‐Luise Brennan,Margaret P Adam,Laurie H. Seaver,Angela Myers,Susan Schelley,Neda Zadeh,Louanne Hudgins,Jonathan A. Bernstein	14
6	Mutations in the complex III assembly factor tetratricopeptide 19 gene TTC19 are a rare cause of Leigh syndrome 2013 ·Mitochondrion ·Paldeep S. Atwal,Susan Schelley,Gregory M. Enns	2
7	Clinical Utility of Array Comparative Genomic Hybridization: Uncovering Tumor Susceptibility in Individuals with Developmental Delay 2008 ·The Journal of Pediatrics ·Margaret P Adam,(unknown),Susan Schelley,Andrea Kwan,Louanne Hudgins,Alastair J. Martin	25
8	Clinical features and management issues in Mowat–Wilson syndrome 2006 ·American Journal of Medical Genetics Part A ·Margaret P Adam,Susan Schelley,Renata C. Gallagher,(unknown),(unknown),Bruce Blumberg,Joseph T.C. Shieh,John M. Graham,Anne Slavotinek,Madelena Martin,Kim M. Keppler‐Noreuil,Andrea L. Storm,Louanne Hudgins	68
9	Relationship of primary mitochondrial respiratory chain dysfunction to fiber type abnormalities in skeletal muscle 2005 ·Clinical Genetics ·(unknown),(unknown),(unknown),Susan Schelley,Nancy Bass,Kara Weisiger,Dikran S. Horoupian,Seymour Packman	26
10	Developmental outcome in Kabuki syndrome 2004 ·American Journal of Medical Genetics Part A ·Keith K. Vaux,Kenneth Lyons Jones,Marilyn C. Jones,Susan Schelley,Louanne Hudgins	15
11	The clinical picture of the Börjeson–Forssman–Lehmann syndrome in males and heterozygous females with PHF6 mutations 2004 ·Clinical Genetics ·G. Turner,Karen M. Lower,(unknown),Martin B. Delatycki,AK Lampe,Matthew C. Wright,(unknown),Bronwyn Kerr,Susan Schelley,H. Eugene Hoyme,(unknown),Tjitske Kleefstra,Markus Grompe,Benjamin F. Cox,Jozef Gécz,M. W. Partington	56
12	A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 ( SMAD4)breakdown → 2004 ·The Lancet ·Carol J. Gallione,Gabriela M. Repetto,Eric Legius,Anil K. Rustgi,Susan Schelley,Sabine Tejpar,Grant A. Mitchell,Éric Drouin,Cornelius J.J. Westermann,Douglas A. Marchuk	534
13	Early Neonatal Diagnosis of Long-Chain 3-Hydroxyacyl Coenzyme A Dehydrogenase and Mitochondrial Trifunctional Protein Deficiencies 2002 ·Molecular Genetics and Metabolism ·Susan R. Hintz,Dietrich Matern,Arnold W. Strauss,Michael J. Bennett,H. Eugene Hoyme,Susan Schelley,Joyce A. Kobori,Christopher E. Colby,Norman L. Lehman,Gregory M. Enns	31
14	Simpson-Golabi-Behmel syndrome: Genotype/phenotype analysis of 18 affected males from 7 unrelated families 1996 ·American Journal of Medical Genetics ·R Hughes-Benzie,Giuseppe Pilia,(unknown),Alasdair G. W. Hunter,(unknown),Mahin Golabi,Jane A. Hurst,J. Kobori,(unknown),Roberta A Pagon,Hope H. Punnett,Susan Schelley,John Tolmie,(unknown),(unknown),David Schlessinger,Alex MacKenzie	109
15	Joint contractures, hyperkeratosis, and severe hypoplasia of the posterior columns: A new recessive syndrome 1993 ·American Journal of Medical Genetics ·Kathreen Johnston,(unknown),Susan Schelley,Dikran S. Horoupian	3
16	Biamnial elevated alpha‐fetoprotein and positive acetylcholinesterase in twins, one with anencephaly 1987 ·Prenatal Diagnosis ·Reece Holbrook,(unknown),Susan Schelley,James Ferguson	6
17	The effect of misonidazole on the cytotoxicity and repair of potentially lethal damage from alkylating agents in vitro 1982 ·International Journal of Radiation OncologyBiologyPhysics ·Michael R. Horsman,J. Martin Brown,Susan Schelley	7

About Susan Schelley

Susan Schelley is a scholar working on Genetics, Pediatrics, Perinatology and Child Health and Genetics, having authored 17 papers that have together received 1.0k indexed citations. Recurring topics across this work include Genomics and Rare Diseases (5 papers), Mitochondrial Function and Pathology (4 papers) and Genomic variations and chromosomal abnormalities (4 papers). The work is most often cited by research in Genetics (385 citations), Pulmonary and Respiratory Medicine (337 citations) and Marketing (85 citations). Susan Schelley has collaborated with scholars based in United States, United Kingdom and Canada. Frequent co-authors include Anil K. Rustgi, Cornelius J.J. Westermann, Sabine Tejpar, Douglas A. Marchuk, Éric Drouin, Grant A. Mitchell, Eric Legius, Gabriela M. Repetto, Carol J. Gallione and Louanne Hudgins. Their work appears in journals such as The Lancet, The American Journal of Human Genetics and International Journal of Radiation Oncology*Biology*Physics.

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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