Susan Fernbach

3.4k citations

20 papers · 2.1k indexed · h-index 15

Molecular Biology top 10%
Cardiology and Cardiovascular Medicine top 2%
Pulmonary and Respiratory Medicine top 5%
Genetics top 2%
Epidemiology top 10%

Co-authors: Jeffrey A. Towbin John W. Belmont William J. Craigen Stephanie M. Ware E. O’Brian Smith Ricardo H. Pignatelli Colin J. McMahon Susan W. Denfield
Topics: Congenital heart defects research (8 papers)Congenital Heart Disease Studies (5 papers)Tracheal and airway disorders (5 papers)
Cited by: Genetics Cardiology and Cardiovascular Medicine Clinical Biochemistry
Journals: New England Journal of Medicine Circulation PEDIATRICS
Partner nations: United States Canada United Kingdom

In The Last Decade

Susan Fernbach

20 papers receiving 2.1k citations

Peers

Countries citing papers authored by Susan Fernbach

Since Specialization

Citations

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

Fields of papers citing papers by Susan Fernbach

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authorship network of co-authors of Susan Fernbach

This figure shows the co-authorship network connecting the top 25 collaborators of Susan Fernbach. A scholar is included among the top collaborators of Susan Fernbach 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 Fernbach. Susan Fernbach 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

#	Work	Indexed citations
1	Evidence review and considerations for use of first line genome sequencing to diagnose rare genetic disorders 2024 ·npj Genomic Medicine ·Kristen Wigby,Deanna Brockman,Gregory Costain,(unknown),Stacie L. Taylor,John W. Belmont,David Bick,David Dimmock,Susan Fernbach,John M. Greally,Vaidehi Jobanputra,Shashikant Kulkarni,Elizabeth Spiteri,Ryan J. Taft	8
2	An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and aTUBB3mutation 2017 ·Molecular Case Studies ·Ronak M. Patel,David Liu,Claudia Gonzaga‐Jauregui,Shalini N. Jhangiani,James T. Lu,V. Reid Sutton,Susan Fernbach,Mahshid S. Azamian,Lisa J. White,Jane C. Edmond,Evelyn A. Paysse,John W. Belmont,Donna M. Muzny,James R. Lupski,Richard A. Gibbs,Richard A. Lewis,Brendan Lee,Seema R. Lalani,Philippe M. Campeau	15
3	Handing the pen to the patient: Reflective writing for children and families affected by genetic conditions 2014 ·American Journal of Medical Genetics Part A ·Chaya N. Murali,Susan Fernbach,Lorraine Potocki	3
4	Association of common variants in ERBB4 with congenital left ventricular outflow tract obstruction defects 2011 ·Birth Defects Research Part A Clinical and Molecular Teratology ·Kim L. McBride,Gloria Zender,Sara Fitzgerald‐Butt,(unknown),Susan Fernbach,Gladys Zapata,Mark Lewin,Jeffrey A. Towbin,John W. Belmont	34
5	Linkage analysis of left ventricular outflow tract malformations (aortic valve stenosis, coarctation of the aorta, and hypoplastic left heart syndrome) 2009 ·European Journal of Human Genetics ·Kim L. McBride,Gloria Zender,Sara Fitzgerald‐Butt,Daniel Koehler,(unknown),Susan Fernbach,Kwanghyuk Lee,Jeffrey A. Towbin,Suzanne M. Leal,John W. Belmont	54
6	Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations 2008 ·Human Molecular Genetics ·Bhagyalaxmi Mohapatra,Brett Casey,Hua Li,(unknown),(unknown),Susan Fernbach,Laura Molinari,(unknown),John L. Jefferies,William J. Craigen,Jeffrey A. Towbin,John W. Belmont,Stephanie M. Ware	116
7	Spectrum of CHD7 Mutations in 110 Individuals with CHARGE Syndrome and Genotype-Phenotype Correlation 2006 ·The American Journal of Human Genetics ·Seema R. Lalani,(unknown),Susan Fernbach,Karine G. Harutyunyan,Christina Thaller,L. E. Peterson,John D. McPherson,Richard A. Gibbs,Lisa D. White,Margaret A. Hefner,Sandra L. H. Davenport,John M. Graham,Carlos A. Bacino,Nancy L. Glass,Jeffrey A. Towbin,William J. Craigen,Steven R. Neish,Angela E. Lin,John W. Belmont	264
8	SNP genotyping to screen for a common deletion in CHARGE Syndrome 2005 ·BMC Medical Genetics ·Seema R. Lalani,(unknown),Susan Fernbach,Michael Phillips,Carlos A. Bacino,Laura Molinari,Nancy L. Glass,Jeffrey A Towbin,William J. Craigen,John W. Belmont	11
9	Inheritance analysis of congenital left ventricular outflow tract obstruction malformations: Segregation, multiplex relative risk, and heritability 2005 ·American Journal of Medical Genetics Part A ·Kim L. McBride,Ricardo H. Pignatelli,Mark Lewin,(unknown),Susan Fernbach,(unknown),Wilbur A. Lam,Suzanne M. Leal,Norman Kaplan,Paul Schliekelman,Jeffrey A. Towbin,John W. Belmont	141
10	Danon Disease as an Underrecognized Cause of Hypertrophic Cardiomyopathy in Children 2005 ·Circulation ·Yang Zhao,Colin J. McMahon,(unknown),(unknown),Adekunle M. Adesina,John P. Breinholt,Debra L. Kearney,William J. Dreyer,Susan W. Denfield,Jack F. Price,Michelle A. Grenier,Naomi J. Kertesz,Sarah K. Clunie,Susan Fernbach,James F. Southern,Stuart Berger,Jeffrey A. Towbin,Karla R. Bowles,Neil E. Bowles	109
11	Genetic Predictors and Remodeling of Dilated Cardiomyopathy in Muscular Dystrophy 2005 ·Circulation ·John L. Jefferies,Benjamin W. Eidem,John W. Belmont,William J. Craigen,Stephanie M. Ware,Susan Fernbach,Steven R. Neish,E. O’Brian Smith,Jeffrey A. Towbin	200
12	Identification and Functional Analysis of ZIC3 Mutations in Heterotaxy and Related Congenital Heart Defects 2004 ·The American Journal of Human Genetics ·Stephanie M. Ware,(unknown),Lirong Zhu,Susan Fernbach,(unknown),Brett Casey,Jeffrey A. Towbin,John W. Belmont	200
13	A family‐based association study of congenital left‐sided heart malformations and 5,10 methylenetetrahydrofolate reductase 2004 ·Birth Defects Research Part A Clinical and Molecular Teratology ·Kim L. McBride,Susan Fernbach,(unknown),Laura Molinari,(unknown),Ricardo H. Pignatelli,Jeffrey A. Towbin,John W. Belmont	29
14	Clinical Spectrum, Morbidity, and Mortality in 113 Pediatric Patients With Mitochondrial Disease 2004 ·PEDIATRICS ·Fernando Scaglia,Jeffrey A. Towbin,William J. Craigen,John W. Belmont,E. O’Brian Smith,(unknown),Stephanie M. Ware,Jill V. Hunter,Susan Fernbach,Georgirene D. Vladutiu,Lee‐Jun C. Wong,Hannes Vogel	311
15	Toward a genetic etiology of CHARGE syndrome: I. A systematic scan for submicroscopic deletions 2003 ·American Journal of Medical Genetics Part A ·Seema R. Lalani,David W. Stockton,Carlos A. Bacino,Laura Molinari,Nancy L. Glass,Susan Fernbach,Jeffrey A. Towbin,William J. Craigen,John M. Graham,Margaret A. Hefner,Angela E. Lin,Kim L. McBride,Sandra L. H. Davenport,John W. Belmont	20
16	Clinical Characterization of Left Ventricular Noncompaction in Children 2003 ·Circulation ·Ricardo H. Pignatelli,Colin J. McMahon,William J. Dreyer,Susan W. Denfield,Jack F. Price,John W. Belmont,William J. Craigen,(unknown),Howaida El Said,Louis I. Bezold,Sarah K. Clunie,Susan Fernbach,Neil E. Bowles,Jeffrey A. Towbin	431
17	Molecular genetic technology in cystic fibrosis: implications for nursing practice. 1992 ·PubMed ·Susan Fernbach,Elizabeth J. Thomson	5
18	Mutation Analysis for Heterozygote Detection and the Prenatal Diagnosis of Cystic Fibrosis 1990 ·New England Journal of Medicine ·(unknown),Gerald L. Feldman,Batsheva Kerem,Susan Fernbach,(unknown),William E. O’Brien,John R. Riordan,Francis S. Collins,Lap‐Chee Tsui,Arthur L. Beaudet	173
19	Prenatal diagnosis and heterozygote detection by DNA analysis in ornithine transcarbamylase deficiency 1989 ·The Journal of Pediatrics ·J. Edward Spence,Anne Maddalena,William E. O’Brien,Susan Fernbach,(unknown),(unknown),(unknown)	20
20	PRENATAL DIAGNOSIS OF CYSTIC FIBROSIS (CF) USING LINKED DNA MARKERS AND MICROVILLAR INTESTINAL ENZYME ANALYSIS 1987 ·Pediatric Research ·J. Edward Spence,G J Buffone,Susan Fernbach,(unknown),William E. O’Brien,Arthur L. Beaudet	1

About Susan Fernbach

Susan Fernbach is a scholar working on Genetics, Pulmonary and Respiratory Medicine and Cardiology and Cardiovascular Medicine, having authored 20 papers that have together received 2.1k indexed citations. Recurring topics across this work include Congenital heart defects research (8 papers), Congenital Heart Disease Studies (5 papers) and Tracheal and airway disorders (5 papers). The work is most often cited by research in Genetics (426 citations), Cardiology and Cardiovascular Medicine (851 citations) and Clinical Biochemistry (188 citations). Susan Fernbach has collaborated with scholars based in United States, Canada and United Kingdom. Frequent co-authors include Jeffrey A. Towbin, John W. Belmont, William J. Craigen, Stephanie M. Ware, E. O’Brian Smith, Ricardo H. Pignatelli, Colin J. McMahon, Susan W. Denfield, Jack F. Price and Sarah K. Clunie. Their work appears in journals such as New England Journal of Medicine, Circulation and PEDIATRICS.

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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