Publications by authors named "Susan Fernbach"

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Evidence review and considerations for use of first line genome sequencing to diagnose rare genetic disorders.
Kristen M Wigby, Deanna Brockman, Gregory Costain, Caitlin Hale, Stacie L Taylor, Susan Fernbach

NPJ Genom Med· February 2024

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Genetic architecture of laterality defects revealed by whole exome sequencing.
Alexander H Li, Neil A Hanchard, Mahshid Azamian, Lisa C A D'Alessandro, Zeynep Coban-Akdemir, Susan Fernbach

Eur J Hum Genet· April 2019

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Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns.
Alexander H Li, Neil A Hanchard, Dieter Furthner, Susan Fernbach, Mahshid Azamian

Genome Med· October 2017

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Assessment of large copy number variants in patients with apparently isolated congenital left-sided cardiac lesions reveals clinically relevant genomic events.
Neil A Hanchard, Luis A Umana, Lisa D'Alessandro, Mahshid Azamian, Mojisola Poopola, Susan Fernbach

Am J Med Genet A· August 2017

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An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a mutation.
Ronak M Patel, David Liu, Claudia Gonzaga-Jauregui, Shalini Jhangiani, James T Lu, Susan D Fernbach

Cold Spring Harb Mol Case Stud· March 2017

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A genome-wide association study of congenital cardiovascular left-sided lesions shows association with a locus on chromosome 20.
Neil A Hanchard, Shanker Swaminathan, Kristine Bucasas, Dieter Furthner, Susan Fernbach

Hum Mol Genet· June 2016

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Handing the pen to the patient: reflective writing for children and families affected by genetic conditions.
Chaya Murali, Susan D Fernbach, Lorraine Potocki

Am J Med Genet A· December 2014

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MCTP2 is a dosage-sensitive gene required for cardiac outflow tract development.
Seema R Lalani, Stephanie M Ware, Xueqing Wang, Gladys Zapata, Qi Tian, Susan D Fernbach

Hum Mol Genet· November 2013

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Association of common variants in ERBB4 with congenital left ventricular outflow tract obstruction defects.
Kim L McBride, Gloria A Zender, Sara M Fitzgerald-Butt, Nikki J Seagraves, Susan D Fernbach

Birth Defects Res A Clin Mol Teratol· March 2011

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Linkage analysis of left ventricular outflow tract malformations (aortic valve stenosis, coarctation of the aorta, and hypoplastic left heart syndrome).
Kim L McBride, Gloria A Zender, Sara M Fitzgerald-Butt, Daniel Koehler, Andres Menesses-Diaz, Susan Fernbach

Eur J Hum Genet· June 2009

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Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations.
Bhagyalaxmi Mohapatra, Brett Casey, Hua Li, Trang Ho-Dawson, Liana Smith, Susan D Fernbach

Hum Mol Genet· March 2009

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Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation.
Seema R Lalani, Arsalan M Safiullah, Susan D Fernbach, Karine G Harutyunyan, Christina Thaller

Am J Hum Genet· February 2006

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Genetic predictors and remodeling of dilated cardiomyopathy in muscular dystrophy.
John L Jefferies, Benjamin W Eidem, John W Belmont, William J Craigen, Stephanie M Ware, Susan D Fernbach

Circulation· November 2005

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Danon disease as an underrecognized cause of hypertrophic cardiomyopathy in children.
Zhao Yang, Colin J McMahon, Liana R Smith, Jeathrina Bersola, Adekunle M Adesina, Susan D Fernbach

Circulation· September 2005

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Inheritance analysis of congenital left ventricular outflow tract obstruction malformations: Segregation, multiplex relative risk, and heritability.
Kim L McBride, Ricardo Pignatelli, Mark Lewin, Trang Ho, Susan Fernbach

Am J Med Genet A· April 2005

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SNP genotyping to screen for a common deletion in CHARGE syndrome.
Seema R Lalani, Arsalan M Safiullah, Susan D Fernbach, Michael Phillips, Carlos A Bacino

BMC Med Genet· February 2005

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A family-based association study of congenital left-sided heart malformations and 5,10 methylenetetrahydrofolate reductase.
Kim L McBride, Susan Fernbach, Andres Menesses, Laura Molinari, Ellinor Quay

Birth Defects Res A Clin Mol Teratol· October 2004

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Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease.
Fernando Scaglia, Jeffrey A Towbin, William J Craigen, John W Belmont, E O'Brian Smith, Susan D Fernbach

Pediatrics· October 2004

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Echocardiographic evaluation of asymptomatic parental and sibling cardiovascular anomalies associated with congenital left ventricular outflow tract lesions.
Mark B Lewin, Kim L McBride, Ricardo Pignatelli, Susan Fernbach, Ana Combes

Pediatrics· September 2004

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Identification and functional analysis of ZIC3 mutations in heterotaxy and related congenital heart defects.
Stephanie M Ware, Jianlan Peng, Lirong Zhu, Susan Fernbach, Suzanne Colicos

Am J Hum Genet· January 2004

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Clinical characterization of left ventricular noncompaction in children: a relatively common form of cardiomyopathy.
Ricardo H Pignatelli, Colin J McMahon, William J Dreyer, Susan W Denfield, Jack Price, Susan Fernbach

Circulation· November 2003

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Toward a genetic etiology of CHARGE syndrome: I. A systematic scan for submicroscopic deletions.
Seema R Lalani, David W Stockton, Carlos Bacino, Laura M Molinari, Nancy L Glass, Susan D Fernbach

Am J Med Genet A· April 2003

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