S. Fernbach

发表

Defects in neural stem cell proliferation and olfaction in Chd7 deficient mice indicate a mechanism for hyposmia in human CHARGE syndrome.

Donna M. Martin, Y. Raphael, W. Layman, 2009, Human molecular genetics.

Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations.

J. Belmont, J. Towbin, S. Fernbach, 2009, Human molecular genetics.

Clinical Spectrum, Morbidity, and Mortality in 113 Pediatric Patients With Mitochondrial Disease

J. Belmont, J. Towbin, S. Fernbach, 2004, Pediatrics.

Assessment of large copy number variants in patients with apparently isolated congenital left‐sided cardiac lesions reveals clinically relevant genomic events

Mahshid S. Azamian, J. Belmont, J. Towbin, 2017, American journal of medical genetics. Part A.

Prenatal diagnosis of cystic fibrosis using linked DNA markers and microvillar intestinal enzyme analysis

D. Ledbetter, A. Beaudet, S. Fernbach, 1987, Human Genetics.

Toward a genetic etiology of CHARGE syndrome: I. A systematic scan for submicroscopic deletions

J. Belmont, J. Towbin, S. Lalani, 2003, American journal of medical genetics. Part A.

Left Ventricular Noncompaction Suggests Myopathy

J. Towbin, S. Fernbach, W. Dreyer, 2004 .

PTPN11 Mutations in Noonan syndrome type I: detection of recurrent mutations in exons 3 and 13

R. Gibbs, J. Belmont, F. Yu, 2002, Human mutation.

Mutation analysis for heterozygote detection and the prenatal diagnosis of cystic fibrosis.

L. Tsui, F. Collins, A. Beaudet, 1990, The New England journal of medicine.

Prenatal diagnosis and heterozygote detection by DNA analysis in ornithine transcarbamylase deficiency.

A. Beaudet, S. Fernbach, W. O'Brien, 1989, The Journal of pediatrics.

SNP genotyping to screen for a common deletion in CHARGE Syndrome

J. Belmont, J. Towbin, S. Lalani, 2005, BMC Medical Genetics.

SEMA3E mutation in a patient with CHARGE syndrome

S. Lalani, S. Fernbach, D. M. Martin, 2004, Journal of Medical Genetics.

Genetic architecture of laterality defects revealed by whole exome sequencing

Alexander Hanbo Li, Mahshid S. Azamian, J. Lupski, 2019, European Journal of Human Genetics.

Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns

Alexander Hanbo Li, Mahshid S. Azamian, J. Rosenfeld, 2017, Genome Medicine.

An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a TUBB3 mutation

James T Lu, Richard A Gibbs, Philippe M Campeau, 2017, Cold Spring Harbor molecular case studies.

Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation.

Leif E. Peterson, L. D. White, R. Gibbs, 2006, American journal of human genetics.

A genome-wide association study of congenital cardiovascular left-sided lesions shows association with a locus on chromosome 20.

Mahshid S. Azamian, J. Lupski, S. Leal, 2016, Human molecular genetics.

Association of common variants in ERBB4 with congenital left ventricular outflow tract obstruction defects.

J. Belmont, J. Towbin, S. Fernbach, 2011, Birth defects research. Part A, Clinical and molecular teratology.

Linkage disequilibrium, cystic fibrosis, and genetic counseling.

A. Beaudet, S. Fernbach, W. O'Brien, 1989, American journal of human genetics.

Clinical Characterization of Left Ventricular Noncompaction in Children: A Relatively Common Form of Cardiomyopathy

J. Belmont, J. Towbin, S. Fernbach, 2003, Circulation.

MCTP2 is a dosage-sensitive gene required for cardiac outflow tract development.

Ankita Patel, S. Cheung, J. Belmont, 2013, Human molecular genetics.

Linkage analysis of left ventricular outflow tract malformations (aortic valve stenosis, coarctation of the aorta, and hypoplastic left heart syndrome)

S. Leal, J. Belmont, J. Towbin, 2009, European Journal of Human Genetics.

Inheritance analysis of congenital left ventricular outflow tract obstruction malformations: Segregation, multiplex relative risk, and heritability

S. Leal, J. Belmont, J. Towbin, 2005, American journal of medical genetics. Part A.

Echocardiographic Evaluation of Asymptomatic Parental and Sibling Cardiovascular Anomalies Associated With Congenital Left Ventricular Outflow Tract Lesions

J. Belmont, J. Towbin, S. Fernbach, 2004, Pediatrics.

Identiﬁcation and Functional Analysis of ZIC3 Mutations in Heterotaxy and Related Congenital Heart Defects

J. Belmont, J. Towbin, S. Fernbach, 2022 .

A family-based association study of congenital left-sided heart malformations and 5,10 methylenetetrahydrofolate reductase.

J. Belmont, J. Towbin, S. Fernbach, 2004, Birth defects research. Part A, Clinical and molecular teratology.

Prenatal diagnosis of cystic fibrosis by using linked DNA markers in 138 pregnancies at 1-in-4 risk.

A. Beaudet, S. Fernbach, R. Williamson, 1989, American journal of medical genetics.

Genetic Predictors and Remodeling of Dilated Cardiomyopathy in Muscular Dystrophy

J. Belmont, J. Towbin, S. Fernbach, 2005, Circulation.

Danon Disease as an Underrecognized Cause of Hypertrophic Cardiomyopathy in Children

J. Towbin, S. Fernbach, W. Dreyer, 2005, Circulation.

Prenatal diagnosis of cystic fibrosis: microvillar enzymes and DNA analysis compared.

A. Beaudet, S. Fernbach, W. O'Brien, 1988, Clinical chemistry.

Genetic architecture of laterality defects revealed by whole exome sequencing

Alexander Hanbo Li, Mahshid S. Azamian, J. Lupski, 2019, European Journal of Human Genetics.

Mutation analysis in cystic fibrosis.

L. Tsui, F. Collins, A. Beaudet, 1990, The New England journal of medicine.

Handing the pen to the patient: Reflective writing for children and families affected by genetic conditions

S. Fernbach, L. Potocki, C. Murali, 2014, American journal of medical genetics. Part A.

Mutation analysis for cystic fibrosis in a North American population.

A. Beaudet, S. Fernbach, W. O'Brien, 1991, Advances in Experimental Medicine and Biology.

Molecular genetic technology in cystic fibrosis: implications for nursing practice.

E. Thomson, S. Fernbach, 1992, Journal of pediatric nursing.

Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns

Alexander Hanbo Li, Mahshid S. Azamian, J. Rosenfeld, 2017, Genome Medicine.

MCTP2 is a dosage-sensitive gene required for cardiac outflow tract development.

Ankita Patel, S. Cheung, J. Belmont, 2013, Human molecular genetics.