Jean P. Pfotenhauer

发表

Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low‐copy repeats

Stephanie E. Vallee, J. Rosenfeld, L. Shaffer, 2012, Human mutation.

Familial dilated cardiomyopathy associated with congenital defects in the setting of a novel VCL mutation (Lys815Arg) in conjunction with a known MYPBC3 variant.

Q. Wells, B. Funke, C. Hong, 2011, Cardiogenetics.

Mutation update for the SATB2 gene

Donna M. Martin, Marc S. Williams, E. Roeder, 2019, Human mutation.

Limitations of exome sequencing in detecting rare and undiagnosed diseases

Kendall J. Burdick, Amy K. Robertson, J. Cogan, 2020, American journal of medical genetics. Part A.

USP7 Acts as a Molecular Rheostat to Promote WASH-Dependent Endosomal Protein Recycling and Is Mutated in a Human Neurodevelopmental Disorder.

J. Rosenfeld, I. Krantz, Ankita Patel, 2015, Molecular cell.

USP 7 Acts as a Molecular Rheostat to Promote WASH-Dependent Endosomal Protein Recycling and IsMutated in aHumanNeurodevelopmental Disorder Graphical

J. Rosenfeld, I. Krantz, Ankita Patel, 2015 .

Whole Exome Sequencing Identifies a Causal RBM20 Mutation in a Large Pedigree With Familial Dilated Cardiomyopathy

Dan M Roden, Quinn S Wells, Charles C Hong, 2013, Circulation. Cardiovascular genetics.

17q24.2 microdeletions: a new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinations

J. Hirschhorn, J. Crolla, G. Mortier, 2011, European Journal of Human Genetics.

Mutation update for the SATB 2 gene

Adeline, Marc S. Williams, E. Roeder, 2019 .

Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities.

J. Rosenfeld, L. Shaffer, P. Stankiewicz, 2010, American journal of human genetics.

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.

Justyna A. Karolak, H. Mefford, W. Chung, 2019, American journal of human genetics.

Serial Observations and Mutational Analysis of an Adoptee with Family History of Hypertrophic Cardiomyopathy

C. Hong, V. Exil, Jean P. Pfotenhauer, 2010, Cardiology research and practice.

Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies

J. Rosenfeld, I. Krantz, Ankita Patel, 2019, Genetics in Medicine.

Lack of interest by nonpregnant couples in population-based cystic fibrosis carrier screening.

E. Clayton, R. Parker, J. Phillips, 1996, American journal of human genetics.

Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies

Rebecca C. Spillmann, Denise L. Perry, J. Rosenfeld, 2019, Genetics in Medicine.