One Community’s Effort to Control Genetic Disease

Por Strauss, Kevin A., Puffenberger, Erik G., Morton, D. Holmes
Publicado em 2012

Elevated Frequency and Allelic Heterogeneity of Congenital Nephrotic Syndrome, Finnish Type, in the Old Order Mennonites

Por Bolk, Stacey, Puffenberger, Erik G., Hudson, Jim, Morton, D. Holmes, Chakravarti, Aravinda
Publicado em 1999

Homozygous frameshift mutation in TMCO1 causes a syndrome with craniofacial dysmorphism, skeletal anomalies, and mental retardation

Por Xin, Baozhong, Puffenberger, Erik G., Turben, Susan, Tan, Haiyan, Zhou, Aimin, Wang, Heng
Publicado em 2009

Genetic Mapping of Glutaric Aciduria, Type 3, to Chromosome 7 and Identification of Mutations in C7orf10

Por Sherman, Eric A., Strauss, Kevin A., Tortorelli, Silvia, Bennett, Michael J., Knerr, Ina, Morton, D. Holmes, Puffenberger, Erik G.
Publicado em 2008

Classical maple syrup urine disease and brain development: Principles of management and formula design

Por Strauss, Kevin A., Wardley, Bridget, Robinson, Donna, Hendrickson, Christine, Rider, Nicholas L., Puffenberger, Erik G., Shelmer, Diana, Moser, Ann B., Morton, D. Holmes
Publicado em 2010

Homozygous mutation in SAMHD1 gene causes cerebral vasculopathy and early onset stroke

Por Xin, Baozhong, Jones, Stephen, Puffenberger, Erik G., Hinze, Claas, Bright, Alicia, Tan, Haiyan, Zhou, Aimin, Wu, Guiyun, Vargus-Adams, Jilda, Agamanolis, Dimitris, Wang, Heng
Publicado em 2011

Fractures on bisphosphonates in osteoporosis pseudoglioma syndrome (OPPG): pQCT shows poor bone density and structure

Por Streeten, Elizabeth A., Ramirez, Sheila, Eliades, Myrto, Jaimungal, Sarada, Chandrasekaran, Sruti, Kathleen, Ryan, Morton, D. Holmes, Puffenberger, Erik G., Herskovitz, Rita, Leonard, Mary B.
Publicado no Bone (2015)

Abnormal Hypermethylation at Imprinting Control Regions in Patients with S-Adenosylhomocysteine Hydrolase (AHCY) Deficiency

Por Motzek, Antje, Knežević, Jelena, Switzeny, Olivier J., Cooper, Alexis, Barić, Ivo, Beluzić, Robert, Strauss, Kevin A., Puffenberger, Erik G., Mudd, S. Harvey, Vugrek, Oliver, Zechner, Ulrich
Publicado no PLoS One (2016)

Identification of disease causing loci using an array-based genotyping approach on pooled DNA

Por Craig, David W, Huentelman, Matthew J, Hu-Lince, Diane, Zismann, Victoria L, Kruer, Michael C, Lee, Anne M, Puffenberger, Erik G, Pearson, John M, Stephan, Dietrich A
Publicado em 2005

Mutations in FLVCR1 Cause Posterior Column Ataxia and Retinitis Pigmentosa

Por Rajadhyaksha, Anjali M., Elemento, Olivier, Puffenberger, Erik G., Schierberl, Kathryn C., Xiang, Jenny Z., Putorti, Maria L., Berciano, José, Poulin, Chantal, Brais, Bernard, Michaelides, Michel, Weleber, Richard G., Higgins, Joseph J.
Publicado em 2010

Human ITCH E3 Ubiquitin Ligase Deficiency Causes Syndromic Multisystem Autoimmune Disease

Por Lohr, Naomi J., Molleston, Jean P., Strauss, Kevin A., Torres-Martinez, Wilfredo, Sherman, Eric A., Squires, Robert H., Rider, Nicholas L., Chikwava, Kudakwashe R., Cummings, Oscar W., Morton, D. Holmes, Puffenberger, Erik G.
Publicado em 2010

Matching two independent cohorts validates DPH1 as a gene responsible for autosomal recessive intellectual disability with short stature, craniofacial and ectodermal anomalies

Por Loucks, Catrina M., Parboosingh, Jillian S., Shaheen, Ranad, Bernier, Francois P., McLeod, D. Ross, Seidahmed, Mohammed Z., Puffenberger, Erik G., Ober, Carole, Hegele, Robert A., Boycott, Kym M., Alkuraya, Fowzan S., Innes, A. Micheil
Publicado no Hum Mutat (2015)

Primary Ciliary Dyskinesia-Causing Mutations in Amish and Mennonite Communities

Por Ferkol, Thomas W., Puffenberger, Erik G., Lie, Hauw, Helms, Cynthia, Strauss, Kevin A., Bowcock, Anne, Carson, John L., Hazucha, Milan, Morton, D. Holmes, Patel, Anand C., Leigh, Margaret W., Knowles, Michael R., Zariwala, Maimoona A.
Publicado em 2013

A Homozygous SLITRK6 nonsense mutation is associated with progressive auditory neuropathy in humans

Por Morlet, Thierry, Rabinowitz, Mindy R., Looney, Liesl R., Riegner, Tammy, Greenwood, L. Ashleigh, Sherman, Eric A., Achilly, Nathan, Zhu, Anni, Yoo, Estelle, ÓReilly, Robert C., Jinks, Robert N., Puffenberger, Erik G., Heaps, Adam, Morton, Holmes, Strauss, Kevin A.
Publicado em 2013

A population-based study of KCNH7 p.Arg394His and bipolar spectrum disorder

Por Strauss, Kevin A., Markx, Sander, Georgi, Benjamin, Paul, Steven M., Jinks, Robert N., Hoshi, Toshinori, McDonald, Ann, First, Michael B., Liu, Wencheng, Benkert, Abigail R., Heaps, Adam D., Tian, Yutao, Chakravarti, Aravinda, Bucan, Maja, Puffenberger, Erik G.
Publicado no Hum Mol Genet (2014)

A Multiplex Human Syndrome Implicates a Key Role for Intestinal Cell Kinase in Development of Central Nervous, Skeletal, and Endocrine Systems

Por Lahiry, Piya, Wang, Jian, Robinson, John F., Turowec, Jacob P., Litchfield, David W., Lanktree, Matthew B., Gloor, Gregory B., Puffenberger, Erik G., Strauss, Kevin A., Martens, Mildred B., Ramsay, David A., Rupar, C. Anthony, Siu, Victoria, Hegele, Robert A.
Publicado em 2009

A Multiplex Human Syndrome Implicates a Key Role for Intestinal Cell Kinase in Development of Central Nervous, Skeletal, and Endocrine Systems

Por Lahiry, Piya, Wang, Jian, Robinson, John F., Turowec, Jacob P., Litchfield, David W., Lanktree, Matthew B., Gloor, Gregory B., Puffenberger, Erik G., Strauss, Kevin A., Martens, Mildred B., Ramsay, David A., Rupar, C. Anthony, Siu, Victoria, Hegele, Robert A.
Publicado em 2009

Intellectual disability associated with a homozygous missense mutation in THOC6

Por Beaulieu, Chandree L, Huang, Lijia, Innes, A Micheil, Akimenko, Marie-Andree, Puffenberger, Erik G, Schwartz, Charles, Jerry, Paul, Ober, Carole, Hegele, Robert A, McLeod, D Ross, Schwartzentruber, Jeremy, Majewski, Jacek, Bulman, Dennis E, Parboosingh, Jillian S, Boycott, Kym M
Publicado em 2013

Severity of cardiomyopathy associated with adenine nucleotide translocator-1 deficiency correlates with mtDNA haplogroup

Por Strauss, Kevin A., DuBiner, Lauren, Simon, Mariella, Zaragoza, Michael, Sengupta, Partho P., Li, Peng, Narula, Navneet, Dreike, Sandra, Platt, Julia, Procaccio, Vincent, Ortiz-González, Xilma R., Puffenberger, Erik G., Kelley, Richard I., Morton, D. Holmes, Narula, Jagat, Wallace, Douglas C.
Publicado em 2013

A Novel Mutation of LAMB2 in a Multi-Generational Mennonite Family Reveals a New Phenotypic Variant of Pierson Syndrome

Por Mohney, Brian G., Pulido, Jose S., Lindor, Noralane M., Hogan, Marie C., Consugar, Mark B., Peters, Justin, Pankratz, V. Shane, Nasr, Samih H., Smith, Stephen J., Gloor, James, Kubly, Vickie, Spencer, Dorothy, Nielson, Rebecca, Puffenberger, Erik G., Strauss, Kevin A., Morton, D. Holmes, Eldahdah, Lama, Harris, Peter C.
Publicado em 2011