Erik Puffenberger: search on Z-Library

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1

Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene

Dietz, Harry C., Cutting, Carry R., Pyeritz, Reed E., Maslen, Cheryl L., Sakai, Lynn Y, Corson, Glen M, Puffenberger, Erik G., Hamosh, Ada, Nanthakumar, Elizabeth J., Curristin, Sheila M.

Journal:

Year:

1991

File:

PDF, 453 KB

1991

2

Amish lethal microcephaly: A new metabolic disorder with severe congenital microcephaly and 2-ketoglutaric aciduria

Richard I. Kelley, Donna Robinson, Erik G. Puffenberger, Kevin A. Strauss, D. Holmes Morton

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 192 KB

english, 2002

3

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

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

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 871 KB

english, 2010

4

Homozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem disease

Williams, Katie B, Brigatti, Karlla W, Puffenberger, Erik G, Gonzaga-Jauregui, Claudia, Griffin, Laurie B, Martinez, Erick D, Wenger, Olivia K, Yoder, Mark, Kandula, Vinay V R, Fox, Michael D, Demczko

Journal:

Human Molecular Genetics

Year:

2018

Language:

english

File:

PDF, 2.08 MB

english, 2018

5

A gene for Hirschsprung disease (megacolon) in the pericentromeric region of human chromosome 10

Angrist, Misha, Kauffman, Erick, Slaugenhaupt, Susan A., Cox Matise, Tara, Puffenberger, Erik G., Shaw Washington, Sarah, Lipson, Anthony, Cass, Daniel T., Reyna, Troy, Weeks, Daniel E.

Journal:

Nature Genetics

Year:

1993

File:

PDF, 676 KB

1993

6

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

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

Journal:

Year:

2005

Language:

english

File:

PDF, 671 KB

english, 2005

7

Phenylalanine hydroxylase deficiency exhibits mutation heterogeneity in two large old order Amish settlements

Heng Wang, Leah Nye, Erik Puffenberger, Holmes Morton

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 78 KB

english, 2007

8

CODAS Syndrome Is Associated with Mutations of LONP1, Encoding Mitochondrial AAA+ Lon Protease

Strauss, Kevin A., Jinks, Robert N., Puffenberger, Erik G., Venkatesh, Sundararajan, Singh, Kamalendra, Cheng, Iteen, Mikita, Natalie, Thilagavathi, Jayapalraja, Lee, Jae, Sarafianos, Stefan, Benkert,

Journal:

The American Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 2.49 MB

english, 2015

9

Preliminary Safety and Tolerability of a Novel Subcutaneous Intrathecal Catheter System for Repeated Outpatient Dosing of Nusinersen to Children and Adults With Spinal Muscular Atrophy

Strauss, Kevin A., Carson, Vincent J., Brigatti, Karlla W., Young, Millie, Robinson, Donna L., Hendrickson, Christine, Fox, Michael D., Reed, Robert M., Puffenberger, Erik G., Mackenzie, William, Mill

Journal:

Journal of Pediatric Orthopaedics

Year:

2018

Language:

english

File:

PDF, 312 KB

english, 2018

10

Immunologic and clinical features of 25 Amish patients with RMRP 70 A → G cartilage hair hypoplasia

Nicholas L. Rider, D. Holmes Morton, Erik Puffenberger, Christine L. Hendrickson, Donna L. Robinson, Kevin A. Strauss

Journal:

Clinical Immunology

Year:

2009

Language:

english

File:

PDF, 872 KB

english, 2009

11

Pediatric medicine and the genetic disorders of the Amish and Mennonite people of Pennsylvania

D. Holmes Morton, Caroline S. Morton, Kevin A. Strauss, Donna L. Robinson, Erik G. Puffenberger, Christine Hendrickson, Richard I. Kelley

Journal:

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Year:

2003

Language:

english

File:

PDF, 133 KB

english, 2003

12

Genetics, Medicine, and the Plain People

Strauss, Kevin A., Puffenberger, Erik G.

Journal:

Annual Review of Genomics and Human Genetics

Year:

2009

Language:

english

File:

PDF, 2.13 MB

english, 2009

13

LIPID LEVELS AND VASCULAR FUNCTION IN YOUNG INDIVIDUALS, HETEROZYGOUS OR HOMOZYGOUS FOR AN APOB C.1058G>A VARIANT

Chowdhury, Devyani, Pascua, Christine, Young, Millie, Horst, Michael, McCulloch, Michael A., Gidding, Samuel, Puffenberger, Erik, Strauss, Kevin, Williams, Katie

Journal:

Journal of the American College of Cardiology

Year:

2017

Language:

english

File:

PDF, 601 KB

english, 2017

14

Homozygosity for a novel splice site mutation in the cardiac myosin-binding protein C gene causes severe neonatal hypertrophic cardiomyopathy

Baozhong Xin, Erik Puffenberger, John Tumbush, J.R. Bockoven, Heng Wang

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 151 KB

english, 2007

15

Mutations in FLVCR1 Cause Posterior Column Ataxia and Retinitis Pigmentosa

Anjali M. Rajadhyaksha, Olivier Elemento, Erik G. Puffenberger, Kathryn C. Schierberl, Jenny Z. Xiang, Maria L. Putorti, José Berciano, Chantal Poulin, Bernard Brais, Michel Michaelides, Richard G. We

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 1.36 MB

english, 2010

16

Corrigendum to “Classical maple syrup urine disease and brain development: Principles of management and formula design” [Mol. Genet. Metab. 99 (2010) 333–345]

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

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 86 KB

english, 2011

17

Development of DNA Confirmatory and High-Risk Diagnostic Testing for Newborns Using Targeted Next-Generation DNA Sequencing

Bhattacharjee, Arindam, Sokolsky, Tanya, Wyman, Stacia K., Reese, Martin G., Puffenberger, Erik, Strauss, Kevin, Morton, Holmes, Parad, Richard B., Naylor, Edwin W.

Journal:

Genetics in Medicine

Year:

2015

Language:

english

File:

PDF, 1.25 MB

english, 2015

18

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

Baozhong Xin, Stephen Jones, Erik G. Puffenberger, Claas Hinze, Alicia Bright, Haiyan Tan, Aimin Zhou, Guiyun Wu, Jilda Vargus-Adams, Dimitris Agamanolis, Heng Wang and C. Thomas Caskey

Journal:

Proceedings of the National Academy of Sciences

Year:

2011

Language:

english

File:

PDF, 1.24 MB

english, 2011

19

One Community’s Effort to Control Genetic Disease

Strauss, Kevin A., Puffenberger, Erik G., Morton, D. Holmes

Journal:

American Journal of Public Health

Year:

2012

Language:

english

File:

PDF, 1.52 MB

english, 2012

20

Identification of C7orf11 (TTDN1) Gene Mutations and Genetic Heterogeneity in Nonphotosensitive Trichothiodystrophy

Kazuhiko Nakabayashi, Daniela Amann, Yan Ren, Ulpu Saarialho-Kere, Nili Avidan, Simone Gentles, Jeffrey R. MacDonald, Erik G. Puffenberger, Angela M. Christiano, Amalia Martinez-Mir, Julio C. Salas-Al

Journal:

The American Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 4.40 MB

english, 2005

21

Clinical application of DNA microarrays: Molecular diagnosis and HLA matching of an Amish child with severe combined immune deficiency

Kevin A. Strauss, Erik G. Puffenberger, Nancy Bunin, Nicholas L. Rider, Mary C. Morton, James T. Eastman III, D. Holmes Morton

Journal:

Clinical Immunology

Year:

2008

Language:

english

File:

PDF, 3.13 MB

english, 2008

22

Matching Two Independent Cohorts Validates DPH1 as a Gene Responsible for Autosomal Recessive Intellectual Disability with Short Stature, Craniofacial, and Ectodermal Anomalies

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., Alk

Journal:

Year:

2015

Language:

english

File:

PDF, 347 KB

english, 2015

23

Type I glutaric aciduria, part 1: Natural history of 77 patients

Kevin A. Strauss, Erik G. Puffenberger, Donna L. Robinson, D. Holmes Morton

Journal:

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Year:

2003

Language:

english

File:

PDF, 465 KB

english, 2003

24

Erythrocyte pyruvate kinase deficiency in an old-order Amish cohort: Longitudinal risk and disease management

Nicholas L. Rider, Kevin A. Strauss, Krysta Brown, Armin Finkenstedt, Erik G. Puffenberger, Christine L. Hendrickson, Donna L. Robinson, Nikolas Muenke, Chris Tselepis, Lauren Saunders, Heinz Zoller,

Journal:

American Journal of Hematology

Year:

2011

Language:

english

File:

PDF, 2.03 MB

english, 2011

25

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

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

Journal:

The American Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 388 KB

english, 2008

26

Abnormal Hepatic Sinusoidal Bile Acid Transport in an Amish Kindred Is Not Linked to FIC1 and Is Improved by Ursodiol

D.Holmes Morton*, Gerald Salen‡, §, A.K. Batta‡, Sarah Shefer‡, G.Stephen Tint‡, §, Deborah Belchis‖, Benjamin Shneider¶, Erik Puffenberger*, Laura Bull#, A.S. Knisely**

Journal:

Gastroenterology

Year:

2000

Language:

english

File:

PDF, 345 KB

english, 2000

27

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

Streeten, Elizabeth A., Ramirez, Sheila, Eliades, Myrto, Jaimungal, Sarada, Chandrasekaran, Sruti, Kathleen, Ryan, Holmes Morton, D., Puffenberger, Erik G., Herskovitz, Rita, Leonard, Mary B.

Journal:

Year:

2015

Language:

english

File:

PDF, 1.19 MB

english, 2015

28

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

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, El-Maarr

Journal:

Year:

2016

Language:

english

File:

PDF, 1.89 MB

english, 2016

29

Molecular Genetic Analysis in Autosomal Dominant Keratoconus

Rabinowitz, Yaron S., Maumenee, Irene H., Lundergan, Maureen K., Puffenberger, Erik, Zhu, Danping, Antonarakis, Stelianos, Francomano, Clair A.

Journal:

Year:

1992

File:

PDF, 555 KB

1992

30

Primary Ciliary Dyskinesia-Causing Mutations in Amish and Mennonite Communities

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,

Journal:

The Journal of Pediatrics

Year:

2013

Language:

english

File:

PDF, 322 KB

english, 2013

31

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

Piya Lahiry, Jian Wang, John F. Robinson, Jacob P. Turowec, David W. Litchfield, Matthew B. Lanktree, Gregory B. Gloor, Erik G. Puffenberger, Kevin A. Strauss, Mildred B. Martens, David A. Ramsay, C.

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 2.05 MB

english, 2009

32

Liver transplantation for treatment of severe S-adenosylhomocysteine hydrolase deficiency

Strauss, Kevin A., Ferreira, Carlos, Bottiglieri, Teodoro, Zhao, Xueqing, Arning, Erland, Zhang, Shucha, Zeisel, Steven H., Escolar, Maria L., Presnick, Nancy, Puffenberger, Erik G., Vugrek, Oliver, K

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 1.82 MB

english, 2015

33

A novel autosomal recessive malformation syndrome associated with developmental delay and distinctive facies maps to 16ptel in the Hutterite population

Kym M. Boycott, Chandree Beaulieu, Erik G. Puffenberger, D. Ross McLeod, Jillian S. Parboosingh, A. Micheil Innes

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 308 KB

english, 2010

34

A homozygous missense mutation in HERC2 associated with global developmental delay and autism spectrum disorder

Puffenberger, Erik G., Jinks, Robert N., Wang, Heng, Xin, Baozhong, Fiorentini, Christopher, Sherman, Eric A., Degrazio, Dominick, Shaw, Calvin, Sougnez, Carrie, Cibulskis, Kristian, Gabriel, Stacey,

Journal:

Year:

2012

Language:

english

File:

PDF, 517 KB

english, 2012

35

Management of Congenital Heart Disease Associated with Ellis-van Creveld Short-rib Thoracic Dysplasia

Chowdhury, Devyani, Williams, Katie B., Chidekel, Aaron, Pizarro, Christian, Preedy, Catherine, Young, Millie, Hendrickson, Christine, Robinson, Donna L., Kreiger, Portia A., Puffenberger, Erik G., St

Journal:

The Journal of Pediatrics

Year:

2017

Language:

english

File:

PDF, 1.39 MB

english, 2017

36

Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay

Morimoto, Marie, Waller-Evans, Helen, Ammous, Zineb, Song, Xiaofei, Strauss, Kevin A., Pehlivan, Davut, Gonzaga-Jauregui, Claudia, Puffenberger, Erik G., Holst, Charles R., Karaca, Ender, Brigatti, Ka

Journal:

The American Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 1.46 MB

english, 2018

37

Genome-wide association study and mouse model identify interaction between RET and EDNRB pathways in Hirschsprung disease

Carrasquillo, Minerva M., McCallion, Andrew S., Puffenberger, Erik G., Kashuk, Carl S., Nouri, Nassim, Chakravarti, Aravinda

Journal:

Nature Genetics

Year:

2002

Language:

english

File:

PDF, 237 KB

english, 2002

38

Branched-chain α-ketoacid dehydrogenase deficiency (maple syrup urine disease): Treatment, biomarkers, and outcomes

Strauss, Kevin A., Carson, Vincent J., Soltys, Kyle, Young, Millie E., Bowser, Lauren E., Puffenberger, Erik G., Brigatti, Karlla W., Williams, Katie B., Robinson, Donna L., Hendrickson, Christine, Be

Journal:

Molecular Genetics and Metabolism

Year:

2020

File:

PDF, 16.18 MB

2020

39

Safety, efficacy and physiological actions of a lysine-free, arginine-rich formula to treat glutaryl-CoA dehydrogenase deficiency: Focus on cerebral amino acid influx

Kevin A. Strauss, Joan Brumbaugh, Alana Duffy, Bridget Wardley, Donna Robinson, Christine Hendrickson, Silvia Tortorelli, Ann B. Moser, Erik G. Puffenberger, Nicholas L. Rider, D. Holmes Morton

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 1.50 MB

english, 2011

40

Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73

Jinks, Robert N., Puffenberger, Erik G., Baple, Emma, Harding, Brian, Crino, Peter, Fogo, Agnes B., Wenger, Olivia, Xin, Baozhong, Koehler, Alanna E., McGlincy, Madeleine H., Provencher, Margaret M.,

Journal:

Year:

2015

Language:

english

File:

PDF, 2.51 MB

english, 2015

41

Homozygous Frameshift Mutation in TMCO1 Causes a Syndrome with Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation

Baozhong Xin, Erik G. Puffenberger, Susan Turben, Haiyan Tan, Aimin Zhou, Heng Wang and Albert de la Chapelle

Journal:

Proceedings of the National Academy of Sciences

Year:

2010

Language:

english

File:

PDF, 1.42 MB

english, 2010

42

Management of hyperbilirubinemia and prevention of kernicterus in 20 patients with Crigler-Najjar disease

Kevin A. Strauss, Donna L. Robinson, Hendrik J. Vreman, Erik G. Puffenberger, Graham Hart, D. Holmes Morton

Journal:

European Journal of Pediatrics

Year:

2006

Language:

english

File:

PDF, 370 KB

english, 2006

43

Recessive Symptomatic Focal Epilepsy and Mutant Contactin-Associated Protein-like 2

Strauss, Kevin A., Puffenberger, Erik G., Huentelman, Matthew J., Gottlieb, Steven, Dobrin, Seth E., Parod, Jennifer M., Stephan, Dietrich A., Morton, D. Holmes

Journal:

Boston Medical and Surgical Journal

Year:

2006

Language:

english

File:

PDF, 623 KB

english, 2006

44

Prevention of brain disease from severe 5,10-methylenetetrahydrofolate reductase deficiency

Kevin A. Strauss, D. Holmes Morton, Erik G. Puffenberger, Christine Hendrickson, Donna L. Robinson, Conrad Wagner, Sally P. Stabler, Robert H. Allen, Grazyna Chwatko, Hieronim Jakubowski, Mihai D. Nic

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 830 KB

english, 2007

45

Identity-by-descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22

G.Puffenberger, Erik, R.Kauffman, Erick, Bolk, Stacey, C.Matise, Tara, S.Washington, Sarah, Angrist, Misha, Weissenbach, Jean, L.Garver, Kenneth, Mascari, Maria, Ladda, Roger, A.SIaugenhaupt, Susan, C

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 4.09 MB

english, 1994

46

Spinal muscular atrophy within Amish and Mennonite populations: Ancestral haplotypes and natural history

Carson, Vincent J., Puffenberger, Erik G., Bowser, Lauren E., Brigatti, Karlla W., Young, Millie, Korulczyk, Dominika, Rodrigues, Ashlin S., Loeven, KaLynn K., Strauss, Kevin A., Gillingwater, Thomas

Journal:

Year:

2018

Language:

english

File:

PDF, 4.35 MB

english, 2018

47

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

Stacey Bolk, Erik G. Puffenberger, Jim Hudson, D. Holmes Morton, Aravinda Chakravarti

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 572 KB

english, 1999

48

Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions

Tan, Tiong Yang, Gonzaga-Jauregui, Claudia, Bhoj, Elizabeth J., Strauss, Kevin A., Brigatti, Karlla, Puffenberger, Erik, Li, Dong, Xie, LiQin, Das, Nanditha, Skubas, Ioanna, Deckelbaum, Ron A., Hughes

Journal:

The American Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 1.42 MB

english, 2017

49

Genetic Mapping and Exome Sequencing Identify Variants Associated with Five Novel Diseases

Puffenberger, Erik G., Jinks, Robert N., Sougnez, Carrie, Cibulskis, Kristian, Willert, Rebecca A., Achilly, Nathan P., Cassidy, Ryan P., Fiorentini, Christopher J., Heiken, Kory F., Lawrence, Johnny

Journal:

Year:

2012

Language:

english

File:

PDF, 6.27 MB

english, 2012

50

Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT

Carlton, Victoria E. H., Harris, Baruch Z., Puffenberger, Erik G., Batta, A. K., Knisely, A. S., Robinson, Donna L., Strauss, Kevin A., Shneider, Benjamin L., Lim, Wendell A., Salen, Gerald

Journal:

Nature Genetics

Year:

2003

Language:

english

File:

PDF, 167 KB

english, 2003

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