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A Restricted Spectrum of Mutations in the SMAD4 Tumor-Suppressor Gene Underlies Myhre Syndrome Viviana Caputo, Luciano Cianetti, Marcello Niceta, Claudio Carta, Andrea Ciolfi, Gianfranco Bocchinfuso, Eugenio Carrani, Maria Lisa Dentici, Elisa Biamino, Elga Belligni, Livia Garavelli, Loredana Boccone, Daniela Melis, Generoso Andria, Bruce D. Gelb, Lorenzo Stella, Margherita Silengo, Bruno Dallapiccola, Marco Tartaglia The American Journal of Human Genetics Volume 90, Issue 1, Pages (January 2012) DOI: /j.ajhg Copyright © 2012 The American Society of Human Genetics Terms and Conditions Terms and Conditions
Figure 1 The American Journal of Human Genetics , DOI: ( /j.ajhg ) Copyright © 2012 The American Society of Human Genetics Terms and Conditions Terms and Conditions
Figure 2 The American Journal of Human Genetics , DOI: ( /j.ajhg ) Copyright © 2012 The American Society of Human Genetics Terms and Conditions Terms and Conditions
Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies Marcello.
Gene Preference in Maple Syrup Urine Disease Mary M. Nellis, Dean J. Danner The American Journal of Human Genetics Volume 68, Issue 1, Pages (January.
Previous Estimates of Mitochondrial DNA Mutation Level Variance Did Not Account for Sampling Error: Comparing the mtDNA Genetic Bottleneck in Mice and.
Functional Analysis of the Neurofibromatosis Type 2 Protein by Means of Disease- Causing Point Mutations Renee P. Stokowski, David R. Cox The American.
Fragile X and X-Linked Intellectual Disability: Four Decades of Discovery Herbert A. Lubs, Roger E. Stevenson, Charles E. Schwartz The American Journal.
Novel PMS2 Pseudogenes Can Conceal Recessive Mutations Causing a Distinctive Childhood Cancer Syndrome Michel De Vos, Bruce E. Hayward, Susan Picton, Eamonn.
Alternative Splicing QTLs in European and African Populations Halit Ongen, Emmanouil T. Dermitzakis The American Journal of Human Genetics Volume 97, Issue.
Mutation of the Mitochondrial Tyrosyl-tRNA Synthetase Gene, YARS2, Causes Myopathy, Lactic Acidosis, and Sideroblastic Anemia—MLASA Syndrome Lisa G. Riley,
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Connexin Mutations in Skin Disease and Hearing Loss David P. Kelsell, Wei-Li Di, Mark J. Houseman The American Journal of Human Genetics Volume 68, Issue.
Differential Relationship of DNA Replication Timing to Different Forms of Human Mutation and Variation Amnon Koren, Paz Polak, James Nemesh, Jacob J. Michaelson,
Length Distributions of Identity by Descent Reveal Fine-Scale Demographic History Pier Francesco Palamara, Todd Lencz, Ariel Darvasi, Itsik Pe’er The American.
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A Multilocus Model of the Genetic Architecture of Autoimmune Thyroid Disorder, with Clinical Implications Veronica J. Vieland, Yungui Huang, Christopher.
Mutations in LARS2, Encoding Mitochondrial Leucyl-tRNA Synthetase, Lead to Premature Ovarian Failure and Hearing Loss in Perrault Syndrome Sarah B. Pierce,
PRIMUS: Rapid Reconstruction of Pedigrees from Genome-wide Estimates of Identity by Descent Jeffrey Staples, Dandi Qiao, Michael H. Cho, Edwin K. Silverman,
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The Duty to Recontact: Attitudes of Genetics Service Providers Jennifer L. Fitzpatrick, Cecil Hahn, Teresa Costa, Marlene J. Huggins The American Journal.
Peopling of Sahul: mtDNA Variation in Aboriginal Australian and Papua New Guinean Populations Alan J. Redd, Mark Stoneking The American Journal of Human.
Replication Stress Induces Genome-wide Copy Number Changes in Human Cells that Resemble Polymorphic and Pathogenic Variants Martin F. Arlt, Jennifer G.
Genome Scan Meta-Analysis of Schizophrenia and Bipolar Disorder, Part I: Methods and Power Analysis Douglas F. Levinson, Matthew D. Levinson, Ricardo Segurado,
Maple Syrup Urine Disease: Identification and Carrier-Frequency Determination of a Novel Founder Mutation in the Ashkenazi Jewish Population Lisa Edelmann,
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NEK1 Mutations Cause Short-Rib Polydactyly Syndrome Type Majewski Christian Thiel, Kristin Kessler, Andreas Giessl, Arno Dimmler, Stavit A. Shalev, Sigrun.
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Nuclear and Mitochondrial DNA Analysis of a 2,000-Year-Old Necropolis in the Egyin Gol Valley of Mongolia Christine Keyser-Tracqui, Eric Crubézy, Bertrand.
Mutations in Calmodulin Cause Ventricular Tachycardia and Sudden Cardiac Death Mette Nyegaard, Michael T. Overgaard, Mads T. Søndergaard, Marta Vranas,
Uncovering the Genetic History of the Present-Day Greenlandic Population Ida Moltke, Matteo Fumagalli, Thorfinn S. Korneliussen, Jacob E. Crawford, Peter.
A Spectrum of FOXC1 Mutations Suggests Gene Dosage as a Mechanism for Developmental Defects of the Anterior Chamber of the Eye Darryl Y. Nishimura, Charles.
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De Novo BRCA1 Mutation in a Patient with Breast Cancer and an Inherited BRCA2 Mutation Andrea Tesoriero, Chris Andersen, Melissa Southey, Gino Somers,
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Elevated Frequency and Allelic Heterogeneity of Congenital Nephrotic Syndrome, Finnish Type, in the Old Order Mennonites Stacey Bolk, Erik G. Puffenberger,
Design and Multiseries Validation of a Web-Based Gene Expression Assay for Predicting Breast Cancer Recurrence and Patient Survival Ryan K. Van Laar The.
Telomerase Activity and Expression of Telomerase RNA Component and Telomerase Catalytic Subunit Gene in Cervical Cancer Kenji Nakano, Elizabeth Watney,
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