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Recent progress in the molecular genetics of congenital heart defects.
- Published in:
- Clinical Genetics, 1998, v. 54, n. 1, p. 11, doi. 10.1111/j.1399-0004.1998.tb03685.x
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- Publication type:
- Article
Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort.
- Published in:
- Nucleic Acids Research, 2017, v. 45, n. 4, p. 1633, doi. 10.1093/nar/gkw1237
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- Publication type:
- Article
The Twiddling Andersen.
- Published in:
- 2009
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- Publication type:
- Case Study
Recurrent mosaic MTOR c.5930C > T (p.Thr1977Ile) variant causing megalencephaly, asymmetric polymicrogyria, and cutaneous pigmentary mosaicism: Case report and review of the literature.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 3, p. 475, doi. 10.1002/ajmg.a.61007
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- Publication type:
- Article
Atypical presentation of moyamoya disease in an infant with a de novo RNF213 variant.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2742, doi. 10.1002/ajmg.a.37230
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- Publication type:
- Article
Childhood onset of left ventricular dysfunction in a female manifesting carrier of muscular dystrophy.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 3025, doi. 10.1002/ajmg.a.33784
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- Publication type:
- Article
Replicative mechanisms for CNV formation are error prone.
- Published in:
- Nature Genetics, 2013, v. 45, n. 11, p. 1319, doi. 10.1038/ng.2768
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- Publication type:
- Article
Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome.
- Published in:
- Nature Genetics, 2011, v. 43, n. 11, p. 1074, doi. 10.1038/ng.944
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- Publication type:
- Article
A Genome-Wide Screen for Large-Effect Alloimmunization Susceptibility Loci among Red Blood Cell Transfusion Recipients with Sickle Cell Disease.
- Published in:
- Transfusion Medicine & Hemotherapy, 2014, v. 41, n. 6, p. 453, doi. 10.1159/000369079
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- Publication type:
- Article
DNA methylation and obesity in survivors of pediatric acute lymphoblastic leukemia: A report from the Childhood Cancer Survivor Study.
- Published in:
- Genes, Chromosomes & Cancer, 2019, v. 58, n. 1, p. 52, doi. 10.1002/gcc.22701
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- Publication type:
- Article
Analysis of East Asia Genetic Substructure Using Genome-Wide SNP Arrays.
- Published in:
- PLoS ONE, 2008, v. 3, n. 12, p. 1, doi. 10.1371/journal.pone.0003862
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- Publication type:
- Article
Antibody Correlates and Predictors of Immunity to Naturally Occurring Influenza in Humans and the Importance of Antibody to the Neuraminidase.
- Published in:
- Journal of Infectious Diseases, 2013, v. 207, n. 6, p. 974, doi. 10.1093/infdis/jis935
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- Publication type:
- Article
Antibody correlates and predictors of immunity to naturally occurring influenza in humans and the importance of antibody to the neuraminidase.
- Published in:
- 2013
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- Publication type:
- journal article
Early Patterns of Gene Expression Correlate With the Humoral Immune Response to Influenza Vaccination in Humans.
- Published in:
- Journal of Infectious Diseases, 2011, v. 203, n. 7, p. 921, doi. 10.1093/infdis/jiq156
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- Publication type:
- Article
Gene therapy: A new approach for the treatment of genetic disorders.
- Published in:
- Clinical Pharmacology & Therapeutics, 1990, v. 47, n. 1, p. 1, doi. 10.1038/clpt.1990.1
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- Publication type:
- Article
Expression of human adenosine deaminase in murine haematopoietic progenitor cells following retroviral transfer.
- Published in:
- Nature, 1986, v. 322, n. 6077, p. 385, doi. 10.1038/322385a0
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- Publication type:
- Article
Examination of ancestry and ethnic affiliation using highly informative diallelic DNA markers: application to diverse and admixed populations and implications for clinical epidemiology and forensic medicine.
- Published in:
- Human Genetics, 2005, v. 118, n. 3/4, p. 382, doi. 10.1007/s00439-005-0012-1
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- Publication type:
- Article
Mexican American ancestry-informative markers: examination of population structure and marker characteristics in European Americans, Mexican Americans, Amerindians and Asians.
- Published in:
- Human Genetics, 2004, v. 114, n. 3, p. 263, doi. 10.1007/s00439-003-1058-6
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- Publication type:
- Article
Supravalvular aortic stenosis: genetic and molecular dissection of a complex mutation in the elastin gene.
- Published in:
- Human Genetics, 2001, v. 109, n. 5, p. 512, doi. 10.1007/s00439-001-0608-z
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- Publication type:
- Article
Best practices for the interpretation and reporting of clinical whole genome sequencing.
- Published in:
- NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00295-z
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- Publication type:
- Article
The diagnostic trajectory of infants and children with clinical features of genetic disease.
- Published in:
- NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00260-2
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- Publication type:
- Article
Clinical utility of genomic sequencing: a measurement toolkit.
- Published in:
- NPJ Genomic Medicine, 2020, v. 5, n. 1, p. 1, doi. 10.1038/s41525-020-00164-7
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- Publication type:
- Article
Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline disease.
- Published in:
- NPJ Genomic Medicine, 2020, v. 5, n. 1, p. N.PAG, doi. 10.1038/s41525-020-00154-9
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- Publication type:
- Article
Clinical whole genome sequencing as a first-tier test at a resource-limited dysmorphology clinic in Mexico.
- Published in:
- NPJ Genomic Medicine, 2019, v. 4, n. 1, p. N.PAG, doi. 10.1038/s41525-018-0076-1
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- Publication type:
- Article
Clinical whole genome sequencing as a first-tier test at a resource-limited dysmorphology clinic in Mexico.
- Published in:
- NPJ Genomic Medicine, 2019, v. 4, n. 1, p. N.PAG, doi. 10.1038/s41525-018-0076-1
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- Publication type:
- Article
Linkage analysis of left ventricular outflow tract malformations (aortic valve stenosis, coarctation of the aorta, and hypoplastic left heart syndrome).
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 6, p. 811, doi. 10.1038/ejhg.2008.255
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- Publication type:
- Article
Genetics of human heterotaxias.
- Published in:
- European Journal of Human Genetics, 2006, v. 14, n. 1, p. 17, doi. 10.1038/sj.ejhg.5201506
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- Publication type:
- Article
The Expansion of Genetic Testing in Cardiovascular Medicine: Preparing the Cardiology Community for the Changing Landscape.
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- Current Cardiology Reports, 2024, v. 26, n. 3, p. 135, doi. 10.1007/s11886-023-02003-4
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- Publication type:
- Article
Phenotypic expansion in DDX3X – a common cause of intellectual disability in females.
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- Annals of Clinical & Translational Neurology, 2018, v. 5, n. 10, p. 1277, doi. 10.1002/acn3.622
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- Publication type:
- Article
Middle ear microbiome differences in indigenous Filipinos with chronic otitis media due to a duplication in the A2ML1 gene.
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- Infectious Diseases of Poverty, 2016, v. 5, p. 1, doi. 10.1186/s40249-016-0189-7
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- Publication type:
- Article
The phosphatase JKAP/DUSP22 inhibits T-cell receptor signalling and autoimmunity by inactivating Lck.
- Published in:
- Nature Communications, 2014, v. 5, n. 4, p. 3618, doi. 10.1038/ncomms4618
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- Publication type:
- Article
SHROOM3 is a novel candidate for heterotaxy identified by whole exome sequencing.
- Published in:
- Genome Biology, 2011, v. 12, n. 9, p. 1, doi. 10.1186/gb-2011-12-9-r91
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- Publication type:
- Article
Congenital sucrase-isomaltase deficiency presenting with failure to thrive, hypercalcemia, and nephrocalcinosis.
- Published in:
- BMC Pediatrics, 2002, v. 2, p. 4, doi. 10.1186/1471-2431-2-4
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- Publication type:
- Article
Host Transcriptional Response to Influenza and Other Acute Respiratory Viral Infections – A Prospective Cohort Study.
- Published in:
- PLoS Pathogens, 2015, v. 11, n. 6, p. 1, doi. 10.1371/journal.ppat.1004869
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- Publication type:
- Article
Heart defects in X‐linked heterotaxy: Evidence for a genetic interaction of Zic3 with the nodal signaling pathwayThis article was accepted for inclusion in Developmental Dynamics 235 #1 –Cardiovascular Special Issue.
- Published in:
- Developmental Dynamics, 2006, v. 235, n. 6, p. 1631
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- Publication type:
- Article
Zic3 is critical for early embryonic patterning during gastrulation.
- Published in:
- Developmental Dynamics, 2006, v. 235, n. 3, p. 776
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- Publication type:
- Article
The International HapMap Project.
- Published in:
- Nature, 2003, v. 426, n. 6968, p. 789, doi. 10.1038/nature02168
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- Publication type:
- Article
Further Considerations on the Value of Whole-Genome Sequencing in Critically Ill Infants—Reply.
- Published in:
- JAMA Pediatrics, 2022, v. 176, n. 4, p. 422, doi. 10.1001/jamapediatrics.2021.6283
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- Publication type:
- Article
Zic3 is required in the extra-cardiac perinodal region of the lateral plate mesoderm for left–right patterning and heart development.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 5, p. 879, doi. 10.1093/hmg/dds494
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- Publication type:
- Article
Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 10, p. 1975, doi. 10.1093/hmg/ddr078
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- Publication type:
- Article
Recurrent partial rhombencephalosynapsis and holoprosencephaly in siblings with a mutation of ZIC2.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 7, p. 1574, doi. 10.1002/ajmg.a.34029
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- Publication type:
- Article
Left ventricular noncompaction in Sotos syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 5, p. 1115, doi. 10.1002/ajmg.a.33838
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- Publication type:
- Article
Suspected trisomy 22: Modification, clarification, or confirmation of the diagnosis by aCGH.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 2, p. 434, doi. 10.1002/ajmg.a.33792
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- Publication type:
- Article
Recurrent Chromosome 16p13.1 Duplications Are a Risk Factor for Aortic Dissections.
- Published in:
- PLoS Genetics, 2011, v. 7, n. 6, p. 1, doi. 10.1371/journal.pgen.1002118
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- Publication type:
- Article
Low Levels of Genetic Divergence across Geographically and Linguistically Diverse Populations from India.
- Published in:
- PLoS Genetics, 2006, v. 3, n. 6, p. 2052, doi. 10.1371/journal.pgen.0020215
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- Publication type:
- Article
European Population Substructure: Clustering of Northern and Southern Populations.
- Published in:
- PLoS Genetics, 2006, v. 3, n. 3, p. e143, doi. 10.1371/journal.pgen.0020143
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- Publication type:
- Article
Ancestry informative marker sets for determining continental origin and admixture proportions in common populations in America.
- Published in:
- Human Mutation, 2009, v. 30, n. 1, p. 69, doi. 10.1002/humu.20822
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- Publication type:
- Article
Characterization of the interactions of human ZIC3 mutants with GLI3.
- Published in:
- Human Mutation, 2008, v. 29, n. 1, p. 99, doi. 10.1002/humu.20606
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- Publication type:
- Article
Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 5, p. 861, doi. 10.1093/hmg/ddn411
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- Publication type:
- Article
NOTCH1 mutations in individuals with left ventricular outflow tract malformations reduce ligand-induced signaling.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 18, p. 2886, doi. 10.1093/hmg/ddn187
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- Publication type:
- Article