Outputs for Texas Children's Hospital, BCM

1 August 2019 - 31 July 2020

United States of America (USA)

Country: United States Of America (USA)

Sector: Healthcare

Subject/journal group: All

Count Share
128 10.33

The research outputs below are grouped by journal. Click on the journal to view the list of articles.

Journal Count Share
American Journal of Human Genetics 10 0.45
De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation.
2020-03-16
0.11
Bi-allelic LoF NRROS Variants Impairing Active TGF-β1 Delivery Cause a Severe Infantile-Onset Neurodegenerative Condition with Intracranial Calcification.
2020-03-13
0.03
Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism.
2020-01-20
0.01
Validation Studies for Single Circulating Trophoblast Genetic Testing as a Form of Noninvasive Prenatal Diagnosis.
2019-11-26
0.05
Loss of Oxidation Resistance 1, OXR1, Is Associated with an Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal Dysfunction.
2019-11-25
0.11
Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder.
2019-10-23
0.01
A Genocentric Approach to Discovery of Mendelian Disorders.
2019-10-16
0.03
Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders.
2019-10-15
0.01
Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature.
2019-09-27
0.08
Heterozygous FOXN1 Variants Cause Low TRECs and Severe T Cell Lymphopenia, Revealing a Crucial Role of FOXN1 in Supporting Early Thymopoiesis.
2019-08-13
0.03
Cancer Cell 4 0.24
Cancer Research 4 0.09
Cell 5 0.19
Cell Stem Cell 2 0.11
Developmental Cell 1 0.12
Genes & Development 1 0.02
Genome Research 1 0.27
Journal of Biological Chemistry 2 0.28
Journal of Cell Biology 1 0.06
Journal of Clinical Investigation 8 0.80
Journal of Experimental Medicine 2 0.04
Journal of Neuroscience 2 0.40
Molecular Cell 3 0.07
Molecular Psychiatry 5 0.47
Nature 8 0.36
Nature Biotechnology 1 0.24
Nature Cell Biology 3 0.14
Nature Communications 28 1.84
Nature Genetics 1 0
Nature Medicine 3 0.11
Nature Neuroscience 1 0.04
Neuron 4 0.69
PLOS Genetics 1 0.02
Proceedings of the National Academy of Sciences of the United States of America 9 0.48
Science 2 0.11
Science Advances 3 0.65
Science Translational Medicine 4 0.46
The EMBO Journal 2 0.02
eLife 7 1.55

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