Alec A. Weech

Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases

Loren D.M. Peña, Yong‐Hui Jiang, Kelly Schoch, Rebecca C. Spillmann et autres

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MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome

Julia Wang, Rami Al‐Ouran, Yanhui Hu, Seon‐Young Kim et autres

One major challenge encountered with interpreting human genetic variants is the limited understanding of the functional impact of genetic alterations on biological processes. Furthermore, there remains an unmet demand for an efficient survey of the wealth of information on human homologs in …

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The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease

Rachel Ramoni, John J. Mulvihill, David R. Adams, Patrick Allard et autres

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A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay

Kelly Schoch, Linyan Meng, Szabolcs Szelinger, David Bearden et autres

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A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3

Hsiao‐Tuan Chao, Mariska Davids, Elizabeth A. Burke, John Pappas et autres

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De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype

Vandana Shashi, Katherine Kim, Barbara K. Burton, Maja Hempel et autres

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Mitochondrial epileptic encephalopathy, 3‐methylglutaconic aciduria and variable complex V deficiency associated with TIMM50 mutations

Maher Shahrour, Orna Staretz‐Chacham, Danit Dayan, Josiah Stephen et autres

Mitochondrial encephalopathies are a heterogeneous group of disorders that, usually carry grave prognosis. Recently a homozygous mutation, Gly372Ser, in the TIMM50 gene, was reported in an abstract form, in three sibs who suffered from intractable epilepsy and developmental delay accompanied by 3-methylglutaconic …

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P1‐102: Building a Testable Mathematical Model for Alzheimer’s Disease Using Gene Expression Changes and Biochemical Systems Theory (BST)

Randolph A. Coleman, Ceyda Durmaz, Alec A. Weech, Frank J. Castora

Abnormal mitochondrial function has become recognized as a critical component in the pathogenesis of a variety of neurodegenerative diseases, including AD. We have recently found abnormal expression of several genes critical to mitochondrial energy production and biogenesis in AD brains. Using this …

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Strictly Speaking: Will America Be the Death of English?

Alec A. Weech

To a former editor of theJournalwho in the daily review of manuscripts encountered countless errors in grammar, syntax, paragraphing, paragraph structuring, punctuation, and spelling, to one who has been made weary by excessive redundancy and by the needless repetition of a single …

Katharine Dodd

Alec A. Weech

SCIENTIFIC TRUTH AND THE VOX POPULI: Editorial Comment

Alec A. Weech

A NUMBER of times each year the postman delivers to each of us a fact-finding questionnaire. Some of these inquisitions emanate from commercial firms and represent a subtle way of advertising a product about which the queries are clustered. I respect and …

SCIENTIFIC TRUTH AND THE VOX POPULI

Alec A. Weech

A NUMBER of times each year the postman delivers to each of us a fact-finding questionnaire. Some of these inquisitions emanate from commercial firms and represent a subtle way of advertising a product about which the queries are clustered. I respect and …

us (code pays fourni par la source)