John H. Postlethwait

A non-invasive method to genotype cephalopod sex by quantitative PCR

Frederick A. Rubino, Gabrielle C. Coffing, Connor J. Gibbons, Scott T. Small et autres

Summary Coleoid cephalopods (cuttlefish, octopus, and squid) are emerging model organisms in neuroscience, development, and evolutionary biology, and are of major economic importance in global fisheries. However, they are notoriously difficult and expensive to culture. The ability to determine sex early in …

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One is the loneliest number: genotypic matchmaking using the electronic health record

Elly Brokamp, Mary E. Koziura, Leigh Anne Tang, Joy D. Cogan et autres

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Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision

Dustin Baldridge, Michael F. Wangler, Angela N. Bowman, Shinya Yamamoto et autres

Decreased sequencing costs have led to an explosion of genetic and genomic data. These data have revealed thousands of candidate human disease variants. Establishing which variants cause phenotypes and diseases, however, has remained challenging. Significant progress has been made, including advances by …

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De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Callosum, Axon, Cardiac, Ocular, and Genital Defects

Andrea Accogli, Sara Calabretta, Judith St‐Onge, Nassima Boudrahem‐Addour et autres

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De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia

Oguz Kanca, Jonathan C. Andrews, Pei-Tseng Lee, Chirag Patel et autres

Genomics in medicine: a novel elective rotation for internal medicine residents

Linda N. Geng, Jennefer N. Kohler, Peter J. Levonian, Jonathan Adam Bernstein et autres

It is well recognised that medical training globally and at all levels lacks sufficient incorporation of genetics and genomics education to keep up with the rapid advances and growing application of genomics to clinical care. However, the best strategy to implement these …

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Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling

Brett V. Johnson, Raman Kumar, Sabrina Oishi, Suzy Alexander et autres

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Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy

Aashim Bhatia, Bret C. Mobley, Joy D. Cogan, Mary E. Koziura et autres

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Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis

Vandana Shashi, Janelle Geist, Youngha Lee, Yongjin Yoo et autres

Encoding the slow skeletal muscle isoform of myosin binding protein-C, MYBPC1 is associated with autosomal dominant and recessive forms of arthrogryposis. The authors describe a novel association for MYBPC1 in four patients from three independent families with skeletal muscle weakness, myogenic tremors, …

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Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease

Kimberly Splinter, David R. Adams, Carlos A. Bacino, Hugo Jozef Bellen et autres

BACKGROUND: Many patients remain without a diagnosis despite extensive medical evaluation. The Undiagnosed Diseases Network (UDN) was established to apply a multidisciplinary model in the evaluation of the most challenging cases and to identify the biologic characteristics of newly discovered diseases. The …

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IRF2BPL Is Associated with Neurological Phenotypes

Paul C. Marcogliese, Vandana Shashi, Rebecca C. Spillmann, Nicholas Stong et autres

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Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder

Monika Oláhová, Wan Hee Yoon, Kyle Thompson, Sharayu V. Jangam et autres

ATP synthase, H + transporting, mitochondrial F1 complex, δ subunit (ATP5F1D; formerly ATP5D) is a subunit of mitochondrial ATP synthase and plays an important role in coupling proton translocation and ATP production. Here, we describe two individuals, each with homozygous missense variants …

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