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Hilary C. Martin on Muck Rack

Hilary C. Martin

Boulder
As seen in: Nature, JAMA Psychiatry, Science Magazine, GlobeNewswire, Cell Press, The American Journal of Human Genetics, medRxiv
NY PR gal who moved to Boulder. Same profession. Better office views. Often found playing outdoors, traveling the globe, seeing cool films & hiking the pup.
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Articles

Landscape of parental postzygotic mutations across >11,000 rare disease trios

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By O. Isaac Garcia-Salinas, Katrina Andrews, Rashesh Sanghvi, John Sayer, My Pham, Aylwyn Scally, Hilary C. Martin, Raheleh Rahbari
| The American Journal of Human Genetics Verified
Keywords postzygotic mosaicism early embryonic mutations whole-genome sequencing trio sequencing germline mutation rare disease genetics Main text Most heritable mutations arise in adult germ cells throughout aging and gametogenesis and are known as germline de novo mutations (DNMs).1,2 However, mutations can also arise as early as the first zygotic cell division. These are termed postzygotic mutations (PZMs).1,3,4,5 Depending on developmental timing, PZMs can be classified into two categories.
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Common and rare genetic variant associations with cognitive performance across development in British birth cohorts

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By Daniel S. Malawsky, Mahmoud Koko, Wei Huang, Olivia Wootton, qin huang, Emma Wade, Sarah J Lindsay, Rosalind Arden, Matthew E Hurles, Hilary C. Martin, Petr Danacek
| Nature Verified
Abstract Genetic variants that correlate with adult cognitive performance are also associated with rare neurodevelopmental conditions involving cognitive deficits in children. However, their association with cognition across early life remains poorly understood.
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Recurrent Copy Number Variants and Psychiatric Outcomes in the Context of Polygenic Scores

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By Morteza Vaez, Simone Montalbano, Ryan K. Waples, Morten Krebs, Kajsa-Lotta Georgii Hellberg, Jesper R. Gådin, Daniel Stow, Peter A Holmans, Anders D. Børglum, Dorte Helenius, Thomas Werge, Andrew J. Schork, Andrés Ingason, LINC Consortium, George G. Kirov, Michael Owen, James Walters, Jane Lynch, David van Heel, Sarah Finer, Nicholas J Timpson, John MacLeod Verified, Julie Clayton, Ruby Tsang, Jane Sprackman, Shahid Khan, Inês Barroso, Rupert A Payne, Mark A. Mon-Williams, Megan Wood, Nabila Ali, Hilary C. Martin, Lam O. Huang, Marianne van den Bree, Ioanna K. Katzourou, Golam M. Khandakar
| JAMA Psychiatry Verified
Recurrent Copy Number Variants and Psychiatric Outcomes in the Context of Polygenic Scores Supplement 1. eFigure 1. Associated Odds Ratios and Confidence Intervals Resulted From the Sensitivity Analysis for Grouping rCNVs Across 6 Different Approaches eFigure 2. Comparison of rCNV Group-Associated Absolute Risk Between SSD and SSD Without Comorbid Childhood-Onset Disorders in iPSYCH2015 eFigure 3.
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