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    Academic Journals

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• Whole-exome sequencing improves the diagnosis and care of men with non-obstructive azoospermia.

  Authors:Zine-Eddine Kherraf, Caroline Cazin, Amine Bouker, Selima Fourati Ben Mustapha, Sylviane Hennebicq, Amandine Septier, et al.From:American Journal of Human Genetics (Vol. 109, Issue 3) Peer-Reviewed

  Mar. 3, 2022385 words Report

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• 2021 Curt Stern Award: Studying the biology of "junk".

  Author:Emmanouil T. DermitzakisFrom:American Journal of Human Genetics (Vol. 109, Issue 3) Peer-Reviewed

  Mar. 3, 202278 words Brief article

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• Family secrets: Experiences and outcomes of participating in direct-to-consumer genetic relative-finder services.

  Authors:Christi J. Guerrini, Jill O. Robinson, Cinnamon C. Bloss, Whitney Bash Brooks, Stephanie M. Fullerton, Brianne Kirkpatrick, et al.From:American Journal of Human Genetics (Vol. 109, Issue 3) Peer-Reviewed

  Mar. 3, 2022415 words Report

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• Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity.

  Authors:Mathieu Quinodoz, Virginie G. Peter, Katarina Cisarova, Beryl Royer-Bertrand, Peter D. Stenson, David N. Cooper, et al.From:American Journal of Human Genetics (Vol. 109, Issue 3) Peer-Reviewed

  Mar. 3, 2022331 words Report, Brief articl...

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• Leveraging gene co-regulation to identify gene sets enriched for disease heritability.

  Authors:Katherine M. Siewert-Rocks, Samuel S. Kim, Douglas W. Yao, Huwenbo Shi, and Alkes L. PriceFrom:American Journal of Human Genetics (Vol. 109, Issue 3) Peer-Reviewed

  Mar. 3, 2022385 words Report, Brief articl...

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• Partitioning gene-mediated disease heritability without eQTLs.

  Authors:Daniel J. Weiner, Steven Gazal, Elise B. Robinson, and Luke J. O'ConnorFrom:American Journal of Human Genetics (Vol. 109, Issue 3) Peer-Reviewed

  Mar. 3, 2022325 words Report, Brief articl...

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• 2021 ASHG presidential address--Imagination and daring: Past, present, and future.

  Author:Gail P. JarvikFrom:American Journal of Human Genetics (Vol. 109, Issue 3) Peer-Reviewed

  Mar. 3, 202271 words Brief article

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• GWAS of longitudinal trajectories at biobank scale.

  Authors:Seyoon Ko, Christopher A. German, Aubrey Jensen, Judong Shen, Anran Wang, Devan V. Mehrotra, et al.From:American Journal of Human Genetics (Vol. 109, Issue 3) Peer-Reviewed

  Mar. 3, 2022423 words Report

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• Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticity.

  Authors:Alina Kurolap, Florian Kreuder, Claudia Gonzaga-Jauregui, Morasha Plesser Duvdevani, Tamar Harel, Luna Tammer, et al.From:American Journal of Human Genetics (Vol. 109, Issue 3) Peer-Reviewed

  Mar. 3, 2022795 words Article

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• The annual ASHG dinner.

  Authors:Kathleen A. Leppig, Sharon E. Plon, Dianna M. Milewicz, Ephrat Levy-Lahad, and Gail P. JarvikFrom:American Journal of Human Genetics (Vol. 109, Issue 3) Peer-Reviewed

  Mar. 3, 2022144 words Brief article

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• 2021 Allan Award.

  Author:C. Thomas CaskeyFrom:American Journal of Human Genetics (Vol. 109, Issue 3) Peer-Reviewed

  Mar. 3, 202281 words Brief article

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• 2021 ASHG awards and addresses.

  From:American Journal of Human Genetics (Vol. 109, Issue 3) Peer-Reviewed

  Mar. 3, 202283 words Brief article

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• The CGG repeat expansion in RILPL1 is associated with oculopharyngodistal myopathy type 4.

  Authors:Jiaxi Yu, Jingli Shan, Meng Yu, Li Di, Zhiying Xie, Wei Zhang, et al.From:American Journal of Human Genetics (Vol. 109, Issue 3) Peer-Reviewed

  Mar. 3, 2022416 words Report

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• A functional genomics approach in Tanzanian population identifies distinct genetic regulators of cytokine production compared to European population.

  Authors:Collins K. Boahen, Godfrey S. Temba, Vesla I. Kullaya, Vasiliki Matzaraki, Leo A.B. Joosten, Gibson Kibiki, et al.From:American Journal of Human Genetics (Vol. 109, Issue 3) Peer-Reviewed

  Mar. 3, 2022459 words Report

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• Accounting for age of onset and family history improves power in genome-wide association studies.

  Authors:Emil M. Pedersen, Esben Agerbo, Oleguer Plana-Ripoll, Jakob Grove, Julie W. Dreier, Katherine L. Musliner, et al.From:American Journal of Human Genetics (Vol. 109, Issue 3) Peer-Reviewed

  Mar. 3, 2022548 words Report

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• Personalized genetic counseling for Stargardt disease: Offspring risk estimates based on variant severity.

  Authors:Stéphanie S. Cornelis, Esmee H. Runhart, Miriam Bauwens, Zelia Corradi, Elfride De Baere, Susanne Roosing, et al.From:American Journal of Human Genetics (Vol. 109, Issue 3) Peer-Reviewed

  Mar. 3, 2022399 words Report, Brief articl...

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• 2021 McKusick Leadership Award: Learning from communities.

  Author:Wylie BurkeFrom:American Journal of Human Genetics (Vol. 109, Issue 3) Peer-Reviewed

  Mar. 3, 202261 words Brief article

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• A multi-dimensional integrative scoring framework for predicting functional variants in the human genome.

  Authors:Xihao Li, Godwin Yung, Hufeng Zhou, Ryan Sun, Zilin Li, Kangcheng Hou, et al.From:American Journal of Human Genetics (Vol. 109, Issue 3) Peer-Reviewed

  Mar. 3, 2022410 words Report

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