Publications by authors named "Leandros Boukas"

6Publications

Promoter CpG Density Predicts Downstream Gene Loss-of-Function Intolerance.

Authors:
Leandros Boukas Hans T Bjornsson Kasper D Hansen

Am J Hum Genet 2020 09 14;107(3):487-498. Epub 2020 Aug 14.

Department of Genetic Medicine, Johns Hopkins University School of Medicine, 733 N Broadway, Baltimore, MD 21205, USA; Department of Biostatistics, Johns Hopkins Bloomberg School of Public Health, 615 N. Wolfe St, Baltimore, MD 21205, USA. Electronic address:

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September 2020

Precocious chondrocyte differentiation disrupts skeletal growth in Kabuki syndrome mice.

Authors:
Jill A Fahrner Wan-Ying Lin Ryan C Riddle Leandros Boukas Valerie B DeLeon Sheetal Chopra Susan E Lad Teresa Romeo Luperchio Kasper D Hansen Hans T Bjornsson

JCI Insight 2019 10 17;4(20). Epub 2019 Oct 17.

McKusick-Nathans Institute of Genetic Medicine.

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October 2019

A screen of 1,049 schizophrenia and 30 Alzheimer's-associated variants for regulatory potential.

Authors:
Leslie Myint Ruihua Wang Leandros Boukas Kasper D Hansen Loyal A Goff Dimitrios Avramopoulos

Am J Med Genet B Neuropsychiatr Genet 2020 01 10;183(1):61-73. Epub 2019 Sep 10.

McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins School of Medicine, Baltimore, Maryland.

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January 2020

Precocious neuronal differentiation and disrupted oxygen responses in Kabuki syndrome.

Authors:
Giovanni A Carosso Leandros Boukas Jonathan J Augustin Ha Nam Nguyen Briana L Winer Gabrielle H Cannon Johanna D Robertson Li Zhang Kasper D Hansen Loyal A Goff Hans T Bjornsson

JCI Insight 2019 10 17;4(20). Epub 2019 Oct 17.

McKusick-Nathans Institute of Genetic Medicine.

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October 2019

Coexpression patterns define epigenetic regulators associated with neurological dysfunction.

Authors:
Leandros Boukas James M Havrilla Peter F Hickey Aaron R Quinlan Hans T Bjornsson Kasper D Hansen

Genome Res 2019 04 11;29(4):532-542. Epub 2019 Mar 11.

McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA.

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April 2019

Missense variants in the chromatin remodeler are associated with neurodevelopmental disability.

Authors:
Genay O Pilarowski Hilary J Vernon Carolyn D Applegate Leandros Boukas Megan T Cho Christina A Gurnett Paul J Benke Erin Beaver Jennifer M Heeley Livija Medne Ian D Krantz Meron Azage Dmitriy Niyazov Lindsay B Henderson Ingrid M Wentzensen Berivan Baskin Maria J Guillen Sacoto Gregory D Bowman Hans T Bjornsson

J Med Genet 2018 08 2;55(8):561-566. Epub 2017 Sep 2.

McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland, USA.

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August 2018