BMPR1B gene in brachydactyly type 2–A family with de novo R486W mutation and a disease phenotype by Marcin Bednarek, Marek Trybus, Monika Kolanowska, Mateusz Koziej, Beata Kiec‐Wilk, Artur Dobosz, Marta Kotlarek‐Łysakowska, Anna Kubiak‐Dydo, Ewelina Użarowska‐Gąska, Julia Staręga‐Rosłan, Paweł Gaj, Izabela Górzyńska, Katarzyna Serwan, Michał Świerniak, Adam Kot, Krystian Jażdżewski, Anna Wójcicka

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Whole-exome sequencing study of hypospadias by Zhongzhong Chen, Yunping Lei, Richard H. Finnell, Yu Ding, Zhixi Su, Yaping Wang, Hua Xie, Fang Chen

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Linking genotype to trophoblast phenotype in preeclampsia and HELLP syndrome associated with STOX1 genetic variants by Lorenzo Costa, Luis Bermudez-Guzman, Ikram Benouda, Paul Laissue, Adrien Morel, Karen Marcela Jiménez, Thierry Fournier, Laurence Stouvenel, Céline Méhats, Francisco Miralles, Daniel Vaiman

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Characterization of Arabian Peninsula whole exomes: Contributing to the catalogue of human diversity by Joana C. Ferreira, Farida Alshamali, Luisa Pereira, Veronica Fernandes

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Genome-scale modeling predicts metabolic differences between macrophage subtypes in colorectal cancer by Patrick E. Gelbach, Stacey D. Finley

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Federated generalized linear mixed models for collaborative genome-wide association studies by Wentao Li, Han Chen, Xiaoqian Jiang, Arif Harmanci

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Flanking heterozygosity influences the relative probability of different base substitutions in humans by William Amos

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Onchocerca±Simulium complexes in Venezuela: can human onchocerciasis spread outside its present endemic areas?

Subjects: “…Human Genetics (Wellcome Trust Centre for Medical Oncology)…”

Altered intrathalamic GABAA neurotransmission in a mouse model of a human genetic absence epilepsy syndrome by Chengwen Zhou, Li Ding, M. Elizabeth Deel, Elizabeth A. Ferrick, Ronald B. Emeson, Martin J. Gallagher

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Constructing a database for the relations between CNV and human genetic diseases via systematic text mining by Xi Yang, Zhuo Song, Chengkun Wu, Wei Wang, Gen Li, Wei Zhang, Lingqian Wu, Kai Lu

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Open science and human genetic data: recommendations on South Africa’s Draft National Open Science Policy by Donrich Thaldar, Donrich Thaldar, Amy Gooden, Michaela Steytler

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A genome-wide survey of segmental duplications that mediate common human genetic variation of chromosomal architecture by Mehan Michael R, Freimer Nelson B, Ophoff Roel A

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Human Genetic Ancestral Composition Correlates with the Origin of Mycobacterium leprae Strains in a Leprosy Endemic Population. by Nora Cardona-Castro, Edwin Cortés, Camilo Beltrán, Marcela Romero, Jaime E Badel-Mogollón, Gabriel Bedoya

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Rapid Generation of Human Genetic Loss-of-Function iPSC Lines by Simultaneous Reprogramming and Gene Editing by Andrew M. Tidball, Louis T. Dang, Trevor W. Glenn, Emma G. Kilbane, Daniel J. Klarr, Joshua L. Margolis, Michael D. Uhler, Jack M. Parent

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A genome-wide association study reveals the relationship between human genetic variation and the nasal microbiome by Xiaomin Liu, Xin Tong, Leying Zou, Yanmei Ju, Mingliang Liu, Mo Han, Haorong Lu, Huanming Yang, Jian Wang, Yang Zong, Weibin Liu, Xun Xu, Xin Jin, Liang Xiao, Huijue Jia, Ruijin Guo, Tao Zhang

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Mouse and human genetic analyses associate kalirin with ventral striatal activation during impulsivity and with alcohol misuse by Yolanda ePeña-Oliver, Fabiana M Carvalho, Fabiana M Carvalho, Sandra eSanchez-Roige, Erin B Quinlan, Erin B Quinlan, Tianye eJia, Tianye eJia, Tom eWalker-Tilley, Tom eWalker-Tilley, Stuart L Rulten, Frances ePearl, Tobias eBanaschewski, Gareth eBarker, Arun eBokde, Christian eBüchel, Patricia eConrod, Patricia eConrod, Herta eFlor, Jürgen eGallinat, Hugh eGaravan, Hugh eGaravan, Andreas eHeinz, Penny eGowland, Marie-Laure ePaillere, Tomas ePaus, Tomas ePaus, Tomas ePaus, Marcella eRietschel, Trevor W Robbins, Michael N Smolka, Gunter eSchumann, Gunter eSchumann, Dai N Stephens

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Human Genetic Information, Genetic Registers and the Subpoena Duces Tecum: Balancing Privacy, Confidentiality and the Administration of Justice by William Keough

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Amniotic fluid stem cell models: A tool for filling the gaps in knowledge for human genetic diseases by Ivana Antonucci, Marci G Crowley, Liborio Stuppia

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Novel human genetic variants associated with extrapulmonary tuberculosis: a pilot genome wide association study by Holland Steven M, Levy Shawn, Antas Paulo RZ, Motsinger-Reif Alison A, Oki Noffisat O, Sterling Timothy R

“…Both linkage and association studies have identified human genetic variants associated with susceptibility to pulmonary tuberculosis, but few genetic studies have evaluated extrapulmonary disease. …”
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The applications of massive parallel sequencing (next-generation sequencing) in research and molecular diagnosis of human genetic diseases by Hieu T. Nguyen, Huong T.T. Le, Liem T. Nguyen, Hua Lou, Thomas LaFramboise

Subjects: “…human genetic diseases…”
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