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Human Genetics

JournalCitation impact & published research

Human Genetics is a journal indexed in ScholarIQ from OpenAlex.

What is the OpenAlex record for Human Genetics?

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The OpenAlex for Human Genetics is on the source record.

What are the most-cited papers on Human Genetics?

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Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss
Christina Sloan-Heggen, Amanda O. Bierer, A. Eliot Shearer, Diana L. Kolbe, Carla Nishimura, Kathy L. Frees, Sean S. Ephraim, Seiji B. Shibata, Kevin T. Booth, Colleen A. Campbell, Paul T. Ranum, Amy E. Weaver, E. Ann Black-Ziegelbein, Donghong Wang, Héla Azaiez, Richard J. Smith
Human Genetics. 2016598 CitationsOPEN ACCESS
Efficient direct chromosome analyses and enzyme determinations from chorionic villi samples in the first trimester of pregnancy
Giuseppe Simoni, B. Brambati, Cesare Danesino, F. Rossella, G. L. Terzoli, Maurizio Ferrari, M. Fraccaro
Human Genetics. 1983486 Citations
Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number
B. Wirth, Lars Brichta, Berthold Schrank, Hanns Lochmüller, Serjosha Blick, A. Baasner, Raoul Heller
Human Genetics. 2006354 Citations
Population stratification confounds genetic association studies among Latinos
Shweta Choudhry, Natasha Coyle, Hua Tang, Keyan Salari, Denise L. Lind, Suzanne Clark, Hui‐Ju Tsai, Mariam Naqvi, Angie Phong, Ngim Ung, Henry Matallana, Pedro C. Avila, Jesús Casal, Alfonso Torres, Sylvette Nazario, Richard A. Castro, Natalie C. Battle, Eliseo J. Pérez‐Stable, Pui–Yan Kwok, Dean Sheppard, Mark D. Shriver, William Rodríguez-Cintrón, Neil Risch, Elad Ziv, Esteban G. Burchard, Genetics of Asthma in Latino Americans (GALA) Study
Human Genetics. 2005262 Citations
Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy
The GPN Study Group, Jan Halbritter, Jonathan D. Porath, Katrina A. Diaz, Daniela A. Braun, Stefan Kohl, Moumita Chaki, Susan J. Allen, Neveen A. Soliman, Friedhelm Hildebrandt, Edgar A. Otto
Human Genetics. 2013236 Citations

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