American journal of human genetics

Rank: 30.37 /
Indexings
ncbi ulakbim MEP: 5.271 Ödeme: 15000 Yılı: 2020 sci
Short Name Am J Hum Genet
Abbreviated Name am j hum genet
ISSN 0002-9297
Aim and Scope
URL
Author Instructions

Publications Per Year

Top 10 Most Clicked Articles

1994 Nyström-Lahti M, Parsons R, Sistonen P, Pylkkänen L, Aaltonen LA, Leach FS, Hamilton SR, Watson P, Bronson E, Fusaro R, ,

Mismatch repair genes on chromosomes 2p and 3p account for a major share of hereditary nonpolyposis colorectal cancer families evaluable by linkage ,

55: -
Clicks: 281
2019 Smith, I.

Conformational Dynamics and Allosteric Regulation Landscapes of Germline PTEN Mutations Associated with Autism Compared to Those Associated with Cancer ,

104: 861-878
Clicks: 278
1997 Carlson, C, Sirotkin, H, Pandita, R, Goldberg, R, McKie, J, Wadey, R, Patanjali, S R, Weissman, S M, Anyane-Yeboa, K, Warburton, D, Scambler, P, Shprintzen, R, Kucherlapati, R, Morrow, B E,

Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients. ,

61: 620-9
Clicks: 275
2019 O'Donnell-Luria, Anne H, Pais, Lynn S, Faundes, Víctor, Wood, Jordan C, Sveden, Abigail, Luria, Victor, Abou Jamra, Rami, Accogli, Andrea, Amburgey, Kimberly, Anderlid, Britt Marie, Azzarello-Burri, Silvia, Basinger, Alice A, Bianchini, Claudia, Bird, Lynne M, Buchert, Rebecca, Carre, Wilfrid, Ceulemans, Sophia, Charles, Perrine, Cox, Helen, Culliton, Lisa, Currò, Aurora, , , Demurger, Florence, Dowling, James J, Duban-Bedu, Benedicte, Dubourg, Christèle, Eiset, Saga Elise, Escobar, Luis F, Ferrarini, Alessandra, Haack, Tobias B, Hashim, Mona, Heide, Solveig, Helbig, Katherine L, Helbig, Ingo, Heredia, Raul, Héron, Delphine, Isidor, Bertrand, Jonasson, Amy R, Joset, Pascal, Keren, Boris, Kok, Fernando, Kroes, Hester Y, Lavillaureix, Alinoë, Lu, Xin, Maas, Saskia M, Maegawa, Gustavo H B, Marcelis, Carlo L M, Mark, Paul R, Masruha, Marcelo R, McLaughlin, Heather M, McWalter, Kirsty, Melchinger, Esther U, Mercimek-Andrews, Saadet, Nava, Caroline, Pendziwiat, Manuela, Person, Richard, Ramelli, Gian Paolo, Ramos, Luiza L P, Rauch, Anita, Reavey, Caitlin, Renieri, Alessandra, Rieß, Angelika, Sanchez-Valle, Amarilis, Sattar, Shifteh, Saunders, Carol, Schwarz, Niklas, Smol, Thomas, Srour, Myriam, Steindl, Katharina, Syrbe, Steffen, Taylor, Jenny C, Telegrafi, Aida, Thiffault, Isabelle, Trauner, Doris A, van der Linden, Helio, van Koningsbruggen, Silvana, Villard, Laurent, Vogel, Ida, Vogt, Julie, Weber, Yvonne G, Wentzensen, Ingrid M, Widjaja, Elysa, Zak, Jaroslav, Baxter, Samantha, Banka, Siddharth, Rodan, Lance H,

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy. ,

104: 1210-1222
Clicks: 268
2019 Flex, Elisabetta, Martinelli, Simone, Van Dijck, Anke, Ciolfi, Andrea, Cecchetti, Serena, Coluzzi, Elisa, Pannone, Luca, Andreoli, Cristina, Radio, Francesca Clementina, Pizzi, Simone, Carpentieri, Giovanna, Bruselles, Alessandro, Catanzaro, Giuseppina, Pedace, Lucia, Miele, Evelina, Carcarino, Elena, Ge, Xiaoyan, Chijiwa, Chieko, Lewis, M E Suzanne, Meuwissen, Marije, Kenis, Sandra, Van der Aa, Nathalie, Larson, Austin, Brown, Kathleen, Wasserstein, Melissa P, Skotko, Brian G, Begtrup, Amber, Person, Richard, Karayiorgou, Maria, Roos, J Louw, Van Gassen, Koen L, Koopmans, Marije, Bijlsma, Emilia K, Santen, Gijs W E, Barge-Schaapveld, Daniela Q C M, Ruivenkamp, Claudia A L, Hoffer, Mariette J V, Lalani, Seema R, Streff, Haley, Craigen, William J, Graham, Brett H, van den Elzen, Annette P M, Kamphuis, Daan J, Õunap, Katrin, Reinson, Karit, Pajusalu, Sander, Wojcik, Monica H, Viberti, Clara, Di Gaetano, Cornelia, Bertini, Enrico, Petrucci, Simona, De Luca, Alessandro, Rota, Rossella, Ferretti, Elisabetta, Matullo, Giuseppe, Dallapiccola, Bruno, Sgura, Antonella, Walkiewicz, Magdalena, Kooy, R Frank, Tartaglia, Marco,

Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging. ,

105: 493-508
Clicks: 265
2019 Bosticardo, Marita, Yamazaki, Yasuhiro, Cowan, Jennifer, Giardino, Giuliana, Corsino, Cristina, Scalia, Giulia, Prencipe, Rosaria, Ruffner, Melanie, Hill, David A, Sakovich, Inga, Yemialyanava, Irma, Tam, Jonathan S, Padem, Nurcicek, Elder, Melissa E, Sleasman, John W, Perez, Elena, Niebur, Hana, Seroogy, Christine M, Sharapova, Svetlana, Gebbia, Jennifer, Kleiner, Gary Ira, Peake, Jane, Abbott, Jordan K, Gelfand, Erwin W, Crestani, Elena, Biggs, Catherine, Butte, Manish J, Hartog, Nicholas, Hayward, Anthony, Chen, Karin, Heimall, Jennifer, Seeborg, Filiz, Bartnikas, Lisa M, Cooper, Megan A, Pignata, Claudio, Bhandoola, Avinash, Notarangelo, Luigi D,

Heterozygous FOXN1 Variants Cause Low TRECs and Severe T Cell Lymphopenia, Revealing a Crucial Role of FOXN1 in Supporting Early Thymopoiesis. ,

Vol N/A: Pages N/A
Clicks: 243
2002 Williams, Charlene J, Zhang, Yun, Timms, Andrew, Bonavita, Gina, Caeiro, Francisco, Broxholme, John, Cuthbertson, Jonathan, Jones, Yvonne, Marchegiani, Raul, Reginato, Antonio, Russell, R Graham G, Wordsworth, B Paul, Carr, Andrew J, Brown, Matthew A,

Autosomal dominant familial calcium pyrophosphate dihydrate deposition disease is caused by mutation in the transmembrane protein ANKH. ,

71: 985-91
Clicks: 240
1989 Reed, T.

Innovations in human genetics education: The design and development of computer-assisted instruction for integration into the medical genetics curriculum ,

45: 176-181
Clicks: 236
2019 Rafehi, Haloom, Szmulewicz, David J, Bennett, Mark F, Sobreira, Nara L M, Pope, Kate, Smith, Katherine R, Gillies, Greta, Diakumis, Peter, Dolzhenko, Egor, Eberle, Michael A, Barcina, María García, Breen, David P, Chancellor, Andrew M, Cremer, Phillip D, Delatycki, Martin B, Fogel, Brent L, Hackett, Anna, Halmagyi, G Michael, Kapetanovic, Solange, Lang, Anthony, Mossman, Stuart, Mu, Weiyi, Patrikios, Peter, Perlman, Susan L, Rosemergy, Ian, Storey, Elsdon, Watson, Shaun R D, Wilson, Michael A, Zee, David S, Valle, David, Amor, David J, Bahlo, Melanie, Lockhart, Paul J,

Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS. ,

105: 151-165
Clicks: 234
2019 Watts, Jason A, Burdick, Joshua, Daigneault, Jillian, Zhu, Zhengwei, Grunseich, Christopher, Bruzel, Alan, Cheung, Vivian G,

cis Elements that Mediate RNA Polymerase II Pausing Regulate Human Gene Expression. ,

105: 677-688
Clicks: 216

Certificate of Indexing

This is to certify that

American journal of human genetics

ISSN: 0002-9297

is being indexed by Journament

Indexing started on: August 14, 2019
Certificate issued on: July 7, 2025
Verification link: https://www.journament.com/journal/1763

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