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American journal of human genetics

ISSN 0002-9297· EN

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40.7/100
Journament Score
#6,244
Journament Rank
51
Articles Indexed

About This Journal

Short Name Am J Hum Genet
Abbreviated Name am j hum genet
ISSN 0002-9297
URL https://www.sciencedirect.com/journal/the-american-journal-of-human-genetics

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ncbi ulakbim sci

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Publications Per Year

Articles (51)

1980
Construction of a genetic linkage map in man using restriction fragment length polymorphisms.
D Botstein, R L White, M Skolnick, R W Davis;D Botstein;R L White;M Skolnick;R W Davis;
Vol. 32 , No. 3 , pp. 314-
669 views Abstract
1994
Mismatch repair genes on chromosomes 2p and 3p account for a major share of hereditary nonpolyposis colorectal cancer families evaluable by linkage
Nyström-Lahti M;Parsons R;Sistonen P;Pylkkänen L;Aaltonen LA;Leach FS;Hamilton SR;Watson P;Bronson E;Fusaro R;;
Vol. 55 , No. 4 , pp. -
383 views Abstract
2019
Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging.
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;
Vol. 105 , No. 3 , pp. 493-508
360 views DOI Abstract
2019
Conformational Dynamics and Allosteric Regulation Landscapes of Germline PTEN Mutations Associated with Autism Compared to Those Associated with Cancer
Smith, I.
Vol. 104 , pp. 861-878
353 views DOI
1997
Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients.
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;
Vol. 61 , No. 3 , pp. 620-9
353 views Abstract
2019
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.
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;
Vol. 104 , No. 6 , pp. 1210-1222
339 views DOI Abstract
1989
Innovations in human genetics education: The design and development of computer-assisted instruction for integration into the medical genetics curriculum
Reed, T.
Vol. 45 , pp. 176-181
337 views
2019
Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS.
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;
Vol. 105 , No. 1 , pp. 151-165
323 views DOI Abstract
2002
Autosomal dominant familial calcium pyrophosphate dihydrate deposition disease is caused by mutation in the transmembrane protein ANKH.
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;
Vol. 71 , No. 4 , pp. 985-91
320 views Abstract
2019
Heterozygous FOXN1 Variants Cause Low TRECs and Severe T Cell Lymphopenia, Revealing a Crucial Role of FOXN1 in Supporting Early Thymopoiesis.
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;
309 views DOI Abstract
2020
Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism.
Gunning, Adam C;Strucinska, Klaudia;Muñoz Oreja, Mikel;Parrish, Andrew;Caswell, Richard;Stals, Karen L;Durigon, Romina;Durlacher-Betzer, Karina;Cunningham, Mitchell H;Grochowski, Christopher M;Baptista, Julia;Tysoe, Carolyn;Baple, Emma;Lahiri, Nayana;Homfray, Tessa;Scurr, Ingrid;Armstrong, Catherine;Dean, John;Fernandez Pelayo, Uxoa;Jones, Aleck W E;Taylor, Robert W;Misra, Vinod K;Yoon, Wan Hee;Wright, Caroline F;Lupski, James R;Spinazzola, Antonella;Harel, Tamar;Holt, Ian J;Ellard, Sian;
302 views DOI Abstract
2019
Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network.
, ;, ;
Vol. 105 , No. 3 , pp. 588-605
278 views DOI Abstract
2019
Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS.
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;
Vol. 105 , No. 1 , pp. 151-165
323 views DOI Abstract
2019
cis Elements that Mediate RNA Polymerase II Pausing Regulate Human Gene Expression.
Watts, Jason A;Burdick, Joshua;Daigneault, Jillian;Zhu, Zhengwei;Grunseich, Christopher;Bruzel, Alan;Cheung, Vivian G;
Vol. 105 , No. 4 , pp. 677-688
308 views DOI Abstract
2019
Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging.
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;
Vol. 105 , No. 3 , pp. 493-508
360 views DOI Abstract
2019
Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder.
Hiatt, Susan M;Thompson, Michelle L;Prokop, Jeremy W;Lawlor, James M J;Gray, David E;Bebin, E Martina;Rinne, Tuula;Kempers, Marlies;Pfundt, Rolph;van Bon, Bregje W;Mignot, Cyril;Nava, Caroline;Depienne, Christel;Kalsner, Louisa;Rauch, Anita;Joset, Pascal;Bachmann-Gagescu, Ruxandra;Wentzensen, Ingrid M;McWalter, Kirsty;Cooper, Gregory M;
Vol. 104 , No. 4 , pp. 701-708
226 views DOI Abstract
2019
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.
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;
Vol. 104 , No. 6 , pp. 1210-1222
339 views DOI Abstract
2019
Heterozygous FOXN1 Variants Cause Low TRECs and Severe T Cell Lymphopenia, Revealing a Crucial Role of FOXN1 in Supporting Early Thymopoiesis.
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;
309 views DOI Abstract
2019
Conformational Dynamics and Allosteric Regulation Landscapes of Germline PTEN Mutations Associated with Autism Compared to Those Associated with Cancer
Smith, I.
Vol. 104 , pp. 861-878
353 views DOI
2018
A Statistical Framework for Mapping Risk Genes from De Novo Mutations in Whole-Genome-Sequencing Studies.
Liu, Yuwen;Liang, Yanyu;Cicek, A Ercument;Li, Zhongshan;Li, Jinchen;Muhle, Rebecca A;Krenzer, Martina;Mei, Yue;Wang, Yan;Knoblauch, Nicholas;Morrison, Jean;Zhao, Siming;Jiang, Yi;Geller, Evan;Ionita-Laza, Iuliana;Wu, Jinyu;Xia, Kun;Noonan, James P;Sun, Zhong Sheng;He, Xin;
Vol. 102 , No. 6 , pp. 1031-1047
97 views DOI Abstract
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Journament

Overall Quality Score

40.7/100

Tier: Below Average

The Journament Overall Quality Score is a comprehensive metric that evaluates academic journals across multiple dimensions including engagement, accessibility, diversity, innovation, and community impact.

This score helps researchers, institutions, and publishers understand the holistic quality and impact of a journal beyond traditional metrics.

Engagement Score

30.8/100

Measures user interactions, views, citations, and community involvement with this journal's content.

Higher engagement scores indicate that the journal's content is actively being read, cited, and discussed within the academic community.

Accessibility Score

35.0/100

Evaluates how easily researchers can access journal content, including open access availability, ISSN registration, and indexing.

This metric considers factors such as paywalls, open access policies, and availability across different academic databases and search engines.

Diversity Score

30.0/100

Assesses geographic and institutional diversity of authors, editorial board composition, and topic breadth.

A diverse journal publishes work from various geographic regions, institutions, and covers a broad range of topics within its field.

Innovation Score

40.0/100

Evaluates research novelty, interdisciplinary work, and emerging topics based on AI analysis of article abstracts.

This score reflects how much the journal publishes cutting-edge research, explores new methodologies, and bridges different academic disciplines.

Community Impact Score

34.0/100

Measures scholarly contribution and real-world applications of published research.

This metric evaluates how the journal's research translates into practical applications, policy changes, and benefits to society beyond academia.

Timeliness Score

50.0/100

Evaluates recent publication activity, publication frequency, and currency of research topics.

Higher scores indicate consistent publishing schedules and timely coverage of current research trends.

Ethics & Transparency Score

0.0/100

Research Integrity (10% weight)

Assesses COPE standards compliance, ethical considerations in research, transparency in methodologies, and reproducibility practices.

This metric ensures the journal maintains high ethical standards and promotes transparent, trustworthy research.

Content Quality Score

0.0/100

Academic Rigor (20% weight) + Methodology Quality (12%)

Evaluates research methodology soundness, statistical rigor, theoretical framework strength, appropriateness of research methods, data quality, and clarity & readability.

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Editorial Diversity Score

0.0/100

Author Diversity + Interdisciplinary Value (8%)

Measures geographic diversity of authors, institutional variety, editorial board composition, and cross-disciplinary connections.

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Publication Regularity Score

0.0/100

Assesses consistency of publication schedule, frequency stability, and predictable output patterns.

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Geographic Reach Score

0.0/100

Evaluates international author representation, global readership distribution, and cross-border research collaboration.

Wide geographic reach indicates global impact and international recognition of the journal's research.