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American journal of human genetics

ISSN 0002-9297· EN

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40.7/100
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#8,384
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51
Articles Indexed

About This Journal

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

Pengindeksan

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-
713 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. -
397 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
379 views DOI Abstract
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
370 views 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
363 views DOI
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
362 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
349 views
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
348 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
337 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
329 views 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;
315 views DOI Abstract
2019
Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network.
, ;, ;
Vol. 105 , No. 3 , pp. 588-605
296 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
362 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
337 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
379 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
236 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
348 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;
323 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
363 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
115 views DOI Abstract
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Overall Quality Score

40.7/100

Tier: Below Average

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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

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50.0/100

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0.0/100

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0.0/100

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Editorial Diversity Score

0.0/100

Author Diversity + Interdisciplinary Value (8%)

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0.0/100

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0.0/100

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