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Genetics in medicine : official journal of the American College of Medical Genetics

ISSN 1530-0366· EN

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38.1/100
Journament Score
#9,878
Journament Rank
10
Articles Indexed

About This Journal

Short Name Genet Med
Abbreviated Name genet med
ISSN 1530-0366

Indexings

ncbi

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Publications Per Year

Articles (10)

2017
Clinical utility of next-generation sequencing for inherited bone marrow failure syndromes
Muramatsu H;Okuno Y;Yoshida K;Shiraishi Y;Doisaki S;Narita A;Sakaguchi H;Kawashima N;Wang X;Xu Y;Chiba K;Tanaka H;Hama A;Sanada M;Takahashi Y;Kanno H;Yamaguchi H;Ohga S;Manabe A;Harigae H;Kunishima S;Ishii E;Kobayashi M;Koike K;Watanabe K;Ito E;Takata M;Yabe M;Ogawa S;Miyano S;Kojima S;;
Vol. 19 , No. 7 , pp. -
405 views Abstract
2019
Who's on third? Regulation of third-party genetic interpretation services.
Guerrini, Christi J;Wagner, Jennifer K;Nelson, Sarah C;Javitt, Gail H;McGuire, Amy L;
370 views DOI Abstract
2020
Exome sequencing compared with standard genetic tests for critically ill infants with suspected genetic conditions.
Smith, Hadley Stevens;Swint, John M;Lalani, Seema R;de Oliveira Otto, Marcia C;Yamal, Jose-Miguel;Russell, Heidi V;Lee, Brendan H;
357 views DOI Abstract
2020
Higher dosing of alglucosidase alfa improves outcomes in children with Pompe disease: a clinical study and review of the literature.
Khan, Aleena A;Case, Laura E;Herbert, Mrudu;DeArmey, Stephanie;Jones, Harrison;Crisp, Kelly;Zimmerman, Kanecia;ElMallah, Mai K;Young, Sarah P;Kishnani, Priya S;
337 views DOI Abstract
2019
Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature.
Torti, Erin;Keren, Boris;Palmer, Elizabeth E;Zhu, Zehua;Afenjar, Alexandra;Anderson, Ilse J;Andrews, Marisa V;Atkinson, Celia;Au, Margaret;Berry, Susan A;Bowling, Kevin M;Boyle, Jackie;Buratti, Julien;Cathey, Sara S;Charles, Perrine;Cogne, Benjamin;Courtin, Thomas;Escobar, Luis F;Finley, Sabra Ledare;Graham, John M;Grange, Dorothy K;Heron, Delphine;Hewson, Stacy;Hiatt, Susan M;Hibbs, Kathleen A;Jayakar, Parul;Kalsner, Louisa;Larcher, Lise;Lesca, Gaetan;Mark, Paul R;Miller, Kathryn;Nava, Caroline;Nizon, Mathilde;Pai, G Shashidhar;Pappas, John;Parsons, Gretchen;Payne, Katelyn;Putoux, Audrey;Rabin, Rachel;Sabatier, Isabelle;Shinawi, Marwan;Shur, Natasha;Skinner, Steven A;Valence, Stephanie;Warren, Hannah;Whalen, Sandra;Crunk, Amy;Douglas, Ganka;Monaghan, Kristin G;Person, Richard E;Willaert, Rebecca;Solomon, Benjamin D;Juusola, Jane;
286 views DOI Abstract
2019
AVADA: toward automated pathogenic variant evidence retrieval directly from the full-text literature.
Birgmeier, Johannes;Deisseroth, Cole A;Hayward, Laura E;Galhardo, Luisa M T;Tierno, Andrew P;Jagadeesh, Karthik A;Stenson, Peter D;Cooper, David N;Bernstein, Jonathan A;Haeussler, Maximilian;Bejerano, Gill;
268 views DOI Abstract
2019
Correction: The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature.
Piard, Juliette;Hawkes, Lara;Milh, Mathieu;Villard, Laurent;Borgatti, Renato;Romaniello, Romina;Fradin, Melanie;Capri, Yline;Héron, Delphine;Nougues, Marie-Christine;Nava, Caroline;Arsene, Oana Tarta;Shears, Debbie;Taylor, John;Pagnamenta, Alistair;Taylor, Jenny C;Sogawa, Yoshimi;Johnson, Diana;Firth, Helen;Vasudevan, Pradeep;Jones, Gabriela;Nguyen-Morel, Marie-Ange;Busa, Tiffany;Roubertie, Agathe;van den Born, Myrthe;Brischoux-Boucher, Elise;Koenig, Michel;Mignot, Cyril;, ;Kini, Usha;Philippe, Christophe;
Vol. 21 , No. 7 , pp. 1667-1671
213 views DOI Abstract
2018
Characterizing reduced coverage regions through comparison of exome and genome sequencing data across 10 centers.
Sanghvi, Rashesh V;Buhay, Christian J;Powell, Bradford C;Tsai, Ellen A;Dorschner, Michael O;Hong, Celine S;Lebo, Matthew S;Sasson, Ariella;Hanna, David S;McGee, Sean;Bowling, Kevin M;Cooper, Gregory M;Gray, David E;Lonigro, Robert J;Dunford, Andrew;Brennan, Christine A;Cibulskis, Carrie;Walker, Kimberly;Carneiro, Mauricio O;Sailsbery, Joshua;Hindorff, Lucia A;Robinson, Dan R;Santani, Avni;Sarmady, Mahdi;Rehm, Heidi L;Biesecker, Leslie G;Nickerson, Deborah A;Hutter, Carolyn M;Garraway, Levi;Muzny, Donna M;Wagle, Nikhil;, ;
Vol. 20 , No. 8 , pp. 855-866
121 views DOI Abstract
2024
Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders.
Cali, Elisa;Quirin, Tania;Rocca, Clarissa;Efthymiou, Stephanie;Riva, Antonella;Marafi, Dana;Zaki, Maha S;Suri, Mohnish;Dominguez, Roberto;Elbendary, Hasnaa M;Alavi, Shahryar;Abdel-Hamid, Mohamed S;Morsy, Heba;Mau-Them, Frederic Tran;Nizon, Mathilde;Tesner, Pavel;Ryba, Lukáš;Zafar, Faisal;Rana, Nuzhat;Saadi, Nebal W;Firoozfar, Zahra;Gencpinar, Pinar;Unay, Bulent;Ustun, Canan;Bruel, Ange-Line;Coubes, Christine;Stefanich, Jennifer;Sezer, Ozlem;Agolini, Emanuele;Novelli, Antonio;Vasco, Gessica;Lettori, Donatella;Milh, Mathieu;Villard, Laurent;Zeidler, Shimriet;Opperman, Henry;Strehlow, Vincent;Issa, Mahmoud Y;El Khassab, Hebatallah;Chand, Prem;Ibrahim, Shahnaz;Nejad-Rashidi, Ali;Miryounesi, Mohammad;Larki, Pegah;Morrison, Jennifer;Cristian, Ingrid;Thiffault, Isabelle;Bertsch, Nicole L;Noh, Grace J;Pappas, John;Moran, Ellen;Marinakis, Nikolaos M;Traeger-Synodinos, Joanne;Hosseini, Susan;Abbaszadegan, Mohammad Reza;Caumes, Roseline;Vissers, Lisenka E L M;Neshatdoust, Maedeh;Montazer, Mostafa Zohour;El Fahime, Elmostafa;Canavati, Christin;Kamal, Lara;Kanaan, Moien;Askander, Omar;Voinova, Victoria;Levchenko, Olga;Haider, Shahzhad;Halbach, Sara S;Maia, Elias Rayana;Mansoor, Salehi;Vivek, Jain;Tawde, Sanjukta;Santhosh R Challa, Viveka;Gowda, Vykuntaraju K;Srinivasan, Varunvenkat M;Victor, Lucas Alves;Pinero-Banos, Benito;Hague, Jennifer;Ei-Awady, Heba Ahmed;Maria de Miranda Henriques-Souza, Adelia;Cheema, Huma Arshad;Anjum, Muhammad Nadeem;Idkaidak, Sara;Alqarajeh, Firas;Atawneh, Osama;Mor-Shaked, Hagar;Harel, Tamar;Zifarelli, Giovanni;Bauer, Peter;Kok, Fernando;Kitajima, Joao Paulo;Monteiro, Fabiola;Josahkian, Juliana;Lesca, Gaetan;Chatron, Nicolas;Ville, Dorothe;Murphy, David;Neul, Jeffrey L;Mullegama, Sureni V;Begtrup, Amber;Herman, Isabella;Mitani, Tadahiro;Posey, Jennifer E;Tay, Chee Geap;Javed, Iram;Carr, Lucinda;Kanani, Farah;Beecroft, Fiona;Hane, Lee;Abdelkreem, Elsayed;Macek, Milan;Bispo, Luciana;Elmaksoud, Marwa Abd;Hashemi-Gorji, Farzad;Pehlivan, Davut;Amor, David J;Jamra, Rami Abou;Chung, Wendy K;Ghayoor, Eshan Karimiani;Campeau, Philippe;Alkuraya, Fowzan S;Pagnamenta, Alistair T;Gleeson, Joseph;Lupski, James R;Striano, Pasquale;Moreno-De-Luca, Andres;Lafontaine, Denis L J;Houlden, Henry;Maroofian, Reza;
, pp. 101251
110 views DOI Abstract
2023
Updated clinical practice recommendations for managing adults with 22q11.2 deletion syndrome.
Boot, Erik; Óskarsdóttir, Sólveig; Loo, Joanne C Y; Crowley, Terrence Blaine; Orchanian-Cheff, Ani; Andrade, Danielle M; Arganbright, Jill M; Castelein, René M; Cserti-Gazdewich, Christine; de Reuver, Steven; Fiksinski, Ania M; Klingberg, Gunilla; Lang, Anthony E; Mascarenhas, Maria R; Moss, Edward M; Nowakowska, Beata Anna; Oechslin, Erwin; Palmer, Lisa; Repetto, Gabriela M; Reyes, Nikolai Gil D; Schneider, Maude; Silversides, Candice; Sullivan, Kathleen E; Swillen, Ann; van Amelsvoort, Therese A M J; Van Batavia, Jason P; Vingerhoets, Claudia; McDonald-McGinn, Donna M; Bassett, Anne S
Vol. 25 , pp. 100344
86 views DOI Abstract
2024
Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders.
Cali, Elisa;Quirin, Tania;Rocca, Clarissa;Efthymiou, Stephanie;Riva, Antonella;Marafi, Dana;Zaki, Maha S;Suri, Mohnish;Dominguez, Roberto;Elbendary, Hasnaa M;Alavi, Shahryar;Abdel-Hamid, Mohamed S;Morsy, Heba;Mau-Them, Frederic Tran;Nizon, Mathilde;Tesner, Pavel;Ryba, Lukáš;Zafar, Faisal;Rana, Nuzhat;Saadi, Nebal W;Firoozfar, Zahra;Gencpinar, Pinar;Unay, Bulent;Ustun, Canan;Bruel, Ange-Line;Coubes, Christine;Stefanich, Jennifer;Sezer, Ozlem;Agolini, Emanuele;Novelli, Antonio;Vasco, Gessica;Lettori, Donatella;Milh, Mathieu;Villard, Laurent;Zeidler, Shimriet;Opperman, Henry;Strehlow, Vincent;Issa, Mahmoud Y;El Khassab, Hebatallah;Chand, Prem;Ibrahim, Shahnaz;Nejad-Rashidi, Ali;Miryounesi, Mohammad;Larki, Pegah;Morrison, Jennifer;Cristian, Ingrid;Thiffault, Isabelle;Bertsch, Nicole L;Noh, Grace J;Pappas, John;Moran, Ellen;Marinakis, Nikolaos M;Traeger-Synodinos, Joanne;Hosseini, Susan;Abbaszadegan, Mohammad Reza;Caumes, Roseline;Vissers, Lisenka E L M;Neshatdoust, Maedeh;Montazer, Mostafa Zohour;El Fahime, Elmostafa;Canavati, Christin;Kamal, Lara;Kanaan, Moien;Askander, Omar;Voinova, Victoria;Levchenko, Olga;Haider, Shahzhad;Halbach, Sara S;Maia, Elias Rayana;Mansoor, Salehi;Vivek, Jain;Tawde, Sanjukta;Santhosh R Challa, Viveka;Gowda, Vykuntaraju K;Srinivasan, Varunvenkat M;Victor, Lucas Alves;Pinero-Banos, Benito;Hague, Jennifer;Ei-Awady, Heba Ahmed;Maria de Miranda Henriques-Souza, Adelia;Cheema, Huma Arshad;Anjum, Muhammad Nadeem;Idkaidak, Sara;Alqarajeh, Firas;Atawneh, Osama;Mor-Shaked, Hagar;Harel, Tamar;Zifarelli, Giovanni;Bauer, Peter;Kok, Fernando;Kitajima, Joao Paulo;Monteiro, Fabiola;Josahkian, Juliana;Lesca, Gaetan;Chatron, Nicolas;Ville, Dorothe;Murphy, David;Neul, Jeffrey L;Mullegama, Sureni V;Begtrup, Amber;Herman, Isabella;Mitani, Tadahiro;Posey, Jennifer E;Tay, Chee Geap;Javed, Iram;Carr, Lucinda;Kanani, Farah;Beecroft, Fiona;Hane, Lee;Abdelkreem, Elsayed;Macek, Milan;Bispo, Luciana;Elmaksoud, Marwa Abd;Hashemi-Gorji, Farzad;Pehlivan, Davut;Amor, David J;Jamra, Rami Abou;Chung, Wendy K;Ghayoor, Eshan Karimiani;Campeau, Philippe;Alkuraya, Fowzan S;Pagnamenta, Alistair T;Gleeson, Joseph;Lupski, James R;Striano, Pasquale;Moreno-De-Luca, Andres;Lafontaine, Denis L J;Houlden, Henry;Maroofian, Reza;
, pp. 101251
110 views DOI Abstract
2023
Updated clinical practice recommendations for managing adults with 22q11.2 deletion syndrome.
Boot, Erik; Óskarsdóttir, Sólveig; Loo, Joanne C Y; Crowley, Terrence Blaine; Orchanian-Cheff, Ani; Andrade, Danielle M; Arganbright, Jill M; Castelein, René M; Cserti-Gazdewich, Christine; de Reuver, Steven; Fiksinski, Ania M; Klingberg, Gunilla; Lang, Anthony E; Mascarenhas, Maria R; Moss, Edward M; Nowakowska, Beata Anna; Oechslin, Erwin; Palmer, Lisa; Repetto, Gabriela M; Reyes, Nikolai Gil D; Schneider, Maude; Silversides, Candice; Sullivan, Kathleen E; Swillen, Ann; van Amelsvoort, Therese A M J; Van Batavia, Jason P; Vingerhoets, Claudia; McDonald-McGinn, Donna M; Bassett, Anne S
Vol. 25 , pp. 100344
86 views DOI Abstract
2020
Exome sequencing compared with standard genetic tests for critically ill infants with suspected genetic conditions.
Smith, Hadley Stevens;Swint, John M;Lalani, Seema R;de Oliveira Otto, Marcia C;Yamal, Jose-Miguel;Russell, Heidi V;Lee, Brendan H;
357 views DOI Abstract
2020
Higher dosing of alglucosidase alfa improves outcomes in children with Pompe disease: a clinical study and review of the literature.
Khan, Aleena A;Case, Laura E;Herbert, Mrudu;DeArmey, Stephanie;Jones, Harrison;Crisp, Kelly;Zimmerman, Kanecia;ElMallah, Mai K;Young, Sarah P;Kishnani, Priya S;
337 views DOI Abstract
2019
Who's on third? Regulation of third-party genetic interpretation services.
Guerrini, Christi J;Wagner, Jennifer K;Nelson, Sarah C;Javitt, Gail H;McGuire, Amy L;
370 views DOI Abstract
2019
AVADA: toward automated pathogenic variant evidence retrieval directly from the full-text literature.
Birgmeier, Johannes;Deisseroth, Cole A;Hayward, Laura E;Galhardo, Luisa M T;Tierno, Andrew P;Jagadeesh, Karthik A;Stenson, Peter D;Cooper, David N;Bernstein, Jonathan A;Haeussler, Maximilian;Bejerano, Gill;
268 views DOI Abstract
2019
Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature.
Torti, Erin;Keren, Boris;Palmer, Elizabeth E;Zhu, Zehua;Afenjar, Alexandra;Anderson, Ilse J;Andrews, Marisa V;Atkinson, Celia;Au, Margaret;Berry, Susan A;Bowling, Kevin M;Boyle, Jackie;Buratti, Julien;Cathey, Sara S;Charles, Perrine;Cogne, Benjamin;Courtin, Thomas;Escobar, Luis F;Finley, Sabra Ledare;Graham, John M;Grange, Dorothy K;Heron, Delphine;Hewson, Stacy;Hiatt, Susan M;Hibbs, Kathleen A;Jayakar, Parul;Kalsner, Louisa;Larcher, Lise;Lesca, Gaetan;Mark, Paul R;Miller, Kathryn;Nava, Caroline;Nizon, Mathilde;Pai, G Shashidhar;Pappas, John;Parsons, Gretchen;Payne, Katelyn;Putoux, Audrey;Rabin, Rachel;Sabatier, Isabelle;Shinawi, Marwan;Shur, Natasha;Skinner, Steven A;Valence, Stephanie;Warren, Hannah;Whalen, Sandra;Crunk, Amy;Douglas, Ganka;Monaghan, Kristin G;Person, Richard E;Willaert, Rebecca;Solomon, Benjamin D;Juusola, Jane;
286 views DOI Abstract
2019
Correction: The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature.
Piard, Juliette;Hawkes, Lara;Milh, Mathieu;Villard, Laurent;Borgatti, Renato;Romaniello, Romina;Fradin, Melanie;Capri, Yline;Héron, Delphine;Nougues, Marie-Christine;Nava, Caroline;Arsene, Oana Tarta;Shears, Debbie;Taylor, John;Pagnamenta, Alistair;Taylor, Jenny C;Sogawa, Yoshimi;Johnson, Diana;Firth, Helen;Vasudevan, Pradeep;Jones, Gabriela;Nguyen-Morel, Marie-Ange;Busa, Tiffany;Roubertie, Agathe;van den Born, Myrthe;Brischoux-Boucher, Elise;Koenig, Michel;Mignot, Cyril;, ;Kini, Usha;Philippe, Christophe;
Vol. 21 , No. 7 , pp. 1667-1671
213 views DOI Abstract
2018
Characterizing reduced coverage regions through comparison of exome and genome sequencing data across 10 centers.
Sanghvi, Rashesh V;Buhay, Christian J;Powell, Bradford C;Tsai, Ellen A;Dorschner, Michael O;Hong, Celine S;Lebo, Matthew S;Sasson, Ariella;Hanna, David S;McGee, Sean;Bowling, Kevin M;Cooper, Gregory M;Gray, David E;Lonigro, Robert J;Dunford, Andrew;Brennan, Christine A;Cibulskis, Carrie;Walker, Kimberly;Carneiro, Mauricio O;Sailsbery, Joshua;Hindorff, Lucia A;Robinson, Dan R;Santani, Avni;Sarmady, Mahdi;Rehm, Heidi L;Biesecker, Leslie G;Nickerson, Deborah A;Hutter, Carolyn M;Garraway, Levi;Muzny, Donna M;Wagle, Nikhil;, ;
Vol. 20 , No. 8 , pp. 855-866
121 views DOI Abstract
2017
Clinical utility of next-generation sequencing for inherited bone marrow failure syndromes
Muramatsu H;Okuno Y;Yoshida K;Shiraishi Y;Doisaki S;Narita A;Sakaguchi H;Kawashima N;Wang X;Xu Y;Chiba K;Tanaka H;Hama A;Sanada M;Takahashi Y;Kanno H;Yamaguchi H;Ohga S;Manabe A;Harigae H;Kunishima S;Ishii E;Kobayashi M;Koike K;Watanabe K;Ito E;Takata M;Yabe M;Ogawa S;Miyano S;Kojima S;;
Vol. 19 , No. 7 , pp. -
405 views Abstract
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Journament

Overall Quality Score

38.1/100

Tier: Poor

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

30.7/100

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

15.0/100

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

36.0/100

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.

This comprehensive metric ensures published research meets the highest academic standards.

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.

Diverse editorial teams bring varied perspectives and reduce bias in academic publishing.

Publication Regularity Score

0.0/100

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

Regular publication schedules indicate reliable journal operations and consistent workflow management.

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.