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

Rank: 15.66 /

Indexings	ncbi
Short Name	Genet Med
Abbreviated Name	genet med
ISSN	1530-0366
Aim and Scope
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Publications Per Year

Top 10 Most Clicked Articles

2017 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, ,

Clinical utility of next-generation sequencing for inherited bone marrow failure syndromes ,

19: -

Clicks: 288

2019 Guerrini, Christi J, Wagner, Jennifer K, Nelson, Sarah C, Javitt, Gail H, McGuire, Amy L,

Who's on third? Regulation of third-party genetic interpretation services. ,

Vol N/A: Pages N/A

Clicks: 268

2020 Smith, Hadley Stevens, Swint, John M, Lalani, Seema R, de Oliveira Otto, Marcia C, Yamal, Jose-Miguel, Russell, Heidi V, Lee, Brendan H,

Exome sequencing compared with standard genetic tests for critically ill infants with suspected genetic conditions. ,

Vol N/A: Pages N/A

Clicks: 239

2020 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,

Higher dosing of alglucosidase alfa improves outcomes in children with Pompe disease: a clinical study and review of the literature. ,

Vol N/A: Pages N/A

Clicks: 231

2019 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,

Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature. ,

Vol N/A: Pages N/A

Clicks: 202

2019 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,

AVADA: toward automated pathogenic variant evidence retrieval directly from the full-text literature. ,

Vol N/A: Pages N/A

Clicks: 181

2019 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,

Correction: The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature. ,

21: 1667-1671

Clicks: 141

2018 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, , ,

Characterizing reduced coverage regions through comparison of exome and genome sequencing data across 10 centers. ,

20: 855-866

Clicks: 30

2024 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,

Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders. ,

Vol N/A: 101251

Clicks: 15

2023 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

Updated clinical practice recommendations for managing adults with 22q11.2 deletion syndrome. ,

25: 100344

Clicks: 5

Certificate of Indexing

This is to certify that

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

ISSN: 1530-0366

is being indexed by Journament

Indexing started on: August 31, 2019

Certificate issued on: July 23, 2025

Verification link: https://journament.com/journal/7802