日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathy.

BLOC1S1 变异导致溶酶体和自噬缺陷,从而引起髓鞘形成不足的脑白质营养不良伴癫痫性脑病。

De Pace Raffaella, Dominguez Gonzalez Carlos A, Williamson Chad D, Helman Guy, Sanderson Leslie E, Disanza Brianna, Hsiao-Sánchez Nicole, Pizzino Amy, Muirhead Kayla, Bonkowsky Joshua L, Taft Ryan J, Sannaa Nouriya A, Dias Patricia, Quintas Ana Sofia, Mutlu Mehmet Burak, Bas Hasan, Oztürk Hasan, Mojarrad Majid, Alerasool Masoome, Sheikhani Shahriar, Jabbar Hayder Kadhim, Issa Awatif Hameed, Houlden Henry, Zonic Emir, Barakat Tahsin Stefan, Tripolski Kornelia, Romito Antonio, Teferedegn Eden, Vossough Arastoo, Whitehead Matthew T, Bhoj Elizabeth, Ahrens-Nicklas Rebecca C, Simons Cas, Wolvetang Ernst, van Ham Tjakko J, Bertoli-Avella Aida M, Maroofian Reza, Bonifacino Juan S, Vanderver Adeline

Expanding the Genetic and Phenotypic Spectrum of DYT-VPS16: The Importance of Splice-Site Variants

扩展DYT-VPS16的遗传和表型谱:剪接位点变异的重要性

Westenberger, Ana; Verdura, Edgard; Radefeldt, Mandy; Sanderson, Leslie E; Tripolszki, Kornelia; Marcé-Grau, Anna; Cazurro-Gutiérrez, Ana; Nikoncuk, Anita; Herzog, Rebecca; Al-Ali, Ruslan; Ferreira, Mariana; Almeida, Ligia S; Silveira, Tainá Regina Damaceno; Khan, Suliman; Maia, Raphael Doyle; Klivényi, Péter; Salamon, András; Baltaci, Volkan; Subasioglu, Asli; Prada-Arismendy, Jeanette; Čuturilo, Goran; Loens, Sebastian; Tadic, Vera; Maystadt, Isabelle; Karadurmus, Deniz; Leube, Barbara; De Winter, Jonathan; Monticelli, Alice; De Waele, Liesbeth; Baets, Jonathan; Vinkšel, Mateja; Maver, Aleš; Tschopp, Lorena; Ziegler, Gabriela; Sanguinetti, Ana; Lohmann, Katja; Barakat, Tahsin Stefan; Bauer, Peter; Perez-Dueñas, Belén; Bertoli-Avella, Aida M

Parasitofauna of commercial fish species of the Northern (Small) Aral Sea

北(小)咸海商业鱼类的寄生虫群

Berdiakhmetkyzy, Salika; Abdibayeva, Аigerim А; Zhaksylykova, Ainur А; Barbol, Bekzhan I; Kidiraliyev, Еrzhan Zh; Aryssova, Eleonora A; Kenessary, Saltanat A; Shevtsov, Alexandr B; Kamalova, Dinara K; Barakbayev, Tynysbek T; Sambayev, Nurlan S; Abdybekova, Aida M

Targeted Chromosomal Sequencing of Wild Bonobos Identifies a Genetically Distinct Subpopulation East of the Lomami River

对野生倭黑猩猩进行靶向染色体测序,在洛马米河以东发现了一个遗传上独特的亚种群。

Crego-Walters, Mar; Cuadros-Espinoza, Sebastian; Ruiz-Gartzia, Irune; Han, Sojung; Hermosilla, Nuria; Helsen, Philippe; Frandsen, Peter; Prats, Alexandra Maria Brumwell; Alentorn-Moron, Pol; Fontsere, Claudia; Estape, Marina Alvarez; Ngofuna, Muzungu; Monghiemo, Claude; Leendertz, Fabian; Thompson, Jo; Fasbender, David; Dieguez, Paula; Lokasola, Albert Lotana; Brand, Colin; Ndjango, Jean-Bosco; Georgiev, Alexander V; Giles, Jasmin A; Liu, Weimin; Li, Yingying; Sharp, Paul M; Pereboom, Zjef; Andrés, Aida M; Kuhlwilm, Martin; Gronau, Ilan; Kuehl, Hjalmar; Wessling, Erin G; Narat, Victor; Surbeck, Martin; Hart, John A; Hart, Terese B; Hvilsom, Christina; Krutzen, Michael; Stevens, Jeroen; Hahn, Beatrice H; Lizano, Esther; Prado-Martinez, Javier; Marques-Bonet, Tomas

The contribution of de novo coding mutations to meningomyelocele

新发编码突变对脊髓脊膜膨出的影响

Yoo-Jin Jiny Ha ,Ashna Nisal,Isaac Tang,Chanjae Lee,Ishani Jhamb,Cassidy Wallace,Robyn Howarth,Sarah Schroeder,Keng Ioi Vong,Naomi Meave,Fiza Jiwani,Chelsea Barrows,Sangmoon Lee,Nan Jiang,Arzoo Patel,Krisha Bagga,Niyati Banka,Liana Friedman,Francisco A Blanco,Seyoung Yu,Soeun Rhee,Hui Su Jeong ,Isaac Plutzer,Michael B Major,Béatrice Benoit,Christian Poüs,Caleb Heffner,Zoha Kibar,Gyang Markus Bot,Hope Northrup,Kit Sing Au,Madison Strain,Allison E Ashley-Koch,Richard H Finnell,Joan T Le,Hal S Meltzer,Camila Araujo,Helio R Machado,Roger E Stevenson,Anna Yurrita,Sara Mumtaz,Awais Ahmed,Mulazim Hussain Khara,Osvaldo M Mutchinick,José Ramón Medina-Bereciartu,Friedhelm Hildebrandt,Gia Melikishvili,Ahmed I Marwan,Valeria Capra,Mahmoud M Noureldeen,Aida M S Salem,Mahmoud Y Issa,Maha S Zaki,Libin Xu,Ji Eun Lee,Donghyuk Shin,Anna Alkelai,Alan R Shuldiner,Stephen F Kingsmore,Stephen A Murray,Heon Yung Gee,W Todd Miller,Kimberley F Tolias,John B Wallingford  ; Spina Bifida Sequencing Consortium; Sangwoo Kim ,Joseph G Gleeson

The contribution of de novo coding mutations to meningomyelocele

新发编码突变对脊髓脊膜膨出的影响

Ha, Yoo-Jin Jiny; Nisal, Ashna; Tang, Isaac; Lee, Chanjae; Jhamb, Ishani; Wallace, Cassidy; Howarth, Robyn; Schroeder, Sarah; Vong, Keng Ioi; Meave, Naomi; Jiwani, Fiza; Barrows, Chelsea; Lee, Sangmoon; Jiang, Nan; Patel, Arzoo; Bagga, Krisha; Banka, Niyati; Friedman, Liana; Blanco, Francisco A; Yu, Seyoung; Rhee, Soeun; Jeong, Hui Su; Plutzer, Isaac; Major, Michael B; Benoit, Béatrice; Poüs, Christian; Heffner, Caleb; Kibar, Zoha; Bot, Gyang Markus; Northrup, Hope; Au, Kit Sing; Strain, Madison; Ashley-Koch, Allison E; Finnell, Richard H; Le, Joan T; Meltzer, Hal S; Araujo, Camila; Machado, Helio R; Stevenson, Roger E; Yurrita, Anna; Mumtaz, Sara; Ahmed, Awais; Khara, Mulazim Hussain; Mutchinick, Osvaldo M; Medina-Bereciartu, José Ramón; Hildebrandt, Friedhelm; Melikishvili, Gia; Marwan, Ahmed I; Capra, Valeria; Noureldeen, Mahmoud M; Salem, Aida M S; Issa, Mahmoud Y; Zaki, Maha S; Xu, Libin; Lee, Ji Eun; Shin, Donghyuk; Alkelai, Anna; Shuldiner, Alan R; Kingsmore, Stephen F; Murray, Stephen A; Gee, Heon Yung; Miller, W Todd; Tolias, Kimberley F; Wallingford, John B; Kim, Sangwoo; Gleeson, Joseph G

Local genetic adaptation to habitat in wild chimpanzees

野生黑猩猩对栖息地的局部基因适应

Ostridge, Harrison J; Fontsere, Claudia; Lizano, Esther; Soto, Daniela C; Schmidt, Joshua M; Saxena, Vrishti; Alvarez-Estape, Marina; Barratt, Christopher D; Gratton, Paolo; Bocksberger, Gaëlle; Lester, Jack D; Dieguez, Paula; Agbor, Anthony; Angedakin, Samuel; Assumang, Alfred Kwabena; Bailey, Emma; Barubiyo, Donatienne; Bessone, Mattia; Brazzola, Gregory; Chancellor, Rebecca; Cohen, Heather; Coupland, Charlotte; Danquah, Emmanuel; Deschner, Tobias; Dotras, Laia; Dupain, Jef; Egbe, Villard Ebot; Granjon, Anne-Céline; Head, Josephine; Hedwig, Daniela; Hermans, Veerle; Hernandez-Aguilar, R Adriana; Jeffery, Kathryn J; Jones, Sorrel; Junker, Jessica; Kadam, Parag; Kaiser, Michael; Kalan, Ammie K; Kambere, Mbangi; Kienast, Ivonne; Kujirakwinja, Deo; Langergraber, Kevin E; Lapuente, Juan; Larson, Bradley; Laudisoit, Anne; Lee, Kevin C; Llana, Manuel; Maretti, Giovanna; Martín, Rumen; Meier, Amelia C; Morgan, David; Neil, Emily; Nicholl, Sonia; Nixon, Stuart; Normand, Emmanuelle; Orbell, Christopher; Ormsby, Lucy Jayne; Orume, Robinson; Pacheco, Liliana; Preece, Jodie; Regnaut, Sebastien; Robbins, Martha M; Rundus, Aaron; Sanz, Crickette; Sciaky, Lilah; Sommer, Volker; Stewart, Fiona A; Tagg, Nikki; Tédonzong, Luc Roscelin; van Schijndel, Joost; Vendras, Elleni; Wessling, Erin G; Willie, Jacob; Wittig, Roman M; Yuh, Yisa Ginath; Yurkiw, Kyle; Vigilant, Linda; Piel, Alex K; Boesch, Christophe; Kühl, Hjalmar S; Dennis, Megan Y; Marques-Bonet, Tomas; Arandjelovic, Mimi; Andrés, Aida M

Human-specific gene expansions contribute to brain evolution.

人类特有的基因扩增促进了大脑的进化

Soto Daniela C, Uribe-Salazar José M, Kaya Gulhan, Valdarrago Ricardo, Sekar Aarthi, Haghani Nicholas K, Hino Keiko, La Gabriana, Mariano Natasha Ann F, Ingamells Cole, Baraban Aidan, Jamal Zoeb, Turner Tychele N, Green Eric D, Simó Sergi, Quon Gerald, Andrés Aida M, Dennis Megan Y

FBXO22 deficiency defines a pleiotropic syndrome of growth restriction and multi-system anomalies associated with a unique epigenetic signature

FBXO22 缺陷是一种多效性综合征,表现为生长受限和多系统异常,并伴有独特的表观遗传特征。

Ramakrishna, Navin B; Mohamad Sahari, Umar Bin; Johmura, Yoshikazu; Ali, Nur Ain; Alghamdi, Malak; Bauer, Peter; Khan, Suliman; Ordoñez, Natalia; Ferreira, Mariana; Pinto Basto, Jorge; Alkuraya, Fowzan S; Faqeih, Eissa Ali; Mori, Mari; Almontashiri, Naif A M; Al Shamsi, Aisha; ElGhazali, Gehad; Abu Subieh, Hala; Al Ojaimi, Mode; El-Hattab, Ayman W; Said Al-Kindi, Said Ahmed; Alhashmi, Nadia; Alhabshan, Fahad; Al Saman, Abdulaziz; Tfayli, Hala; Arabi, Mariam; Khalifeh, Simone; Taylor, Alan; Alfadhel, Majid; Jain, Ruchi; Sinha, Shruti; Shenbagam, Shruti; Ramachandran, Revathy; Altunoğlu, Umut; Jacob, Anju; Thalange, Nandu; El Bejjani, Mireille; Perrin, Arnaud; Shin, Jay W; Al-Maawali, Almundher; Al-Shidhani, Azza; Al-Futaisi, Amna; Rabea, Fatma; Chekroun, Ikram; Almarri, Mohamed A; Ohta, Tomohiko; Nakanishi, Makoto; Alsheikh-Ali, Alawi; Ali, Fahad R; Bertoli-Avella, Aida M; Reversade, Bruno; Abou Tayoun, Ahmad

Global impact of micronutrients in modern human evolution

微量营养素对现代人类进化的全球影响

Rees, Jasmin; Castellano, Sergi; Andrés, Aida M