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

Building a growing genomic repository for maternal and fetal health through the PING Consortium

通过 PING 联盟构建不断增长的母婴健康基因组库

Abdelmalek, Clara M; Singh, Shriya; Fasil, Blain; Horvath, Allison R; Mulkey, Sarah B; Curé, Carlos; Campos, Maribel; Cavalcanti, Denise P; Tong, Van T; Mercado, Marcela; Daza, Marcela; Benavides, Mónica Marcela; Acosta, Jacqueline; Gilboa, Suzanne; Valencia, Diana; Sancken, Christina L; Newton, Suzanne; Scalabrin, Deolinda M F; Mussi-Pinhata, Marisa M; Vasconcelos, Zilton; Chakhtoura, Nahida; Moye, Jack; Leslie, Elizabeth J; Bulas, Dorothy; Vezina, Gilbert; Marques, Fernanda J P; Leyser, Marcio; Del Campo, Miguel; Vilain, Eric; DeBiasi, Roberta L; Wang, Tongguang; Nath, Avindra; Haydar, Tarik; Muenke, Max; Mansour, Tamer A; du Plessis, Adre J; Murray, Jeffrey C; Cordero, José F; Kousa, Youssef A

Stable and robust Xi and Y transcriptomes drive cell-type-specific autosomal and Xa responses in vivo and in vitro in four human cell types

稳定而强大的 Xi 和 Y 转录组在四种人类细胞类型中体内和体外驱动细胞类型特异性的常染色体和 Xa 反应

Laura V Blanton, Adrianna K San Roman, Geryl Wood, Ashley Buscetta, Nicole Banks, Helen Skaletsky, Alexander K Godfrey, Thao T Pham, Jennifer F Hughes, Laura G Brown, Paul Kruszka, Angela E Lin, Daniel L Kastner, Maximilian Muenke, David C Page

Hajdu-Cheney syndrome with atypical cardiovascular abnormalities

伴有非典型心血管异常的哈伊杜-切尼综合征

Ekure, Ekanem N; Sokunbi, Ogochukwu; Kruszka, Paul; Muenke, Maximilian; Adeyemo, Adebowale A

The human Y and inactive X chromosomes similarly modulate autosomal gene expression.

人类的Y染色体和失活的X染色体以类似的方式调节常染色体基因表达

San Roman Adrianna K, Skaletsky Helen, Godfrey Alexander K, Bokil Neha V, Teitz Levi, Singh Isani, Blanton Laura V, Bellott Daniel W, Pyntikova Tatyana, Lange Julian, Koutseva Natalia, Hughes Jennifer F, Brown Laura, Phou Sidaly, Buscetta Ashley, Kruszka Paul, Banks Nicole, Dutra Amalia, Pak Evgenia, Lasutschinkow Patricia C, Keen Colleen, Davis Shanlee M, Lin Angela E, Tartaglia Nicole R, Samango-Sprouse Carole, Muenke Maximilian, Page David C

Cryo-EM structures of pentameric autoinducer-2 exporter from Escherichia coli reveal its transport mechanism

大肠杆菌五聚体自诱导物-2输出蛋白的冷冻电镜结构揭示了其转运机制

Khera, Radhika; Mehdipour, Ahmad R; Bolla, Jani R; Kahnt, Joerg; Welsch, Sonja; Ermler, Ulrich; Muenke, Cornelia; Robinson, Carol V; Hummer, Gerhard; Xie, Hao; Michel, Hartmut

Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot

编码 VEGF 受体 2 的 KDR 基因的罕见变异与法洛四联症相关。

Škorić-Milosavljević, Doris; Lahrouchi, Najim; Bosada, Fernanda M; Dombrowsky, Gregor; Williams, Simon G; Lesurf, Robert; Tjong, Fleur V Y; Walsh, Roddy; El Bouchikhi, Ihssane; Breckpot, Jeroen; Audain, Enrique; Ilgun, Aho; Beekman, Leander; Ratbi, Ilham; Strong, Alanna; Muenke, Maximilian; Heide, Solveig; Muir, Alison M; Hababa, Mariam; Cross, Laura; Zhou, Dihong; Pastinen, Tomi; Zackai, Elaine; Atmani, Samir; Ouldim, Karim; Adadi, Najlae; Steindl, Katharina; Rauch, Anita; Brook, David; Wilsdon, Anna; Kuipers, Irene; Blom, Nico A; Mulder, Barbara J; Mefford, Heather C; Keren, Boris; Joset, Pascal; Kruszka, Paul; Thiffault, Isabelle; Sheppard, Sarah E; Roberts, Amy; Lodder, Elisabeth M; Keavney, Bernard D; Clur, Sally-Ann B; Mital, Seema; Hitz, Marc-Philip; Christoffels, Vincent M; Postma, Alex V; Bezzina, Connie R

Correction to: Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot

更正:KDR基因(编码VEGF受体2)的罕见变异与法洛四联症相关

Škorić-Milosavljević, Doris; Lahrouchi, Najim; Bosada, Fernanda M; Dombrowsky, Gregor; Williams, Simon G; Lesurf, Robert; Tjong, Fleur V Y; Walsh, Roddy; El Bouchikhi, Ihssane; Breckpot, Jeroen; Audain, Enrique; Ilgun, Aho; Beekman, Leander; Ratbi, Ilham; Strong, Alanna; Muenke, Maximilian; Heide, Solveig; Muir, Alison M; Hababa, Mariam; Cross, Laura; Zhou, Dihong; Pastinen, Tomi; Zackai, Elaine; Atmani, Samir; Ouldim, Karim; Adadi, Najlae; Steindl, Katharina; Rauch, Anita; Brook, David; Wilsdon, Anna; Kuipers, Irene; Blom, Nico A; Mulder, Barbara J; Mefford, Heather C; Keren, Boris; Joset, Pascal; Kruszka, Paul; Thiffault, Isabelle; Sheppard, Sarah E; Roberts, Amy; Lodder, Elisabeth M; Keavney, Bernard D; Clur, Sally-Ann B; Mital, Seema; Hitz, Marc-Philip; Christoffels, Vincent M; Postma, Alex V; Bezzina, Connie R

The 2019 US medical genetics workforce: a focus on clinical genetics

2019年美国医学遗传学从业人员:聚焦临床遗传学

Jenkins, Brittany D; Fischer, Catherine G; Polito, Curt A; Maiese, Deborah R; Keehn, Alisha S; Lyon, Megan; Edick, Mathew J; Taylor, Matthew R G; Andersson, Hans C; Bodurtha, Joann N; Blitzer, Miriam G; Muenke, Maximilian; Watson, Michael S

Exome Sequencing and Congenital Heart Disease in Sub-Saharan Africa

外显子组测序与撒哈拉以南非洲先天性心脏病

Ekure, Ekanem N; Adeyemo, Adebowale; Liu, Hanhan; Sokunbi, Ogochukwu; Kalu, Nnenna; Martinez, Ariel F; Owosela, Babajide; Tekendo-Ngongang, Cedrik; Addissie, Yonit A; Olusegun-Joseph, Akinsanya; Ikebudu, Desmond; Berger, Seth I; Muenke, Maximilian; Han, Zhe; Kruszka, Paul

Quantitative Craniofacial Analysis and Generation of Human Induced Pluripotent Stem Cells for Muenke Syndrome: A Case Report

定量颅面分析及人诱导多能干细胞生成治疗穆恩克综合征:病例报告

Kidwai, Fahad K; Mui, Byron W H; Almpani, Konstantinia; Jani, Priyam; Keyvanfar, Cyrus; Iqbal, Kulsum; Paravastu, Sriram S; Arora, Deepika; Orzechowski, Pamela; Merling, Randall K; Mallon, Barbara; Myneni, Vamsee D; Ahmad, Moaz; Kruszka, Paul; Muenke, Maximilian; Woodcock, Jeremiah; Gilman, Jeffrey W; Robey, Pamela G; Lee, Janice S