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

Functional consequence of pathogenic GABRA3 variants determines whether X-linked inheritance is dominant or recessive

致病性GABRA3变异的功能后果决定了X连锁遗传是显性遗传还是隐性遗传。

Johannesen, Katrine M; Aung, Khaing Phyu; Liao, Vivian Wy; Absalom, Nathan; Chua, Han C; Gan, Xue N; Mao, Miaomiao; McKenzie, Chaseley E; Lee, Hian M; Ortiz, Sebastian; Spillmann, Rebecca C; Shashi, Vandana; Radtke, Rodney A; Mirzaa, Ghayda M; Weisner, P Anne; Flores Daboub, Josue; Hagedorn, Caroline; Bayrak-Toydemir, Pinar; DeMille, Desiree; Zhao, Jian; Bajaj, Nandita; Capri, Yline; Keren, Boris; Schmidts, Miriam; van de Laar, Ingrid Mbh; van Slegtenhorst, Marjon A; Ploski, Rafal; Bogotko, Marta; Bourque, Danielle K; Alkhunaizi, Ebba; Chad, Lauren; Quercia, Nada; Elloumi, Houda; Wentzensen, Ingrid M; Kruer, Michael C; Bisarad, Pritha; Galaz-Montoya, Carolina I; Rusu, Violeta; Braun, Dominique; Angione, Katie; Win, Jessica C; Espinosa-Jovel, Camilo; Zacher, Pia; Platzer, Konrad; Berkovic, Samuel F; Scheffer, Ingrid E; Chebib, Mary; Rubboli, Guido; Møller, Rikke S; Reid, Christopher A; Ahring, Philip K

Identification of 2 novel noncoding variants in patients with Diamond-Blackfan anemia syndrome by whole genome sequencing

通过全基因组测序在Diamond-Blackfan贫血综合征患者中鉴定出2个新的非编码变异

Wen, Ting; Boyden, Steven E; Hocutt, Caleb M; Lewis, Robert G; Baldwin, Erin E; Vagher, Jennie; Andrews, Ashley; Nicholas, Thomas J; Chapin, Alexander; Fan, Elaine M; Botto, Lorenzo D; Bayrak-Toydemir, Pinar; Mao, Rong; Meznarich, Jessica A

The Utah NeoSeq Project: a collaborative multidisciplinary program to facilitate genomic diagnostics in the neonatal intensive care unit

犹他州NeoSeq项目:一项旨在促进新生儿重症监护病房基因组诊断的多学科合作项目

Malone Jenkins, Sabrina; Palmquist, Rachel N; Moore, Barry; Boyden, Steven E; Nicholas, Thomas J; Bayrak-Toydemir, Pinar; Mao, Rong; Farrell, J Andrew R; Holt, Carson H; Rynearson, Shawn G; Solorzano, Chelsea M; Ward, Alistair; Best, D Hunter; Al-Sweel, Najla; Bentley, Dawn L; Brunelli, Luca; Chow, Clement Y; Close, Devin W; Cormier, Michael J; Deshotel, Malia J; Durtschi, Jacob; Eide, Erik J; Floyd, Luaiva; Fredrickson, Eric K; Fulmer, Makenzie L; Hernandez, Edgar J; Kapron, Ashley L; Karren, Mary Anne; Lewis, Robert G; Miller, Christine E; Murtaugh, L Charles; Nicholson, Kelsey E; Noble, Katherine; O'Fallon, Brendan D; O'Shea, John M; Pattison, David C; Pedersen, Brent S; Petersen, Brandy J; Peterson, Bennet D; Pizzo, Lucilla; Reynolds, Hayley M; Rindler, Paul; Torr, Carrie B; Wen, Ting; Yost, H Joseph; Zhao, Jian; Yandell, Mark; Marth, Gabor T; Quinlan, Aaron R; Carey, John C; Shayota, Brian J; Tristani-Firouzi, Martin; Bonkowsky, Joshua L

From Expert Knowledge to Validation Resources: A Case for Using in Silico Approaches to Close the Gap in Available Reference Materials for Common Germline Genetic Tests

从专家知识到验证资源:利用计算机模拟方法弥补常见生殖系基因检测参考资料不足的案例分析

Roy, Somak; Tremblay, Martine W; Lockhart, Edward; Aradhya, Swaroop; Bayrak-Toydemir, Pinar; Bowser, Mark; DaRe, Jeana; Gibson, Kristin; Kennemer, Michael; Krueger, Christopher; Lebo, Matt; Mao, Rong; Nussbaum, Robert; O'Fallon, Brendan; Rosato, Andrew; Kalman, Lisa V; Funke, Birgit

Case report: Novel homozygous ACVRL1 missense variant in a family with hereditary hemorrhagic telangiectasia and pulmonary arterial hypertension: findings suggest a hypomorphic allele

病例报告:一家族性遗传性出血性毛细血管扩张症和肺动脉高压患者中发现一种新的纯合ACVRL1错义变异:研究结果提示为低活性等位基因

Mathavan, Akash; Mathavan, Akshay; Krekora, Urszula; Rao, Adityanarayan; Zumberg, Marc S; Justice, Jeb; Bayrak-Toydemir, Pinar; McDonald, Jamie; Ataya, Ali

RNA sequencing provides functional insights and diagnostic resolution in previously unsolved rare disease cases

RNA测序为以往无法确诊的罕见病病例提供了功能性见解和诊断依据。

Lewis, Robert G; O'Shea, John M; Pizzo, Lucilla; Wen, Ting; Fulmer, Makenzie L; Zhao, Jian; Verheijen, Jan; Zhang, Chaofan; Velinder, Matt; Nicholas, Thomas J; Boyden, Steven E; Ward, Alistair; Baldwin, Erin E; Andrews, Ashley; Ruiz, Joselin Hernandez; Marchetti, Marco; Viskochil, David; Carey, John C; Bleyl, Steven B; Butterfield, Russell J; Taliercio, Vanina; Botto, Lorenzo D; Mao, Rong; Bayrak-Toydemir, Pinar

Worth the Effort: Lessons for Discovery and Care From an Unusual Case of Gorlin Syndrome

值得付出努力:从一例罕见的戈林综合征病例中汲取的发现和护理经验

Taliercio, V; Zhao, J; Boyden, S E; Mao, R; Bayrak-Toydemir, P; Pflaum, A; Palumbos, J; Andrews, A; Baldwin, E E; Welt, C; Fait, Mackenzie; Botto, L D; Viskochil, D

Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles

AFF3 变体特异性病理生理机制对转录组谱有不同影响

Sissy Bassani, Jacqueline Chrast, Giovanna Ambrosini, Norine Voisin, Frédéric Schütz, Alfredo Brusco, Fabio Sirchia, Lydia Turban, Susanna Schubert, Rami Abou Jamra, Jan-Ulrich Schlump, Desiree DeMille, Pinar Bayrak-Toydemir, Gary Rex Nelson, Kristen Nicole Wong, Laura Duncan, Mackenzie Mosera, Chri

Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group

ClinGen低外显率/风险等位基因工作组关于风险等位基因证据整理、分类和报告的建议

Schmidt, Ryan J; Steeves, Marcie; Bayrak-Toydemir, Pinar; Benson, Katherine A; Coe, Bradley P; Conlin, Laura K; Ganapathi, Mythily; Garcia, John; Gollob, Michael H; Jobanputra, Vaidehi; Luo, Minjie; Ma, Deqiong; Maston, Glenn; McGoldrick, Kelly; Palculict, T Blake; Pesaran, Tina; Pollin, Toni I; Qian, Emily; Rehm, Heidi L; Riggs, Erin R; Schilit, Samantha L P; Sergouniotis, Panagiotis I; Tvrdik, Tatiana; Watkins, Nicholas; Zec, Lauren; Zhang, Wenying; Lebo, Matthew S

Investigation of the Genetic Determinants of Telangiectasia and Solid Organ Arteriovenous Malformation Formation in Hereditary Hemorrhagic Telangiectasia (HHT)

遗传性出血性毛细血管扩张症(HHT)中毛细血管扩张和实体器官动静脉畸形形成的遗传决定因素研究

Whitehead, Kevin J; Toydemir, Doruk; Wooderchak-Donahue, Whitney; Oakley, Gretchen M; McRae, Bryan; Putnam, Angelica; McDonald, Jamie; Bayrak-Toydemir, Pinar