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

A Study of the Significance of Platelet Indices in Patients With Preeclampsia Attending a Tertiary Care Center in Jharkhand

一项关于血小板指标在贾坎德邦一家三级医疗中心就诊的先兆子痫患者中的意义的研究

Singh, Deepanshu; Paswan, Manoj K; Mahto, Sunil Kumar; Akanchha Kujur, Shipha; Tirkey, Deepali

Development of a comprehensive cardiovascular disease genetic risk assessment test

开发一种全面的心血管疾病遗传风险评估测试

Amendola, Laura M; Coffey, Alison J; Lowry, Josh; Avecilla, James; Malhotra, Alka; Chawla, Aditi; Thacker, Stetson; Taylor, Julie P; Rajkumar, Revathi; Brown, Carolyn M; Golden-Grant, Katie; Hejja, Rueben; Kalista, Tasha; Lee, Jennifer A; Medrano, Phillip; Milewski, Becky; Mullen, Felipe; Walker, Andrew; Huertas-Vazquez, Adriana; Longoni, Mauro; Robinson, Keisha; Perry, Denise L; Hostin, Damon; Ajay, Subramanian S; Kesari, Akanchha; Strom, Samuel P; Margulies, Elliott; Belmont, John; Lanfear, David E; Taft, Ryan J

Multiple molecular diagnoses identified through genome sequencing in individuals with suspected rare disease

通过基因组测序在疑似罕见病患者中鉴定出多种分子诊断

Malhotra, Alka; Thorpe, Erin; Coffey, Alison J; Rajkumar, Revathi; Adjeman, Josephine; Naa Adjeley Adjetey, Naomi Dianne; Aglobitse, Sharron; Allotey, Felix; Arsov, Todor; Ashong, Joyce; Badoe, Ebenezer Vincent; Basel, Donald; Brew, Yvonne; Brown, Chester; Bosfield, Kerri; Casas, Kari; Cornejo-Olivas, Mario; Davis-Keppen, Laura; Freed, Abbey; Gibson, Kate; Jayakar, Parul; Jones, Marilyn C; Kawome, Martina; Lumaka, Aimé; Maier, Ursula; Makay, Prince; Manassero, Gioconda; Marbell-Wilson, Marilyn; Marcuccilli, Charles; Masser-Frye, Diane; McCarrier, Julie; Mills, Hannah-Sharon; Montoya, Jeny Balazar; Mubungu, Gerrye; Ngole, Mamy; Perez, Jorge; Pivnick, Eniko; Duenas-Roque, Milagros M; Pena Salguero, Hildegard; Serize, Arturo; Shinawi, Marwan; Sirchia, Fabio; Soler-Alfonso, Claudia; Taylor, Alan; Thompson, Lauren; Vance, Gail; Vanderver, Adeline; Vaux, Keith; Velasco, Danita; Wiafe, Samuel; Taft, Ryan J; Perry, Denise L; Kesari, Akanchha

Extraskeletal Ewing's Sarcoma in a Female: A Rare Case Presentation

女性骨外尤文氏肉瘤:一例罕见病例报告

Jain, Hrithik Kaushal; Tomar, Arushi; Panwar, Payal; Rajput, Aman; Singh, Akanchha

The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the clinical validity of 111 gene-disease relationships

ClinGen综合征疾病基因注释专家组:评估111个基因-疾病关系的临床有效性

Broeren, Eleanor C; Gitau, Vanessa N; Byrne, Alicia B; Ajuyah, Pamela; Balzotti, Marie B; Berg, Jonathan S; Bluske, Krista; Bowen, B Monica; Brown, Matthew P; Buchanan, Amanda; Burns, Brendan T; Burns, Nicole J; Chandrasekhar, Anjana; Chawla, Aditi; Chong, Jessica X; Chopra, Maya; Clause, Amanda R; DiStefano, Marina T; DiTroia, Stephanie; Elnagheeb, Marwa A; Girod, Amanda N; Goel, Himanshu; Golden-Grant, Katie L; Ha, Thuong; Hamosh, Ada; Huang, Jennifer M; Hughes, Madeline Y; Jamuar, Saumya S; Kam, Sylvia; Kesari, Akanchha; Koh, Ai Ling; Lassiter, Rhonda N T; Leigh, Sarah E; Lemire, Gabrielle; Lim, Jiin Ying; Malhotra, Alka; McCurry, Hannah R; Milewski, Becky; Moosa, Shahida; Murray, Stephen A; Owens, Emma H; Palmer, Elizabeth E; Palus, Brooke C; Patel, Mayher J; Rajkumar, Revathi; Ratliff, Julie C; Raymond, F Lucy; Della Ripa Rodrigues Assis, Bruno; Sajan, Samin A; Schlachetzki, Zinayida; Schmidt, Sarah A; Stark, Zornitza; Strom, Samuel P; Taylor, Julie P; Thaxton, Courtney; Thrush, Devon L; Toro, Sabrina; Tshering, Kezang C; Vasilevsky, Nicole A; Wayburn, Bess; Webb, Ryan F; O'Donnell-Luria, Anne; Coffey, Alison J

De novo variants in GABRA4 are associated with a neurological phenotype including developmental delay, behavioral abnormalities and epilepsy

GABRA4基因的新生变异与神经系统表型相关,包括发育迟缓、行为异常和癫痫。

Sajan, Samin A; Gradisch, Ralph; Vogel, Florian D; Coffey, Alison J; Salyakina, Daria; Soler, Diana; Jayakar, Parul; Jayakar, Anuj; Bianconi, Simona E; Cooper, Annina H; Liu, Shuxi; William, Nancy; Benkel-Herrenbrück, Ira; Maiwald, Robert; Heller, Corina; Biskup, Saskia; Leiz, Steffen; Westphal, Dominik S; Wagner, Matias; Clarke, Amy; Stockner, Thomas; Ernst, Margot; Kesari, Akanchha; Krenn, Martin

A framework for the evaluation and reporting of incidental findings in clinical genomic testing

临床基因组检测中意外发现的评估和报告框架

Brown, Carolyn M; Amendola, Laura M; Chandrasekhar, Anjana; Hagelstrom, R Tanner; Halter, Gillian; Kesari, Akanchha; Thorpe, Erin; Perry, Denise L; Taft, Ryan J; Coffey, Alison J

Expert panel curation of 31 genes in relation to limb girdle muscular dystrophy

专家组筛选出与肢带型肌营养不良症相关的31个基因

Mohan, Shruthi; McNulty, Shannon; Thaxton, Courtney; Elnagheeb, Marwa; Owens, Emma; Flowers, May; Nunnery, Teagan; Self, Autumn; Palus, Brooke; Gorokhova, Svetlana; Kennedy, April; Niu, Zhiyv; Johari, Mridul; Maiga, Alassane Baneye; Macalalad, Kelly; Clause, Amanda R; Beckmann, Jacques S; Bronicki, Lucas; Cooper, Sandra T; Ganesh, Vijay S; Kang, Peter B; Kesari, Akanchha; Lek, Monkol; Levy, Jennifer; Rufibach, Laura; Savarese, Marco; Spencer, Melissa J; Straub, Volker; Tasca, Giorgio; Weihl, Conrad C

Metaplastic Breast Cancer: A Case Report on a Rare Neoplasm of the Breast

化生性乳腺癌:一例罕见乳腺肿瘤病例报告

Akanchha Kujur, Shipha; Tirkey, Deepali; Singh, Deepanshu; Banerjee, Saurav; Ashok, Chanchal

Expert Panel Curation of 31 Genes in Relation to Limb Girdle Muscular Dystrophy

专家组筛选出与肢带型肌营养不良症相关的31个基因

Mohan, Shruthi; McNulty, Shannon; Thaxton, Courtney; Elnagheeb, Marwa; Owens, Emma; Flowers, May; Nunnery, Teagan; Self, Autumn; Palus, Brooke; Gorokhova, Svetlana; Kennedy, April; Niu, Zhiyv; Johari, Mridul; Maiga, Alassane Baneye; Macalalad, Kelly; Clause, Amanda R; Beckmann, Jacques S; Bronicki, Lucas; Cooper, Sandra T; Ganesh, Vijay S; Kang, Peter B; Kesari, Akanchha; Lek, Monkol; Levy, Jennifer; Rufibach, Laura; Savarese, Marco; Spencer, Melissa J; Straub, Volker; Tasca, Giorgio; Weihl, Conrad C