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

Absolute neutrophil count nadir in healthy pediatric patients with the Duffy-null phenotype

Duffy 基因型阴性健康儿科患者的绝对中性粒细胞计数最低值

Merz, Lauren E; Li, Shih-Hon; Ney, Gina; Michniacki, Thomas F; Hannibal, Mark C; Walkovich, Kelly J

Novel multilocus imprinting disturbances in a child with expressive language delay and intellectual disability

一名患有表达性语言发育迟缓和智力障碍的儿童被发现存在新型多位点印记紊乱

Tayeh, Marwan K; DeVaul, Janean; LeSueur, Kristin; Yang, Chen; Bedoyan, Jirair K; Thomas, Peedikayil; Hannibal, Mark C; Innis, Jeffrey W

Genotype-phenotype analysis of 523 patients by genetics evaluation and clinical exome sequencing

通过遗传学评估和临床外显子组测序对 523 例患者进行基因型-表型分析

Ziats, Mark N; Ahmad, Ayesha; Bernat, John A; Fisher, Rachel; Glassford, Megan; Hannibal, Mark C; Jacher, Joseph E; Weiser, Natasha; Keegan, Catherine E; Lee, Kristen N; Marzulla, Tessa B; O'Connor, Bridget C; Quinonez, Shane C; Seemann, Lauren; Turner, Lauren; Bielas, Stephanie; Harris, Nicholas L; Ogle, Jacob D; Innis, Jeffrey W; Martin, Donna M

Further clinical and molecular delineation of the 15q24 microdeletion syndrome

对15q24微缺失综合征进行进一步的临床和分子特征分析

Mefford, Heather C; Rosenfeld, Jill A; Shur, Natasha; Slavotinek, Anne M; Cox, Victoria A; Hennekam, Raoul C; Firth, Helen V; Willatt, Lionel; Wheeler, Patricia; Morrow, Eric M; Cook, Joseph; Sullivan, Rachel; Oh, Albert; McDonald, Marie T; Zonana, Jonathan; Keller, Kory; Hannibal, Mark C; Ball, Susie; Kussmann, Jennifer; Gorski, Jerome; Zelewski, Susan; Banks, Valerie; Smith, Wendy; Smith, Rosemarie; Paull, Lindsay; Rosenbaum, Kenneth N; Amor, David J; Silva, Joao; Lamb, Allen; Eichler, Evan E

Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome

110例歌舞伎综合征患者MLL2(ALR)基因突变谱分析

Hannibal, Mark C; Buckingham, Kati J; Ng, Sarah B; Ming, Jeffrey E; Beck, Anita E; McMillin, Margaret J; Gildersleeve, Heidi I; Bigham, Abigail W; Tabor, Holly K; Mefford, Heather C; Cook, Joseph; Yoshiura, Koh-ichiro; Matsumoto, Tadashi; Matsumoto, Naomichi; Miyake, Noriko; Tonoki, Hidefumi; Naritomi, Kenji; Kaname, Tadashi; Nagai, Toshiro; Ohashi, Hirofumi; Kurosawa, Kenji; Hou, Jia-Woei; Ohta, Tohru; Liang, Deshung; Sudo, Akira; Morris, Colleen A; Banka, Siddharth; Black, Graeme C; Clayton-Smith, Jill; Nickerson, Deborah A; Zackai, Elaine H; Shaikh, Tamim H; Donnai, Dian; Niikawa, Norio; Shendure, Jay; Bamshad, Michael J

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

外显子组测序发现 MLL2 基因突变是歌舞伎综合征的病因。

Ng, Sarah B; Bigham, Abigail W; Buckingham, Kati J; Hannibal, Mark C; McMillin, Margaret J; Gildersleeve, Heidi I; Beck, Anita E; Tabor, Holly K; Cooper, Gregory M; Mefford, Heather C; Lee, Choli; Turner, Emily H; Smith, Joshua D; Rieder, Mark J; Yoshiura, Koh-Ichiro; Matsumoto, Naomichi; Ohta, Tohru; Niikawa, Norio; Nickerson, Deborah A; Bamshad, Michael J; Shendure, Jay

Duplication within the SEPT9 gene associated with a founder effect in North American families with hereditary neuralgic amyotrophy.

SEPT9 基因的重复与北美遗传性神经痛性肌萎缩症家族的创始人效应有关

Landsverk Megan L, Ruzzo Elizabeth K, Mefford Heather C, Buysse Karen, Buchan Jillian G, Eichler Evan E, Petty Elizabeth M, Peterson Esther A, Knutzen Dana M, Barnett Karen, Farlow Martin R, Caress Judy, Parry Gareth J, Quan Dianna, Gardner Kathy L, Hong Ming, Simmons Zachary, Bird Thomas D, Chance Phillip F, Hannibal Mark C

Unexpected structural complexity of supernumerary marker chromosomes characterized by microarray comparative genomic hybridization

微阵列比较基因组杂交技术揭示了超数标记染色体的意外结构复杂性

Tsuchiya, Karen D; Opheim, Kent E; Hannibal, Mark C; Hing, Anne V; Glass, Ian A; Raff, Michael L; Norwood, Thomas; Torchia, Beth A