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

WNT4 deficiency impacts heart, diaphragm, and palate development: Insights from human genetics, machine learning, and mouse models

WNT4 缺陷影响心脏、膈肌和腭的发育:来自人类遗传学、机器学习和鼠模型的启示

Hernández-García, Andrés; Kim, Bum Jun; Chitayat, David; Shannon, Patrick; Hedges, Stephanie; Al Bandari, Maria; Guillen Sacoto, Maria J; Bates, Emily Anne; Ozekin, Yunus H; Faundes, Victor; Luna, Pamela N; Shaw, Chad A; Rasmussen, Tara L; Hsu, Chih-Wei; Scott, Daryl A

Brain Abnormalities in Prenatally Diagnosed Rubinstein-Taybi Syndrome

产前诊断的鲁宾斯坦-泰比综合征的脑部异常

Carmant, Laurence S; Miller, Elka; Blaser, Susan; Shannon, Patrick; Chong, Karen; Chitayat, David; Shinar, Shiri

KIDINS220 Variant Associated With Hypoplasia of the Corpus Callosum and Aqueduct Stenosis

KIDINS220 变异与胼胝体发育不全和导水管狭窄相关

Ghannad-Zadeh, Kimia; Shannon, Patrick; Jobling, Rebekah; Miller, Elka; Chong, Karen; Mathews, Erin; Chitayat, David; Shinar, Shiri

Pathogenic variants in BORCS5 Cause a Spectrum of Neurodevelopmental and Neurodegenerative Disorders with Lysosomal Dysfunction.

BORCS5 中的致病变异会导致一系列神经发育障碍和神经退行性疾病,并伴有溶酶体功能障碍

Mencacci Niccolò E, Minakaki Georgia, Maroofian Reza, De Pace Raffaella, Paimboeuf Adeline, Shannon Patrick, Chitayat David, Magrinelli Francesca, Peng Wesley J, Chatterjee Diptaman, Eldessouky Sara H, Baptista Julia, Marton Tamas, Vogt Julie, Ortigoza-Escobar Juan Dario, Martorell Loreto, Gómez-Chiari Marta, Wentzensen Ingrid M, Kamsteeg Erik-Jan, Zaki Maha S, Scardamaglia Annarita, Zifarelli Giovanni, Al-Hassnan Zuhair Nasser, Miller Elka, Shinar Shiri, Matsa Lova S, Appikonda Sri Hari Chandan, Schwake Michael, Severino Mariasavina, Houlden Henry, Patten Shunmoogum A, Bonifacino Juan S, Bhatia Kailash P, Krainc Dimitri

Expanding the phenotypic spectrum of NOTCH1 variants: clinical manifestations in families with congenital heart disease

扩展 NOTCH1 变异的表型谱:先天性心脏病家族的临床表现

Stanley, Kaitlin J; Kalbfleisch, Kelsey J; Moran, Olivia M; Chaturvedi, Rajiv R; Roifman, Maian; Chen, Xin; Manshaei, Roozbeh; Martin, Nicole; McDermott, Simina; McNiven, Vanda; Myles-Reid, Diane; Nield, Lynne E; Reuter, Miriam S; Schwartz, Marci L B; Shannon, Patrick; Silver, Rachel; Somerville, Cherith; Teitelbaum, Ronni; Zahavich, Laura; Bassett, Anne S; Kim, Raymond H; Mital, Seema; Chitayat, David; Jobling, Rebekah K

Fetal akinesia deformation sequence syndrome associated with recessive TTN variants

与隐性TTN变异相关的胎儿运动不能畸形序列综合征

Alkhunaizi, Ebba; Martin, Nicole; Jelin, Angie C; Rosner, Mara; Bailey, Diana J; Steiner, Laurie A; Lakhani, Saquib; Ji, Weizhen; Katzman, Philip J; Forster, Katherine R; Jarinova, Olga; Shannon, Patrick; Chitayat, David

Diagnosis of TBC1D32-associated conditions: Expanding the phenotypic spectrum of a complex ciliopathy

TBC1D32相关疾病的诊断:扩展复杂纤毛病的表型谱

Harris, Sarah C; Chong, Karen; Chitayat, David; Gilmore, Kelly L; Jorge, Alexander A L; Freire, Bruna L; Lerario, Antonio; Shannon, Patrick; Cope, Heidi; Gallentine, William B; Le Guyader, Gwenal; Bilan, Frederic; Létard, Pascaline; Davis, Erica E; Vora, Neeta L

Ensuring the need is met: A 50-year simulation study of the National Kidney Registry's family voucher program

确保需求得到满足:国家肾脏登记处家庭代金券计划的50年模拟研究

Cooper, Matthew; Leeser, David B; Flechner, Stuart M; Beaumont, Jennifer L; Waterman, Amy D; Shannon, Patrick W; Ronin, Matthew; Hil, Garet; Veale, Jeffrey L

Client-level predictors of treatment engagement, outcome and dropout: moving beyond demographics

客户层面的治疗参与度、疗效和脱落预测因素:超越人口统计学视角

Youn, Soo-Jeong; Mackintosh, Margaret-Anne; Wiltsey Stirman, Shannon; Patrick, Kaylie A; Aguilar Silvan, Yesenia; Bartuska, Anna D; Shtasel, Derri L; Marques, Luana

Abnormal fetal cerebral and vascular development in hypoplastic left heart syndrome

左心发育不全综合征中胎儿脑血管发育异常

Kinnear, Caroline; Haranal, Maruti; Shannon, Patrick; Jaeggi, Edgar; Chitayat, David; Mital, Seema