Stottmann Rolf W相关文献与解析，生知库 | 链接生命科学的每一步

日期影响因子

Bi-allelic INTU variants define a ciliopathy disorder characterized by orofacial, digital, and cardiac anomalies

INTU双等位基因变异定义了一种纤毛病，其特征是口面部、手指和心脏异常。

期刊:HGG Advances

影响因子:3.6

doi:10.1016/j.xhgg.2025.100518

Rushforth, Rebekah; Reynolds, Kurt; Estes, Steven I; Nolan, Daniel K; Mori, Mari; Koboldt, Daniel C; Hunter, Jesse M; Stottmann, Rolf W

发表日期：2026

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Recessive AARS1 variants perturb human and mouse development

隐性AARS1变异会扰乱人类和小鼠的发育

期刊:HGG Advances

影响因子:3.6

doi:10.1016/j.xhgg.2026.100565

Watts, Jennifer L; Costantino, Nicole; Husami, Ammar; Dayarathna, Thamara; Willeke, Logan; Peña, Loren D M; Seiwert, Elizabeth; Gilbert, Donald L; Stottmann, Rolf W

发育与干细胞

发表日期：2026

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Ttc21b is required for proper proliferation of neural progenitor cells.

Ttc21b 是神经祖细胞正常增殖所必需的。

期刊:Disease Models & Mechanisms

影响因子:3.3

doi:10.1242/dmm.052392

Niewoehner Rebekah, Paulding David, Leal Jesus M, Rushforth Rebekah, Stottmann Rolf W

细胞生物学

发表日期：2026

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Detection of the Heterozygous Recurrent MAX p.(Arg60Gln) Variant in Two Females Confirms and Expands the Phenotypic Spectrum of Polydactyly-Macrocephaly Syndrome

在两名女性中检测到杂合复发性 MAX p.(Arg60Gln) 变异，证实并扩展了多指-巨头综合征的表型谱。

期刊:Clinical Genetics

影响因子:2.3

doi:10.1111/cge.70101

Showpnil, Iftekhar A; Feinstein-Goren, Neta; Greenbaum, Lior; Barel, Ortal; Koboldt, Daniel C; Brugmann, Samantha A; Weaver, Kathryn Nicole; Slavotinek, Anne; Pode-Shakked, Ben; Stottmann, Rolf W

发表日期：2026

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De Novo Heterozygous ZFX Frameshift Variant in a Female With an X-Linked Neurodevelopmental Disorder

一名患有X连锁神经发育障碍的女性，其新发杂合ZFX移码变异

期刊:American Journal of Medical Genetics Part A

影响因子:1.7

doi:10.1002/ajmg.a.64280

Showpnil, Iftekhar A; Daley, Allison; Sites, Emily R; Plourde, Shayne M; Hunter, Jesse M; Bartholomew, Dennis W; Lehman, April N; Koboldt, Daniel C; Stottmann, Rolf W

发育与干细胞

发表日期：2026

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Expanding the phenotypic spectrum of CSNK2A1-associated Okur-Chung neurodevelopmental syndrome

扩展CSNK2A1相关Okur-Chung神经发育综合征的表型谱

期刊:HGG Advances

影响因子:3.6

doi:10.1016/j.xhgg.2024.100379

Ramadesikan, Swetha; Showpnil, Iftekhar A; Marhabaie, Mohammad; Daley, Allison; Varga, Elizabeth A; Gurusamy, Umamaheswaran; Pastore, Matthew T; Sites, Emily R; Manickam, Murugu; Bartholomew, Dennis W; Hunter, Jesse M; White, Peter; Wilson, Richard K; Stottmann, Rolf W; Koboldt, Daniel C

发育与干细胞

发表日期：2025

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Dmxl1 is required for survival in the mouse to organogenesis stages of development.

Dmxl1 是小鼠存活到器官发生发育阶段所必需的。

期刊:Differentiation

影响因子:2.6

doi:10.1016/j.diff.2025.100917

Vontell Andrew M, Willeke Logan, Iyyanar Paul P R, Stottmann Rolf W

发育与干细胞

发表日期：2025

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Genetic analysis and functional assessment of a TGFBR2 variant in micrognathia and cleft palate.

对小颌畸形和腭裂中 TGFBR2 变异体的遗传分析和功能评估

期刊:PLoS One

影响因子:2.6

doi:10.1371/journal.pone.0324803

Michaels Jes-Rite, Iyyanar Paul P R, Husami Ammar, Vontell Andrew M, Brugmann Samantha A, Stottmann Rolf W

发表日期：2025

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Cse1l Regulates Neural Crest Cell Survival and is Critical for Craniofacial and Cardiac Development

Cse1l 调控神经嵴细胞存活，对颅面和心脏发育至关重要

doi:10.1101/2025.05.06.652282

Iyyanar, Paul P R; Stottmann, Rolf W

发育与干细胞

细胞生物学

发表日期：2025

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Perdurant TTC21B protein in the early mouse embryo is required for proper forebrain neural progenitor proliferation

在小鼠早期胚胎中，持久存在的TTC21B蛋白是前脑神经祖细胞正常增殖所必需的。

doi:10.1101/2025.01.14.632919

Niewoehner, Rebekah; Paulding, David; Leal, Jesus; Stottmann, Rolf W

细胞生物学

发表日期：2025

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