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Marcia Willing

university of pittsburgh
H指数:50
被引数:8,432

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A comparative analysis of RAS variants in patients with disorders of somatic mosaicism

体细胞镶嵌障碍患者RAS变异的比较分析

2023-03-013
OAAI
Molecular characterization and investigation of the role of genetic variation in phenotypic variability and response to treatment in a large pediatric Marfan syndrome cohort
2022-05-0114
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ITSN1: a novel candidate gene involved in autosomal dominant neurodevelopmental disorder spectrum
2021-10-288
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Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

RFX家族转录因子的破坏会导致自闭症,注意力缺陷/多动障碍,智力障碍和行为失调

2021-06-0133
OAAI
Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction

突变特异性病理生理机制定义与SATB1功能障碍相关的不同神经发育障碍

2021-02-0132
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Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients
2020-12-0451
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Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency

Lamb-shaffer综合征的遗传和临床谱的扩大,这是由于SOX5单倍体不足引起的神经发育障碍

2020-03-0125
OAAI
POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4

Treacher Collins综合征4型的POLR1B和神经嵴细胞异常

2020-03-0162
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Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy
2020-01-3038
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Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity
2019-11-2523
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CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language (vol 9, 4619, 2018)
2019-05-021
OAAI
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language (vol 9, 4619, 2018)
2019-02-150
OAAI
De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms
2019-01-2427
OAAI
Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay

扩大BAF相关疾病的范围: SMARCC2的从头变体导致智力障碍和发育迟缓的综合征

2019-01-0163
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Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome

双等位基因POLR3A功能缺失变异导致常染色体隐性wiedemann-rautenstrauch综合征

2018-12-0146
OAAI
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
2018-11-0575
OAAI
Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling
2017-09-12197
OAAI
GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects
2017-04-04195
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