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Papers共 134 篇Author StatisticsCo-AuthorSimilar Experts

By YearBy Citation主题筛选期刊级别筛选合作者筛选合作机构筛选
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主题
期刊级别
合作者
合作机构
P785: Premature Termination Codon Variants in CHD1 and SF3B2 in a Complex Pedigree with Phenotypic Variability
Jan Verheijen, John O'Shea, Steven Boyden,Thomas Nicholas, Erin Baldwin, Ashley Andrews,Lorenzo Botto,David Viskochil, Russell Butterfield,Pinar Bayrak-Toydemir,Rong Mao
Genetics in Medicine Open (2025): 103154
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P653: Introns to Insights: the Transformative Power of RNA Sequencing in the Diagnosis of Rare Genetic Disorders
Robert Lewis,Ting Wen, John O'Shea, Jian Zhao, Steven Boyden, Caleb Hocutt, Erin Baldwin,Jennie Vagher, Ashley Andrews,Thomas Nicholas, Alexander Chapin, Elaine Fan,Jessica Meznarich,David Viskochil,Lorenzo Botto,Pinar Bayrak-Toydemir,Rong Mao
Genetics in Medicine Open (2025): 103022
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P784: Novel De Novo KAT6A Variant in a Pediatric Patient with Multisystem Involvement
Chaofan Zhang, John O'Shea, Erin Baldwin, Ashley Andrews, Steven Boyden,Thomas Nicholas,Lorenzo Botto,Rong Mao,Pinar Bayrak-Toydemir
Genetics in Medicine Open (2025): 103153
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Identification of 2 Novel Noncoding Variants in Patients with Diamond-Blackfan Anemia Syndrome by Whole Genome Sequencing
Ting Wen, Steven E Boyden, Caleb M Hocutt, Robert G Lewis, Erin E Baldwin,Jennie Vagher, Ashley Andrews, Thomas J Nicholas, Alexander Chapin, Elaine M Fan,Lorenzo D Botto,Pinar Bayrak-Toydemir,Rong Mao,Jessica A Meznarich
Blood advancesno. 10 (2025): 2443-2452
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The Utah NeoSeq Project: a Collaborative Multidisciplinary Program to Facilitate Genomic Diagnostics in the Neonatal Intensive Care Unit
Sabrina Malone Jenkins, Rachel N Palmquist,Barry Moore, Steven E Boyden, Thomas J Nicholas,Pinar Bayrak-Toydemir, Rong Mao, J Andrew R Farrell, Carson H Holt, Shawn G Rynearson, Chelsea M Solorzano,Alistair Ward,D Hunter Best, Najla Al-Sweel, Dawn L Bentley,Luca Brunelli, Clement Y Chow, Devin W Close, Michael J Cormier, Malia J Deshotel, Jacob Durtschi, Erik J Eide, Luaiva Floyd, Eric K Fredrickson, Makenzie L Fulmer, Edgar J Hernandez,Ashley L Kapron,Mary Anne Karren, Robert G Lewis,Christine E Miller,L Charles Murtaugh, Kelsey E Nicholson,Katherine Noble, Brendan D O'Fallon, John M O'Shea, David C Pattison,Brent S Pedersen, Brandy J Petersen, Bennet D Peterson,Lucilla Pizzo, Hayley M Reynolds,Paul Rindler, Carrie B Torr,Ting Wen,H Joseph Yost, Jian Zhao,Mark Yandell,Gabor T Marth,Aaron R Quinlan,John C Carey,Brian J Shayota,Martin Tristani-Firouzi,Joshua L Bonkowsky
NPJ genomic medicineno. 1 (2025): 26-26
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O56: the Value of Cytogenetics in the Age of Genome Sequencing
Malia Olson, Erin Baldwin, Erica Andersen, Steven Boyden,David Viskochil, Hannah Anderson,Pinar Bayrak-Toydemir,Rong Mao, Ashley Andrews,Lorenzo Botto, Undiagnosed Diseases Network
Genetics in Medicine Open (2025): 102483
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P708: Investigating the Diagnostic Yield of Long Read Sequencing in a Selected Cohort of Families with Undiagnosed Disease
John O'Shea, Robert Lewis, Alexandra Rangel,Brendan O'Fallon, Andrew Dixon, Christina Glenzel, Megan Hirschi, Erica Clyde, Undiagnosed Diseases Network, Erin Baldwin, Ashley Andrews,Lorenzo Botto,Pinar Bayrak-Toydemir,Rong Mao
Genetics in Medicine Open (2025): 103077
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Author Statistics

#Papers: 134

#Citation: 5347

H-Index: 34

G-Index: 72

Sociability: 7

Diversity: 3

Activity: 15

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