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Pacific Northwest Research Institute

学者数10
论文数6
被引数0
关联论文 (5)
发表时间
Overexpression of SOX3 due to an X chromosome inversion leading to ovotesticular difference in sex development由于X染色体倒位导致SOX3过表达,进而引起卵巢睾丸性发育异常。
err2026-02-12
err0
errOAAI
errCarolina Gama Nascimento-Vidoti; Helena Fabbri-Scallet; Mara Sanches Guaragna; Melissa Bittencourt de Wallau; Vanessa Sodré de Souza; Silvia Souza da Costa; Ana Cristina Victorino Krepischi; Juliana Forte Mazzeu; Claudia M. B. Carvalho; Andréa Trevas Maciel-Guerra; Gil Guerra-Júnior; Társis Paiva Vieira
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An integrated platform for concurrent structural and single-nucleotide variants improves copy-number detection and reveals pathogenic alleles in undiagnosed Mendelian families一个用于并发结构变异和单核苷酸变异的集成平台,提高了拷贝数变异的检测能力,并在未诊断的孟德尔家族中揭示了致病等位基因。
err2025-12-31
err0
errOAAI
errHaowei Du; Ming Yin Lun; Lidiia Gagarina; Jesse D. Bengtsson; Christopher M. Grochowski; Michele G. Mehaffey; James Paul Hwang; Shalini N. Jhangiani; Sravya V. Bhamidipati; Donna M. Muzny; M. Cecilia Poli; Sebastian Ochoa; Ivan K. Chinn; Anna Lindstrand; Jennifer E. Posey; Richard A. Gibbs; Pengfei Liu; James R. Lupski; Claudia M. B. Carvalho
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GREGoR: accelerating genomics for rare diseasesGREGoR:加速罕见病基因组学研究
errNature
IF48.5
err2025-11-12
err0
PREAI
errMoez Dawood; Ben Heavner; Marsha M. Wheeler; Rachel A. Ungar; Jonathan LoTempio; Laurens Wiel; Seth Berger; Jonathan A. Bernstein; Jessica X. Chong; Emmanuèle C. Délot; Evan E. Eichler; James R. Lupski; Ali Shojaie; Michael E. Talkowski; Alex H. Wagner; Chia-Lin Wei; Christopher Wellington; Matthew T. Wheeler; Claudia M. B. Carvalho; Richard A. Gibbs; Casey A. Gifford; Susanne May; Danny E. Miller; Heidi L. Rehm; Kaitlin E. Samocha; Fritz J. Sedlazeck; Eric Vilain; Anne O’Donnell-Luria; Jennifer E. Posey; Lisa H. Chadwick; Michael J. Bamshad; Stephen B. Montgomery
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Two Commonly Reported Incidental Variants in OTC are Associated with Late-Onset Disease两种在OTC中常见报告的偶发变异与迟发性疾病相关
err2025-10-16
err0
errOAAI
errSteven H. Lang; Russell S. Lo; Gareth A. Cromie; Aimée M. Dudley; Nicholas Ah Mew; Kara Simpson; Vernon Reid Sutton; Sandra Darilek; Saima Ali; Matthew T. Snyder; Brendan Lee; Ronit Marom; Sandesh C.S. Nagamani; Lindsay C. Burrage
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