Publications by authors named "Weimin Bi"

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Pathogenic XPO1 variants cause a dominant neurodevelopmental disorder.
Amber S E van Oirsouw, Pavla Nedbalova, Miroslava Hancarova, Jan Prchal, Darina Prchalova, Rachel Rabin, Weimin Bi, Nathaniel H Robin, Ellen van Binsbergen

Genet Med· November 2025

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Whole-genome sequencing reveals individual and cohort level insights into chromosome 9p syndromes.
Yingxi Wang, Eleanor I Sams, Rachel Slaugh, Sandra Crocker, Emily Cordova Hurtado, Weimin Bi, Robi D Mitra

Genome Med· October 2025

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A Case of Prader-Willi Syndrome With a Deletion Including MAGEL2 , NDN , and MKRN3 , but Excluding SNRPN and SNORD116.
Jannis Buecking, Yu An, Weimin Bi, Katrin Hinderhofer, Susanne Theiß

Am J Med Genet A· August 2025

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Unraveling the Molecular and Clinical Consequences of an Intragenic TRIP12 Duplication Using Genomic and RNA Analyses.
Haowei Du, Przemyslaw Szafranski, Amanda Gerard, Mahshid S Azamian, Weimin Bi

Am J Med Genet A· July 2025

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Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseases.
Daniella H Hock, Nikeisha J Caruana, Liana N Semcesen, Nicole J Lake, Luke E Formosa, David R L Robinson, Weimin Bi

Genome Med· May 2025

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Genomic Balancing Act: deciphering DNA rearrangements in the complex chromosomal aberration involving 5p15.2, 2q31.1, and 18q21.32.
Zain Dardas, Dana Marafi, Ruizhi Duan, Jawid M Fatih, Omnia F El-Rashidy, Weimin Bi

Eur J Hum Genet· March 2025

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Whole-Genome Sequencing Reveals Individual and Cohort Level Insights into Chromosome 9p Syndromes.
Yingxi Wang, Eleanor I Sams, Rachel Slaugh, Sandra Crocker, Emily Cordova Hurtado, Weimin Bi, Robi D Mitra

medRxiv· March 2025

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Detection of Clinically Relevant Monogenic Copy-Number Variants by a Comprehensive Genome-Wide Microarray with Exonic Coverage.
Matthew Hoi Kin Chau, Stephanie A Anderson, Rodger Song, Lance Cooper, Patricia A Ward, Weimin Bi

Clin Chem· January 2025

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Brain abscesses, neutropenia, and B-ALL: Multiple testing modalities required to confirm PDCD10 and ETV6 dual diagnoses.
Runjun D Kumar, Liesbeth Vossaert, Weimin Bi, Nichole Owen, Rachel E Rau

Cancer Genet· November 2024

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Leveraging the T2T assembly to resolve rare and pathogenic inversions in reference genome gaps.
Kristine Bilgrav Saether, Jesper Eisfeldt, Jesse D Bengtsson, Ming Yin Lun, Christopher M Grochowski, Weimin Bi

Genome Res· November 2024

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NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy.
Zain Dardas, Jawid M Fatih, Angad Jolly, Moez Dawood, Haowei Du, Weimin Bi

Genome Med· April 2024

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Mind the gap: the relevance of the genome reference to resolve rare and pathogenic inversions.
Kristine Bilgrav Saether, Jesper Eisfeldt, Jesse Bengtsson, Ming Yin Lun, Christopher M Grochowski, Weimin Bi

medRxiv· April 2024

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Genomic Balancing Act: Deciphering DNA rearrangements in the Complex Chromosomal Aberration involving 5p15.2, 2q31.1 and 18q21.32.
James Lupski, Zain Dardas, Dana Marafi, Ruizhi Duan, Jawid Fatih, Weimin Bi

Res Sq· February 2024

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Intrafamilial phenotypic heterogeneity in siblings with pseudohypoparathyroidism 1B due to maternal deletion.
John Odom, Carlos A Bacino, Lefkothea P Karaviti, Weimin Bi, Alfonso Hoyos-Martinez

J Pediatr Endocrinol Metab· January 2024

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RAB1A haploinsufficiency phenocopies the 2p14-p15 microdeletion and is associated with impaired neuronal differentiation.
Jonathan J Rios, Yang Li, Nandina Paria, Ryan J Bohlender, Chad Huff, Weimin Bi

Am J Hum Genet· December 2023

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Recurring germline mosaicism in a family due to reversion of an inherited derivative chromosome 8 from an 8;21 translocation with interstitial telomeric sequences.
Weimin Bi, Bo Yuan, Pengfei Liu, Jaclyn B Murry, Xiang Qin

J Med Genet· June 2023

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Chromosomal microarray analysis supplements exome sequencing to diagnose children with suspected inborn errors of immunity.
Breanna J Beers, Morgan N Similuk, Rajarshi Ghosh, Bryce A Seifert, Leila Jamal, Weimin Bi, Bibiana Bielekova

Front Immunol· May 2023

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Expansion of the clinical and molecular spectrum of WWOX-related epileptic encephalopathy.
Shuk Ching Chong, Ye Cao, Eva L W Fung, Soledad Kleppe, Karen W Gripp, Weimin Bi

Am J Med Genet A· March 2023

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Alternative polyadenylation alters protein dosage by switching between intronic and 3'UTR sites.
Nicola de Prisco, Caitlin Ford, Nathan D Elrod, Winston Lee, Lauren C Tang, Weimin Bi

Sci Adv· February 2023

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Compound heterozygosity of a de novo submicroscopic deletion and an inherited frameshift pathogenic variant in the gene in a fetus with bilaterally enlarged and echogenic kidneys, enlarged abdomen and oligohydramnios.
Takuya Sakyu, Samantha R Stover, Yue Wang, Patricia Ward, Manisha Gandhi, Weimin Bi

Clin Case Rep· February 2023

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Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus.
Mary R Sy, Jaynee Chauhan, Katrina Prescott, Aliza Imam, Alison Kraus, Weimin Bi

Am J Med Genet A· December 2022

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TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions.
Hadia Hijazi, Linda M Reis, Davut Pehlivan, Jonathan A Bernstein, Michael Muriello, Weimin Bi

Am J Hum Genet· December 2022

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Clinical exome sequencing uncovers a high frequency of Mendelian disorders in infants with stroke: A retrospective analysis.
Runjun D Kumar, Linyan Meng, Pengfei Liu, Christina Y Miyake, Kim C Worley, Weimin Bi

Am J Med Genet A· November 2022

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The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation.
Haowei Du, Angad Jolly, Christopher M Grochowski, Bo Yuan, Moez Dawood, Weimin Bi

Genome Med· October 2022

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Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits.
Bo Yuan, Katharina V Schulze, Nurit Assia Batzir, Jefferson Sinson, Hongzheng Dai, Weimin Bi

Genome Med· September 2022

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