WEIMIN BI to Humans
This is a "connection" page, showing publications WEIMIN BI has written about Humans.
Connection Strength
0.471
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Detection of Clinically Relevant Monogenic Copy-Number Variants by a Comprehensive Genome-Wide Microarray with Exonic Coverage. Clin Chem. 2025 Jan 03; 71(1):141-154.
Score: 0.026
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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. J Med Genet. 2023 06; 60(6):547-556.
Score: 0.022
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PPP3CA truncating variants clustered in the regulatory domain cause early-onset refractory epilepsy. Clin Genet. 2021 08; 100(2):227-233.
Score: 0.021
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CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels. Genet Med. 2020 10; 22(10):1633-1641.
Score: 0.019
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Novel applications of array comparative genomic hybridization in molecular diagnostics. Expert Rev Mol Diagn. 2018 06; 18(6):531-542.
Score: 0.017
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De novo apparent loss-of-function mutations in PRR12 in three patients with intellectual disability and iris abnormalities. Hum Genet. 2018 Mar; 137(3):257-264.
Score: 0.016
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4p16.3 microdeletions and microduplications detected by chromosomal microarray analysis: New insights into mechanisms and critical regions. Am J Med Genet A. 2016 10; 170(10):2540-50.
Score: 0.015
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Whole exome sequencing identifies the first STRADA point mutation in a patient with polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome (PMSE). Am J Med Genet A. 2016 08; 170(8):2181-5.
Score: 0.014
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Comparison of chromosome analysis and chromosomal microarray analysis: what is the value of chromosome analysis in today's genomic array era? Genet Med. 2013 Jun; 15(6):450-7.
Score: 0.011
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Co-occurrence of recurrent duplications of the DiGeorge syndrome region on both chromosome 22 homologues due to inherited and de novo events. J Med Genet. 2012 Nov; 49(11):681-8.
Score: 0.011
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Detection of =1Mb microdeletions and microduplications in a single cell using custom oligonucleotide arrays. Prenat Diagn. 2012 Jan; 32(1):10-20.
Score: 0.011
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Increased LIS1 expression affects human and mouse brain development. Nat Genet. 2009 Feb; 41(2):168-77.
Score: 0.009
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Rapid prenatal diagnosis using uncultured amniocytes and oligonucleotide array CGH. Prenat Diagn. 2008 Oct; 28(10):943-9.
Score: 0.009
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RAI1 point mutations, CAG repeat variation, and SNP analysis in non-deletion Smith-Magenis syndrome. Am J Med Genet A. 2006 Nov 15; 140(22):2454-63.
Score: 0.007
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Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome. Hum Genet. 2004 Nov; 115(6):515-24.
Score: 0.006
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Genomic Balancing Act: deciphering DNA rearrangements in the complex chromosomal aberration involving 5p15.2, 2q31.1, and 18q21.32. Eur J Hum Genet. 2025 Mar; 33(2):231-238.
Score: 0.006
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NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy. Genome Med. 2024 04 03; 16(1):53.
Score: 0.006
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Intrafamilial phenotypic heterogeneity in siblings with pseudohypoparathyroidism 1B due to maternal STX16 deletion. J Pediatr Endocrinol Metab. 2024 Jan 29; 37(1):84-89.
Score: 0.006
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Reciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion or duplication of chromosome 17p11.2. Am J Hum Genet. 2003 Dec; 73(6):1302-15.
Score: 0.006
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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. Am J Hum Genet. 2022 12 01; 109(12):2270-2282.
Score: 0.006
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The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation. Genome Med. 2022 10 27; 14(1):122.
Score: 0.006
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Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits. Genome Med. 2022 09 30; 14(1):113.
Score: 0.006
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Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus. Am J Med Genet A. 2022 12; 188(12):3492-3504.
Score: 0.006
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Clinical exome sequencing uncovers a high frequency of Mendelian disorders in infants with stroke: A retrospective analysis. Am J Med Genet A. 2022 11; 188(11):3184-3190.
Score: 0.006
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Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse. Genome Res. 2002 May; 12(5):713-28.
Score: 0.005
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LMOD2-related dilated cardiomyopathy presenting in late infancy. Am J Med Genet A. 2022 06; 188(6):1858-1862.
Score: 0.005
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Retrospective analysis of a clinical exome sequencing cohort reveals the mutational spectrum and identifies candidate disease-associated loci for BAFopathies. Genet Med. 2022 02; 24(2):364-373.
Score: 0.005
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A rare description of pure partial trisomy of 16q12.2q24.3 and review of the literature. Am J Med Genet A. 2021 10; 185(10):2903-2912.
Score: 0.005
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Clinical characterization of individuals with the distal 1q21.1 microdeletion. Am J Med Genet A. 2021 05; 185(5):1388-1398.
Score: 0.005
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Quantitative Assessment of Parental Somatic Mosaicism for Copy-Number Variant (CNV) Deletions. Curr Protoc Hum Genet. 2020 06; 106(1):e99.
Score: 0.005
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Parental somatic mosaicism for CNV deletions - A need for more sensitive and precise detection methods in clinical diagnostics settings. Genomics. 2020 09; 112(5):2937-2941.
Score: 0.005
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GARS-related disease in infantile spinal muscular atrophy: Implications for diagnosis and treatment. Am J Med Genet A. 2020 05; 182(5):1167-1176.
Score: 0.005
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Loss of Oxidation Resistance 1, OXR1, Is Associated with an Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal Dysfunction. Am J Hum Genet. 2019 12 05; 105(6):1237-1253.
Score: 0.005
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Validation Studies for Single Circulating Trophoblast Genetic Testing as a Form of Noninvasive Prenatal Diagnosis. Am J Hum Genet. 2019 12 05; 105(6):1262-1273.
Score: 0.005
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A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing. Genome Med. 2019 07 26; 11(1):48.
Score: 0.005
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Reanalysis of Clinical Exome Sequencing Data. N Engl J Med. 2019 06 20; 380(25):2478-2480.
Score: 0.004
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Atlas-CNV: a validated approach to call single-exon CNVs in the eMERGESeq gene panel. Genet Med. 2019 09; 21(9):2135-2144.
Score: 0.004
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Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes. Am J Hum Genet. 2019 03 07; 104(3):422-438.
Score: 0.004
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Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies. Genet Med. 2019 08; 21(8):1797-1807.
Score: 0.004
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Amish nemaline myopathy and dilated cardiomyopathy caused by a homozygous contiguous gene deletion of TNNT1 and TNNI3 in a Mennonite child. Eur J Med Genet. 2019 Nov; 62(11):103567.
Score: 0.004
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Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder. Genome Med. 2018 09 28; 10(1):74.
Score: 0.004
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PSTPIP1-associated myeloid-related proteinemia inflammatory syndrome: A rare cause of childhood neutropenia associated with systemic inflammation and hyperzincemia. Pediatr Blood Cancer. 2019 01; 66(1):e27439.
Score: 0.004
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Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. Genet Med. 2019 03; 21(3):663-675.
Score: 0.004
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Genotype-phenotype correlations in individuals with pathogenic RERE variants. Hum Mutat. 2018 05; 39(5):666-675.
Score: 0.004
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Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management. JAMA Pediatr. 2017 12 04; 171(12):e173438.
Score: 0.004
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Positive predictive value estimates for cell-free noninvasive prenatal screening from data of a large referral genetic diagnostic laboratory. Am J Obstet Gynecol. 2017 12; 217(6):691.e1-691.e6.
Score: 0.004
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Identification of novel candidate disease genes from de novo exonic copy number variants. Genome Med. 2017 09 21; 9(1):83.
Score: 0.004
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Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features. Am J Hum Genet. 2017 Apr 06; 100(4):676-688.
Score: 0.004
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Lessons learned from additional research analyses of unsolved clinical exome cases. Genome Med. 2017 03 21; 9(1):26.
Score: 0.004
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Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features. Hum Genet. 2017 04; 136(4):377-386.
Score: 0.004
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Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation. N Engl J Med. 2017 01 05; 376(1):21-31.
Score: 0.004
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Mechanisms for Complex Chromosomal Insertions. PLoS Genet. 2016 Nov; 12(11):e1006446.
Score: 0.004
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Novel EED mutation in patient with Weaver syndrome. Am J Med Genet A. 2017 Feb; 173(2):541-545.
Score: 0.004
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De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive. Am J Hum Genet. 2016 09 01; 99(3):720-727.
Score: 0.004
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Comparison of three whole genome amplification methods for detection of genomic aberrations in single cells. Prenat Diagn. 2016 Sep; 36(9):823-30.
Score: 0.004
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CRIPT exonic deletion and a novel missense mutation in a female with short stature, dysmorphic features, microcephaly, and pigmentary abnormalities. Am J Med Genet A. 2016 08; 170(8):2206-11.
Score: 0.004
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Neurodevelopmental and neurobehavioral characteristics in males and females with CDKL5 duplications. Eur J Hum Genet. 2015 Jul; 23(7):915-21.
Score: 0.003
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Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders. Am J Hum Genet. 2014 Aug 07; 95(2):173-82.
Score: 0.003
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6q22.1 microdeletion and susceptibility to pediatric epilepsy. Eur J Hum Genet. 2015 Feb; 23(2):173-9.
Score: 0.003
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Delineation of candidate genes responsible for structural brain abnormalities in patients with terminal deletions of chromosome 6q27. Eur J Hum Genet. 2015 Jan; 23(1):54-60.
Score: 0.003
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Variable levels of tissue mosaicism can confound the interpretation of chromosomal microarray results from peripheral blood. Eur J Med Genet. 2014 May-Jun; 57(6):264-6.
Score: 0.003
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Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10,362 consecutive cases. Eur J Hum Genet. 2014 Aug; 22(8):969-78.
Score: 0.003
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Fusion of large-scale genomic knowledge and frequency data computationally prioritizes variants in epilepsy. PLoS Genet. 2013; 9(9):e1003797.
Score: 0.003
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Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing. Eur J Hum Genet. 2014 Jan; 22(1):79-87.
Score: 0.003
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Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles. Genome Res. 2013 Sep; 23(9):1383-94.
Score: 0.003
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NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits. Genome Res. 2013 Sep; 23(9):1395-409.
Score: 0.003
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De novo interstitial duplication of 15q11.2-q13.1 with complex maternal uniparental trisomy for the 15q11-q13 region in a patient with Prader-Willi syndrome. Am J Med Genet A. 2012 Oct; 158A(10):2557-63.
Score: 0.003
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A duplication CNV that conveys traits reciprocal to metabolic syndrome and protects against diet-induced obesity in mice and men. PLoS Genet. 2012; 8(5):e1002713.
Score: 0.003
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Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148. Hum Mol Genet. 2012 Aug 01; 21(15):3345-55.
Score: 0.003
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Prenatal chromosomal microarray analysis in a diagnostic laboratory; experience with >1000 cases and review of the literature. Prenat Diagn. 2012 Apr; 32(4):351-61.
Score: 0.003
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A male newborn with VACTERL association and Fanconi anemia with a FANCB deletion detected by array comparative genomic hybridization (aCGH). Am J Med Genet A. 2011 Dec; 155A(12):3071-4.
Score: 0.003
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Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements. Cell. 2011 Sep 16; 146(6):889-903.
Score: 0.003
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Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications. Hum Mol Genet. 2011 May 15; 20(10):1975-88.
Score: 0.003
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Detection of clinically relevant exonic copy-number changes by array CGH. Hum Mutat. 2010 Dec; 31(12):1326-42.
Score: 0.002
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Microarray-based comparative genomic hybridization using sex-matched reference DNA provides greater sensitivity for detection of sex chromosome imbalances than array-comparative genomic hybridization with sex-mismatched reference DNA. J Mol Diagn. 2009 May; 11(3):226-37.
Score: 0.002
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Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases. Prenat Diagn. 2009 Jan; 29(1):29-39.
Score: 0.002
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Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype. Am J Hum Genet. 2007 Apr; 80(4):633-49.
Score: 0.002
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Reduced penetrance of craniofacial anomalies as a function of deletion size and genetic background in a chromosome engineered partial mouse model for Smith-Magenis syndrome. Hum Mol Genet. 2004 Nov 01; 13(21):2613-24.
Score: 0.002
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Modeling del(17)(p11.2p11.2) and dup(17)(p11.2p11.2) contiguous gene syndromes by chromosome engineering in mice: phenotypic consequences of gene dosage imbalance. Mol Cell Biol. 2003 May; 23(10):3646-55.
Score: 0.001
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Genetic proof of unequal meiotic crossovers in reciprocal deletion and duplication of 17p11.2. Am J Hum Genet. 2002 Nov; 71(5):1072-81.
Score: 0.001
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Structure and evolution of the Smith-Magenis syndrome repeat gene clusters, SMS-REPs. Genome Res. 2002 May; 12(5):729-38.
Score: 0.001