Prominent publications by Leslie G Biesecker

KOL Index score: 15051

Pluripotent hematopoietic stem cells (PHSCs) were highly enriched from mouse bone marrow by counterflow centrifugal elutriation, lineage subtraction, and fluorescence-activated cell sorting based on high c-kit receptor expression (c-kitBR). We used reverse transcriptase polymerase chain reaction to assay the c-kitBR subset and the subsets expressing low (c-kitDULL) and no (c-kitNEG) c-kit receptor for expression of mRNA encoding hematopoietic growth factor receptors and transcription ...

Also Ranks for: Stimulating Factor |  stem cells |  granulocyte colony |  gata2 transcription |  levels mrna
KOL Index score: 14302

Oculofaciocardiodental (OFCD) and Lenz microphthalmia syndromes form part of a spectrum of X-linked microphthalmia disorders characterized by ocular, dental, cardiac and skeletal anomalies and mental retardation. The two syndromes are allelic, caused by mutations in the BCL-6 corepressor gene (BCOR). To extend the series of phenotypes associated with pathogenic mutations in BCOR, we sequenced the BCOR gene in patients with (1) OFCD syndrome, (2) putative X-linked (‘Lenz’) microphthalmia ...

Also Ranks for: Lenz Microphthalmia |  ofcd syndrome |  bcor mutations |  laterality defects |  mental retardation
KOL Index score: 13656

Mutations in the GLI3 zinc-finger transcription factor gene cause Greig cephalopolysyndactyly syndrome (GCPS) and Pallister-Hall syndrome (PHS), which are variable but distinct clinical entities. We hypothesized that GLI3 mutations that predict a truncated functional repressor protein cause PHS and that functional haploinsufficiency of GLI3 causes GCPS. To test these hypotheses, we screened patients with PHS and GCPS for GLI3 mutations. The patient group consisted of 135 individuals: 89 ...

Also Ranks for: Phs Gcps |  gli3 mutations |  greig cephalopolysyndactyly |  hall syndrome |  transcription factors
KOL Index score: 13611

Pallister-Hall syndrome (PHS, M146510) was first described in 1980 in six newborns. It is a pleiotropic disorder of human development that comprises hypothalamic hamartoma, central polydactyly, and other malformations1,2. This disorder is inherited as an autosomal dominant trait and has been mapped to 7p13 (S. Kang et al. Autosomal dominant Pallister-Hall syndrome maps to 7p13. Am. J. Hum. Genet. 59, A81 (1996)). co-localizing the PHS locus and the GLI3 zinc finger transcription factor ...

Also Ranks for: Phs Gcps |  frameshift mutations |  autosomal dominant |  hall syndrome |  gli3 gene
KOL Index score: 12660

3-M syndrome, a primordial growth disorder, is associated with mutations in CUL7 and OBSL1. Exome sequencing now identifies mutations in CCDC8 as a cause of 3-M syndrome. CCDC8 is a widely expressed gene that is transcriptionally associated to CUL7 and OBSL1, and coimmunoprecipitation indicates a physical interaction between CCDC8 and OBSL1 but not CUL7. We propose that CUL7, OBSL1, and CCDC8 are members of a pathway controlling mammalian growth.

Also Ranks for: Ccdc8 Mutations |  cul7 obsl1 |  3m syndrome |  exome sequencing |  hypotonia mutation
KOL Index score: 12420

Phosphatidylinositol glycan class A (PIGA) is involved in the first step of glycosylphosphatidylinositol (GPI) biosynthesis. Many proteins, including CD55 and CD59, are anchored to the cell by GPI. Loss of CD55 and CD59 on erythrocytes causes complement-mediated lysis in paroxysmal nocturnal hemoglobinuria (PNH), a disease that manifests after clonal expansion of hematopoietic cells with somatic PIGA mutations. Although somatic PIGA mutations have been identified in many PNH patients, it ...

Also Ranks for: Germline Mutation |  paroxysmal nocturnal |  cd55 cd59 |  pnh piga |  gpi biosynthesis
KOL Index score: 12345

Pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED) are autosomal dominant osteochondrodysplasias that result in mild to severe short-limb dwarfism and early-onset osteoarthrosis. PSACH and some forms of MED result from mutations in the gene for cartilage oligomeric matrix protein (COMP; OMIM 600310 [http://www3.ncbi.nlm.]). We report the identification of COMP mutations in an additional 14 families with PSACH or MED phenotypes. ...

Also Ranks for: Matrix Protein |  cartilage oligomeric |  psach comp |  mutations gene |  multiple epiphyseal
KOL Index score: 11968

In clinical exome and genome sequencing, there is a potential for the recognition and reporting of incidental or secondary findings unrelated to the indication for ordering the sequencing but of medical value for patient care. The American College of Medical Genetics and Genomics (ACMG) recently published a policy statement on clinical sequencing that emphasized the importance of alerting the patient to the possibility of such results in pretest patient discussions, clinical testing, and ...

Also Ranks for: Clinical Exome |  genome sequencing |  incidental findings |  acmg recommendations |  policy statement
KOL Index score: 11722

Lenz microphthalmia is inherited in an X-linked recessive pattern and comprises microphthalmia, mental retardation, and skeletal and other anomalies. Two loci associated with this syndrome, MAA (microphthalmia with associated anomalies) and MAA2, are situated respectively at Xq27–q28 (refs. 1,2) and Xp11.4–p21.2 (ref. 3). We identified a substitution, nt 254C→T; P85L, in BCOR (encoding BCL-6-interacting corepressor, BCOR4) in affected males from the family with Lenz syndrome previously ...

Also Ranks for: Lenz Microphthalmia |  bcor bcl6 |  oculofaciocardiodental syndrome |  mental retardation |  congenital cataracts
KOL Index score: 11627

Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS or Ohdo syndrome) is a multiple anomaly syndrome characterized by severe intellectual disability, blepharophimosis, and a mask-like facial appearance. A number of individuals with SBBYSS also have thyroid abnormalities and cleft palate. The condition usually occurs sporadically and is therefore presumed to be due in most cases to new dominant mutations. In individuals with SBBYSS, a whole-exome sequencing approach was used to ...

Also Ranks for: Ohdo Syndrome |  histone acetyltransferase |  human pair |  mutations kat6b |  cleft palate
KOL Index score: 11578

Bardet-Biedl syndrome (BBS) is an autosomal recessive, genetically heterogeneous, pleiotropic human disorder characterized by obesity, retinopathy, polydactyly, renal and cardiac malformations, learning disabilities, and hypogenitalism. Eight BBS genes representing all known mapped loci have been identified. Mutation analysis of the known BBS genes in BBS patients indicate that additional BBS genes exist and/or that unidentified mutations exist in the known genes. To identify new BBS ...

Also Ranks for: Comparative Genomics |  gene expression |  biedl syndrome |  mutation analysis |  homozygosity mapping
KOL Index score: 11366

Evaluating the pathogenicity of a variant is challenging given the plethora of types of genetic evidence that laboratories consider. Deciding how to weigh each type of evidence is difficult, and standards have been needed. In 2015, the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) published guidelines for the assessment of variants in genes associated with Mendelian diseases. Nine molecular diagnostic laboratories involved in ...

Also Ranks for: Interpretation Guidelines |  sequence analysis |  clinical sequencing |  variants genes |  humans laboratories
KOL Index score: 11248

BACKGROUND: The American College of Medical Genetics and Genomics (ACMG)/Association for Molecular Pathology (AMP) clinical variant interpretation guidelines established criteria for different types of evidence. This includes the strong evidence codes PS3 and BS3 for "well-established" functional assays demonstrating a variant has abnormal or normal gene/protein function, respectively. However, they did not provide detailed guidance on how functional evidence should be evaluated, and ...

Also Ranks for: Variant Interpretation |  functional evidence |  medical genetics |  molecular pathology |  acmg association
KOL Index score: 10963

Chromosomal microarray (CMA) is increasingly utilized for genetic testing of individuals with unexplained developmental delay/intellectual disability (DD/ID), autism spectrum disorders (ASD), or multiple congenital anomalies (MCA). Performing CMA and G-banded karyotyping on every patient substantially increases the total cost of genetic testing. The International Standard Cytogenomic Array (ISCA) Consortium held two international workshops and conducted a literature review of 33 studies, ...

Also Ranks for: Chromosomal Microarray |  developmental disabilities |  diagnostic test |  asd mca |  gbanded karyotyping

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Leslie G Biesecker:Expert Impact

Concepts for whichLeslie G Bieseckerhas direct influence:Proteus syndrome,  Genome sequencing,  Exome sequencing,  Secondary findings,  Courtesy stigma.

Leslie G Biesecker:KOL impact

Concepts related to the work of other authors for whichfor which Leslie G Biesecker has influence:Genetic testing,  Exome sequencing,  Intellectual disability,  Proteus syndrome,  Incidental findings,  Precision medicine,  Prenatal diagnosis.



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Center for Precision Health Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA | Center for Precision Health Research, National Human Genome Research Institute, National Institutes of Health, Be