Research Topics
Genomes and Genes
| Leslie G BieseckerSummaryAffiliation: National Institutes of Health Country: USA Publications
| Collaborators
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Detail Information
Publications
The multifaceted challenges of Proteus syndromeL G Biesecker
National Human Genome Research Institute, Genetic Diseases Research Branch, National Institutes of Health, Bldg 49, Room 4A80, Bethesda, MD 20892 4472, USA
JAMA 285:2240-3. 2001..Herein, the case of a 5-year-old patient who manifested a number of these complications is presented. Current knowledge about the diagnosis, natural history, etiology, and management of the disorder is reviewed...- Clinical quiz. D Proteus syndromeJoseph F Fitzgerald
Department of Pediatric Gastroenterology and Nutrition, Children's National Medical Center, George Washington University, Washington, DC, USA
J Pediatr Gastroenterol Nutr 37:71, 90. 2003 
Acinar cell apoptosis in Serpini2-deficient mice models pancreatic insufficiencyStacie K Loftus
Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA
PLoS Genet 1:e38. 2005....- Zoom-in comparative genomic hybridisation arrays for the characterisation of variable breakpoint contiguous gene syndromesJennifer J Johnston
J Med Genet 44:e59. 2007..We suggest that high-density CGH array analysis should replace FISH analysis for assessment of deletions and duplications in patients with contiguous gene syndromes caused by variable deletions... 
The clinical atlas of Greig cephalopolysyndactyly syndromeKatherine Balk
National Institute of Nursing Research, National Institutes of Health, Bethesda, Maryland 20892 4472, USA
Am J Med Genet A 146:548-57. 2008..This article presents the spectrum of dysmorphic findings in GCPS highlighting some of its key presenting features to familiarize clinicians with the variable expressivity of the condition...- Incidental variants are critical for genomicsLeslie G Biesecker
National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA Electronic address
Am J Hum Genet 92:648-51. 2013..As a field, we should take full advantage of all opportunities to study these variants by searching them out, returning them to patients and research participants, and studying their utility for predictive medicine... - Opportunities and challenges for the integration of massively parallel genomic sequencing into clinical practice: lessons from the ClinSeq projectLeslie G Biesecker
Genetic Disease Research Branch and National Institutes of Health Intramural Sequencing Center, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA
Genet Med 14:393-8. 2012..The main lesson learned is that a genome sequence may be better considered as a health-care resource, rather than a test, one that can be interpreted and used over the lifetime of the patient... - Exome sequencing: the expert viewLeslie G Biesecker
Genetic Disease Research Branch and NIH Intramural Sequencing Center, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
Genome Biol 12:128. 2011..b>Leslie G Biesecker (LGB), Jim C Mullikin (JM) and Kevin V Shianna (KVS) discuss the reasons for the popularity of exome .. - Brain tissue- and region-specific abnormalities on volumetric MRI scans in 21 patients with Bardet-Biedl syndrome (BBS)Kim M Keppler-Noreuil
Department of Pediatrics, Division of Medical Genetics, The University of Iowa Children s Hospital, Iowa City, IA 52242, USA
BMC Med Genet 12:101. 2011..The present study represents the largest systematic evaluation for the presence of structural brain malformations and/or progressive changes, which may contribute to these functional problems... - Association of a de novo 16q copy number variant with a phenotype that overlaps with Lenz microphthalmia and Townes-Brocks syndromesTanya M Bardakjian
Clinical Genetics, Department of Pediatrics, Albert Einstein Medical Center, Philadelphia, PA, USA
BMC Med Genet 10:137. 2009..Townes-Brocks syndrome manifests thumb anomalies, imperforate anus, and ear anomalies. We present a 13-year-old boy with a syndromic microphthalmia phenotype and a clinical diagnosis of Lenz microphthalmia syndrome... - Clinical differentiation between Proteus syndrome and hemihyperplasia: description of a distinct form of hemihyperplasiaL G Biesecker
Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892 4472, USA
Am J Med Genet 79:311-8. 1998..quot; A distinct subtype of hemihyperplasia is defined that includes static or mildly progressive hemihyperplasia and multiple lipomata... - Mapping phenotypes to language: a proposal to organize and standardize the clinical descriptions of malformationsL G Biesecker
National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
Clin Genet 68:320-6. 2005..Lastly, a specific proposal for a system of clinical analysis and archiving of data on human pleiotropic developmental anomaly syndromes is proposed to address these limitations... - The end of the beginning of chromosome endsLeslie G Biesecker
National Human Genome Research Institute/National Institutes of Health, Genetic Diseases Research Branch, Bethesda, Maryland 20892-4472, USA
Am J Med Genet 107:263-6. 2002 - What you can learn from one gene: GLI3L G Biesecker
National Human Genome Research Institute, 49 Convent Drive Room 4A80, Bethesda, MD 20892 4472, USA
J Med Genet 43:465-9. 2006..These topics are reviewed in turn, in the context of the clinical and biological data derived from patients with mutations in GLI3 and experimental work in model systems... - The challenges of Proteus syndrome: diagnosis and managementLeslie Biesecker
National Human Genome Research Institute, Building 49 Room 4A80, Bethesda, MD 20892, USA
Eur J Hum Genet 14:1151-7. 2006..Effective management requires knowledge of the wide array of manifestations and complications of the disorder and a team approach that includes the geneticist, surgeons, and other specialists... - Polydactyly: how many disorders and how many genes?Leslie G Biesecker
National Institutes of Health, National Human Genome Research Institute, Bethesda, Maryland 20892, USA
Am J Med Genet 112:279-83. 2002..These issues highlight the need for a diagnostic system that catalogs both genotype and phenotype. Published 2002 Wiley-Liss, Inc... - The ClinSeq Project: piloting large-scale genome sequencing for research in genomic medicineLeslie G Biesecker
National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
Genome Res 19:1665-74. 2009..The early experiences with ClinSeq illustrate how large-scale medical sequencing can be a practical, productive, and critical component of research in genomic medicine... - Elements of morphology: standard terminology for the hands and feetLeslie G Biesecker
National Human Genome Research Institute, NIH, Bethesda, Maryland 20892 4472, USA
Am J Med Genet A 149:93-127. 2009..Here we introduce the anatomy of the hands and feet and define and illustrate the terms that describe the major characteristics of the hands and feet... - Polydactyly: how many disorders and how many genes? 2010 updateLeslie G Biesecker
Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA
Dev Dyn 240:931-42. 2011..These results show that knowledge of limb patterning genetics is improving rapidly. Soon, we will have a comprehensive toolkit of genes important for limb development, which will lead to regenerative therapies for limb anomalies... - A maneuver to assess the presence of metacarpal or metatarsal osseous syndactyly: a physical finding useful for the differential diagnosis of polydactylyLeslie G Biesecker
National Institutes of Health, National Human Genome Research Institute, Bethesda, Maryland 20892-4472, USA
Am J Med Genet A 143:1788-9. 2007 - An introduction to standardized clinical nomenclature for dysmorphic features: the Elements of Morphology projectLeslie G Biesecker
Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
BMC Med 8:56. 2010..Here, the background to the project, progress to date, and the practical implementation of the terminology in research reporting is discussed... - Heritable syndromes with hypothalamic hamartoma and seizures: using rare syndromes to understand more common disordersLeslie G Biesecker
National Institute of Health, National Human Genome Research Institute, Bethesda, MD 20892 4472, USA
Epileptic Disord 5:235-8. 2003..Several disorders that include hypothalamic hamartomas are reviewed here and the current understanding of the biology of the lesions is summarized... - The Greig cephalopolysyndactyly syndromeLeslie G Biesecker
Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
Orphanet J Rare Dis 3:10. 2008.... - Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutationsJennifer J Johnston
National Institutes of Health, National Human Genome Research Institute, Bethesda, MD 20892 4472, USA
Am J Hum Genet 76:609-22. 2005..These results demonstrate a robust correlation of genotype and phenotype for GLI3 mutations and strongly support the hypothesis that these two allelic disorders have distinct modes of pathogenesis... - No evidence for triallelic inheritance of MKKS/BBS loci in Amish Mckusick-Kaufman syndromeTakaya Nakane
Genetic Diseases Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
Am J Med Genet A 138:32-4. 2005..We conclude that the "triallelic" model does not explain the incomplete penetrance of MKS... - Gonadal mosaicism in severe Pallister-Hall syndromeDavid Ng
Genetic Disease Research Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland 20892 4472, USA
Am J Med Genet A 124:296-302. 2004..Published 2003 Wiley-Liss, Inc... - Clinical and molecular delineation of the Greig cephalopolysyndactyly contiguous gene deletion syndrome and its distinction from acrocallosal syndromeJennifer J Johnston
National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
Am J Med Genet A 123:236-42. 2003..We conclude that patients with GCPS caused by large deletions that include GLI3 are likely to have cognitive deficits, and we hypothesize that this severe GCPS phenotype is caused by deletion of contiguous genes... - Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genesJennifer J Johnston
Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
Am J Hum Genet 91:97-108. 2012.... - A mosaic activating mutation in AKT1 associated with the Proteus syndromeMarjorie J Lindhurst
National Human Genome Research Institute, Bethesda, Maryland, USA
N Engl J Med 365:611-9. 2011..The Proteus syndrome is characterized by the overgrowth of skin, connective tissue, brain, and other tissues. It has been hypothesized that the syndrome is caused by somatic mosaicism for a mutation that is lethal in the nonmosaic state... - Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutationsJennifer J Johnston
Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892 4472, USA
Hum Mutat 31:1142-54. 2010..Individuals with features of either GCPS or PHS should be screened for mutations in GLI3 even if they do not fulfill clinical criteria... - A female with complete lack of Müllerian fusion, postaxial polydactyly, and tetralogy of fallot: genetic heterogeneity of McKusick-Kaufman syndrome or a unique syndrome?Anne M Slavotinek
Genetic Diseases Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
Am J Med Genet A 129:69-72. 2004..The dual midline fusion defects of tetralogy of Fallot and MA suggests that either this patient has a unique syndrome with a distinct genetic etiology or that she has a genetically heterogeneous or variant form of MKS... - Designation of the TARP syndrome and linkage to Xp11.23-q13.3 without samples from affected patientsKyle T Kurpinski
Genetic Diseases Research Branch, National Human Genome Research Institute/NIH, Building 49 Room 4C72, Bethesda, MD 20892-4472, USA
Am J Med Genet A 120:1-4. 2003..We have designated this locus as TARP. This locus was mapped without genotyping any affecteds and demonstrates that rare, lethal disorders can be evaluated by genetic linkage, even when no affected probands are available for study... - Mutations in MKKS cause Bardet-Biedl syndromeA M Slavotinek
Genetic Diseases Research Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA
Nat Genet 26:15-6. 2000..Both parents and the maternal grandfather were heterozygous for the deletions. Genotyping with markers from the MKKS region confirmed homozygosity at 20p12 in both affected individuals... - Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CAMarjorie J Lindhurst
The National Human Genome Research Institute, US National Institutes of Health, Bethesda, Maryland, USA
Nat Genet 44:928-33. 2012..Our findings characterize a distinct overgrowth syndrome, biochemically demonstrate activation of PI3K signaling and thereby identify a rational therapeutic target... - Correlation of rare coding variants in the gene encoding human glucokinase regulatory protein with phenotypic, cellular, and kinetic outcomesMatthew G Rees
National Human Genome Research Institute, NIH, Bethesda, Maryland 20892, USA
J Clin Invest 122:205-17. 2012..In sum, this study utilizes computational, cell biological, and biochemical methods to present a model for interpreting the clinical significance of rare genetic variants in common disease... - Hypothalamic hamartomas and seizures: distinct natural history of isolated and Pallister-Hall syndrome casesEilis A Boudreau
Clinical Epilepsy Section and EEG and Sleep Section, National Institute of Neurological Disorders and Stroke, Bethesda, Maryland 20892-1408, USA
Epilepsia 46:42-7. 2005..Patients with HH with or without seizures should be evaluated carefully for other clinical manifestations of PHS, particularly before surgery is considered... - Massively parallel sequencing of exons on the X chromosome identifies RBM10 as the gene that causes a syndromic form of cleft palateJennifer J Johnston
National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892 4472, USA
Am J Hum Genet 86:743-8. 2010..We conclude that massively parallel sequencing is useful to characterize large candidate linkage intervals and that it can be used successfully to allow identification of disease-causing gene mutations... - Approaches to informed consent for hypothesis-testing and hypothesis-generating clinical genomics researchFlavia M Facio
National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
BMC Med Genomics 5:45. 2012..Massively-parallel sequencing (MPS) technologies create challenges for informed consent of research participants given the enormous scale of the data and the wide range of potential results... - The phenotype of a germline mutation in PIGA: the gene somatically mutated in paroxysmal nocturnal hemoglobinuriaJennifer J Johnston
Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
Am J Hum Genet 90:295-300. 2012..We conclude that c.1234C>T in PIGA results in the lethal X-linked phenotype recognized in the reported family... - Recurrence risks for Bardet-Biedl syndrome: Implications of locus heterogeneityJulie C Sapp
National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA
Genet Med 12:623-7. 2010..The aim of this study was to derive locus-specific recurrence risk estimates for family members of a proband affected with Bardet-Biedl syndrome... - GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndromeS Kang
Laboratory of Genetic Disease Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892 4472, USA
Nat Genet 15:266-8. 1997..These data implicate mutations in GLI3 as the cause of autosomal dominant PHS, and suggest that frameshift mutations of the GLI3 transcription factor gene can alter the development of multiple organ systems in vertebrates... - Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndromeD L Stone
Genetic Diseases Research Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA
Nat Genet 25:79-82. 2000..We believe that this is the first description of a human disorder caused by mutations affecting a putative chaperonin molecule... - Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCORDavid Ng
Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA
Nat Genet 36:411-6. 2004.... - Progressive overgrowth of the cerebriform connective tissue nevus in patients with Proteus syndromeThomas M Beachkofsky
Department of Dermatology, Uniformed Services University of the Health Sciences, Bethesda, Maryland 20814, USA
J Am Acad Dermatol 63:799-804. 2010..Proteus syndrome is a rare overgrowth disorder that almost always affects the skin... - Knockout of Slc25a19 causes mitochondrial thiamine pyrophosphate depletion, embryonic lethality, CNS malformations, and anemiaMarjorie J Lindhurst
National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
Proc Natl Acad Sci U S A 103:15927-32. 2006.... - Genetic and physical mapping of the McKusick-Kaufman syndromeD L Stone
Laboratory of Genetic Disease Research, Laboratory of Gene Transfer and Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA
Hum Mol Genet 7:475-81. 1998..Sequencing of jagged1 in two unrelated individuals affected with McKusick-Kaufman syndrome has not revealed any disease-causing mutations... - Psychiatric and neuropsychological characterization of Pallister-Hall syndromeA Azzam
National Institute of Mental Health, National Institutes of Health, Bethesda, MD, USA
Clin Genet 67:87-92. 2005..This limitation is inherent to the study of behavioral phenotypes in rare disorders. The general issue of psychiatric evaluation of rare genetic syndromes is discussed in light of this negative result... - Newly delineated syndrome of congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE syndrome) in seven patientsJulie C Sapp
National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA
Am J Med Genet A 143:2944-58. 2007..In contrast to the bony distortion so characteristic of Proteus syndrome, distortion in CLOVE syndrome occurs only following major or radical surgery. Here, we contrast differences and similarities of CLOVE syndrome to Proteus syndrome... - Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the EVC geneHakan Ulucan
Genetic Disease Research Branch, National Human Genome Research Institute, NIH, Bethesda, MD, USA
BMC Med Genet 9:92. 2008..The phenotype was inherited in an autosomal recessive pattern, with one instance of pseudodominant inheritance... - The pleiotropic mouse phenotype extra-toes spotting is caused by translation initiation factor Eif3c mutations and is associated with disrupted sonic hedgehog signalingDerek E Gildea
Institute for Biomedical Sciences, George Washington University, Washington, District of Columbia, USA
FASEB J 25:1596-605. 2011.... - Intentions to receive individual results from whole-genome sequencing among participants in the ClinSeq studyFlavia M Facio
Social and Behavioral Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
Eur J Hum Genet 21:261-5. 2013..It behooves investigators to facilitate participants' desire to learn a range of information from genomic sequencing while promoting realistic expectations for its clinical and personal utility... - Validation of My Family Health Portrait for six common heritable conditionsFlavia M Facio
National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
Genet Med 12:370-5. 2010..To assess the ability of My Family Health Portrait to accurately collect family history for six common heritable disorders... - Coupling genomics and human genetics to delineate basic mechanisms of developmentLeslie G Biesecker
National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
Genet Med 4:39S-42S. 2002.... - VarSifter: visualizing and analyzing exome-scale sequence variation data on a desktop computerJamie K Teer
National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
Bioinformatics 28:599-600. 2012..Availability and Implementation: VarSifter is written in Java, and is freely available in source and binary versions, along with a User Guide, at http://research.nhgri.nih.gov/software/VarSifter/... - Systematic comparison of three genomic enrichment methods for massively parallel DNA sequencingJamie K Teer
National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
Genome Res 20:1420-31. 2010..We find that these three genomic enrichment methods are highly accurate and practical, with sensitivities comparable to that of 30-fold coverage whole-genome shotgun data... - Genetic heterogeneity of syndromic X-linked recessive microphthalmia-anophthalmia: is Lenz microphthalmia a single disorder?David Ng
Medical Genetics Branch, NHGRI, National Institutes of Health, Bethesda, Maryland 20892 4472, USA
Am J Med Genet 110:308-14. 2002..In addition, it suggests that Lenz microphthalmia syndrome, previously thought to be a single disorder, may represent an amalgam of two distinct disorders... - Patients with Bardet-Biedl syndrome have hyperleptinemia suggestive of leptin resistancePenelope P Feuillan
Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892 4472, USA
J Clin Endocrinol Metab 96:E528-35. 2011..To study the pathophysiology of obesity in BBS, we compared patients with BBS and body mass index Z-score (BMI-Z)-matched controls... - Evolution of skin lesions in Proteus syndromeJames V Twede
Department of Dermatology, Uniformed Services University of the Health Sciences, Bethesda, Maryland 20814, USA
J Am Acad Dermatol 52:834-8. 2005..CONCLUSION: Skin lesions of Proteus syndrome may not appear until later infancy or early childhood, making it difficult to diagnose in young children... - Medical genetic studies in the Amish: historical perspectiveClair A Francomano
Laboratory of Genetics, National Institute on Aging/NIH, 333 Cassell Drive, Suite 3000, Baltimore, MD 21224, USA
Am J Med Genet C Semin Med Genet 121:1-4. 2003 - Ethical and practical guidelines for reporting genetic research results to study participants: updated guidelines from a National Heart, Lung, and Blood Institute working groupRichard R Fabsitz
Division of Cardiovascular Sciences, National Heart, Lung, and Blood Institute, Epidemiology Branch, 6701 Rockledge Drive MSC 7935, Bethesda, MD20892, USA
Circ Cardiovasc Genet 3:574-80. 2010.... - Mutation analysis of the MKKS gene in McKusick-Kaufman syndrome and selected Bardet-Biedl syndrome patientsA M Slavotinek
National Human Genome Research Institute, National Institutes of Health, Bldg 49 Room 4B75, 49 Convent Drive, Bethesda, MD 20895, USA
Hum Genet 110:561-7. 2002..The frequency of detected mutations in MKKS in Group II patients was 24%, i.e., six times higher than the published rate for unselected BBS patients, suggesting that small-scale linkage analyses may be useful in suitable families... - Scanning for telomeric deletions and duplications and uniparental disomy using genetic markers in 120 children with malformationsM J Rosenberg
National Human Genome Research Institute, Genetic Disease Research Branch, 49 Convent Drive, Bethesda, MD 20892, USA
Hum Genet 109:311-8. 2001..Given a detection rate that is similar to prior studies and the large workload imposed by STRPs, we conclude that STRPs are an effective, but impractical, approach to the determination of segmental aneusomy given current technology... - Unfolding the role of chaperones and chaperonins in human diseaseA M Slavotinek
Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892 4472, USA
Trends Genet 17:528-35. 2001.... - Evidence for decreased growth hormone in patients with hypothalamic hamartoma due to Pallister-Hall syndromeP Feuillan
Developmental Endocrinology Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA
J Pediatr Endocrinol Metab 14:141-9. 2001..We conclude that decreased pituitary GH secretion is common in PHS, and may exist in the absence of other forms of endocrine dysfunction... - Gene structure and allelic expression assay of the human GLI3 geneS Kang
Laboratory of Genetic Disease Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892 4472, USA
Hum Genet 101:154-7. 1997..Such hypotheses will be more readily addressed with the availability of the fine structure of the gene and the allele-expression assay... - A novel nemaline myopathy in the Amish caused by a mutation in troponin T1J J Johnston
Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA
Am J Hum Genet 67:814-21. 2000..We conclude that Amish nemaline myopathy is a distinct, heritable, myopathic disorder caused by a mutation in TNNT1... - Towards a complete North American Anabaptist genealogy: A systematic approach to merging partially overlapping genealogy resourcesR Agarwala
Inherited Diseases Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892 4472, USA
Am J Med Genet 86:156-61. 1999..Am. J. Med. Genet. 86:156-161, 1999. Published 1999 Wiley-Liss, Inc... - Phenotypic overlap of McKusick-Kaufman syndrome with bardet-biedl syndrome: a literature reviewA M Slavotinek
National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland 20892, USA
Am J Med Genet 95:208-15. 2000..We conclude that sporadic female infants with HMC and PAP cannot be diagnosed with MKS until at least age 5 years and that monitoring for the complications of BBS should be performed in these patients... - Cognitive deficits in children with gelastic seizures and hypothalamic hamartomaC M Frattali
Speech Language Pathology Section, Rehabilitation Medicine Department, W G Magnuson Clinical Center, National Institutes of Health, Bethesda, MD 20892 1604, USA
Neurology 57:43-6. 2001..To characterize the cognitive deficits in children with gelastic seizures and hypothalamic hamartoma and investigate the relationship of seizure severity to cognitive abilities... - Massively-parallel sequencing of genes on a single chromosome: a comparison of solution hybrid selection and flow sortingJamie K Teer
National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
BMC Genomics 14:253. 2013..It is important to understand the advantages, limitations, and complexity of a given capture method before embarking on a targeted sequencing experiment... - Cowchock syndrome is associated with a mutation in apoptosis-inducing factorCarlo Rinaldi
Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892 3705, USA
Am J Hum Genet 91:1095-102. 2012..Our findings expand the spectrum of AIF-related disease and provide insight into the effects of AIFM1 mutations... - Anabaptist genealogy databaseRicha Agarwala
National Center for Biotechnology Information/NIH, Building 38A, 8600 Rockville Pike, Bethesda, MD 20894, USA
Am J Med Genet C Semin Med Genet 121:32-7. 2003..Thus, it is an opportune time to review the construction of AGDB, summarize its usage to date, and speculate on future projects it might stimulate and facilitate... - Reassessment of the Proteus syndrome literature: application of diagnostic criteria to published casesJoyce T Turner
Genetic Diseases Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
Am J Med Genet A 130:111-22. 2004..This article contains supplementary material, which may be viewed at the American Journal of Medical Genetics website at http://www.interscience.wiley.com/jpages/0148-7299/suppmat/index.html... - Hedgehog signaling regulates sensory cell formation and auditory function in mice and humansElizabeth Carroll Driver
Section on Developmental Neuroscience, National Institute on Deafness and Other Communication Disorders, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
J Neurosci 28:7350-8. 2008..These results suggest that HH signaling plays a key role in the specification, size, and location of the prosensory domain, and therefore of hair cells, within the cochlea... - Cutaneous manifestations of proteus syndrome: correlations with general clinical severityDiem Nguyen
Department of Dermatology, Uniformed Services University of the Health Sciences, Bethesda, MD 20814, USA
Arch Dermatol 140:947-53. 2004..The correlation between numbers of cutaneous and extracutaneous is consistent with the postulated mosaic basis for this syndrome... - A candidate gene for autoimmune myasthenia gravisGuida Landoure
Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA
Neurology 79:342-7. 2012..We sought to identify a causative mutation in a previously reported kindred with parental consanguinity and 5 of 10 siblings with adult-onset autoimmune myasthenia gravis... - Motivators for participation in a whole-genome sequencing study: implications for translational genomics researchFlavia M Facio
National Human Genome Research Institute, National Institutes of Health, 10 Center Drive, Bethesda, MD 20892, USA
Eur J Hum Genet 19:1213-7. 2011.... - Mutant deoxynucleotide carrier is associated with congenital microcephalyMarjorie J Rosenberg
National Human Genome Research Institute, National Institutes of Health, 49 Convent Drive, Bethesda, Maryland 20892 4472, USA
Nat Genet 32:175-9. 2002..Our data indicate that mitochondrial deoxynucleotide transport may be essential for prenatal brain growth... - GLI3 mutations in human disorders mimic Drosophila cubitus interruptus protein functions and localizationS H Shin
National Institutes of Health, National Human Genome Research Institute, Genetic Disease Research Branch, Bethesda, MD 20892, USA
Proc Natl Acad Sci U S A 96:2880-4. 1999..These data show that GLI3 mutations in humans mimic functional effects of the Drosophila ci gene and correlate with the distinct effects of these mutations on human development... - Next-generation sequencing in the clinic: are we ready?Leslie G Biesecker
Genetic Disease Research Branch, National Human Genome Research Institute, 49 Convent Drive, Room 4A56, Bethesda, Maryland 20892, USA
Nat Rev Genet 13:818-24. 2012..Here, we ask five experts to give their opinions on whether clinical data should be treated differently from other medical data, given the potential use of these tests, and on the areas that must be developed to improve patient outcome... - Assessment and management of the orthopedic and other complications of Proteus syndromeLaura L Tosi
Division of Orthopaedic Surgery and Sports Medicine, Children s National Medical Center, 111 Michigan Avenue, NW, Washington, DC 20010 USA Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD USA
J Child Orthop 5:319-27. 2011..While PS poses many complex challenges, the focus of the workshop was the management of the asymmetric and disorganized skeletal overgrowth that characterizes this multisystem disorder... - FOS expression in blood as a LDL-independent marker of statin treatmentJu Gyeong Kang
Translational Medicine Branch, Cardiology Section National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA
Atherosclerosis 212:567-70. 2010..In this pilot study, we hypothesized that blood FOS mRNA levels will be sensitive to statin treatment independent of LDL cholesterol levels... - Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduriaJennifer L Sloan
Genetics and Molecular Biology Branch, National Human Genome Research Institute, US National Institutes of Health, Bethesda, Maryland, USA
Nat Genet 43:883-6. 2011.... - Parental attitudes toward a diagnosis in children with unidentified multiple congenital anomaly syndromesE T Rosenthal
Medical Genetic Branch, NHGRI NIH, Bethesda, MD, USA
Am J Med Genet 103:106-14. 2001..Providers should explore the underlying issues associated with a parental quest for a diagnosis in order to identify and address specific concerns. Published 2001 Wiley-Liss, Inc... - Identification of a mutation in liver glycogen phosphorylase in glycogen storage disease type VIS Chang
Laboratory of Genetic Disease Research and Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
Hum Mol Genet 7:865-70. 1998.... - Identification of alternative exons, including a novel exon, in the tyrosine kinase receptor gene Etk2/tyro3 that explain differences in 5' cDNA sequencesL G Biesecker
National Institutes of Health, National Center for Human Genome Research, Bethesda, Maryland 20892, USA
Oncogene 10:2239-42. 1995..The existence of these multiple isoforms may be important for protein processing, translocation, or function... - Radiologic manifestations of Proteus syndromeCarlos A Jamis-Dow
Department of Radiology, Georgetown University Hospital, Washington, DC, USA
Radiographics 24:1051-68. 2004..Although the manifestations of Proteus syndrome are highly variable, accurate diagnosis is possible if standard diagnostic criteria are followed and if disease features are assessed in comparison with those found in similar syndromes... - Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1)Kirk Mykytyn
Department of Pediatrics, Division of Medical Genetics, and Howard Hughes Medical Institute, University of Iowa, Iowa City, IA, 52242, USA
Am J Hum Genet 72:429-37. 2003..We show that the BBS1 gene is highly conserved between mice and humans. Finally, we demonstrate that BBS1 is inherited in an autosomal recessive manner and is rarely, if ever, involved in complex inheritance... - Genetic modifiers in human development and malformation syndromes, including chaperone proteinsAnne Slavotinek
Department of Pediatrics, Division of Genetics, Room U585P, UCSF, 533 Parnassus St, San Francisco, CA, USA
Hum Mol Genet 12:R45-50. 2003.... - Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome geneDarryl Y Nishimura
Department of Pediatrics, University of Iowa, Iowa City, IA 52242, USA
Am J Hum Genet 77:1021-33. 2005..This type of mutation is likely to be underreported because of the difficulty of deletion detection in the heterozygous state by the mutation screening methods that are used in many studies... - Left-sided embryonic expression of the BCL-6 corepressor, BCOR, is required for vertebrate laterality determinationEmma N Hilton
Academic Unit of Medical Genetics and Regional Genetic Service, St Mary s Hospital, Manchester, UK
Hum Mol Genet 16:1773-82. 2007..Expression of xtPitx2c was shown to be downregulated when xtBcor was depleted. This identifies a pathway in which xtBcor is required for lateral specification, a process intrinsically linked to correct cardiac septal development... - Human genetic disease caused by de novo mitochondrial-nuclear DNA transferClesson Turner
Uniformed Services University of the Health Sciences and Walter Reed Army Medical Center, Washington, DC 20814, USA
Hum Genet 112:303-9. 2003..Thus, for the time being, it must be considered as an intriguing coincidence. Nevertheless, these data serve to demonstrate that de novo mitochondrial-nuclear transfer of nucleic acid is a novel mechanism of human inherited disease... - Proteus syndrome: misdiagnosis with PTEN mutationsM Michael Cohen
Am J Med Genet A 122:323-4. 2003 - Response to "chromosome bands and ends (revisited)"Leslie G Biesecker
Am J Med Genet A 120:445. 2003 - Phenotype mattersLeslie G Biesecker
Nat Genet 36:323-4. 2004 - Epidemiology. DNA identifications after the 9/11 World Trade Center attackLeslie G Biesecker
Science 310:1122-3. 2005.... - Morphological characterization of the breast in Proteus syndrome complicated by ductal carcinoma in situJabed Iqbal
North Shore University Hospital, NYU School of Medicine, Manhasset, NY, USA
Ann Clin Lab Sci 36:469-74. 2006..This case highlights the difficulty of recognizing small foci of carcinoma in an asymmetrical overgrowth of the breast in a young woman with PS... - Principles for the surgical management of patients with Proteus syndrome and patients with overgrowth not meeting Proteus criteriaMatthew Lublin
Surgery Branch, National Cancer Institute, Genetic Diseases Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
J Pediatr Surg 37:1013-20. 2002..All patients undergoing surgery should have a thorough preoperative assessment of their airway and pulmonary reserve because of the relatively high frequency of tonsillar hypertrophy and pulmonary cystic involvement... - Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE) syndrome: CNS malformations and seizures may be a component of this disorderZoran S Gucev
Medical Faculty Skopje, Skopje, Macedonia
Am J Med Genet A 146:2688-90. 2008..We conclude that CNS manifestations including hemimegalencephaly, dysgenesis of the corpus callosum, neuronal migration defects, and the consequent seizures, may be an rarely recognized manifestation of CLOVE syndrome...