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Leslie Biesecker

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Leslie G Biesecker
Incidental variants are critical for genomics.
Leslie G Biesecker; Nancy B Spinner
A genomic view of mosaicism and human disease.
Yvette P Conley; Stephen Gonsalves; Maggie Kirk; Carrie J Merkle; Leslie G Biesecker; Bradley E Aouizerat
Current and emerging technology approaches in genomics.

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All Publications

2013: Leslie G Biesecker
Incidental variants are critical for genomics.
American journal of human genetics 2013;92(5):648-51.
2013: Leslie G Biesecker; Nancy B Spinner
A genomic view of mosaicism and human disease.
Nature reviews. Genetics 2013;14(5):307-20.
2013: Yvette P Conley; Stephen Gonsalves; Maggie Kirk; Carrie J Merkle; Leslie G Biesecker; Bradley E Aouizerat
Current and emerging technology approaches in genomics.
Journal of nursing scholarship : an official publication of Sigma Theta Tau International Honor Society of Nursing / Sigma Theta Tau 2013;45(1):5-14.
2013: Flavia M Facio; Tyler Fisher; Kimberly A Kaphingst; Amy Linn; Leslie G Biesecker; Stephanie Brooks; Haley Eidem; Barbara Bowles Biesecker
Intentions to receive individual results from whole-genome sequencing among participants in the ClinSeq study.
European journal of human genetics : EJHG 2013;21(3):261-5.
2013: Santhosh Girirajan; Maika Malig; Kenneth Mark; Tiffany H Vu; Can Alkan; Carl Baker; Raphael Bernier; Leslie G Biesecker; Catarina D Campbell; Ze Cheng; Bradley P Coe; Megan Y Dennis; Evan E Eichler
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
American journal of human genetics 2013;92(2):221-37.
2013: Leslie G Biesecker
Secondary variants and human subjects research.
Genetics in medicine : official journal of the American College of Medical Genetics 2013;15(2):157.
2013: Jamie K Teer; Sarah L Anzick; jennifer johnston; Paul S Meltzer; James C Mullikin; Marbin Pineda; Gary Stone; Leslie G Biesecker
Massively-parallel sequencing of genes on a single chromosome: a comparison of solution hybrid selection and flow sorting.
BMC genomics 2013;14(1):253.
2013: Leslie G Biesecker
The Nirvana fallacy and the return of results.
The American journal of bioethics : AJOB 2013;13(2):43-4.
2013: Aimée Vester; Stephan Zuchner; Asim Beg; Leslie G Biesecker; Kenneth H Fischbeck; James R Lupski; Heather M McLaughlin; Garth Nicholson; Ricardo H Roda; Kevin Talbot; Jeffery Vance; Gisselle Velez-Ruiz; Anthony Antonellis
A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivo.
Human mutation 2013;34(1):191-9.
2012: Carlo Rinaldi; Alice Schindler; Irina F Sevrioukova; Massimo Zeviani; Leslie G Biesecker; Carsten Bönnemann; Barrington G Burnett; Daniele Ghezzi; Christopher Grunseich; Iren Horkayne-Szakaly; Marina L Kennerson; Costanza Lamperti; Guida Landouré; Kenneth H Fischbeck
Cowchock syndrome is associated with a mutation in apoptosis-inducing factor.
American journal of human genetics 2012;91(6):1095-102.
2012: Leslie G Biesecker
The new world of clinical genomics.
The Journal of clinical endocrinology and metabolism 2012;97(11):3912-4.
2012: Leslie G Biesecker; Wylie Burke; Isaac Kohane; Sharon E Plon; Ron Zimmern
Next-generation sequencing in the clinic: are we ready?
Nature reviews. Genetics 2012;13(11):818-24.
2012: Marjorie J Lindhurst; Stephen O'Rahilly; Victoria E R Parker; Felicity Payne; Simon Rudge; Julie C Sapp; David B Savage; Carol E Scott; Inês Barroso; Leslie G Biesecker; Michael L Cunningham; Allan Daly; Thomas N Darling; Adrian K Dixon; Joseph Geer; Matthijs P Groeneveld; Zoran Gucev; Julie Harris; Timothy Helliwell; Susan M Huson; V Reid Sutton; Laura L Tosi; Christos Tziotzios; Michael J O Wakelam; Alison M Witkowski; Qifeng Zhang; Robert K Semple
Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA.
Nature genetics 2012;44(8):928-33.
2012: Guida Landouré; Carlo Rinaldi; Yijun Shi; Horia Stanescu; Addis A Taye; Bryan Joseph Traynor; Angela Vincent; Nick Willcox; Oumarou Diallo; Abdel Elkahloun; Kenneth H Fischbeck; Dena Hernandez; Janel O Johnson; Robert Kleta; Melanie A Knight; Leslie G Biesecker; Barrington Burnett
A candidate gene for autoimmune myasthenia gravis.
Neurology 2012;79(4):342-7.
2012: jennifer johnston; James C Mullikin; David Ng; Wendy S Rubinstein; Larry N Singh; Jamie K Teer; Flavia M Facio; Leslie G Biesecker
Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes.
American journal of human genetics 2012;91(1):97-108.
2012: Raoul C M Hennekam; Leslie G Biesecker
Next-generation sequencing demands next-generation phenotyping.
Human mutation 2012;33(5):884-6.
2012: Robert C Green; Wayne W Grody; Madhuri R Hegde; Jonathan S Berg; Gerard T Berry; Leslie G Biesecker; David P Dimmock; James P Evans; Sarah Kalia; Bruce R Korf; Ian Krantz; Amy L McGuire; David T Miller; Michael F Murray; Robert L Nussbaum; Sharon E Plon; Heidi L Rehm; Howard J Jacob
Exploring concordance and discordance for return of incidental findings from clinical sequencing.
Genetics in medicine : official journal of the American College of Medical Genetics 2012;14(4):405-10.
2012: Leslie G Biesecker
Opportunities and challenges for the integration of massively parallel genomic sequencing into clinical practice: lessons from the ClinSeq project.
Genetics in medicine : official journal of the American College of Medical Genetics 2012;14(4):393-8.
2012: Jamie K Teer; Eric D Green; James C Mullikin; Leslie G Biesecker
VarSifter: visualizing and analyzing exome-scale sequence variation data on a desktop computer.
Bioinformatics (Oxford, England) 2012;28(4):599-600.
2012: jennifer johnston; Cyndi F Liu; Jodie M Martin; Julie C Sapp; Jamie K Teer; Zhaohui Ye; XUAN YUAN; Robert A Brodsky; Linzhao Cheng; Andrea Gropman; Leslie G Biesecker
The phenotype of a germline mutation in PIGA: the gene somatically mutated in paroxysmal nocturnal hemoglobinuria.
American journal of human genetics 2012;90(2):295-300.
2012: Sara Chandros Hull; Leslie G Biesecker; Ben Chan; Benjamin E Berkman
Response to open peer commentaries on "Genomic inheritances: disclosing individual research results from whole-exome sequencing to deceased participants' relatives".
The American journal of bioethics : AJOB 2012;12(12):W9-10.
2012: Flavia M Facio; Amy Linn; Julie C Sapp; Leslie G Biesecker
Approaches to informed consent for hypothesis-testing and hypothesis-generating clinical genomics research.
BMC medical genomics 2012;5():45.
2012: Ben Chan; Haley Eidem; Flavia M Facio; Sara Chandros Hull; Leslie G Biesecker; Benjamin E Berkman
Genomic inheritances: disclosing individual research results from whole-exome sequencing to deceased participants' relatives.
The American journal of bioethics : AJOB 2012;12(10):1-8.
2011: Flavia M Facio; Susannah Green; Johanna Loewenstein; Leslie G Biesecker; Stephanie Brooks; Barbara Bowles Biesecker
Motivators for participation in a whole-genome sequencing study: implications for translational genomics research.
European journal of human genetics : EJHG 2011;19(12):1213-7.
2011: Laura L Tosi; Elizabeth S Allen; Regis J O'Keefe; Julie C Sapp; Leslie G Biesecker
Assessment and management of the orthopedic and other complications of Proteus syndrome.
Journal of children's orthopaedics 2011;5(5):319-27.
2011: Jennifer L Sloan; Justin R Sysol; Vassilli Valayannopoulos; Bruce A Barshop; Susan A Berry; Leslie G Biesecker; Nuria Carrillo-Carrasco; Neena L Champaigne; Randy J Chandler; Suma D Chandrasekaran; Pascale de Lonlay; Heidi Dorward; Dimitar K Gavrilov; Michael D Geschwind; Natalie S Hauser; Marjan Huizing; Philip M James; Jennifer J Johnston; Caitlin Krause; Irini Manoli; William L Nyhan; Kevin O'Brien; Julie C Sapp; Charles Venditti
Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria.
Nature genetics 2011;43(9):883-6.
2011: Garth Nicholson; Stephen W Reddel; Angela Scheuerle; Ericka Simpson; Charles F Towne; Michelle Yasick; Sat Dev Batish; Leslie G Biesecker; Randall Blouin; Carla Brandt; Giovanni Coppola; Cole J Ferguson; Adrienne E Grant; Stuart Hoffman; Guy M Lenk; Miriam H Meisler
Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P₂ phosphatase FIG4.
Brain : a journal of neurology 2011;134(Pt 7):1959-71.
2011: Emma M M Burkitt Wright; Kate Chandler; Jill Clayton-Smith; Marina Colombi; Sarah B Daly; Annabel Dodds; Cecilia Giunta; Naz Khan; Colm Madden; Forbes D C Manson; Meyyammai Mohan; Marianne Rohrbach; Helen L Spencer; Ioannis Tosounidis; Jill Urquhart; Meredith Wilson; Leo A H Zeef; Nicoletta Zoppi; Leon Au; Siddharth Banka; Leslie G Biesecker; Richard Bonshek; Graeme C M Black
Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance.
American journal of human genetics 2011;88(6):767-77.
2011: Leslie G Biesecker
Polydactyly: how many disorders and how many genes? 2010 update.
Developmental dynamics : an official publication of the American Association of Anatomists 2011;240(5):931-42.
2011: Derek E Gildea; Erin S Luetkemeier; Xiaozhong Bao; Stacie K Loftus; Susan Mackem; Yingzi Yang; william pavan; Leslie G Biesecker
The pleiotropic mouse phenotype extra-toes spotting is caused by translation initiation factor Eif3c mutations and is associated with disrupted sonic hedgehog signaling.
FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2011;25(5):1596-605.
2011: Penelope P Feuillan; David Ng; Joan C Han; Julie C Sapp; Katie Wetsch; Emma Spaulding; Yuqian C Zheng; Rafael C Caruso; Brian P Brooks; Jennifer J Johnston; Jack A Yanovski; Leslie G Biesecker
Patients with Bardet-Biedl syndrome have hyperleptinemia suggestive of leptin resistance.
The Journal of clinical endocrinology and metabolism 2011;96(3):E528-35.
2011: Leslie G Biesecker; Kevin V Shianna; James C Mullikin
Exome sequencing: the expert view.
Genome biology 2011;12(9):128.
2011: Kim M Keppler-Noreuil; Peggy C Nopoulos; Julie C Sapp; Catherine Blumhorst; Danielle Brinckman; Jennifer Johnston; Leslie G Biesecker
Brain tissue- and region-specific abnormalities on volumetric MRI scans in 21 patients with Bardet-Biedl syndrome (BBS).
BMC medical genetics 2011;12():101.
2010: Richard R Fabsitz; Amy McGuire; Richard R Sharp; Mona Puggal; Laura M Beskow; Leslie G Biesecker; Ebony Bookman; Wylie Burke; Esteban Gonzalez Burchard; George Church; Ellen Wright Clayton; John H Eckfeldt; Conrad V Fernandez; Rebecca Fisher; Stephanie M Fullerton; Stacey Gabriel; Francine Gachupin; Cynthia James; Gail P Jarvik; Rick Kittles; Jennifer R Leib; Christopher O'Donnell; P Pearl O'Rourke; Laura Lyman Rodriguez; Sheri D Schully; Alan R Shuldiner; Rebecca K F Sze; Joseph V Thakuria; Susan M Wolf; Gregory L Burke
Ethical and practical guidelines for reporting genetic research results to study participants: updated guidelines from a National Heart, Lung, and Blood Institute working group.
Circulation. Cardiovascular genetics 2010;3(6):574-80.
2010: Thomas M Beachkofsky; Julie C Sapp; Leslie G Biesecker; Thomas Darling
Progressive overgrowth of the cerebriform connective tissue nevus in patients with Proteus syndrome.
Journal of the American Academy of Dermatology 2010;63(5):799-804.
2010: Heather M McLaughlin; Reiko Sakaguchi; Cuiping Liu; Takao Igarashi; Davut Pehlivan; Kristine Chu; Ram Iyer; Pedro Cruz; Praveen F Cherukuri; Nancy F Hansen; James C Mullikin; Leslie G Biesecker; Thomas E Wilson; Victor Ionasescu; Garth Nicholson; Charles Searby; Kevin Talbot; Jeffery Vance; Stephan Zuchner; Kinga Szigeti; James R Lupski; Ya-Ming Hou; Eric D Green; Anthony Antonellis
Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy.
American journal of human genetics 2010;87(4):560-6.
2010: Julie C Sapp; Darryl Nishimura; jennifer johnston; Edwin M Stone; Elise Héon; Val C Sheffield; Leslie G Biesecker
Recurrence risks for Bardet-Biedl syndrome: Implications of locus heterogeneity.
Genetics in medicine : official journal of the American College of Medical Genetics 2010;12(10):623-7.
2010: Jamie K Teer; Lori L Bonnycastle; Peter S Chines; Nancy F Hansen; Natsuyo Aoyama; Amy J Swift; Hatice Ozel Abaan; Thomas J Albert; Elliott H Margulies; Eric Green; Francis S Collins; James C Mullikin; Leslie G Biesecker
Systematic comparison of three genomic enrichment methods for massively parallel DNA sequencing.
Genome research 2010;20(10):1420-31.
2010: Ju-Gyeong Kang; Ho Joong Sung; Sarah I Jawed; Cynthia L Brenneman; Yesoda N Rao; Salman Sher; Flavia M Facio; Leslie G Biesecker; Arshed A Quyyumi; Vandana Sachdev; PAUL HWANG
FOS expression in blood as a LDL-independent marker of statin treatment.
Atherosclerosis 2010;212(2):567-70.
2010: David Ng; Emma Spaulding; James C Mullikin; Leslie G Biesecker
Identification of a novel LDLR mutation (c.261_262invGA, p.Trp87X): Importance of specifying DNA and protein mutations.
Atherosclerosis 2010;211(2):397-8.
2010: Flavia M Facio; William G. Feero; Amy Linn; Neal Oden; Kandamurugu Manickam; Leslie G Biesecker
Validation of My Family Health Portrait for six common heritable conditions.
Genetics in medicine : official journal of the American College of Medical Genetics 2010;12(6):370-5.
2010: jennifer johnston; Jamie K Teer; Praveen F Cherukuri; Nancy F Hansen; Stacie K Loftus; Karen Chong; James C Mullikin; Leslie G Biesecker
Massively parallel sequencing of exons on the X chromosome identifies RBM10 as the gene that causes a syndromic form of cleft palate.
American journal of human genetics 2010;86(5):743-8.
2010: Leslie G Biesecker
An introduction to standardized clinical nomenclature for dysmorphic features: the Elements of Morphology project.
BMC medicine 2010;8():56.
2009: Leslie G Biesecker; James C Mullikin; Flavia M Facio; Clesson Turner; Praveen F Cherukuri; Robert W Blakesley; Gerald Bouffard; Peter S Chines; Pedro Cruz; Nancy F Hansen; Jamie K Teer; Baishali Maskeri; Alice C Young; Teri A Manolio; Alexander F Wilson; TOREN FINKEL; PAUL HWANG; Andrew Arai; Alan T Remaley; Vandana Sachdev; Robert Shamburek; Richard O Cannon; Eric Green
The ClinSeq Project: piloting large-scale genome sequencing for research in genomic medicine.
Genome research 2009;19(9):1665-74.
2009: Leslie G Biesecker
A silent majority?
American journal of medical genetics. Part A 2009;149A(8):1623.
2009: Leslie G Biesecker; Jon M Aase; Carol Clericuzio; Fiorella Gurrieri; I Karen Temple; Helga Toriello
Elements of morphology: standard terminology for the hands and feet.
American journal of medical genetics. Part A 2009;149A(1):93-127.
2008: Zoran S Gucev; Velibor Tasic; Aleksandra Jancevska; Marina Krstevska Konstantinova; Nada Pop-Jordanova; Zoran Trajkovski; Leslie G Biesecker
Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE) syndrome: CNS malformations and seizures may be a component of this disorder.
American journal of medical genetics. Part A 2008;146A(20):2688-90.
2008: Elizabeth Carroll Driver; Shannon P Pryor; Patrick Hill; Joyce Turner; Ulrich Rüther; Leslie G Biesecker; Andrew J Griffith; Matthew W Kelley
Hedgehog signaling regulates sensory cell formation and auditory function in mice and humans.
The Journal of neuroscience : the official journal of the Society for Neuroscience 2008;28(29):7350-8.
2008: Katherine Balk; Leslie G Biesecker
The clinical atlas of Greig cephalopolysyndactyly syndrome.
American journal of medical genetics. Part A 2008;146A(5):548-57.
2008: Hakan Ulucan; Davut Gül; Julie C Sapp; John Cockerham; jennifer johnston; Leslie G Biesecker
Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the EVC gene.
BMC medical genetics 2008;9():92.
2008: Leslie G Biesecker
The Greig cephalopolysyndactyly syndrome.
Orphanet journal of rare diseases 2008;3():10.
2007: Julie C Sapp; Joyce T Turner; Jiddeke M van de Kamp; Fleur van Dijk; R Brian Lowry; Leslie G Biesecker
Newly delineated syndrome of congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE syndrome) in seven patients.
American journal of medical genetics. Part A 2007;143A(24):2944-58.
2007: Joyce Turner; Barbara Bowles Biesecker; Jennifer Leib; Leslie G Biesecker; Kathryn F Peters
Parenting children with Proteus syndrome: experiences with, and adaptation to, courtesy stigma.
American journal of medical genetics. Part A 2007;143A(18):2089-97.
2007: Leslie G Biesecker
A maneuver to assess the presence of metacarpal or metatarsal osseous syndactyly: a physical finding useful for the differential diagnosis of polydactyly.
American journal of medical genetics. Part A 2007;143A(15):1788-9.
2007: Emma N Hilton; Forbes D C Manson; Jill E Urquhart; jennifer johnston; Anne M Slavotinek; Peter Hedera; Eva-Lena Stattin; Ann Nordgren; Leslie G Biesecker; Graeme C M Black
Left-sided embryonic expression of the BCL-6 corepressor, BCOR, is required for vertebrate laterality determination.
Human molecular genetics 2007;16(14):1773-82.
2007: jennifer johnston; Robert L Walker; Sean Davis; Flavia Facio; Joyce T Turner; David P Bick; Donna L Daentl; Jay W Ellison; Paul S Meltzer; Leslie G Biesecker
Zoom-in comparative genomic hybridisation arrays for the characterisation of variable breakpoint contiguous gene syndromes.
Journal of medical genetics 2007;44(1):e59.
2006: Shawn E Lipinski; Michael Lipinski; Leslie G Biesecker; Barbara B Biesecker
Uncertainty and perceived personal control among parents of children with rare chromosome conditions: the role of genetic counseling.
American journal of medical genetics. Part C, Seminars in medical genetics 2006;142C(4):232-40.
2006: Leslie G Biesecker
The challenges of Proteus syndrome: diagnosis and management.
European journal of human genetics : EJHG 2006;14(11):1151-7.
2006: Marjorie J Lindhurst; Giuseppe Fiermonte; Shiwei Song; Eduard Struys; Francesco De Leonardis; Pamela L Schwartzberg; Amy Chen; Alessandra Castegna; Nanda Verhoeven; Christopher K Mathews; Ferdinando Palmieri; Leslie G Biesecker
Knockout of Slc25a19 causes mitochondrial thiamine pyrophosphate depletion, embryonic lethality, CNS malformations, and anemia.
Proceedings of the National Academy of Sciences of the United States of America 2006;103(43):15927-32.
2006: Leslie G Biesecker
What you can learn from one gene: GLI3.
Journal of medical genetics 2006;43(6):465-9.
2006: Jabed Iqbal; Gary He; Leslie G Biesecker; Peter Rosen; Paul H Duray; Douglas J Schwartzentruber; Mansor Beg; Ellen Kahn
Morphological characterization of the breast in Proteus syndrome complicated by ductal carcinoma in situ.
Annals of clinical and laboratory science 2006;36(4):469-74.
2005: Darryl Y Nishimura; Ruth E Swiderski; Charles C Searby; Erik M Berg; Amanda L Ferguson; Raoul Hennekam; Saul Merin; Richard G Weleber; Leslie G Biesecker; Edwin M Stone; Val C Sheffield
Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene.
American journal of human genetics 2005;77(6):1021-33.
2005: Leslie G Biesecker; Joan E Bailey-Wilson; Jack Ballantyne; Howard Baum; Frederick R Bieber; Charles Brenner; Bruce Budowle; John M Butler; George Carmody; P Michael Conneally; Barry Duceman; Arthur Eisenberg; Lisa Forman; Kenneth K Kidd; Benoît Leclair; Steven Niezgoda; Thomas J Parsons; Elizabeth Pugh; Robert Shaler; Stephen T Sherry; Amanda Sozer; Anne Walsh
Epidemiology. DNA identifications after the 9/11 World Trade Center attack.
Science (New York, N.Y.) 2005;310(5751):1122-3.
2005: Leslie G Biesecker
Mapping phenotypes to language: a proposal to organize and standardize the clinical descriptions of malformations.
Clinical genetics 2005;68(4):320-6.
2005: Takaya Nakane; Leslie G Biesecker
No evidence for triallelic inheritance of MKKS/BBS loci in Amish Mckusick-Kaufman syndrome.
American journal of medical genetics. Part A 2005;138(1):32-4.
2005: Stacie K Loftus; Jennifer L Cannons; Arturo Incao; Evgenia Pak; Amy Chen; Patricia M Zerfas; Mark A Bryant; Leslie G Biesecker; Pamela L Schwartzberg; William J Pavan
Acinar cell apoptosis in Serpini2-deficient mice models pancreatic insufficiency.
PLoS genetics 2005;1(3):e38.
2005: James V Twede; Joyce T Turner; Leslie G Biesecker; Thomas Darling
Evolution of skin lesions in Proteus syndrome.
Journal of the American Academy of Dermatology 2005;52(5):834-8.
2005: Eilis A Boudreau; Kore Liow; Carol Frattali; Edythe A Wiggs; Joyce T Turner; Penelope Feuillan; Susumu Sato; Athos Patsalides; Nicholas Patronas; Leslie G Biesecker; William H Theodore
Hypothalamic hamartomas and seizures: distinct natural history of isolated and Pallister-Hall syndrome cases.
Epilepsia 2005;46(1):42-7.
2005: A Azzam; DM Lerner; Kathryn F Peters; Edythe A Wiggs; Donald Rosenstein; Leslie G Biesecker
Psychiatric and neuropsychological characterization of Pallister-Hall syndrome.
Clinical genetics 2005;67(1):87-92.
2004: Joyce T Turner; M Michael Cohen; Leslie G Biesecker
Reassessment of the Proteus syndrome literature: application of diagnostic criteria to published cases.
American journal of medical genetics. Part A 2004;130A(2):111-22.
2004: Leslie G Biesecker
Surrendered autonomy for genetic screening.
American journal of medical genetics. Part A 2004;129A(2):165.
2004: Anne M Slavotinek; Amalia Dutra; Dzifa Kpodzo; Evgenia Pak; Takaya Nakane; Joyce Turner; Margo Whiteford; Leslie G Biesecker; Pamela Stratton
A female with complete lack of Müllerian fusion, postaxial polydactyly, and tetralogy of fallot: genetic heterogeneity of McKusick-Kaufman syndrome or a unique syndrome?
American journal of medical genetics. Part A 2004;129A(1):69-72.
2004: Diem Nguyen; Joyce T Turner; Cara Olsen; Leslie G Biesecker; Thomas Darling
Cutaneous manifestations of proteus syndrome: correlations with general clinical severity.
Archives of dermatology 2004;140(8):947-53.
2004: Carlos A Jamis-Dow; Joyce Turner; Leslie G Biesecker; Peter L Choyke
Radiologic manifestations of Proteus syndrome.
Radiographics : a review publication of the Radiological Society of North America, Inc 2004;24(4):1051-68.
2004: Leslie G Biesecker
Phenotype matters.
Nature genetics 2004;36(4):323-4.
2004: David Ng; Nalin Thakker; Connie M Corcoran; Dian Donnai; Rahat Perveen; Adele Schneider; Donald W Hadley; Cynthia J Tifft; Liqun Zhang; Andrew O M Wilkie; Jasper J van der Smagt; Robert J Gorlin; Shawn M Burgess; Vivian J Bardwell; Graeme C M Black; Leslie G Biesecker
Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR.
Nature genetics 2004;36(4):411-6.
2004: David Ng; jennifer johnston; Joyce T Turner; Eilis A Boudreau; Edythe A Wiggs; William H Theodore; Leslie G Biesecker
Gonadal mosaicism in severe Pallister-Hall syndrome.
American journal of medical genetics. Part A 2004;124A(3):296-302.
2003: jennifer johnston; Isabelle Olivos-Glander; Joyce Turner; Kyrieckos Aleck; Lynne M Bird; Lakshmi Mehta; R Neil Schimke; Heidi Heilstedt; J Edward Spence; Jan Blancato; Leslie G Biesecker
Clinical and molecular delineation of the Greig cephalopolysyndactyly contiguous gene deletion syndrome and its distinction from acrocallosal syndrome.
American journal of medical genetics. Part A 2003;123A(3):236-42.
2003: Leslie G Biesecker
Heritable syndromes with hypothalamic hamartoma and seizures: using rare syndromes to understand more common disorders.
Epileptic disorders : international epilepsy journal with videotape 2003;5(4):235-8.
2003: M Michael Cohen; Joyce T Turner; Leslie G Biesecker
Proteus syndrome: misdiagnosis with PTEN mutations.
American journal of medical genetics. Part A 2003;122A(4):323-4.
2003: Richa Agarwala; Leslie G Biesecker; Alejandro A Schäffer
Anabaptist genealogy database.
American journal of medical genetics. Part C, Seminars in medical genetics 2003;121C(1):32-7.
2003: Clair A Francomano; Victor A McKusick; Leslie G Biesecker
Medical genetic studies in the Amish: historical perspective.
American journal of medical genetics. Part C, Seminars in medical genetics 2003;121C(1):1-4.
2003: Leslie G Biesecker
Response to "chromosome bands and ends (revisited)".
American journal of medical genetics. Part A 2003;120A(3):445.
2003: Joseph F Fitzgerald; Riccardo Troncone; Ali A Bader; Leslie G Biesecker
Clinical quiz. D Proteus syndrome.
Journal of pediatric gastroenterology and nutrition 2003;37(1):71, 90.
2003: Kyle T Kurpinski; Patricia A Magyari; Robert J Gorlin; David Ng; Leslie G Biesecker
Designation of the TARP syndrome and linkage to Xp11.23-q13.3 without samples from affected patients.
American journal of medical genetics. Part A 2003;120A(1):1-4.
2003: Anne Slavotinek; Leslie G Biesecker
Genetic modifiers in human development and malformation syndromes, including chaperone proteins.
Human molecular genetics 2003;12 Spec No 1():R45-50.
2003: Clesson Turner; Christina Killoran; Nick S T Thomas; Marjorie Rosenberg; Nadia Chuzhanova; jennifer johnston; Yelena Kemel; David N Cooper; Leslie G Biesecker
Human genetic disease caused by de novo mitochondrial-nuclear DNA transfer.
Human genetics 2003;112(3):303-9.
2003: Kirk Mykytyn; Darryl Y Nishimura; Charles C Searby; Gretel Beck; Kevin Bugge; Heidi L Haines; Alberto S Cornier; Gerald F Cox; Anne B Fulton; Rivka Carmi; Alessandro Iannaccone; Samuel G Jacobson; Richard G Weleber; Alan F Wright; Ruth Riise; Raoul Hennekam; Güven Lüleci; Sibel Berker-Karauzum; Leslie G Biesecker; Edwin M Stone; Val C Sheffield
Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1).
American journal of human genetics 2003;72(2):429-37.
2002: Leslie G Biesecker
Coupling genomics and human genetics to delineate basic mechanisms of development.
Genetics in medicine : official journal of the American College of Medical Genetics 2002;4(6 Suppl):39S-42S.
2002: Leslie G Biesecker
Polydactyly: how many disorders and how many genes?
American journal of medical genetics 2002;112(3):279-83.
2002: Marjorie J Rosenberg; Richa Agarwala; Gerald Bouffard; Joie Davis; Giuseppe Fiermonte; Mark S Hilliard; Thorsten Koch; Linda M Kalikin; Izabela Makalowska; D Holmes Morton; Elizabeth M Petty; James L Weber; Ferdinando Palmieri; Richard I Kelley; Alejandro A Schäffer; Leslie G Biesecker
Mutant deoxynucleotide carrier is associated with congenital microcephaly.
Nature genetics 2002;32(1):175-9.
2002: David Ng; Donald W Hadley; Cynthia J Tifft; Leslie G Biesecker
Genetic heterogeneity of syndromic X-linked recessive microphthalmia-anophthalmia: is Lenz microphthalmia a single disorder?
American journal of medical genetics 2002;110(4):308-14.
2002: Matthew Lublin; Douglas J Schwartzentruber; Jeffrey R Lukish; Caroline Chester; Leslie G Biesecker; Kurt D Newman
Principles for the surgical management of patients with Proteus syndrome and patients with overgrowth not meeting Proteus criteria.
Journal of pediatric surgery 2002;37(7):1013-20.
2002: Anne M Slavotinek; Charles C Searby; L Al-Gazali; Raoul Hennekam; C Schrander-Stumpel; M Orcana-Losa; S Pardo-Reoyo; A Cantani; D Kumar; Q Capellini; G Neri; E Zackai; Leslie G Biesecker
Mutation analysis of the MKKS gene in McKusick-Kaufman syndrome and selected Bardet-Biedl syndrome patients.
Human genetics 2002;110(6):561-7.
2002: Leslie G Biesecker
The end of the beginning of chromosome ends.
American journal of medical genetics 2002;107(4):263-6.
2001: Leslie G Biesecker; Marjorie J Rosenberg; SJ Vacha; Joyce T Turner; M Michael Cohen
PTEN mutations and proteus syndrome.
Lancet 2001;358(9298):2079-80.
2001: Marjorie J Rosenberg; Christina Killoran; L Dziadzio; S Chang; DL Stone; Jeanne M Meck; David J Aughton; L M Bird; J Bodurtha; S B Cassidy; J M Graham; A Grix; Alan E Guttmacher; Louanne Hudgins; Chahira Kozma; R C Michaelis; R Pauli; Kathryn F Peters; Kenneth N Rosenbaum; Cynthia J Tifft; DS Wargowski; M S Williams; Leslie G Biesecker
Scanning for telomeric deletions and duplications and uniparental disomy using genetic markers in 120 children with malformations.
Human genetics 2001;109(3):311-8.
2001: Anne M Slavotinek; Leslie G Biesecker
Unfolding the role of chaperones and chaperonins in human disease.
Trends in genetics : TIG 2001;17(9):528-35.
2001: Carol Frattali; Kore Liow; G H Craig; L M Korenman; F Makhlouf; Susumu Sato; Leslie G Biesecker; William H Theodore
Cognitive deficits in children with gelastic seizures and hypothalamic hamartoma.
Neurology 2001;57(1):43-6.
2001: Leslie G Biesecker
The multifaceted challenges of Proteus syndrome.
JAMA : the journal of the American Medical Association 2001;285(17):2240-3.
2001: Darryl Y Nishimura; Charles C Searby; Rivka Carmi; Khalil Elbedour; L Van Maldergem; Anne B Fulton; Byron Lam; B R Powell; Ruth E Swiderski; K E Bugge; Neena B Haider; A E Kwitek-Black; L Ying; David Duhl; SW Gorman; E Heon; Alessandro Iannaccone; D Bonneau; Leslie G Biesecker; Samuel G Jacobson; Edwin M Stone; Val C Sheffield
Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2).
Human molecular genetics 2001;10(8):865-74.
2001: Cinzia Galasso; Giuseppe Scirè; Francesca Fabbri; Gilberto Spadoni; Christina Killoran; Leslie G Biesecker; Brunetto Boscherini
Long-term treatment with growth hormone improves final height in a patient with Pallister-Hall syndrome.
American journal of medical genetics 2001;99(2):128-31.
2001: Penelope Feuillan; Kathryn F Peters; Gordon B Cutler; Leslie G Biesecker
Evidence for decreased growth hormone in patients with hypothalamic hamartoma due to Pallister-Hall syndrome.
Journal of pediatric endocrinology & metabolism : JPEM 2001;14(2):141-9.
2000: A M Slavotinek; SJ Vacha; Kathryn F Peters; Leslie G Biesecker
Sudden death caused by pulmonary thromboembolism in Proteus syndrome.
Clinical genetics 2000;58(5):386-9.
2000: Jie Liu; D Litman; Marjorie J Rosenberg; Shuhua Yu; Leslie G Biesecker; Lee S Weinstein
A GNAS1 imprinting defect in pseudohypoparathyroidism type IB.
The Journal of clinical investigation 2000;106(9):1167-74.
2000: jennifer johnston; Richard I Kelley; Thomas O Crawford; D Holmes Morton; Richa Agarwala; T Koch; Alejandro A Schäffer; Clair A Francomano; Leslie G Biesecker
A novel nemaline myopathy in the Amish caused by a mutation in troponin T1.
American journal of human genetics 2000;67(4):814-21.
2000: Anne M Slavotinek; Edwin M Stone; Kirk Mykytyn; John R Heckenlively; J S Green; E Heon; Maria A Musarella; P S Parfrey; Val C Sheffield; Leslie G Biesecker
Mutations in MKKS cause Bardet-Biedl syndrome.
Nature genetics 2000;26(1):15-6.
2000: Christina Killoran; M Abbott; Victor A McKusick; Leslie G Biesecker
Overlap of PIV syndrome, VACTERL and Pallister-Hall syndrome: clinical and molecular analysis.
Clinical genetics 2000;58(1):28-30.
2000: DL Stone; Anne M Slavotinek; Gerald Bouffard; Sharmila Banerjee-Basu; Andreas D Baxevanis; Mason Barr; Leslie G Biesecker
Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome.
Nature genetics 2000;25(1):79-82.
2000: Marjorie J Rosenberg; David Vaske; Christina Killoran; Yi Ning; DS Wargowski; Louanne Hudgins; Cynthia J Tifft; Jeanne M Meck; Jan Blancato; Kenneth N Rosenbaum; R M Pauli; J Weber; Leslie G Biesecker
Detection of chromosomal aberrations by a whole-genome microsatellite screen.
American journal of human genetics 2000;66(2):419-27.
1999: V Shotelersuk; Cynthia J Tifft; SJ Vacha; Kathryn F Peters; Leslie G Biesecker
Discordance of oral-facial-digital syndrome type 1 in monozygotic twin girls.
American journal of medical genetics 1999;86(3):269-73.
1999: Richa Agarwala; Leslie G Biesecker; JF Tomlin; Alejandro A Schäffer
Towards a complete North American Anabaptist genealogy: A systematic approach to merging partially overlapping genealogy resources.
American journal of medical genetics 1999;86(2):156-61.
1999: Leslie G Biesecker; R Happle; J B Mulliken; R Weksberg; J M Graham; D L Viljoen; M Michael Cohen
Proteus syndrome: diagnostic criteria, differential diagnosis, and patient evaluation.
American journal of medical genetics 1999;84(5):389-95.
1999: S H Shin; P Kogerman; E Lindström; R Toftgárd; Leslie G Biesecker
GLI3 mutations in human disorders mimic Drosophila cubitus interruptus protein functions and localization.
Proceedings of the National Academy of Sciences of the United States of America 1999;96(6):2880-4.
1998: Leslie G Biesecker; F Ondrey
Pallister-Hall syndrome.
Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery 1998;119(5):556.
1998: Leslie G Biesecker; Kathryn F Peters; Thomas Darling; P Choyke; S Hill; N Schimke; M Cunningham; P Meltzer; M Michael Cohen
Clinical differentiation between Proteus syndrome and hemihyperplasia: description of a distinct form of hemihyperplasia.
American journal of medical genetics 1998;79(4):311-8.
1998: DL Stone; Leslie G Biesecker
Identification of microsatellite markers tightly linked to the Gli2 putative zinc finger transcription factor gene.
Clinical genetics 1998;53(6):488-9.
1998: S Chang; Marjorie J Rosenberg; H Morton; Clair A Francomano; Leslie G Biesecker
Identification of a mutation in liver glycogen phosphorylase in glycogen storage disease type VI.
Human molecular genetics 1998;7(5):865-70.
1998: DL Stone; Richa Agarwala; Alejandro A Schäffer; James L Weber; David Vaske; T Oda; Settara C Chandrasekharappa; Clair A Francomano; Leslie G Biesecker
Genetic and physical mapping of the McKusick-Kaufman syndrome.
Human molecular genetics 1998;7(3):475-81.
1998: S R Kosaraju; Alejandro A Schäffer; Leslie G Biesecker
Approximation algorithms for a genetic diagnostics problem.
Journal of computational biology : a journal of computational molecular cell biology 1998;5(1):9-26.
1997: E Schröck; T Veldman; Hesed Padilla-Nash; Yi Ning; J Spurbeck; S Jalal; Lisa Shaffer; P Papenhausen; C Kozma; M C Phelan; E Kjeldsen; S A Schonberg; P O'Brien; Leslie G Biesecker; S du Manoir; Thomas Ried
Spectral karyotyping refines cytogenetic diagnostics of constitutional chromosomal abnormalities.
Human genetics 1997;101(3):255-62.
1997: S Kang; M Rosenberg; V D Ko; Leslie G Biesecker
Gene structure and allelic expression assay of the human GLI3 gene.
Human genetics 1997;101(2):154-7.
1997: DL Stone; Leslie G Biesecker
Mitochondrial NP 3243 point mutation is not a common cause of VACTERL association.
American journal of medical genetics 1997;72(2):237-8.
1997: M Rosenberg; L Hui; J Ma; H C Nusbaum; K Clark; L Robinson; L Dziadzio; P M Swain; T Keith; Thomas J Hudson; Leslie G Biesecker; J Flint
Characterization of short tandem repeats from thirty-one human telomeres.
Genome research 1997;7(9):917-23.
1997: S Kang; J Allen; J M Graham; T Grebe; C Clericuzio; N Patronas; F Ondrey; Eric Green; A Schäffer; M Abbott; Leslie G Biesecker
Linkage mapping and phenotypic analysis of autosomal dominant Pallister-Hall syndrome.
Journal of medical genetics 1997;34(6):441-6.
1997: EG DeRenzo; Leslie G Biesecker; N Meltzer
Genetics and the dead: implications for genetics research with samples from deceased persons.
American journal of medical genetics 1997;69(3):332-4.
1997: Leslie G Biesecker; Alejandro A Schäffer
Automated selection of short tandem repeat polymorphism markers for whole genome screening for segmental aneusomy.
Human heredity 1997;47(2):76-85.
1997: S Kang; J M Graham; A H Olney; Leslie G Biesecker
GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome.
Nature genetics 1997;15(3):266-8.
1996: Leslie G Biesecker; S Kang; Alejandro A Schäffer; M Abbott; Richard I Kelley; J C Allen; C Clericuzio; T Grebe; A Olney; J M Graham
Exclusion of candidate loci and cholesterol biosynthetic abnormalities in familial Pallister-Hall syndrome.
Journal of medical genetics 1996;33(11):947-51.
1996: Leslie G Biesecker; M Abbott; J Allen; C Clericuzio; Penelope Feuillan; J M Graham; J Hall; S Kang; A H Olney; Daniel Lefton; G Neri; K Peters; Alain Verloes
Report from the workshop on Pallister-Hall syndrome and related phenotypes.
American journal of medical genetics 1996;65(1):76-81.
1996: D Stone; Yi Ning; XY Guan; Muriel I Kaiser-Kupfer; Anthony Wynshaw-Boris; Leslie G Biesecker
Characterization of familial partial 10p trisomy by chromosomal microdissection, FISH, and microsatellite dosage analysis.
Human genetics 1996;98(4):396-402.
1996: Leslie G Biesecker; J M Graham
Pallister-Hall syndrome.
Journal of medical genetics 1996;33(7):585-9.
1996: Yi Ning; M Rosenberg; Leslie G Biesecker; David Ledbetter
Isolation of the human chromosome 22q telomere and its application to detection of cryptic chromosomal abnormalities.
Human genetics 1996;97(6):765-9.
1996: Leslie G Biesecker
Orphan tests.
Cambridge quarterly of healthcare ethics : CQ : the international journal of healthcare ethics committees 1996;5(2):300-6.
1995: L Williamson-Kruse; Leslie G Biesecker
Pfeiffer type cardiocranial syndrome: a third case report.
Journal of medical genetics 1995;32(11):901-3.
1995: Leslie G Biesecker; EG DeRenzo
Internet solicitation of research subjects for genetic studies.
American journal of human genetics 1995;57(5):1255-6.
1995: Leslie G Biesecker; M Rosenberg; L Dziadzio; David Ledbetter; Yi Ning; C Sarneso; K Rosenbaum
Detection of a subtle rearrangement of chromosome 22 using molecular techniques.
American journal of medical genetics 1995;58(4):389-94.
1995: Leslie G Biesecker; Francis S Collins; EG DeRenzo; C Grady; C R MacKay
Case: responding to a request for genetic testing that is still in the lab.
Cambridge quarterly of healthcare ethics : CQ : the international journal of healthcare ethics committees 1995;4(3):387-400.