The multifaceted challenges of Proteus syndromeBIESECKER, Leslie G.JAMA, the journal of the American Medical Association. 2001, Vol 285, Num 17, pp 2240-2243, issn 0098-7484Article

Heritable syndromes with hypothalamic hamartoma and seizures: using rare syndromes to understand more common disordersBIESECKER, Leslie G.Epileptic disorders. 2003, Vol 5, Num 4, pp 235-238, issn 1294-9361, 4 p.Article

No evidence for triallelic inheritance of MKKS/BBS loci in amish mckusick-kaufman syndromeNAKANE, Takaya; BIESECKER, Leslie G.American journal of medical genetics. 2005, Vol 138A, Num 1, pp 32-34, issn 0148-7299, 3 p.Article

The Clinical Atlas of Greig Cephalopolysyndactyly SyndromeBALK, Katherine; BIESECKER, Leslie G.American journal of medical genetics. Part A. 2008, Vol 146, Num 5, pp 548-557, issn 1552-4825, 10 p.Article

Polydactyly: How many disorders and how many genes?BIESECKER, Leslie G.American journal of medical genetics. 2002, Vol 112, Num 3, pp 279-283, issn 0148-7299, 5 p.Conference Paper

Anabaptist Genealogy DatabaseAGARWALA, Richa; BIESECKER, Leslie G; SCHÄFFER, Alejandro A et al.American journal of medical genetics. 2003, Vol 121C, Num 1, pp 32-37, issn 0148-7299, 6 p.Article

Medical genetic studies in the AmishFRANCOMANO, Clair A; BIESECKER, Leslie G.American journal of medical genetics. 2003, Vol 121C, Num 1, issn 0148-7299, 85 p.Serial Issue

Diagnostic Clinical Genome and Exome SequencingBIESECKER, Leslie G; GREEN, Robert C.The New England journal of medicine. 2014, Vol 370, Num 25, pp 2418-2425, issn 0028-4793, 8 p.Article

Clinical quizBADER, Ali A; BIESECKER, Leslie G.Journal of pediatric gastroenterology and nutrition. 2003, Vol 37, Num 1, issn 0277-2116, 71,90 [2 p.]Article

Unfolding the role of chaperones and chaperonins in human diseaseSLAVOTINEK, Anne M; BIESECKER, Leslie G.Trends in genetics (Regular ed.). 2001, Vol 17, Num 9, pp 528-535, issn 0168-9525Article

Phenotypic overlap of McKusick-Kaufman syndrome with Bardet-Biedl syndrome : A literature reviewSLAVOTINEK, Anne M; BIESECKER, Leslie G.American journal of medical genetics. 2000, Vol 95, Num 3, pp 208-215, issn 0148-7299Article

Reassessment of the proteus syndrome literature: Application of diagnostic criteria to published casesTURNER, Joyce T; COHEN, M. Michael; BIESECKER, Leslie G et al.American journal of medical genetics. 2004, Vol 130A, Num 2, pp 111-122, issn 0148-7299, 12 p.Article

Genetic modifiers in human development and malformation syndromes, including chaperone proteinsSLAVOTINEK, Anne; BIESECKER, Leslie G.Human molecular genetics (Print). 2003, Vol 12, pp R45-R50, issn 0964-6906, NS1Article

Reporting Genomic Sequencing Results to Ordering Clinicians: Incidental, but Not ExceptionalGREEN, Robert C; LUPSKI, James R; BIESECKER, Leslie G et al.JAMA, the journal of the American Medical Association. 2013, Vol 310, Num 4, pp 365-366, issn 0098-7484, 2 p.Article

Identification of a novel LDLR mutation (c.261262invGA, p.Trp87X): Importance of specifying DNA and protein mutationsNG, David; SPAULDING, Emma; MULLIKIN, James C et al.Atherosclerosis. 2010, Vol 211, Num 2, pp 397-398, issn 0021-9150, 2 p.Article

Genetic heritage of the Old Order Mennonites of southeastern PennsylvaniaPUFFENBERGER, E. G.American journal of medical genetics. 2003, Vol 121C, Num 1, pp 18-31, issn 0148-7299, 14 p.Article

Progressive overgrowth of the cerebriform connective tissue nevus in patients with Proteus syndromeBEACHKOFSKY, Thomas M; SAPP, Julie C; BIESECKER, Leslie G et al.Journal of the American Academy of Dermatology. 2010, Vol 63, Num 5, pp 799-804, issn 0190-9622, 6 p.Article

Type I glutaric aciduria, Part 2: A model of acute striatal necrosisSTRAUSS, Kevin A; MORTON, D. Holmes.American journal of medical genetics. 2003, Vol 121C, Num 1, pp 53-70, issn 0148-7299, 18 p.Article

VarSifter: Visualizing and analyzing exome-scale sequence variation data on a desktop computerTEER, Jamie K; GREEN, Eric D; MULLIKIN, James C et al.Bioinformatics (Oxford. Print). 2012, Vol 28, Num 4, pp 599-600, issn 1367-4803, 2 p.Article

Cutaneous manifestations of Proteus syndrome: Correlations with general clinical severityNGUYEN, Diem; TURNER, Joyce T; OLSEN, Cara et al.Archives of dermatology (1960). 2004, Vol 140, Num 8, pp 947-953, issn 0003-987X, 7 p.Article

Genetic heterogeneity of syndromic X-linked recessive microphthalmia-anophthalmia: Is Lenz microphthalmia a single disorder?NG, David; HADLEY, Donald W; TIFFT, Cynthia J et al.American journal of medical genetics. 2002, Vol 110, Num 4, pp 308-314, issn 0148-7299Article

Evolution of skin lesions in Proteus syndromeTWEDE, James V; TURNER, Joyce T; BIESECKER, Leslie G et al.Journal of the American Academy of Dermatology. 2005, Vol 52, Num 5, pp 834-838, issn 0190-9622, 5 p.Article

Designation of the TARP syndrome and linkage to Xp11.23-q13.3 without samples from affected patientsKURPINSKI, Kyle T; MAGYARI, Patricia A; GORLIN, Robert J et al.American journal of medical genetics. 2003, Vol 120A, Num 1, pp 1-4, issn 0148-7299, 4 p.Article

Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CALINDHURST, Marjorie J; PARKER, Victoria E. R; DALY, Allan et al.Nature genetics. 2012, Vol 44, Num 8, pp 928-933, issn 1061-4036, 6 p.Article

Ethical and Practical Guidelines for Reporting Genetic Research Results to Study Participants: Updated Guidelines From a National Heart, Lung, and Blood Institute Working GroupFABSITZ, Richard R; MCGUIRE, Amy; WRIGHT CLAYTON, Ellen et al.Circulation. Cardiovascular genetics (Print). 2010, Vol 3, Num 6, pp 574-580, issn 1942-325X, 7 p.Article