LeahWeyerts(Weyerts)BurkeMD

PubMed

• 8 citations
  Birth outcomes in women who have taken hydroxycholoroquine in pregnancy: a prospective cohort study.
  Christina D. Chambers, Diana Johnson, Ronghui Xu, Yunjun Luo, Robert J. Felix, Minh Fine, Chloe Lessard, Margaret P. Adam, Stephen R. Braddock, Luther K. Robinson, Lea...> ;Arthritis & Rheumatology. 2021 Nov 1
• 1 citations
  Two Cases of Preaxial Polydactyly of the Foot: Important Implications for Plastic Surgeons.
  Max L Silverstein, Leah W. Burke, Donald R Laub> ;Plastic and Reconstructive Surgery. Global Open. 2021 Feb 17
• 14 citations
  Call for improvement in medical school training in genetics: results of a national survey
  Richard L. Haspel, Jonathan R. Genzen, Jay Wagner, Karen Fong, Rebecca Wilcox, Patricia Adem, Hana Anderson, James B. Atkinson, Leah W. Burke, Loren Joseph, Robin D. L...> ;Genetics in Medicine. 2021 Feb 12
• 12 citations
  EP300-related Rubinstein-Taybi syndrome: Highlighted rare phenotypic findings and a genotype-phenotype meta-analysis of 74 patients.
  Jennifer L. Cohen, Samantha A. Schrier Vergano, Sarah Mazzola, Alanna Strong, Beth Keena, Carey McDougall, Alyssa Ritter, Dong Li, Emma Bedoukian, Leah W. Burke, Amber...> ;American Journal of Medical Genetics. Part A. 2020 Oct 11
• 5 citations
  Utilizing RNA and outlier analysis to identify an intronic splice-altering variant in AP4S1 in a sibling pair with progressive spastic paraplegia.
  Carmel G McCullough, Szabolcs Szelinger, Newell Belnap, Keri Ramsey, Isabelle Schrauwen, Ana M. Claasen, Leah W. Burke, Ashley L. Siniard, Matthew J. Huentelman, Vinod...> ;Human Mutation. 2020 Feb 1
• 20 citations
  Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.
  Magdalena Koczkowska, Tom Callens, Alicia Gomes, Angela Sharp, Yunjia Chen, Alesha D Hicks, Arthur S Aylsworth, Amedeo A Azizi, Donald G Basel, Gary Bellus, Lynne M Bi...> ;Genetics in Medicine. 2019 Apr 1
• 19 citations
  The Undergraduate Training in Genomics (UTRIG) Initiative: early & active training for physicians in the genomic medicine era.
  Rebecca Wilcox, Patricia Adem, Ebrahim Afshinnekoo, James B. Atkinson, Leah W. Burke, Hoiwan Cheung, Shoumita Dasgupta, Julia DeLaGarza, Loren Joseph, Robin D. LeGallo...> ;Personalized Medicine. 2018 May 1
• Correction to: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlat...
  Magdalena Koczkowska, Tom Callens, Alicia Gomes, Angela Sharp, Yunjia Chen, Alesha D. Hicks, Arthur S. Aylsworth, Amedeo A. Azizi, Donald Basel, Gary Bellus, Lynne M. ...> ;Genetics in Medicine. 2018 Jan 1
• 1 citations
  Tissue Specificity in Trisomy 22 Mosaicism: A Tale of Caution for Interpretation of Chromosomal Microarray Results.
  Jeffrey D Covington, Calista Campbell, Leah W. Burke, Juli-Anne Gardner> ;Journal of the Association of Genetic Technologists. 2018 Jan 1
• 120 citations
  PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution
  Ghayda M. Mirzaa, Andrew E. Timms, Valerio Conti, Evan A. Boyle, Katta M. Girisha, Beth Martin, Martin Kircher, Carissa Olds, Jane Juusola, Sarah Collins, Kaylee Park,...> ;JCI Insight. 2016 Jun 16
• 3 citations
  Disclosure of Genome Sequencing Results: Are Pediatricians Ready?
  Leah W. Burke> ;Pediatrics. 2015 Oct 1
• 5 citations
  Pai Syndrome: Median Cleft Lip, Corpus Callosum Lipoma, and Fibroepithelial Skin Tag
  Jacob Azurdia, Leah W. Burke, Donald R. Laub> ;Eplasty. 2014 Mar 15
• 1 citations
  Familial unilateral ectopia lentis
  John W. Simon, Jeremy M. Cotliar, Leah W. Burke> ;Journal of AAPOS. 2007 Dec 1
• 43 citations
  Multigene deletions on chromosome 20q13.13‐q13.2 including SALL4 result in an expanded phenotype of Okihiro syndrome plus developmental delay
  Wiktor Borozdin, John M. Graham, Detlef Böhm, Michael J. Bamshad, Stefanie Spranger, Leah W. Burke, Michael Leipoldt, Jürgen Kohlhase> ;Human Mutation. 2007 Aug 1
• 47 citations
  SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype.
  Elke M. Botzenhart, Andrew Green, Helena Ilyina, Rainer König, R. Brian Lowry, Ivan F M Lo, Mordechai Shohat, Leah W. Burke, Julie McGaughran, Ronit Chafai, Genevieve ...> ;Human Mutation. 2005 Sep 1
• 29 citations
  Marshall-Smith syndrome: natural history and evidence of an osteochondrodysplasia with connective tissue abnormalities.
  Margaret P Adam, Raoul C.M. Hennekam, Laura D Keppen, Marilyn J. Bull, Carol L. Clericuzio, Leah W. Burke, Kelly E. Ormond, Eugene H. Hoyme> ;American Journal of Medical Genetics. Part A. 2005 Aug 30
• 31 citations
  Toriello-Carey Syndrome: Delineation and Review
  Helga V. Toriello, John C. Carey, Marie-Claude Addor, William Allen, Leah W. Burke, Nicole Chun, William B. Dobyns, Ellen R. Elias, Renata C. Gallagher, Roel Hordijk, ...> ;American Journal of Medical Genetics. Part A. 2003 Nov 15
• 44 citations
  Ring chromosome X in a child with manifestations of Kabuki syndrome.
  Matthew J. McGinniss, David H. Brown, Leah W. Burke, James T. Mascarello, Marilyn C. Jones> ;American Journal of Medical Genetics. 1997 May 2
• 21 citations
  Familial cryptic translocation resulting in Angelman syndrome : Implications for imprinting or location of the Angelman gene ?
  Leah W. Burke, John E. Wiley, Christopher C. Glenn, Daniel J. Driscoll, Kenneth Loud, April J. W. Smith, Theodore Kushnick> ;American Journal of Human Genetics. 1996 Apr 1
• Kabuki syndrome: underdiagnosed recognizable pattern in cleft palate patients.
  Burke, L. W., Jones, M. C.> ;Cleft Palate Craniofac J. 1995 Jan
• Join now to see all

Journal Articles

• Expanding the Clinical Phenotype of Individuals with a 3-Bp in-Frame Deletion of the NF1 Gene (c.2970_2972del): An Update of Genotype–Phenotype Correlation  
  Rachel K Hachen, Elizabeth K Schorry, Arthur S Aylsworth, Katherine A Rauen, Ashraf Syed, Daryl A Scott, Lois J Starr, Donald G Basel, Lynne M Bird, Leah W Burke, Mari..., Nature