DarrelJWaggonerMD

PubMed

• 4 citations
  NovelKabuki Syndrome Mutation With Hyperinsulinemic Hypoglycemia and Pulmonary Hypertension Requiring ECMO.
  Maria V Salguero, Karen Chan, Siri Atma W Greeley, Umesh Dyamenahalli, Darrel Waggoner, Daniela Del Gaudio, Tara Rajiyah, Michelle Lemelman> ;Journal of the Endocrine Society. 2022 Apr 1
• The relationship between performance on the medical genetics and genomics in-training and certifying examinations
  Darrel Waggoner, Francis O’Donnell, Azra H. Ligon, Nathaniel H. Robin, Kevin McAllister, Miriam G. Blitzer> ;Genetics in Medicine. 2021 Nov 30
• 19 citations
  Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders.
  Fanny Mochel, Agnès Rastetter, Berten Ceulemans, Konrad Platzer, Sandra Yang, Deepali N. Shinde, Katherine L. Helbig, Diego Lopergolo, Francesca Mari, Alessandra Renie...> ;Brain. 2020 Dec 1
• 8 citations
  Training the next generation of genomic medicine providers: trends in medical education and national assessment.
  Shoumita Dasgupta, Gerald L. Feldman, Cynthia M. Powell, Helga V. Toriello, Judith A. Westman, William G. Wilson, Darrel Waggoner> ;Genetics in Medicine. 2020 Jun 18
• 32 citations
  MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.
  Christopher C.Y. Mak, Dan Doherty, Angela E. Lin, Nancy Vegas, Megan T. Cho, Géraldine Viot, Clémantine Dimartino, James D. Weisfeld-Adams, Davor Lessel, Shelagh Joss,...> ;Brain. 2020 Jan 1
• A Phenotypic Female Adolescent with Primary Amenorrhea and Dysmorphic Features.
  Diboro Kanabolo, Joseph Rodriguez, Darrel Waggoner, Susan Tucker, Dianne Deplewski, Benjamin Kaumeyer, Ricardo R. Lastra, Mohan S. Gundeti> ;Pediatric Annals. 2019 Dec 1
• 13 citations
  A pathogenic CtBP1 missense mutation causes altered cofactor binding and transcriptional activity
  David B. Beck, Thirugnana Subramanian, S. Vijayalingam, Uthayashankar R. Ezekiel, Sandra Donkervoort, Michele L. Yang, Holly Dubbs, Xilma R. Ortiz-Gonzalez, Shenela La...> ;Neurogenetics. 2019 Apr 30
• 14 citations
  Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 9 affected individuals.
  Kai Lee Yap, Amy E Knight Johnson, David Fischer, Priscilla Kandikatla, Jacea Deml, Viswateja Nelakuditi, Sara Halbach, George S Jeha, Lindsay C Burrage, Olaf Bodamer,...> ;Genetics in Medicine. 2019 Jan 1
• 55 citations
  Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes.
  Miao Sun, Amy K. Johnson, Viswateja Nelakuditi, Lucia Guidugli, David Fischer, Kelly Arndt, Lan Ma, Erin Sandford, Vikram G. Shakkottai, Kym M. Boycott, Jodi Warman Ch...> ;Genetics in Medicine. 2019 Jan 1
• 40 citations
  Yield of additional genetic testing after chromosomal microarray for diagnosis of neurodevelopmental disability and congenital anomalies: a clinical practice resource ...
  Darrel Waggoner, Karen E. Wain, Adrian M. Dubuc, Laura K. Conlin, Scott E. Hickey, Allen N. Lamb, Christa Lese Martin, Cynthia C. Morton, Kristen Rasmussen, Jane L. Sc...> ;Genetics in Medicine. 2018 Jun 18
• 13 citations
  The natural history of phytosterolemia: Observations on its homeostasis
  David Mymin, Gerald Salen, Barbara Triggs-Raine, Darrell J. Waggoner, Thomas Dembinski, Grant M. Hatch> ;Atherosclerosis. 2018 Feb 1
• 5 citations
  Correction to: Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals (Genetics in...
  Kai Lee Yap, Amy E. Knight Johnson, David Fischer, Priscilla Kandikatla, Jacea Deml, Viswateja Nelakuditi, Sara Halbach, George S. Jeha, Lindsay C. Burrage, Olaf Bodam...> ;Genetics in Medicine. 2018 Jan 1
• 14 citations
  Medical genetics and genomics education: how do we define success? Where do we focus our resources?
  Robin L. Bennett, Darrel Waggoner, Miriam G. Blitzer> ;Genetics in Medicine. 2017 Jun 15
• 259 citations
  Synopsis of Guidelines for the Clinical Management of Cerebral Cavernous Malformations: Consensus Recommendations Based on Systematic Literature Review by the Angioma ...
  Amy Akers, Rustam Al-Shahi Salman, Issam A. Awad, Kristen Dahlem, Kelly D. Flemming, Blaine L. Hart, Helen Kim, Ignacio Jusué-Torres, Douglas Kondziolka, Cornelia Lee,...> ;Neurosurgery. 2017 May 1
• 13 citations
  Pathogenic Variant in ACTB, p.Arg183Trp, Causes Juvenile-Onset Dystonia, Hearing Loss, and Developmental Delay without Midline Malformation
  Erin Conboy, Filippo Vairo, Darrel Waggoner, Carole Ober, Soma Das, Radhika Dhamija, Eric W. Klee, Pavel N. Pichurin> ;Case Reports in Genetics. 2017 Apr 12
• 3 citations
  The Effect of the Testis on the Ovary: Structure-Function Relationships in a Neonate with a Unilateral Ovotestis (Ovotesticular Disorder of Sex Development)
  Siri Atma W. Greeley, Elizabeth Littlejohn, Aliya N. Husain, Darrel Waggoner, Mohan S. Gundeti, Robert L. Rosenfield> ;Hormone Research in Paediatrics. 2017 Mar 2
• 104 citations
  Recommendations for the integration of genomics into clinical practice.
  Sarah Bowdin, Adel Gilbert, Emma Bedoukian, Christopher Carew, Margaret P. Adam, John W. Belmont, Barbara A. Bernhardt, Leslie G. Biesecker, Hans T. Bjornsson, Miriam ...> ;Genetics in Medicine. 2016 May 12
• 27 citations
  A recurrent de novo CTBP1 mutation is associated with developmental delay, hypotonia, ataxia, and tooth enamel defects.
  David B. Beck, Megan T. Cho, Francisca Millan, Carin Yates, Mark C. Hannibal, Bridget C. O’Connor, Marwan Shinawi, Anne M. Connolly, Darrel Waggoner, Sara Halbach, Bra...> ;Neurogenetics. 2016 Apr 19
• 3 citations
  BATTEN DISEASE CAUSED BY A NOVEL MUTATION IN THE PPT1 GENE.
  Tatyana I. Metelitsina, Darrel Waggoner, Michael A. Grassi> ;Retinal Cases & Brief Reports. 2016 Jan 1
• 5 citations
  Syndromic craniosynostosis associated with microdeletion of chromosome 19p13.12-19p13.2.
  Sarah Lyon, Darrel Waggoner, Sara Halbach, Erik C. Thorland, Leila Khorasani, Russell R. Reid> ;Genes & Diseases. 2015 Dec 1
• 2 citations
  4q21 microdeletion in a patient with epilepsy and brain malformations.
  Sho T. Yano, Meredithe McNamara, Sara Halbach, Darrel Waggoner> ;American Journal of Medical Genetics. Part A. 2015 Jun 1
• 37 citations
  An Estimate of the Average Number of Recessive Lethal Mutations Carried by Humans
  Ziyue Gao, Darrel Waggoner, Matthew Stephens, Carole Ober, Molly Przeworski> ;Genetics. 2015 Apr 1
• A 13‐Year Old Female with Intractable Seizures
  Nhu Thuy Can, Amber Nolan, Darrel Waggoner, Kenneth Silver, Peter Pytel> ;Brain Pathology. 2015 Mar 1
• 4 citations
  A Review of Fanconi Anemia for the Practicing Pediatrician.
  Justin D Triemstra, An Pham, Lindsay Rhodes, Darrel Waggoner, Kenan Onel> ;Pediatric Annals. 2015 Oct 1
• 28 citations
  Professional Medical Education and Genomics
  Laurie A. Demmer, Darrel Waggoner> ;Annual Review of Genomics and Human Genetics. 2014 Sep 3
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