LindaMarieRandolphMD

PubMed

• 35 citations
  PEDIA: prioritization of exome data by image analysis
  Tzung-Chien Hsieh, Martin A. Mensah, Jean Tori Pantel, Dione Aguilar, Omri Bar, Allan Bayat, Luis Becerra-Solano, Heidi Beate Bentzen, Saskia Biskup, Oleg V. Borisov, ...> ;Genetics in Medicine. 2019 Jun 5
• 14 citations
  Androgenetic chimerism as an etiology for Beckwith-Wiedemann syndrome: diagnosis and management.
  Sarah E Sheppard, Emilie Lalonde, N. Scott Adzick, Anita E. Beck, Tricia R. Bhatti, Diva D. De León, Kelly A. Duffy, Arupa Ganguly, Evan R Hathaway, Jianling Ji, Rebec...> ;Genetics in Medicine. 2019 May 31
• 9 citations
  Bisphosphonate therapy in an infant with generalized arterial calcification with an ABCC6 mutation.
  S Akhtar Ali, Choo Ng, Jodie K. Votava-Smith, Linda M. Randolph, Pisit Pitukcheewanont> ;Osteoporosis International. 2018 Sep 11
• 8-Month-Old Boy with Ataxia after Ingestion of Cow's Milk.
  Xiaowei Fu, Catherine Karimov, Linda M. Randolph, Alvaro H Serrano Russi> ;Clinical Chemistry. 2018 Mar 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
• 119 citations
  High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phen...
  Kitiwan Rojnueangnit, Jing Xie, Alicia Gomes, Angela Sharp, Tom Callens, Yunjia Chen, Ying Liu, Meagan E. Cochran, Mary Alice Abbott, Joan F. Atkin, Dusica Babovic-Vuk...> ;Human Mutation. 2015 Nov 1
• 7 citations
  Absent aortic valve associated with double outlet right ventricle and aortopulmonary window: physiologic implications of a rare malformation in both the fetus and neon...
  Arash A. Sabati, Pierre C. Wong, Linda M. Randolph, Jay D. Pruetz> ;Congenital Heart Disease. 2014 May 1
• 25 citations
  Galsulfase (Naglazyme®) therapy in infants with mucopolysaccharidosis VI
  Paul Harmatz, Paula Garcia, Nathalie Guffon, Linda M. Randolph, Renée Shediac, Elizabeth A. Braunlin, Ralph S. Lachman, Celeste Decker> ;Journal of Inherited Metabolic Disease. 2014 Mar 1
• 5 citations
  Hepatoblastoma in a 15-month-old female with trisomy 13
  Rachana Shah, Hung Chi Tran, Linda M. Randolph, Leo Mascarenhas, Rajkumar Venkatramani> ;American Journal of Medical Genetics. Part A. 2014 Feb 1
• 33 citations
  Chimerism in monochorionic dizygotic twins: case study and review.
  Kristen L. Chen, Ramen H. Chmait, Douglas L. Vanderbilt, Samuel Wu, Linda M. Randolph> ;American Journal of Medical Genetics. Part A. 2013 Jul 1
• 82 citations
  Investigation of NRXN1 deletions: Clinical and molecular characterization
  , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , > ;American Journal of Medical Genetics. Part A. 2013 Apr 1
• 18 citations
  In utero detection of retinoblastoma with fetal magnetic resonance and ultrasound: initial experience.
  Lisa Paquette, David A. Miller, Hollie A. Jackson, Thomas C. Lee, Linda M. Randolph, A. Lynn Murphree, Ashok Panigrahy> ;AJP Reports. 2012 Jul 16
• 5 citations
  Prevalence of Noncardiac Structural Anomalies in Twin-Twin Transfusion Syndrome
  Shivani Patel, Linda M. Randolph, Kurt Benirschke, Arlyn Llanes, Larisa Yedigarova, Ramen H. Chmait> ;Journal of Ultrasound in Medicine. 2012 Apr 1
• 13 citations
  Fatal infantile lactic acidosis and a novel homozygous mutation in the SUCLG1 gene: A mitochondrial DNA depletion disorder
  Linda M. Randolph, Hollie A. Jackson, Jing Wang, Hiroyuki Shimada, Pedro A. Sanchez-Lara, Derek Wong, Lee-Jun C. Wong, Richard G. Boles> ;Molecular Genetics and Metabolism. 2011 Feb 1
• 18 citations
  Discordant blood chimerism in dizygotic monochorionic laser-treated twin-twin transfusion syndrome.
  Samer Assaf, Linda M. Randolph, Kurt Benirschke, Samuel Wu, Ramin Samadi, Ramen H. Chmait> ;Obstetrics and Gynecology. 2010 Aug 1
• 9 citations
  Hypoplastic left heart syndrome in patients with Kabuki syndrome.
  Grace C. Kung, Philip Chang, Mark Sklansky, Linda M. Randolph> ;Pediatric Cardiology. 2010 Jan 1
• 5 citations
  Agenesis of the ductus venosus in a fetus with nonmosaic trisomy 22.
  Karine Barseghyan, Mark Sklansky, Lisa Paquette, Linda M. Randolph, David A. Miller> ;Prenatal Diagnosis. 2009 Sep 1
• 14 citations
  Intrauterine Exposure to Mycophenolate Mofetil and Multiple Congenital Anomalies in a Newborn: Possible Teratogenic Effect
  Paige Jackson, Lisa Paquette, Valerie Watiker, Linda M. Randolph, Rangasamy Ramanathan, Istvan Seri> ;American Journal of Medical Genetics. Part A. 2009 Jun 1
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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