ErawatiVishwasBawleMD

PubMed

• 2 citations
  Toward better counseling for Down syndrome
  Erawati V. Bawle> ;Genetics in Medicine. 2012 Jan 1
• 16 citations
  Duplication of the STS region in males is a benign copy‐number variant
  Aubry Furrow, Aaron Theisen, Lea Velsher, Erawati V. Bawle, Sujatha Sastry, Nancy J. Mendelsohn, Kristi Jarvis, Lisa G. Shaffer, David Chitayat> ;American Journal of Medical Genetics. Part A. 2011 Aug 1
• 1 citations
  An Infant With Myoclonic Jerks, Global Developmental Delay, and Failure to Thrive
  Chia-Wen Lee, Erawati V. Bawle> ;Clinical Pediatrics. 2011 Jun 1
• 6 citations
  Microduplication of 4p16.3 Due to an Unbalanced Translocation Resulting in a Mild Phenotype
  Erin P. Carmany, Erawati V. Bawle> ;American Journal of Medical Genetics. Part A. 2011 Mar 15
• 51 citations
  Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency.
  Fangyuan Li, Ayman W. El-Hattab, Erawati V. Bawle, Richard G. Boles, Eric S. Schmitt, Fernando Scaglia, Lee-Jun C. Wong> ;Human Mutation. 2010 Aug 1
• 239 citations
  Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader-Willi syndrome.
  Angela L Duker, Blake C. Ballif, Erawati V. Bawle, Richard E. Person, Sangeetha Mahadevan, Sarah Alliman, Regina Thompson, Ryan N. Traylor, Bassem A. Bejjani, Lisa G. ...> ;European Journal of Human Genetics. 2010 Jun 30
• 5 citations
  Hepatic failure, neonatal hemochromatosis and porto-pulmonary hypertension in a newborn with trisomy 21 - a case report
  Erin Neil, Josef Cortez, Aparna Joshi, Erawati V. Bawle, Janet Poulik, Mark V. Zilberman, Mohammad El-Baba, Beena G. Sood> ;Italian Journal of Pediatrics. 2010 May 18
• 79 citations
  Maternal systemic primary carnitine deficiency uncovered by newborn screening: Clinical, biochemical, and molecular aspects
  Ayman W. El-Hattab, Fangyuan Li, Joseph J. Shen, Berkley R. Powell, Erawati V. Bawle, Darius J. Adams, Erica Wahl, Joyce A. Kobori, Brett H. Graham, Fernando Scaglia, ...> ;Genetics in Medicine. 2010 Jan 1
• 3 citations
  'The cost and yield of evaluations for developmental delay/mental retardation'.
  Angela L Duker, L Nicole Teed, Ronald L Thomas, Erawati V. Bawle> ;Developmental Medicine and Child Neurology. 2008 Oct 1
• 54 citations
  Heterozygous N-terminal deletion of IκBα results in functional nuclear factor κB haploinsufficiency, ectodermal dysplasia, and immune deficiency
  Douglas R. McDonald, Jana L. Mooster, Malathi Reddy, Erawati V. Bawle, Elizabeth Secord, Raif S. Geha> ;The Journal of Allergy and Clinical Immunology. 2007 Oct 1
• Growth spurt hypocalcemia.
  Kathryn Wright, Erawati V. Bawle> ;The Journal of Adolescent Health. 2006 Jun 1
• 40 citations
  The neuropsychological phenotype of velocardiofacial syndrome (VCFS): Relationship to psychopathology
  Renee Lajiness-O'Neill, Isabelle Beaulieu, Alexander Asamoah, Jeffrey B. Titus, Erawati V. Bawle, Saadia A. Ahmad, John W. Kirk, Rebecca Pollack> ;Archives of Clinical Neuropsychology. 2006 Feb 1
• 64 citations
  Memory and Learning in Children with 22q11.2 Deletion Syndrome: Evidence for Ventral and Dorsal Stream Disruption?
  Renee Lajiness-O'Neill, Isabelle Beaulieu, Jeffrey B. Titus, Alexander Asamoah, Erin D. Bigler, Erawati V. Bawle, Rebecca Pollack> ;Child Neuropsychology. 2005 Feb 1
• 16 citations
  Transmission of ring chromosome 13 from a mother to daughter with both having a 46,XX, r(13)(p13q34) karyotype.
  Jirair K. Bedoyan, Leigh Anne Flore, Aziz Alkatib, Salah A.D. Ebrahim, Erawati V. Bawle> ;American Journal of Medical Genetics. Part A. 2004 Sep 1
• 42 citations
  Medulloblastoma with adverse reaction to radiation therapy in nijmegen breakage syndrome
  Sameer Bakhshi, Karen M. Cerosaletti, Patrick Concannon, Erawati V. Bawle, James Fontanesi, Richard A. Gatti, Kanta Bhambhani> ;Journal of Pediatric Hematology/oncology. 2003 Mar 1
• 8 citations
  D-2-Hydroxyglutaric aciduria with absence of corpus callosum and neonatal intracranial haemorrhage.
  X Wang, C. Jakobs, E. V. Bawle> ;Journal of Inherited Metabolic Disease. 2003 Jan 1
• 9 citations
  Arginine deficiency-induced hyperammonemia in a home total parenteral nutrition-dependent patient: a case report.
  Shikha Kapila, May Saba, Chuan-Hao Lin, Erawati V. Bawle> ;JPEN. Journal of Parenteral and Enteral Nutrition. 2001 Sep 1
• 13 citations
  Analphoid 3qter markers.
  Ikuko Teshima, Erawati V. Bawle, Rosanna Weksberg, Cheryl Shuman, Daniel L. Van Dyke, Stuart Schwartz> ;American Journal of Medical Genetics. 2000 Sep 11
• 1 citations
  Physiologic Osteoscierosis Versus Osteopetrosis of the Newborn
  Samina Z. Nadvi, Sam R. Kottamasu, Erawati V. Bawle, E. Abella> ;Clinical Pediatrics. 1999 May 1
• 18 citations
  Seven new cases of Cayler cardiofacial syndrome with chromosome 22q11.2 deletion, including a familial case.
  Erawati V. Bawle, Joan V. Conard, Daniel L. Van Dyke, Paula Czarnecki, Deborah A. Driscoll> ;American Journal of Medical Genetics. 1998 Oct 12
• 88 citations
  Adult and two children with fetal methotrexate syndrome
  Erawati V. Bawle, Joan V. Conard, L. Weiss> ;Teratology. 1998 Feb 1
• 73 citations
  Hearing, language, speech, vestibular, and dentofacial disorders in fetal alcohol syndrome.
  Michael W. Church, Frances Eldis, Brian W. Blakley, Erawati V. Bawle> ;Alcoholism, Clinical and Experimental Research. 1997 Apr 1
• 6 citations
  Modulation of B12 Dosage and Response in Fetal Treatment of Methylmalonic Aciduria (MMA): Titration of Treatment Dose to Serum and Urine MMA
  Mark I. Evans, Debra Duquette, Piero Rinaldo, Erawati V. Bawle, David S. Rosenblatt, Janice Whitty, Ruben A. Quintero, Mark P. Johnson> ;Fetal Diagnosis and Therapy. 1997 Jan 1
• 7 citations
  The genetic implication for preceding generations of the prenatal diagnosis of interrupted aortic arch in association with unsuspected DiGeorge anomaly
  Karoline S. Puder, Richard A. Humes, Robin L. Gold, Erawati V. Bawle, Gregory L. Goyert> ;American Journal of Obstetrics and Gynecology. 1995 Jul 1
• 9 citations
  Familial infantile olivopontocerebellar atrophy
  Erawati V. Bawle, William J. Kupsky, Constance J. D'Amato, Cristie Becker, Sam Hicks> ;Pediatric Neurology. 1995 Jul 1
• Join now to see all