LeighAFloreMD

PubMed

• Intracranial Germinoma in Two Caucasian American Siblings With Autism Spectrum Disorder.
  Toll, S., Flore, L., Gorsi, H., Marupudi, N., Mody, S., Wang, Z., Kupsky, W.> ;Journal of Pediatric Hematology/oncology. 2024 Mar 1
• Clinical, biochemical and molecular characterization of 12 patients with pyruvate carboxylase deficiency treated with triheptanoin.
  M Laura Duque Lasio, Angela C Leshinski, Leigh Anne Flore, April Lehman, Natasha Shur, Parul B Jayakar, Bryan E Hainline, Alice A Basinger, William G Wilson, George A ...> ;Molecular Genetics and Metabolism. 2023 Jun 1
• 2 citations
  Familial neonatal nonautoimmune hyperthyroidism due to a gain-of-function (D619G) thyrotropin-receptor mutation
  Doris Taha, Amita Adhikari, Leigh Anne Flore> ;Journal of Pediatric Endocrinology & Metabolism. 2021 Feb 1
• 7 citations
  Distinctive phenotypes in two children with novel germline RUNX1 mutations - one with myeloid malignancy and increased fetal hemoglobin.
  Shruti Bagla, Katherine Regling, Erin Wakeling, Manisha Gadgeel, Steven Buck, Ahmar U. Zaidi, Leigh Anne Flore, Michael Chicka, Charles A. Schiffer, Meera Chitlur, Yad...> ;Pediatric Hematology and Oncology. 2021 Jan 2
• 6 citations
  A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome.
  Shereen G. Ghosh, Marcello Scala, Christian Beetz, Guy Helman, Valentina Stanley, Xiaoxu Yang, Martin W. Breuss, Neda Mazaheri, Laila Selim, Fatemeh Hadipour, Lynn Pai...> ;European Journal of Human Genetics. 2021 Feb 1
• 33 citations
  MPV17‐related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects
  Ayman W. El-Hattab, Julia Wang, Hongzheng Dai, Mohammed Almannai, Christian Staufner, Majid Alfadhel, Michael J. Gambello, Pankaj Prasun, Saleem Raza, Hernando Lyons, ...> ;Human Mutation. 2018 Apr 1
• 151 citations
  Coffin–Siris Syndrome and the BAF Complex: Genotype–Phenotype Study in 63 Patients
  , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , > ;Human Mutation. 2013 Nov 1
• 7 citations
  Mitochondrial encoded NADH dehydrogenase 5 (MT-ND5) gene point mutation presents as late onset cardiomyopathy.
  Nir Ayalon, Leigh Anne Flore, Thomas G. Christensen, Flora Sam> ;International Journal of Cardiology. 2013 Sep 1
• 45 citations
  Updates in the Genetic Evaluation of the Child with Global Developmental Delay or Intellectual Disability
  Leigh Anne Flore, Jeff M. Milunsky> ;Seminars in Pediatric Neurology. 2012 Dec 1
• 2 citations
  RASA1 analysis guides management in a family with capillary malformation-arteriovenous malformation.
  Leigh Anne Flore, Eyby Leon, Tom A. Maher, Jeff M. Milunsky> ;Journal of Pediatric Genetics. 2012 Jun 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
• 14 citations
  Prenatal Diagnosis of Smith-Magenis Syndrome (del 17p11.2)
  Dafydd G. Thomas, Suzanne M. Jacques, Leigh Anne Flore, Baruch Feldman, Mark I. Evans, Faisal Qureshi> ;Fetal Diagnosis and Therapy. 2000 Dec 1
• 8 citations
  Rapid confirmation of previously detected prenatal mosaicism by fluorescence in situ hybridization in interphase uncultured amniocytes.
  Baruch Feldman, Salah A.D. Ebrahim, Ko Gyi, Leigh Anne Flore, Mark I. Evans> ;Genetic Testing. 2000 Jan 1
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