Hanna Mandel

Hanna Mandel publication distribution in Biology and Biochemistry in 2026

The chart shows the distribution of publications by all Research.com ranked scientists in the field of Biology and Biochemistry in 2026. The highlighted bar marks where Hanna Mandel sits on this spectrum.

Hanna Mandel D-index placement in Biology and Biochemistry in 2026

The chart shows the D-index (discipline H-index) distribution of Biology and Biochemistry scientists ranked by Research.com in 2026. The highlighted bar marks where Hanna Mandel sits on this spectrum.

Best Publications

• Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy

  Ann Saada;Avraham Shaag;Hanna Mandel;Yoram Nevo

  699
  Citations

• A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease

  Priya S. Kishnani;Wuh-Liang Hwu;Hanna Mandel;Marc Nicolino

  652
  Citations

• The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA.

  Hanna Mandel;Raymonde Szargel;Valentina Labay;Orly Elpeleg

  640
  Citations

• Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants.

  Priya S. Kishnani;Paula C. Goldenberg;Stephanie L. Dearmey;James Heller

  434
  Citations

• Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision

  Johannes Häberle;Alberto Burlina;Anupam Chakrapani;Marjorie Dixon

  363
  Citations

• Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome

  P Gissen;P Gissen;C A Johnson;N Morgan;J M Stapelbroek

  359
  Citations

• Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease

  Marc Nicolino;Barry Byrne;J. E. Wraith;Nancy Leslie

  347
  Citations

• Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness

  Valentina Labay;Tal Raz;Dana Baron;Hanna Mandel

  311
  Citations

• Early Treatment with Alglucosidase Alfa Prolongs Long Term Survival of Infants with Pompe Disease

  Priya S. Kishnani;Deya Corzo;Nancy D. Leslie;Daniel Gruskin

  268
  Citations

• SERKAL Syndrome: An Autosomal-Recessive Disorder Caused by a Loss-of-Function Mutation in WNT4

  Hannah Mandel;Revital Shemer;Revital Shemer;Zvi U. Borochowitz;Marina Okopnik

  264
  Citations

• Acute Infantile Liver Failure Due to Mutations in the TRMU Gene

  Avraham Zeharia;Avraham Shaag;Orit Pappo;Anne-Marie Mager-Heckel

  257
  Citations

• Mitochondrial Hsp60 Chaperonopathy Causes an Autosomal-Recessive Neurodegenerative Disorder Linked to Brain Hypomyelination and Leukodystrophy

  Daniella Magen;Costa Georgopoulos;Peter Bross;Debbie Ang

  253
  Citations

• A Mutation in SNAP29, Coding for a SNARE Protein Involved in Intracellular Trafficking, Causes a Novel Neurocutaneous Syndrome Characterized by Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma

  Eli Sprecher;Akemi Ishida-Yamamoto;Mordechai Mizrahi-Koren;Debora Rapaport

  247
  Citations

• Ethylmalonic Encephalopathy Is Caused by Mutations in ETHE1, a Gene Encoding a Mitochondrial Matrix Protein

  Valeria Tiranti;Pio D'Adamo;Egill Briem;Gianfrancesco Ferrari

  237
  Citations

• Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy.

  Loeffen J;Elpeleg O;Smeitink J;Smeets R

  226
  Citations

• Methods for a prompt and reliable laboratory diagnosis of Pompe disease: Report from an international consensus meeting

  B. Winchester;D. Bali;O.A. Bodamer;C. Caillaud

  205
  Citations

• Stem cell transplantation in patients with severe congenital neutropenia without evidence of leukemic transformation.

  C Zeidler;K Welte;Y Barak;F Barriga

  187
  Citations

• Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization

  Andrew R Cullinane;Anna Straatman-Iwanowska;Andreas Zaucker;Yoshiyuki Wakabayashi

  183
  Citations

• Clinical presentation and outcome in a series of 88 patients with the cblC defect

  Sabine Fischer;Martina Huemer;Matthias Baumgartner;Federica Deodato

  175
  Citations

• Amnionless, essential for mouse gastrulation, is mutated in recessive hereditary megaloblastic anemia

  Stephan M. Tanner;Maria Aminoff;Fred A. Wright;Sandya Liyanarachchi

  165
  Citations