Lina Basel-Vanagaite

Lina Basel-Vanagaite publication distribution in Genetics in 2026

The chart shows the distribution of publications by all Research.com ranked scientists in the field of Genetics in 2026. The highlighted bar marks where Lina Basel-Vanagaite sits on this spectrum.

Lina Basel-Vanagaite D-index placement in Genetics in 2026

The chart shows the D-index (discipline H-index) distribution of Genetics scientists ranked by Research.com in 2026. The highlighted bar marks where Lina Basel-Vanagaite sits on this spectrum.

Overview

Best Publications

• Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible.

  Bernward Hinkes;Roger C. Wiggins;Rasheed Gbadegesin;Christopher N. Vlangos

  647
  Citations

• G protein-coupled receptor-dependent development of human frontal cortex.

  Xianhua Piao;Sean S. Hill;Adria Bodell;Bernard S. Chang

  560
  Citations

• Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.

  Uwe Kornak;Ellen Reynders;Aikaterini Dimopoulou;Jeroen Van Reeuwijk

  420
  Citations

• tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.

  Birgit S. Budde;Yasmin Namavar;Peter G. Barth;Bwee Tien Poll-The

  265
  Citations

• De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy

  Lieve Claes;Berten Ceulemans;Dominique Audenaert;Katrien Smets

  265
  Citations

• Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia

  Yasmin Namavar;Peter G. Barth;Paul R. Kasher;Fred van Ruissen

  245
  Citations

• Dominant mutations in GRHL3 cause Van der Woude syndrome and disrupt oral periderm development

  Myriam Peyrard-Janvid;Elizabeth J. Leslie;Youssef A. Kousa;Tiffany L. Smith

  223
  Citations

• Fragile-X carrier screening and the prevalence of premutation and full-mutation carriers in Israel.

  Hagit Toledano-Alhadef;Lina Basel-Vanagaite;Nurit Magal;Bella Davidov

  216
  Citations

• The CC2D1A , a member of a new gene family with C2 domains, is involved in autosomal recessive non-syndromic mental retardation

  Lina Basel-Vanagaite;Revital Attia;Michal Yahav;Russell J. Ferland

  213
  Citations

• Autosomal Recessive Ichthyosis with Hypotrichosis Caused by a Mutation in ST14, Encoding Type II Transmembrane Serine Protease Matriptase

  Lina Basel-Vanagaite;Lina Basel-Vanagaite;Revital Attia;Akemi Ishida-Yamamoto;Limor Rainshtein

  206
  Citations

• Twenty-two novel mutations in the lysosomal alpha-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II.

  Monique M.P. Hermans;Dik van Leenen;Marian A. Kroos;Clare E. Beesley

  192
  Citations

• Mutations in PIK3R1 Cause SHORT Syndrome

  David A. Dyment;Amanda C. Smith;Diana Alcantara;Jeremy A. Schwartzentruber

  182
  Citations

• A Truncating Mutation of TRAPPC9 Is Associated with Autosomal-Recessive Intellectual Disability and Postnatal Microcephaly

  Ganeshwaran H. Mochida;Muhammad Mahajnah;Muhammad Mahajnah;Anthony D. Hill;Lina Basel-Vanagaite;Lina Basel-Vanagaite

  179
  Citations

• Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN

  Gal Maydan;Iris Noyman;Adi Har-Zahav;Ziva Ben Neriah

  175
  Citations

• Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis.

  Lina Basel-Vanagaite;Lina Basel-Vanagaite;Liora Muncher;Rachel Straussberg;Metsada Pasmanik-Chor

  170
  Citations

• Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival

  Vishwanathan Hucthagowder;Eva Morava;Uwe Kornak;Dirk J. Lefeber

  166
  Citations

• Exome sequencing reveals SYCE1 mutation associated with autosomal recessive primary ovarian insufficiency.

  Liat de Vries;Liat de Vries;Doron M. Behar;Doron M. Behar;Pola Smirin-Yosef;Irina Lagovsky

  152
  Citations

• Bilateral frontoparietal polymicrogyria: clinical and radiological features in 10 families with linkage to chromosome 16.

  Bernard S. Chang;Xianhua Piao;Adria Bodell;Lina Basel-Vanagaite

  142
  Citations

• De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms.

  Karin Weiss;Paulien A. Terhal;Lior Cohen;Lior Cohen;Michael Bruccoleri

  138
  Citations

• Mutation Spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and Genotype–Phenotype Correlations in Warburg Micro Syndrome and Martsolf Syndrome

  Mark T Handley;Deborah J Morris-Rosendahl;Stephen Brown;Fiona Macdonald

  132
  Citations