Lina Basel-Vanagaite

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