Maha S. Zaki

Overview

Best Publications

• Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

  Yanick J. Crow;Diana S. Chase;Johanna Lowenstein Schmidt;Marcin Szynkiewicz

  638
  Citations

• Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.

  Gaia Novarino;Ali G. Fenstermaker;Maha S. Zaki;Matan Hofree

  602
  Citations

• Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study

  Gillian I Rice;Gabriella M A Gm Forte;Marcin Szynkiewicz;Diana S Chase

  475
  Citations

• Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies.

  Stephanie L Bielas;Jennifer L Silhavy;Francesco Brancati;Francesco Brancati;Marina V Kisseleva

  425
  Citations

• Exome Sequencing Can Improve Diagnosis and Alter Patient Management

  Tracy J. Dixon-Salazar;Jennifer L. Silhavy;Nitin Udpa;Jana Schroth

  299
  Citations

• Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome

  Alicia Guemez-Gamboa;Long N Nguyen;Hongbo Yang;Maha S Zaki

  234
  Citations

• Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia

  Christelle Tesson;Magdalena Nawara;Magdalena Nawara;Magdalena Nawara;Mustafa A.M. Salih;Rodrigue Rossignol

  219
  Citations

• CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium

  Ji Eun Lee;Jennifer L Silhavy;Maha S Zaki;Jana Schroth

  205
  Citations

• Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome

  Madeline A Lancaster;Dipika J Gopal;Joon Kim;Sahar N Saleem

  173
  Citations

• AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders

  Enza Maria Valente;Francesco Brancati;Francesco Brancati;Francesco Brancati;Jennifer L. Silhavy;Marco Castori

  153
  Citations

• Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria

  Mary C. O'Driscoll;Sarah B. Daly;Jill E. Urquhart;Graeme C.M. Black

  150
  Citations

• Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction.

  Naiara Akizu;Vincent Cantagrel;Maha S Zaki;Lihadh Al-Gazali

  144
  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

• Mutations in EOGT Confirm the Genetic Heterogeneity of Autosomal-Recessive Adams-Oliver Syndrome

  Ranad Shaheen;Mona Aglan;Kim Keppler-Noreuil;Eissa Faqeih

  126
  Citations

• Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly.

  Di Donato N;Timms Ae;Aldinger Ka;Mirzaa Gm;Mirzaa Gm

  125
  Citations

• Mutations in KATNB1 Cause Complex Cerebral Malformations by Disrupting Asymmetrically Dividing Neural Progenitors

  Ketu Mishra-Gorur;Ahmet Okay Çağlayan;Ashleigh E. Schaffer;Chiswili Chabu;Chiswili Chabu

  123
  Citations

• AMPD2 Regulates GTP Synthesis and Is Mutated in a Potentially Treatable Neurodegenerative Brainstem Disorder

  Naiara Akizu;Vincent Cantagrel;Jana Schroth;Na Cai

  118
  Citations

• Mutations in LAMB1 Cause Cobblestone Brain Malformation without Muscular or Ocular Abnormalities

  Farid Radmanesh;Ahmet Okay Caglayan;Jennifer L. Silhavy;Jennifer L. Silhavy;Cahide Yilmaz

  113
  Citations

• Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome

  Susanne Roosing;Matan Hofree;Sehyun Kim;Eric Scott

  105
  Citations

• Identification of a novel recessive RELN mutation using a homozygous balanced reciprocal translocation

  Maha Zaki;Marwa Shehab;Alice Abd El-Aleem;Ghada Abdel-Salam

  103
  Citations