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Items: 20

1.
Evolutionarily Assembled cis-Regulatory Module at a Human Ciliopathy Locus
Jeong Ho Lee, Jennifer L. Silhavy, Ji Eun Lee, Lihadh Al-Gazali, Sophie Thomas, Erica E. Davis, Stephanie L. Bielas, Kiley J. Hill, Miriam Iannicelli, Francesco Brancati, Stacey B. Gabriel, Carsten Russ, Clare V. Logan, Saghira Malik Sharif, Christopher P. Bennett, Masumi Abe, Friedhelm Hildebrandt, Bill H. Diplas, Tania Attié-Bitach, Nicholas Katsanis, Anna Rajab, Roshan Koul, Laszlo Sztriha, Elizabeth R. Waters, Susan Ferro-Novick, C. Geoffrey Woods, Colin A. Johnson, Enza Maria Valente, Maha S. Zaki, Joseph G. Gleeson
Science. Author manuscript; available in PMC 2013 Jun 4.
Published in final edited form as: Science. 2012 Feb 24; 335(6071): 966–969. Published online 2012 Jan 26. doi: 10.1126/science.1213506
PMCID:
PMC3671610
AbstractArticlePDF–1.6M
2.
Allelic Heterogeneity in the COH1 Gene Explains Clinical Variabilityin Cohen Syndrome
Hans Christian Hennies, Anita Rauch, Wenke Seifert, Christian Schumi, Elisabeth Moser, Eva Al-Taji, Gholamali Tariverdian, Krystyna H. Chrzanowska, Malgorzata Krajewska-Walasek, Anna Rajab, Roberto Giugliani, Thomas E. Neumann, Katja M. Eckl, Mohsen Karbasiyan, André Reis, Denise Horn
Am J Hum Genet. 2004 Jul; 75(1): 138–145. Published online 2004 May 20. doi: 10.1086/422219
PMCID:
PMC1181997
AbstractArticlePDF–343K
3.
Escobar Syndrome Is a Prenatal Myasthenia Caused by Disruption of the Acetylcholine Receptor Fetal γ Subunit
Katrin Hoffmann, Juliane S. Müller, Sigmar Stricker, Andre Megarbane, Anna Rajab, Tom H. Lindner, Monika Cohen, Eliane Chouery, Lynn Adaimy, Ismat Ghanem, Valerie Delague, Eugen Boltshauser, Beril Talim, Rita Horvath, Peter N. Robinson, Hanns Lochmüller, Christoph Hübner, Stefan Mundlos
Am J Hum Genet. 2006 Aug; 79(2): 303–312. Published online 2006 Jun 20. doi: 10.1086/506257
PMCID:
PMC1559482
AbstractArticlePDF–3.3M
4.
An Autosomal Recessive Form of Spastic Cerebral Palsy (CP) with Microcephaly and Mental Retardation
Anna Rajab, Seung-Yun Yoo, Aiman Abdulgalil, Salem Kathiri, Riaz Ahmed, Ganeshwaran H. Mochida, Adria Bodell, A. James Barkovich, Christopher A. Walsh
Am J Med Genet A. Author manuscript; available in PMC 2008 Oct 27.
Published in final edited form as: Am J Med Genet A. 2006 Jul 15; 140(14): 1504–1510. doi: 10.1002/ajmg.a.31288
PMCID:
PMC2573996
AbstractArticlePDF–529K
5.
RPGRIP1L mutations are mainly associated with the cerebellorenal phenotype of Joubert Syndrome Related Disorders
Francesco Brancati, Lorena Travaglini, Dominika Zablocka, Eugen Boltshauser, Patrizia Accorsi, Giorgia Montagna, Jennifer L. Silhavy, Giuseppe Barrano, Enrico Bertini, Francesco Emma, Luciana Rigoli, The International JSRD Study Group, Bruno Dallapiccola, Joseph G Gleeson, Enza Maria Valente
Clin Genet. Author manuscript; available in PMC 2009 Sep 27.
Published in final edited form as: Clin Genet. 2008 Aug; 74(2): 164–170. Published online 2008 Jun 28. doi: 10.1111/j.1399-0004.2008.01047.x
PMCID:
PMC2752690
AbstractArticlePDF–198K
6.
Recessive Developmental Delay, Small Stature, Microcephaly and Brain Calcifications with Locus on Chromosome 2
Anna Rajab, Kimberly A. Aldinger, Hisham Ali El-Shirbini, William B. Dobyns, M. Elizabeth Ross
Am J Med Genet A. Author manuscript; available in PMC 2010 Feb 1.
Published in final edited form as: Am J Med Genet A. 2009 Feb; 149A(2): 129–137. doi: 10.1002/ajmg.a.32630
PMCID:
PMC2800951
AbstractArticlePDF–746K
7.
Fatal Cardiac Arrhythmia and Long-QT Syndrome in a New Form of Congenital Generalized Lipodystrophy with Muscle Rippling (CGL4) Due to PTRF-CAVIN Mutations
Anna Rajab, Volker Straub, Liza J. McCann, Dominik Seelow, Raymonda Varon, Rita Barresi, Anne Schulze, Barbara Lucke, Susanne Lützkendorf, Mohsen Karbasiyan, Sebastian Bachmann, Simone Spuler, Markus Schuelke
PLoS Genet. 2010 Mar; 6(3): e1000874. Published online 2010 Mar 12. doi: 10.1371/journal.pgen.1000874
PMCID:
PMC2837386
AbstractArticlePDF–5.3M
8.
Novel TMEM67 Mutations and Genotype-phenotype Correlates in Meckelin-related Ciliopathies
Miriam Iannicelli, Francesco Brancati, Soumaya Mougou-Zerelli, Annalisa Mazzotta, Sophie Thomas, Nadia Elkhartoufi, Lorena Travaglini, Céline Gomes, Gian Luigi Ardissino, Enrico Bertini, Eugen Boltshauser, Pierangela Castorina, Stefano D'Arrigo, Rita Fischetto, Brigitte Leroy, Philippe Loget, Maryse Bonnière, Lena Starck, Julia Tantau, Barbara Gentilin, Silvia Majore, Dominika Swistun, Elizabeth Flori, Faustina Lalatta, Chiara Pantaleoni, Johannes.Penzien, Paola Grammatico, the International JSRD Study Group, Bruno Dallapiccola, Joseph G. Gleeson, Tania Attie-Bitach, Enza Maria Valente
Hum Mutat. Author manuscript; available in PMC 2011 May 1.
Published in final edited form as: Hum Mutat. 2010 May; 31(5): E1319–E1331. doi: 10.1002/humu.21239
PMCID:
PMC2918781
AbstractArticlePDF–166K
9.
A large-scale mutation search reveals genetic heterogeneity in 3M syndrome
Céline Huber, Anee-Lise Delezoide, Fabien Guimiot, Clarisse Baumann, Valérie Malan, Martine Le Merrer, Daniela Bezerra Da Silva, Dominique Bonneau, Pierre Chatelain, Carol Chu, Robin Clark, Helen Cox, Patrick Edery, Thomas Edouard, Virginia Fano, Kate Gibson, Gabriele Gillessen-Kaesbach, Maria-Luisa Giovannucci-Uzielli, Luitgard Margarete Graul-Neumann, Johana-Maria van Hagen, Liselot van Hest, Dafne Horovitz, Judith Melki, Carl-Joachim Partsch, Henry Plauchu, Anna Rajab, Massimiliano Rossi, David Sillence, Elisabeth Steichen-Gersdorf, Helen Stewart, Sheila Unger, Martin Zenker, Arnold Munnich, Valérie Cormier-Daire
Eur J Hum Genet. 2009 Mar; 17(3): 395–400. Published online 2008 Oct 29. doi: 10.1038/ejhg.2008.200
PMCID:
PMC2986175
AbstractArticlePDF–203K
10.
Developmental and Degenerative Features in a Complicated Spastic Paraplegia
M Chiara Manzini, Anna Rajab, Thomas M Maynard, Ganeshwaran H Mochida, Wen-Hann Tan, Ramzi Nasir, R Sean Hill, Danielle Gleason, Muna Al Saffar, Jennifer N Partlow, Brenda J Barry, Mike Vernon, Anthony-Samuel LaMantia, Christopher A Walsh
Ann Neurol. 2010 Apr; 67(4): 516–525. Published online 2009 Nov 30. doi: 10.1002/ana.21923
PMCID:
PMC3027847
AbstractArticlePDF–560K
11.
Novel Protein–Protein Interactions Highlighting the Crosstalk between Hypoplastic Left Heart Syndrome, Ciliopathies and Neurodevelopmental Delays
Kalyani B. Karunakaran, George C. Gabriel, Narayanaswamy Balakrishnan, Cecilia W. Lo, Madhavi K. Ganapathiraju
Genes (Basel) 2022 Apr; 13(4): 627. Published online 2022 Apr 1. doi: 10.3390/genes13040627
PMCID:
PMC9032108
AbstractArticlePDF–3.5M
12.
Mutations in DDX59 Implicate RNA Helicase in the Pathogenesis of Orofaciodigital Syndrome
Hanan E. Shamseldin, Anna Rajab, Amal Alhashem, Ranad Shaheen, Tarfa Al-Shidi, Rana Alamro, Salma Al Harassi, Fowzan S. Alkuraya
Am J Hum Genet. 2013 Sep 5; 93(3): 555–560. doi: 10.1016/j.ajhg.2013.07.012
PMCID:
PMC3769930
AbstractArticlePDF–1.3M
13.
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders
Lorena Travaglini, Francesco Brancati, Jennifer Silhavy, Miriam Iannicelli, Elizabeth Nickerson, Nadia Elkhartoufi, Eric Scott, Emily Spencer, Stacey Gabriel, Sophie Thomas, Bruria Ben-Zeev, Enrico Bertini, Eugen Boltshauser, Malika Chaouch, Maria Roberta Cilio, Mirjam M de Jong, Hulya Kayserili, Gonul Ogur, Andrea Poretti, Sabrina Signorini, Graziella Uziel, Maha S Zaki, the International JSRD Study Group, Colin Johnson, Tania Attié-Bitach, Joseph G Gleeson, Enza Maria Valente
Eur J Hum Genet. 2013 Oct; 21(10): 1074–1078. Published online 2013 Feb 6. doi: 10.1038/ejhg.2012.305
PMCID:
PMC3778343
AbstractArticlePDF–471K
14.
Expanding CEP290 mutational spectrum in ciliopathies
Lorena Travaglini, Francesco Brancati, Tania Attie-Bitach, Sophie Audollent, Enrico Bertini, Josseline Kaplan, Isabelle Perrault, Miriam Iannicelli, Brunella Mancuso, Luciana Rigoli, Jean-Michel Rozet, Dominika Swistun, Jerlyn Tolentino, The International JSRD Study Group, Bruno Dallapiccola, Joseph G. Gleeson, Enza Maria Valente
Am J Med Genet A. Author manuscript; available in PMC 2015 Feb 25.
Published in final edited form as: Am J Med Genet A. 2009 Oct; 0(10): 2173–2180. doi: 10.1002/ajmg.a.33025
PMCID:
PMC4340070
AbstractArticlePDF–328K
15.
Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination
Tojo Nakayama, Almundher Al-Maawali, Malak El-Quessny, Anna Rajab, Samir Khalil, Joan M. Stoler, Wen-Hann Tan, Ramzi Nasir, Klaus Schmitz-Abe, R. Sean Hill, Jennifer N. Partlow, Muna Al-Saffar, Sarah Servattalab, Christopher M. LaCoursiere, Dimira E. Tambunan, Michael E. Coulter, Princess C. Elhosary, Grzegorz Gorski, A. James Barkovich, Kyriacos Markianos, Annapurna Poduri, Ganeshwaran H. Mochida
Am J Hum Genet. 2015 May 7; 96(5): 709–719. doi: 10.1016/j.ajhg.2015.03.003
PMCID:
PMC4570282
AbstractArticlePDF–1.5M
16.
Novel Loss-of-Function Variants in DIAPH1 Associated With Syndromic Microcephaly, Blindness, and Early Onset Seizures
Almundher Al-Maawali, Brenda J. Barry, Anna Rajab, Malak El-Quessny, Ann Seman, Stephanie Newton Coury, A. James Barkovich, Edward Yang, Christopher A. Walsh, Ganeshwaran H. Mochida, Joan M. Stoler
Am J Med Genet A. Author manuscript; available in PMC 2017 Feb 17.
Published in final edited form as: Am J Med Genet A. 2016 Feb; 170A(2): 435–440. Published online 2015 Oct 13. doi: 10.1002/ajmg.a.37422
PMCID:
PMC5315085
AbstractArticlePDF–341K
17.
Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function
Atteeq U. Rehman, Maryam Najafi, Marios Kambouris, Lihadh Al‐Gazali, Periklis Makrythanasis, Abolfazl Rad, Reza Maroofian, Anna Rajab, Zornitza Stark, Jill V. Hunter, Zeineb Bakey, Mari J. Tokita, Weimin He, Francesco Vetrini, Andrea Petersen, Federico A. Santoni, Hanan Hamamy, Kaman Wu, Fatma Al‐Jasmi, Martin Helmstädter, Sebastian J. Arnold, Fan Xia, Christopher Richmond, Pengfei Liu, Ehsan Ghayoor Karimiani, GholamReza Karami Madani, Sebastian Lunke, Hatem El‐Shanti, Christine M. Eng, Stylianos E. Antonarakis, Jozef Hertecant, Magdalena Walkiewicz, Yaping Yang, Miriam Schmidts
Hum Mutat. 2019 Mar; 40(3): 267–280. Published online 2018 Dec 25. doi: 10.1002/humu.23694
PMCID:
PMC6370506
AbstractArticlePDF–1.4M
18.
Clinical and genetic analysis of two wolfram syndrome families with high occurrence of wolfram syndrome and diabetes type II: a case report
Maryam Sobhani, Mohammad Amin Tabatabaiefar, Soudeh Ghafouri-Fard, Asadollah Rajab, Asal Hojjat, Abdol-Mohammad Kajbafzadeh, Mohammad Reza Noori-Daloii
BMC Med Genet. 2020; 21: 13. Published online 2020 Jan 14. doi: 10.1186/s12881-020-0950-4
Correction in:
BMC Med Genet. 2020; 21: 58.
PMCID:
PMC6961406
AbstractArticlePDF–1.1M
19.
Viral respiratory infections among Hajj pilgrims in 2013
Osamah Barasheed, Harunor Rashid, Mohammad Alfelali, Mohamed Tashani, Mohammad Azeem, Hamid Bokhary, Nadeen Kalantan, Jamil Samkari, Leon Heron, Jen Kok, Janette Taylor, Haitham El Bashir, Ziad A. Memish, Elizabeth Haworth, Edward C. Holmes, Dominic E. Dwyer, Atif Asghar, Robert Booy, Hajj Research Team
Virol Sin. 2014 Dec; 29(6): 364–371. Published online 2014 Nov 14. doi: 10.1007/s12250-014-3507-x
PMCID:
PMC7090649
AbstractArticlePDF–527K
20.
Genetic disruption of WASHC4 drives endo-lysosomal dysfunction and cognitive-movement impairments in mice and humans
Jamie L Courtland, Tyler WA Bradshaw, Greg Waitt, Erik J Soderblom, Tricia Ho, Anna Rajab, Ricardo Vancini, Il Hwan Kim, Scott H Soderling
eLife. 2021; 10: e61590. Published online 2021 Mar 22. doi: 10.7554/eLife.61590
PMCID:
PMC7984842
AbstractArticlePDF–7.5M

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