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T. Shaikh · SciRah

Researcher profile · Semantic Scholar

T. Shaikh

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T. Shaikh — researcher profile on SciRah

h-index: 45
Works: 94
Citations: 9,107

Most-cited papers

Microduplications of 16p11.2 are Associated with Schizophrenia
S. Mccarthy, Vladimir Makarov, G. Kirov, A. Addington +68 more
2009Nature Genetics734 citations Open access
Semantic Scholar
A recurrent 16p12.1 microdeletion suggests a two-hit model for severe developmental delay
S. Girirajan, J. Rosenfeld, Gregory M. Cooper, F. Antonacci +55 more
2010Nature Genetics598 citations Open access
Semantic Scholar
Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis.
T. Shaikh, Hiroki Kurahashi, S. Saitta, Ann M. O'Hare +7 more
2000Human Molecular Genetics538 citations Open access
Semantic Scholar
Genomic and Genic Deletions of the FOX Gene Cluster on 16q24.1 and Inactivating Mutations of FOXF1 Cause Alveolar Capillary Dysplasia and Other Malformations
P. Stankiewicz, P. Sen, S. Bhatt, M. Storer +40 more
2009American Journal of Human Genetics434 citations Open access
Semantic Scholar
Concept, Design and Implementation of a Cardiovascular Gene-Centric 50 K SNP Array for Large-Scale Genomic Association Studies
B. Keating, Sam Tischfield, S. Murray, T. Bhangale +56 more
2008PLoS ONE432 citations Open access
Semantic Scholar
High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications.
T. Shaikh, X. Gai, J. Perin, J. Glessner +33 more
2009Genome Research376 citations Open access
Semantic Scholar
Copy number variation at 1q21.1 associated with neuroblastoma
Sharon J. Diskin, C. Hou, J. Glessner, E. Attiyeh +23 more
2009Nature367 citations Open access
Semantic Scholar
African origin of human-specific polymorphic Alu insertions.
M. Batzer, M. Stoneking, M. Alegria-Hartman, H. A. Bazan +6 more
1994Proceedings of the National Academy of Sciences of the United States of America332 citations Open access
Semantic Scholar
Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes
J. Elia, X. Gai, H.-M. Xie, J. Perin +17 more
2010Molecular Psychiatry315 citations Open access
Semantic Scholar
Segmental duplications: an 'expanding' role in genomic instability and disease
B. Emanuel, T. Shaikh
2001Nature reviews genetics295 citations
Semantic Scholar
Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes
J. Elia, X. Gai, H.-M. Xie, J. Perin +17 more
2009Molecular Psychiatry280 citations Open access
Semantic Scholar
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes
Pamela Feliciano, Xue-Ya Zhou, Irina Astrovskaya, Tychele N. Turner +220 more
2019npj Genomic Medicine243 citations Open access
Semantic Scholar
Discovery of a previously unrecognized microdeletion syndrome of 16p11.2–p12.2
B. Ballif, Sara A Hornor, E. Jenkins, Suneeta Madan-Khetarpal +15 more
2007Nature Genetics210 citations
Semantic Scholar
Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5.
Peter R Baker, Marisa W. Friederich, Michael A. Swanson, T. Shaikh +25 more
2014Brain : a journal of neurology205 citations Open access
Semantic Scholar
Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome
M. Hannibal, K. Buckingham, Sarah B. H. Ng, J. Ming +32 more
2011American Journal of Medical Genetics. Part A200 citations Open access
Semantic Scholar
Structure and variability of recently inserted Alu family members.
M. Batzer, G. Kilroy, Pamela E. Richard, T. Shaikh +3 more
1990Nucleic Acids Research186 citations Open access
Semantic Scholar
Genomic analysis using high density SNP based oligonucleotide arrays and MLPA provides a comprehensive analysis of INI1/SMARCB1 in malignant rhabdoid tumors
Eric M. Jackson, Angela J. Sievert, X. Gai, H. Hakonarson +6 more
2009Clinical Cancer Research182 citations Open access
Semantic Scholar
Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development.
P. V. van Laarhoven, Leif R. Neitzel, Anita M. Quintana, E. Geiger +5 more
2015Human Molecular Genetics178 citations Open access
Semantic Scholar
The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome
L. Shaffer, A. Theisen, B. Bejjani, B. Ballif +7 more
2007Genetics in Medicine166 citations Open access
Semantic Scholar
Evolutionarily conserved low copy repeats (LCRs) in 22q11 mediate deletions, duplications, translocations, and genomic instability: An update and literature review
T. Shaikh, H. Kurahashi, B. Emanuel
2001Genetics in Medicine144 citations Open access
Semantic Scholar
Regions of genomic instability on 22q11 and 11q23 as the etiology for the recurrent constitutional t(11;22).
Hiroki Kurahashi, T. Shaikh, P. Hu, B. Roe +2 more
2000Human Molecular Genetics143 citations
Semantic Scholar
An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1.
Hung-Chun Yu, J. Sloan, G. Scharer, Alison Brebner +14 more
2013American Journal of Human Genetics133 citations Open access
Semantic Scholar
Low copy repeats mediate distal chromosome 22q11.2 deletions: sequence analysis predicts breakpoint mechanisms.
T. Shaikh, Ronald J. O'Connor, M. Pierpont, J. Mcgrath +5 more
2007Genome Research128 citations Open access
Semantic Scholar
The constitutional t(17;22): another translocation mediated by palindromic AT-rich repeats.
H. Kurahashi, T. Shaikh, M. Takata, T. Toda +1 more
2003American Journal of Human Genetics117 citations Open access
Semantic Scholar
Detailed analysis of 22q11.2 with a high density MLPA probe set
G. Jalali, J. Vorstman, A. Errami, R. Vijzelaar +3 more
2008Human Mutation109 citations Open access
Semantic Scholar
A palindrome-mediated mechanism distinguishes translocations involving LCR-B of chromosome 22q11.2.
Anthony L. Gotter, T. Shaikh, M. Budarf, C. Rhodes +1 more
2004Human Molecular Genetics105 citations Open access
Semantic Scholar
Microdeletions and Microduplications in Patients with Congenital Heart Disease and Multiple Congenital Anomalies
E. Goldmuntz, Prasuna C. Paluru, J. Glessner, H. Hakonarson +4 more
2011Congenital Heart Disease104 citations Open access
Semantic Scholar
Clustered 11q23 and 22q11 breakpoints and 3:1 meiotic malsegregation in multiple unrelated t(11;22) families.
T. Shaikh, M. Budarf, L. Celle, E. Zackai +1 more
1999American Journal of Human Genetics92 citations Open access
Semantic Scholar
Chromosomal instability mediated by non-B DNA: cruciform conformation and not DNA sequence is responsible for recurrent translocation in humans.
H. Inagaki, T. Ohye, H. Kogo, T. Kato +5 more
2009Genome Research85 citations Open access
Semantic Scholar
Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder
C. Coughlin, G. Scharer, Marisa W. Friederich, Hung-Chun Yu +10 more
2015Journal of Medical Genetics84 citations Open access
Semantic Scholar
Tightly clustered 11q23 and 22q11 breakpoints permit PCR-based detection of the recurrent constitutional t(11;22).
Hiroki Kurahashi, T. Shaikh, E. Zackai, L. Celle +3 more
2000American Journal of Human Genetics79 citations Open access
Semantic Scholar
A 22q11.2 deletion that excludes UFD1L and CDC45L in a patient with conotruncal and craniofacial defects.
S. Saitta, James McGrath, Holly Mensch, T. Shaikh +2 more
1999American Journal of Human Genetics73 citations Open access
Semantic Scholar
Copy Number Variation Disorders
T. Shaikh
2017Current Genetic Medicine Reports72 citations Open access
Semantic Scholar
Clinical impact of copy number variation analysis using high-resolution microarray technologies: advantages, limitations and concerns
Curtis R. Ii Coughlin, G. Scharer, T. Shaikh
2012Genome Medicine72 citations Open access
Semantic Scholar
Identification of familial and de novo microduplications of 22q11.21-q11.23 distal to the 22q11.21 microdeletion syndrome region.
Justine Coppinger, D. McDonald-McGinn, E. Zackai, K. Shane +18 more
2009Human Molecular Genetics70 citations Open access
Semantic Scholar
High-density single nucleotide polymorphism array analysis in patients with germline deletions of 22q11.2 and malignant rhabdoid tumor
Eric M. Jackson, T. Shaikh, S. Gururangan, Marilyn C. Jones +6 more
2007Human Genetics67 citations
Semantic Scholar
Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome.
E. Mlynarski, Molly B. Sheridan, M. Xie, Ting-Wei Guo +28 more
2015American Journal of Human Genetics63 citations Open access
Semantic Scholar
SNP array mapping of 20p deletions: Genotypes, Phenotypes and Copy Number Variation
B. Kamath, B. Thiel, X. Gai, L. Conlin +11 more
2009Human Mutation61 citations Open access
Semantic Scholar
Mutations in THAP11 cause an inborn error of cobalamin metabolism and developmental abnormalities
Anita M. Quintana, Hung-Chun Yu, Alison Brebner, M. Pupavac +11 more
2017Human Molecular Genetics59 citations Open access
Semantic Scholar
A novel sequence-based approach to localize translocation breakpoints identifies the molecular basis of a t(4;22).
M. Nimmakayalu, Anthony L. Gotter, T. Shaikh, B. Emanuel
2003Human Molecular Genetics57 citations
Semantic Scholar
Recurrent Deletions and Reciprocal Duplications of 10q11.21q11.23 Including CHAT and SLC18A3 are Likely Mediated by Complex Low-Copy Repeats
P. Stankiewicz, S. Kulkarni, A. Dharmadhikari, S. Sampath +49 more
2011Human Mutation56 citations Open access
Semantic Scholar
CNV Workshop: an integrated platform for high-throughput copy number variation discovery and clinical diagnostics
X. Gai, J. Perin, Kevin P. Murphy, R. O’Hara +6 more
2010BMC Bioinformatics53 citations Open access
Semantic Scholar
The 22q11 low copy repeats are characterized by unprecedented size and structural variability
Wolfram Demaerel, Y. Mostovoy, Feyza Yilmaz, Lisanne Vervoort +14 more
2019Genome Research48 citations Open access
Semantic Scholar
Rapid detection of submicroscopic chromosomal rearrangements in children with multiple congenital anomalies using high density oligonucleotide arrays
J. Ming, E. Geiger, A. James, Karen L. Ciprero +7 more
2006Human Mutation48 citations Open access
Semantic Scholar
A palindrome-mediated recurrent translocation with 3:1 meiotic nondisjunction: the t(8;22)(q24.13;q11.21).
Molly B. Sheridan, T. Kato, C. Haldeman-Englert, G. Jalali +14 more
2010American Journal of Human Genetics46 citations Open access
Semantic Scholar
Oligonucleotide arrays for high-resolution analysis of copy number alteration in mental retardation/multiple congenital anomalies
T. Shaikh
2007Genetics in Medicine44 citations Open access
Semantic Scholar
Large Genomic Deletions: a Novel Cause of Ullrich Congenital Muscular Dystrophy
A. Foley, Ying Hu, Ya-Qun Zou, Michele L. Yang +11 more
2011Annals of Neurology43 citations Open access
Semantic Scholar
An Individual with Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome (BPES) and Additional Features Expands the Phenotype Associated with Mutations in KAT6B
Hung-Chun Yu, E. Geiger, L. Medne, E. Zackai +1 more
2014American Journal of Medical Genetics. Part A41 citations Open access
Semantic Scholar
Palindromic AT‐rich repeat in the NF1 gene is hypervariable in humans and evolutionarily conserved in primates
H. Inagaki, T. Ohye, H. Kogo, K. Yamada +4 more
2005Human Mutation41 citations Open access
Semantic Scholar
Hcfc1b, a zebrafish ortholog of HCFC1, regulates craniofacial development by modulating mmachc expression
Anita M. Quintana, E. Geiger, Nathan P. Achilly, D. Rosenblatt +5 more
2014Developmental Biology39 citations Open access
Semantic Scholar

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