T. Shaikh

发表

Microduplications of 16p11.2 are Associated with Schizophrenia

Jessica R. Wolff, J. Sebat, B. Lakshmi, 2009, Nature Genetics.

Melanie E. Goward, Antony V. Cox, R. Durbin, 1999, Nature.

Exome sequencing of 457 autism families recruited online provides evidence for novel ASD genes

Richard A Marini, Simon X. Xu, Nicole M. Russo-Ponsaran, 2019 .

Concept, Design and Implementation of a Cardiovascular Gene-Centric 50 K SNP Array for Large-Scale Genomic Association Studies

Mark I. McCarthy, Deborah A. Nickerson, Xiaowu Gai, 2008, PloS one.

Copy number variation at 1q21.1 associated with neuroblastoma

Sharon J. Diskin, John M. Maris, Struan F. A. Grant, 2009, Nature.

Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low‐copy repeats

Stephanie E. Vallee, J. Rosenfeld, L. Shaffer, 2012, Human mutation.

The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome

Bassem A Bejjani, Lisa G Shaffer, Blake C Ballif, 2007, Genetics in Medicine.

Segmental duplications: an 'expanding' role in genomic instability and disease

Tamim H. Shaikh, T. Shaikh, B. Emanuel, 2001, Nature Reviews Genetics.

Microdeletions and microduplications in patients with congenital heart disease and multiple congenital anomalies.

Xiaowu Gai, Joseph T. Glessner, Hakon Hakonarson, 2011, Congenital heart disease.

Alu-mediated PCR artifacts and the constitutional t(11;22) breakpoint.

T. Shaikh, B. Emanuel, H. Kurahashi, 2000, Human Molecular Genetics.

Hcfc1b, a zebrafish ortholog of HCFC1, regulates craniofacial development by modulating mmachc expression.

T. Shaikh, K. Artinger, D. Rosenblatt, 2014, Developmental biology.

Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes

T. Shaikh, H. Hakonarson, S. Grant, 2010, Molecular Psychiatry.

A 781‐kb deletion of 13q12.3 in a patient with Peters plus syndrome

E. Zackai, C. Haldeman-Englert, T. Shaikh, 2009, American journal of medical genetics. Part A.

A patient with mosaic partial trisomy 18 resulting from dicentric chromosome breakage

E. Zackai, N. Spinner, T. Shaikh, 2005, American journal of medical genetics. Part A.

Construction of a 780-kb PAC, BAC, and cosmid contig encompassing the minimal critical deletion involved in B cell chronic lymphocytic leukemia at 13q14.3.

T. Shaikh, M. Batzer, M. Devilder, 1997, Genomics.

A palindrome-mediated mechanism distinguishes translocations involving LCR-B of chromosome 22q11.2.

T. Shaikh, A. Gotter, B. Emanuel, 2004, Human molecular genetics.

Clinical impact of copy number variation analysis using high-resolution microarray technologies: advantages, limitations and concerns

T. Shaikh, G. Scharer, C. Coughlin, 2012, Genome Medicine.

Evaluating Familial Essential Tremor with Novel Genetic Approaches: Is it a Genotyping or Phenotyping Issue?

T. Shaikh, A. Bassuk, B. Darbro, 2014, Tremor and other hyperkinetic movements.

Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder

T. Shaikh, M. Minczuk, A. Vanlander, 2015, Journal of Medical Genetics.

The 22q11 low copy repeats are characterized by unprecedented size and structural variability.

T. Shaikh, P. Kwok, M. Xiao, 2019, Genome research.

Mutations in THAP11 cause an inborn error of cobalamin metabolism and developmental abnormalities

Warren A. Cheung, T. Shaikh, T. Pastinen, 2017, Human molecular genetics.

The role of Kabuki Syndrome genes KMT2D and KDM6A in development: Analysis in Human sequencing data and compared to mice and zebrafish

T. Shaikh, K. Artinger, E. Geiger, 2020, bioRxiv.

SNP array mapping of 20p deletions: Genotypes, Phenotypes and Copy Number Variation

Joseph T. Glessner, I. Krantz, T. Shaikh, 2011 .

Genome mapping resolves structural variation within segmental duplications associated with microdeletion/microduplication syndromes

T. Shaikh, P. Kwok, C. Chu, 2020, bioRxiv.

Integrating de novo and inherited variants in over 42,607 autism cases 1 identifies mutations in new moderate risk genes 2

Nicole M. Russo-Ponsaran, M. Dennis, T. Shaikh, 2021 .

Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development.

E. Zackai, T. Shaikh, K. Artinger, 2015, Human molecular genetics.

Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5.

Malene B. Rasmussen, T. Shaikh, C. Dieckmann, 2014, Brain : a journal of neurology.

Psychiatric and Medical Profiles of Autistic Adults in the SPARK Cohort

Richard A Marini, Simon X. Xu, Nicole M. Russo-Ponsaran, 2020, Journal of Autism and Developmental Disorders.

Genes and biological processes commonly disrupted in rare and heterogeneous developmental delay syndromes.

C. Haldeman-Englert, T. Shaikh, C. Ponting, 2011, Human molecular genetics.

Cytogenetics and holoprosencephaly: A chromosomal microarray study of 222 individuals with holoprosencephaly

T. Shaikh, D. Pineda-Alvarez, P. Kruszka, 2018, American journal of medical genetics. Part C, Seminars in medical genetics.

The co‐occurrence of Down syndrome and autism spectrum disorder: is it because of additional genetic variations?

T. Shaikh, S. Hepburn, K. Gardiner, 2017, Prenatal diagnosis.

The co-occurrence of Down syndrome and autism spectrum disorder : is it due to additional genetic variations ? Running head : Genetic variation in co-occurring Down syndrome and ASD

T. Shaikh, S. Hepburn, K. Gardiner, 2016 .

Whole‐exome sequencing and adrenocorticotropic hormone therapy in individuals with infantile spasms

G. Carvill, T. Shaikh, T. Benke, 2021, Developmental medicine and child neurology.

Segmental Duplications and Genetic Disease

T. Shaikh, B. Emanuel, 2006 .

Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis.

B. Roe, E. Zackai, T. Shaikh, 2000, Human molecular genetics.

SNP array mapping of chromosome 20p deletions: Genotypes, phenotypes, and copy number variation

Joseph T. Glessner, I. Krantz, N. Spinner, 2009, Human mutation.

Structure and variability of recently inserted Alu family members.

T. Shaikh, M. Batzer, P. Deininger, 1990, Nucleic acids research.

Dispersion and insertion polymorphism in two small subfamilies of recently amplified human Alu repeats.

T. Shaikh, C. Schmid, M. Batzer, 1995, Journal of Molecular Biology.

An individual with blepharophimosis–ptosis–epicanthus inversus syndrome (BPES) and additional features expands the phenotype associated with mutations in KAT6B

E. Zackai, T. Shaikh, L. Medne, 2014, American journal of medical genetics. Part A.

A recurrent 16p12.1 microdeletion suggests a two-hit model for severe developmental delay

Deborah L. Levy, Gregory M. Cooper, Brian L. Browning, 2010, Nature Genetics.

Rare structural variation of synapse and neurotransmission genes in autism

T. Shaikh, H. Hakonarson, J. Buxbaum, 2011, Molecular Psychiatry.

Integrating de novo and inherited variants in over 42,607 autism cases identifies mutations in new moderate risk genes

William T. Harvey, Richard A Marini, Simon X. Xu, 2021, medRxiv.

Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes

Richard A Marini, Simon X. Xu, Nicole M. Russo-Ponsaran, 2019, npj Genomic Medicine.

Duplication of 7q34 in Pediatric Low‐Grade Astrocytomas Detected by High‐Density Single‐Nucleotide Polymorphism‐Based Genotype Arrays Results in a Novel BRAF Fusion Gene

T. Shaikh, H. Hakonarson, J. Biegel, 2009, Brain pathology.

Detailed analysis of 22q11.2 with a high density MLPA probe set

T. Shaikh, J. Biegel, J. Vorstman, 2008, Human mutation.

Clustered 11q23 and 22q11 breakpoints and 3:1 meiotic malsegregation in multiple unrelated t(11;22) families.

E. Zackai, T. Shaikh, B. Emanuel, 1999, American journal of human genetics.

Implementation of high resolution single nucleotide polymorphism array analysis as a clinical test for patients with hematologic malignancies.

T. Shaikh, H. Hakonarson, J. Biegel, 2011, Cancer genetics.

Genomic regions associated with microdeletion/microduplication syndromes exhibit extreme diversity of structural variation.

U. Surti, T. Shaikh, P. Kwok, 2021, Genetics.

Identification of familial and de novo microduplications of 22q11.21-q11.23 distal to the 22q11.21 microdeletion syndrome region.

William W. Cohen, L. Shaffer, E. Zackai, 2009, Human molecular genetics.

Oligonucleotide arrays for high-resolution analysis of copy number alteration in mental retardation/multiple congenital anomalies

T. Shaikh, 2007, Genetics in Medicine.

Rapid detection of submicroscopic chromosomal rearrangements in children with multiple congenital anomalies using high density oligonucleotide arrays

E. Zackai, T. Shaikh, E. Rappaport, 2006, Human mutation.

Evolutionarily conserved low copy repeats (LCRs) in 22q11 mediate deletions, duplications, translocations, and genomic instability: An update and literature review

T. Shaikh, B. Emanuel, H. Kurahashi, 2001, Genetics in Medicine.

cDNAs derived from primary and small cytoplasmic Alu (scAlu) transcripts.

T. Shaikh, M. Batzer, P. Deininger, 1997, Journal of molecular biology.

22q11.2 Low Copy Repeats Expanded in the Human Lineage

T. Shaikh, M. Rocchi, J. Vermeesch, 2021, Frontiers in Genetics.

Human-specific expansion of 22q11.2 low copy repeats

T. Shaikh, M. Rocchi, J. Vermeesch, 2020, bioRxiv.

The 22q11 low copy repeats are characterized by unprecedented size and structural variability

T. Shaikh, P. Kwok, M. Xiao, 2018, bioRxiv.

Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome.

Stephan Eliez, Tingwei Guo, Xiaowu Gai, 2015, American journal of human genetics.

Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes

T. Shaikh, H. Hakonarson, S. Grant, 2010, Molecular Psychiatry.

High-density single nucleotide polymorphism array analysis in patients with germline deletions of 22q11.2 and malignant rhabdoid tumor

T. Shaikh, J. Biegel, Marilyn C. Jones, 2007, Human Genetics.

Low copy repeats mediate distal chromosome 22q11.2 deletions: sequence analysis predicts breakpoint mechanisms.

T. Shaikh, B. Emanuel, S. Saitta, 2007, Genome research.

Palindromic AT‐rich repeat in the NF1 gene is hypervariable in humans and evolutionarily conserved in primates

T. Shaikh, H. Kurahashi, H. Kogo, 2005, Human mutation.

A novel sequence-based approach to localize translocation breakpoints identifies the molecular basis of a t(4;22).

T. Shaikh, A. Gotter, B. Emanuel, 2003, Human molecular genetics.

The constitutional t(17;22): another translocation mediated by palindromic AT-rich repeats.

T. Shaikh, B. Emanuel, H. Kurahashi, 2003, American journal of human genetics.

Tightly clustered 11q23 and 22q11 breakpoints permit PCR-based detection of the recurrent constitutional t(11;22).

E. Zackai, T. Shaikh, B. Emanuel, 2000, American journal of human genetics.

Regions of genomic instability on 22q11 and 11q23 as the etiology for the recurrent constitutional t(11;22).

B. Roe, T. Shaikh, P. Hu, 2000, Human molecular genetics.

Copy-Number Variation of the Glucose Transporter Gene SLC 2 A 3 and Congenital Heart Defects in the 22 q 11 . 2 Deletion Syndrome

E. Zackai, T. Shaikh, K. Coleman, 2022 .

A 22q11.2 deletion that excludes UFD1L and CDC45L in a patient with conotruncal and craniofacial defects.

E. Zackai, T. Shaikh, B. Emanuel, 1999, American journal of human genetics.

African origin of human-specific polymorphic Alu insertions.

R. J. Herrera, T. Shaikh, M. Stoneking, 1994, Proceedings of the National Academy of Sciences of the United States of America.

Multi-modal investigation of the schizophrenia-associated 3q29 genomic interval reveals global genetic diversity with unique haplotypes and segments that increase the risk for non-allelic homologous recombination NAHR

T. Shaikh, C. Lee, M. Zwick, 2021, medRxiv.

Genome-wide copy number variations in a large cohort of bantu African children

Stephanie A. Santorico, B. Hallgrímsson, T. Shaikh, 2020, bioRxiv.

Copy Number Variation Disorders

T. Shaikh, 2017, Current Genetic Medicine Reports.

Genomic and Genic Deletions of the FOX Gene Cluster on 16q24.1 and Inactivating Mutations of FOXF1 Cause Alveolar Capillary Dysplasia and Other Malformations

Tomas W. Fitzgerald, D. J. Driscoll, N. Carter, 2009, American journal of human genetics.

Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome

J. Shendure, H. Mefford, E. Zackai, 2011, American journal of medical genetics. Part A.

Sequence diversity and chromosomal distribution of "young" Alu repeats.

T. Shaikh, M. Batzer, D. Nelson, 1995, Gene.

Genomic Analysis Using High-Density Single Nucleotide Polymorphism-Based Oligonucleotide Arrays and Multiplex Ligation-Dependent Probe Amplification Provides a Comprehensive Analysis of INI1/SMARCB1 in Malignant Rhabdoid Tumors

T. Shaikh, H. Hakonarson, J. Biegel, 2009, Clinical Cancer Research.

High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications.

Xiaowu Gai, Laura K Conlin, Livija Medne, 2009, Genome research.

applications the human genome : A data resource for clinical and research High-resolution mapping and analysis of copy number variations in Material Supplemental

Joseph T. Glessner, Ryan M. Smith, E. Zackai, 2009 .

Discovery of a potentially deleterious variant in TMEM87B in a patient with a hemizygous 2q13 microdeletion suggests a recessive condition characterized by congenital heart disease and restrictive cardiomyopathy

T. Shaikh, Hung-Chun Yu, S. Miyamoto, 2016, Cold Spring Harbor molecular case studies.

A de novo 8.8‐Mb deletion of 21q21.1–q21.3 in an autistic male with a complex rearrangement involving chromosomes 6, 10, and 21

E. Zackai, N. Spinner, C. Haldeman-Englert, 2010, American journal of medical genetics. Part A.

Discovery of a previously unrecognized microdeletion syndrome of 16p11.2–p12.2

U. Surti, L. Shaffer, E. Zackai, 2007, Nature Genetics.

The role of KMT2D and KDM6A in cardiac development: A cross-species analysis in humans, mice, and zebrafish

Kenneth L. Jones, T. Shaikh, K. Artinger, 2020 .

Chromosomal instability mediated by non-B DNA: cruciform conformation and not DNA sequence is responsible for recurrent translocation in humans.

T. Shaikh, B. Emanuel, H. Kurahashi, 2009, Genome research.

Duplication of 7q34 in pediatric low-grade astrocytomas detected by high-density single-nucleotide polymorphism-based genotype arrays results in a novel BRAF fusion gene (Brain Pathol (2008) 19 (449-458))

T. Shaikh, H. Hakonarson, J. Biegel, 2009 .

Recurrent interstitial 1p36 deletions: Evidence for germline mosaicism and complex rearrangement breakpoints

J. Rosenfeld, L. Shaffer, T. Shaikh, 2010, American journal of medical genetics. Part A.

Cis-acting influences on Alu RNA levels.

T. Shaikh, P. Deininger, A. M. Roy-Engel, 2000, Nucleic acids research.

Endocrine phenotype of 6q16.1–q21 deletion involving SIM1 and Prader–Willi syndrome‐like features

E. Zackai, T. Shaikh, L. Medne, 2013, American journal of medical genetics. Part A.

Genome-wide analysis of copy number variants and normal facial variation in a large cohort of Bantu Africans

Stephanie A. Santorico, B. Hallgrímsson, T. Shaikh, 2021, HGG advances.

Large genomic deletions: A novel cause of Ullrich congenital muscular dystrophy

Marni J. Falk, N. Spinner, T. Shaikh, 2011, Annals of neurology.

Atypical teratoid/rhabdoid tumor in a patient with Beckwith–Wiedemann syndrome

E. Zackai, T. Shaikh, H. Hakonarson, 2007, American journal of medical genetics. Part A.

CNV Workshop: an integrated platform for high-throughput copy number variation discovery and clinical diagnostics

Xiaowu Gai, Peter S. White, Hongbo M. Xie, 2010, BMC Bioinformatics.

Abnormal expression of GABAA receptor subunits and hypomotility upon loss of gabra1 in zebrafish

T. Shaikh, Hung-Chun Yu, A. Quintana, 2020, Biology Open.

Abnormal expression of GABAA receptor sub-units and hypomotility upon loss of gabra1 in zebrafish

T. Shaikh, Hung-Chun Yu, A. Quintana, 2020, bioRxiv.

Characterization of CDC45L: a gene in the 22q11.2 deletion region expressed during murine and human development

B. Roe, T. Shaikh, F. Chen, 1999, Mammalian Genome.

A palindrome-mediated recurrent translocation with 3:1 meiotic nondisjunction: the t(8;22)(q24.13;q11.21).

E. Zackai, C. Haldeman-Englert, T. Shaikh, 2010, American journal of human genetics.

An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1.

T. Shaikh, M. Baumgartner, T. Suormala, 2013, American journal of human genetics.

A 3.1-Mb microdeletion of 3p21.31 associated with cortical blindness, cleft lip, CNS abnormalities, and developmental delay.

E. Zackai, C. Haldeman-Englert, T. Shaikh, 2009, European journal of medical genetics.

High level of complexity and global diversity of the 3q29 locus revealed by optical mapping and long-read sequencing

T. Shaikh, P. Kwok, M. Zwick, 2023, Genome Medicine.

Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes

Joseph T. Glessner, T. Shaikh, J. Glessner, 2009, Molecular Psychiatry.

Beliefs in vaccine as causes of autism among SPARK cohort caregivers.

Richard A Marini, Simon X. Xu, Jacob B. Hall, 2020, Vaccine.

Spectrum of elastin sequence variants and cardiovascular phenotypes in 49 patients with Williams–Beuren syndrome

C. Haldeman-Englert, T. Shaikh, B. Morrow, 2013, American Journal of Medical Genetics. Part A.

Large-scale subcloning of bacteriophage lambda ZAP clones.

T. Shaikh, M. Batzer, P. Deininger, 1992, BioTechniques.

Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes

Richard A Marini, Simon X. Xu, Deana D. Li, 2019, npj Genomic Medicine.

The role and amplification of the HS Alu subfamily founder gene

T. Shaikh, P. Deininger, 2004, Journal of Molecular Evolution.

X-Linked Cobalamin Disorder (HCFC1) Mimicking Nonketotic Hyperglycinemia With Increased Both Cerebrospinal Fluid Glycine and Methylmalonic Acid.

T. Shaikh, L. de Meirleir, J. V. Van Hove, 2017, Pediatric neurology.

Duplication of 7q34 in Pediatric Low‐Grade Astrocytomas Detected by High‐Density Single‐Nucleotide Polymorphism‐Based Genotype Arrays Results in a Novel BRAF Fusion Gene

T. Shaikh, H. Hakonarson, J. Biegel, 2009, Brain pathology.

Endocrine phenotype of 6q16.1–q21 deletion involving SIM1 and Prader–Willi syndrome‐like features

E. Zackai, T. Shaikh, L. Medne, 2013, American journal of medical genetics. Part A.