High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications
…, M D'arcy, EC Frackelton, EA Geiger… - Genome …, 2009 - genome.cshlp.org
We present a database of copy number variations (CNVs) detected in 2026 disease-free
individuals, using high-density, SNP-based oligonucleotide microarrays. This large cohort, …
individuals, using high-density, SNP-based oligonucleotide microarrays. This large cohort, …
Copy number variation at 1q21. 1 associated with neuroblastoma
…, M Diamond, C Winter, K Wang, C Kim, EA Geiger… - Nature, 2009 - nature.com
Common copy number variations (CNVs) represent a significant source of genetic diversity,
yet their influence on phenotypic variability, including disease susceptibility, remains poorly …
yet their influence on phenotypic variability, including disease susceptibility, remains poorly …
Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development
…, LR Neitzel, AM Quintana, EA Geiger… - Human molecular …, 2015 - academic.oup.com
Kabuki syndrome (KS) is a rare multiple congenital anomaly syndrome characterized by
distinctive facial features, global developmental delay, intellectual disability and cardiovascular …
distinctive facial features, global developmental delay, intellectual disability and cardiovascular …
[PDF][PDF] An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1
…, NP Achilly, I Manoli, CR Coughlin, EA Geiger… - The American Journal of …, 2013 - cell.com
Derivatives of vitamin B 12 (cobalamin) are essential cofactors for enzymes required in
intermediary metabolism. Defects in cobalamin metabolism lead to disorders characterized by …
intermediary metabolism. Defects in cobalamin metabolism lead to disorders characterized by …
Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder
…, MW Friederich, HC Yu, EA Geiger… - Journal of medical …, 2015 - jmg.bmj.com
Background Mitochondrial disease is often suspected in cases of severe epileptic encephalopathy
especially when a complex movement disorder, liver involvement and progressive …
especially when a complex movement disorder, liver involvement and progressive …
Mutations in THAP11 cause an inborn error of cobalamin metabolism and developmental abnormalities
…, A Brebner, M Pupavac, EA Geiger… - Human molecular …, 2017 - academic.oup.com
CblX (MIM309541) is an X-linked recessive disorder characterized by defects in cobalamin (vitamin
B 12 ) metabolism and other developmental defects. Mutations in HCFC1, a …
B 12 ) metabolism and other developmental defects. Mutations in HCFC1, a …
The 22q11 low copy repeats are characterized by unprecedented size and structural variability
…, A Swillen, E Vergaelen, EA Geiger… - Genome …, 2019 - genome.cshlp.org
Low copy repeats (LCRs) are recognized as a significant source of genomic instability,
driving genome variability and evolution. The Chromosome 22 LCRs (LCR22s) mediate …
driving genome variability and evolution. The Chromosome 22 LCRs (LCR22s) mediate …
Genomic regions associated with microdeletion/microduplication syndromes exhibit extreme diversity of structural variation
…, F Yilmaz, SK Chow, C Chu, C Lin, EA Geiger… - Genetics, 2021 - academic.oup.com
Segmental duplications (SDs) are a class of long, repetitive DNA elements whose paralogs
share a high level of sequence similarity with each other. SDs mediate chromosomal …
share a high level of sequence similarity with each other. SDs mediate chromosomal …
[HTML][HTML] Hcfc1b, a zebrafish ortholog of HCFC1, regulates craniofacial development by modulating mmachc expression
AM Quintana, EA Geiger, N Achilly, DS Rosenblatt… - Developmental …, 2014 - Elsevier
Mutations in HCFC1 (MIM300019), have been recently associated with cblX (MIM309541),
an X-linked, recessive disorder characterized by multiple congenital anomalies including …
an X-linked, recessive disorder characterized by multiple congenital anomalies including …
An individual with blepharophimosis–ptosis–epicanthus inversus syndrome (BPES) and additional features expands the phenotype associated with mutations in …
HC Yu, EA Geiger, L Medne, EH Zackai… - American Journal of …, 2014 - Wiley Online Library
Blepharophimosis–ptosis–epicanthus inversus syndrome (BPES) is an autosomal dominant
disorder caused by mutations in FOXL2. We identified an individual with BPES and …
disorder caused by mutations in FOXL2. We identified an individual with BPES and …