Carrier testing for spinal muscular atrophy.

Criteria for authorship in bioethics. Am J Bioeth (2011) 4.60

Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72,400 specimens. Eur J Hum Genet (2011) 1.88

Identification of processing elements and interactors implicate SMN, coilin and the pseudogene-encoded coilp1 in telomerase and box C/D scaRNP biogenesis. RNA Biol (2016) 0.75

SMN and coilin negatively regulate dyskerin association with telomerase RNA. Biol Open (2016) 0.75

Newborn and carrier screening for spinal muscular atrophy. Am J Med Genet A (2010) 2.38

Carrier screening for spinal muscular atrophy. Genet Med (2008) 1.61

Differences in SMN1 allele frequencies among ethnic groups within North America. J Med Genet (2009) 1.38

ACOG committee opinion No. 432: spinal muscular atrophy. Obstet Gynecol (2009) 1.35

Managing incidental findings in human subjects research: analysis and recommendations. J Law Med Ethics (2008) 12.10

Managing incidental findings and research results in genomic research involving biobanks and archived data sets. Genet Med (2012) 9.65

The genome of a songbird. Nature (2010) 5.90

Feasibility of screening for Lynch syndrome among patients with colorectal cancer. J Clin Oncol (2008) 5.47

Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington's disease age of onset. Proc Natl Acad Sci U S A (2004) 3.73

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. Nat Genet (2010) 3.66

Oversight of human participants research: identifying problems to evaluate reform proposals. Ann Intern Med (2004) 3.58

Comparative genome analysis of Salmonella Enteritidis PT4 and Salmonella Gallinarum 287/91 provides insights into evolutionary and host adaptation pathways. Genome Res (2008) 3.54

From patients to partners: participant-centric initiatives in biomedical research. Nat Rev Genet (2012) 3.44

Pompe disease diagnosis and management guideline. Genet Med (2006) 3.03

The Scientific Foundation for personal genomics: recommendations from a National Institutes of Health-Centers for Disease Control and Prevention multidisciplinary workshop. Genet Med (2009) 2.91

Developmental study of fragile X syndrome using human embryonic stem cells derived from preimplantation genetically diagnosed embryos. Cell Stem Cell (2007) 2.87

Position statement from the Aneuploidy Screening Committee on behalf of the Board of the International Society for Prenatal Diagnosis. Prenat Diagn (2013) 2.87

Methods for interpreting lists of affected genes obtained in a DNA microarray experiment. BMC Proc (2009) 2.80

Pseudoxanthoma elasticum-like phenotype with cutis laxa and multiple coagulation factor deficiency represents a separate genetic entity. J Invest Dermatol (2006) 2.76

Point-counterpoint. Ethics and genomic incidental findings. Science (2013) 2.73

Strategies for implementing screening for critical congenital heart disease. Pediatrics (2011) 2.72

Recommendations for effective newborn screening communication: results of focus groups with parents, providers, and experts. Pediatrics (2006) 2.63

Committee report: Considerations and recommendations for national guidance regarding the retention and use of residual dried blood spot specimens after newborn screening. Genet Med (2011) 2.41

Mitochondrial encephalopathy, lactic acidosis, and strokelike episodes: basic concepts, clinical phenotype, and therapeutic management of MELAS syndrome. Ann N Y Acad Sci (2008) 2.39

Neuronal SMN expression corrects spinal muscular atrophy in severe SMA mice while muscle-specific SMN expression has no phenotypic effect. Hum Mol Genet (2008) 2.35

Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum. J Med Genet (2007) 2.32

Pompe disease in infants and children. J Pediatr (2004) 2.30

A novel founder mutation in the RNASEL gene, 471delAAAG, is associated with prostate cancer in Ashkenazi Jews. Am J Hum Genet (2002) 2.24

Planning the human variome project: the Spain report. Hum Mutat (2009) 2.22

Appropriateness of newborn screening for α1-antitrypsin deficiency. J Pediatr Gastroenterol Nutr (2014) 2.10

Cystic fibrosis carrier testing in an ethnically diverse US population. Clin Chem (2011) 2.05

The motor neuron response to SMN1 deficiency in spinal muscular atrophy. Muscle Nerve (2014) 2.02

Consensus statement for standard of care in spinal muscular atrophy. J Child Neurol (2007) 2.01

Recommendations of the 2006 Human Variome Project meeting. Nat Genet (2007) 1.90

Gestational age and maternal weight effects on fetal cell-free DNA in maternal plasma. Prenat Diagn (2013) 1.87

Population-based prevalence, type- and age-specific distribution of HPV in women before introduction of an HPV-vaccination program in Denmark. Int J Cancer (2008) 1.71

Committee report: Method for evaluating conditions nominated for population-based screening of newborns and children. Genet Med (2010) 1.69

The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly. Genet Med (2009) 1.68

Phase II open label study of valproic acid in spinal muscular atrophy. PLoS One (2009) 1.67

Varying loads of the mitochondrial DNA A3243G mutation in different tissues: implications for diagnosis. Am J Med Genet A (2004) 1.64

Modeling the long-term antibody response of a human papillomavirus (HPV) virus-like particle (VLP) type 16 prophylactic vaccine. Vaccine (2007) 1.53

The I148T CFTR allele occurs on multiple haplotypes: a complex allele is associated with cystic fibrosis. Genet Med (2002) 1.49

The cost-effectiveness of prenatal screening for spinal muscular atrophy. Am J Obstet Gynecol (2010) 1.48

How disease advocacy organizations participate in clinical research: a survey of genetic organizations. Genet Med (2012) 1.47

MicroRNA profile of Marek's disease virus-transformed T-cell line MSB-1: predominance of virus-encoded microRNAs. J Virol (2008) 1.47

Prenatal Detection of Down Syndrome using Massively Parallel Sequencing (MPS): a rapid response statement from a committee on behalf of the Board of the International Society for Prenatal Diagnosis, 24 October 2011. Prenat Diagn (2012) 1.45

Toward more efficient clinical trials for amyotrophic lateral sclerosis. Amyotroph Lateral Scler (2010) 1.45

SMA CARNI-VAL trial part I: double-blind, randomized, placebo-controlled trial of L-carnitine and valproic acid in spinal muscular atrophy. PLoS One (2010) 1.45

Experience with the Awaji Island modifications to the ALS diagnostic criteria. Muscle Nerve (2010) 1.43

Validation of the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND). Pediatr Phys Ther (2011) 1.42

Providers' knowledge of genetics: A survey of 5915 individuals and families with genetic conditions. Genet Med (2007) 1.42

NF-M is an essential target for the myelin-directed "outside-in" signaling cascade that mediates radial axonal growth. J Cell Biol (2003) 1.41

Answering the hard questions: the Genetic Testing Registry and its request for information. Genet Test Mol Biomarkers (2011) 1.40

Multiple genes in human 20q13 chromosomal region are involved in an advanced prostate cancer xenograft. Cancer Res (2002) 1.40

The critically ill patient with ataxia-telangiectasia: a case series. Pediatr Crit Care Med (2012) 1.39

Glial cell line-derived neurotrophic factor alters axon schwann cell units and promotes myelination in unmyelinated nerve fibers. J Neurosci (2003) 1.38

Cortical ependymoma or monomorphous angiocentric glioma? Neuropathology (2007) 1.35

Pesticide testing in humans: ethics and public policy. Environ Health Perspect (2004) 1.35

Neurologic considerations in propionic acidemia. Mol Genet Metab (2011) 1.34

Myelin-associated glycoprotein and complementary axonal ligands, gangliosides, mediate axon stability in the CNS and PNS: neuropathology and behavioral deficits in single- and double-null mice. Exp Neurol (2005) 1.32

Altered gene expression and DNA damage in peripheral blood cells from Friedreich's ataxia patients: cellular model of pathology. PLoS Genet (2010) 1.32

Assessment of newborn screening parent education materials. Pediatrics (2006) 1.31

Human embryonic germ cell derivatives facilitate motor recovery of rats with diffuse motor neuron injury. J Neurosci (2003) 1.31

Pseudoxanthoma elasticum: progress in diagnostics and research towards treatment : Summary of the 2010 PXE International Research Meeting. Am J Med Genet A (2011) 1.31

A SMN missense mutation complements SMN2 restoring snRNPs and rescuing SMA mice. Hum Mol Genet (2009) 1.31

The changing epidemiology of invasive pneumococcal disease in aboriginal and non-aboriginal western Australians from 1997 through 2007 and emergence of nonvaccine serotypes. Clin Infect Dis (2010) 1.30

Acute management of propionic acidemia. Mol Genet Metab (2011) 1.30

Thermal conductivity of monolayer molybdenum disulfide obtained from temperature-dependent Raman spectroscopy. ACS Nano (2014) 1.29

Wolff-Parkinson-White syndrome in Patients With MELAS. Arch Neurol (2007) 1.29

Preimplantation aneuploid embryos undergo self-correction in correlation with their developmental potential. Fertil Steril (2008) 1.28

Comprehensive functional analysis of chymotrypsin C (CTRC) variants reveals distinct loss-of-function mechanisms associated with pancreatitis risk. Gut (2012) 1.27

Immunodeficiency and infections in ataxia-telangiectasia. J Pediatr (2004) 1.26

Natural history of propionic acidemia. Mol Genet Metab (2011) 1.24

Pseudoxanthoma elasticum: progress in research toward treatment: summary of the 2012 PXE international research meeting. J Invest Dermatol (2013) 1.23

A genomic analysis of chicken cytokines and chemokines. J Interferon Cytokine Res (2005) 1.22

Long-term follow-up after diagnosis resulting from newborn screening: statement of the US Secretary of Health and Human Services' Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children. Genet Med (2008) 1.22

Sphingosine-1-phosphate stimulates human glioma cell proliferation through Gi-coupled receptors: role of ERK MAP kinase and phosphatidylinositol 3-kinase beta. Cancer Lett (2002) 1.22

Missed opportunities for duchenne muscular dystrophy. J Pediatr (2009) 1.21

Corticosteroids in Duchenne muscular dystrophy: major variations in practice. Muscle Nerve (2013) 1.20

Novel clinico-molecular insights in pseudoxanthoma elasticum provide an efficient molecular screening method and a comprehensive diagnostic flowchart. Hum Mutat (2008) 1.20

Ethical issues in identifying and recruiting participants for familial genetic research. Am J Med Genet A (2004) 1.20

SMA CARNIVAL TRIAL PART II: a prospective, single-armed trial of L-carnitine and valproic acid in ambulatory children with spinal muscular atrophy. PLoS One (2011) 1.19

Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature. Hum Mutat (2009) 1.18

Truncation by Glu180 nonsense mutation results in complete loss of slow skeletal muscle troponin T in a lethal nemaline myopathy. J Biol Chem (2003) 1.16

Pseudoxanthoma elasticum: genetic diagnostic markers. Expert Opin Med Diagn (2008) 1.16

A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3. Brain (2013) 1.15

A blueprint for maternal and child health primary care physician education in medical genetics and genomic medicine: recommendations of the United States secretary for health and human services advisory committee on heritable disorders in newborns and children. Genet Med (2010) 1.15

Common data elements for clinical research in Friedreich's ataxia. Mov Disord (2012) 1.14

A modified Hammersmith functional motor scale for use in multi-center research on spinal muscular atrophy. Neuromuscul Disord (2006) 1.13

Muscular Dystrophy Surveillance Tracking and Research Network (MD STARnet): case definition in surveillance for childhood-onset Duchenne/Becker muscular dystrophy. J Child Neurol (2010) 1.12

Report of MDA muscle disease symposium on newborn screening for Duchenne muscular dystrophy. Muscle Nerve (2013) 1.11

Reactions and needs of tristate-area pediatricians after the events of September 11th: implications for children's mental health services. Pediatrics (2004) 1.10

Evaluation of SMN protein, transcript, and copy number in the biomarkers for spinal muscular atrophy (BforSMA) clinical study. PLoS One (2012) 1.08

Validation of the Expanded Hammersmith Functional Motor Scale in spinal muscular atrophy type II and III. J Child Neurol (2011) 1.08

Hypocitrullinemia in patients with MELAS: an insight into the "MELAS paradox". J Neurol Sci (2004) 1.07

Association of autistic spectrum disorders with dystrophinopathies. Pediatr Neurol (2009) 1.07

Conference report: second conference of the Middle East and North Africa newborn screening initiative: Partnerships for sustainable newborn screening infrastructure and research opportunities. Genet Med (2009) 1.07

A disservice to advances in newborn genetic screening: comment on Timmermans and Buchbinder. J Health Soc Behav (2011) 1.07