G. Scharer

发表

Genomics in Clinical Practice: Lessons from the Front Lines

Jeremy M. Harris, H. Jacob, J. Lazar, 2013, Science Translational Medicine.

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.

BAG3 myofibrillar myopathy presenting with cardiomyopathy

J. Southern, G. Geddes, R. Kliegman, 2015, Neuromuscular Disorders.

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.

Folinic acid–responsive seizures are identical to pyridoxine‐dependent epilepsy

P. Waters, B. Plecko, S. Stockler-Ipsiroglu, 2009, Annals of neurology.

Prediction of long-term outcome in glycine encephalopathy: a clinical survey

G. Scharer, J. Hennermann, U. Grieben, 2012, Journal of Inherited Metabolic Disease.

Systemic Inflammatory Responses in Children with Acute Otitis Media Due to Streptococcus pneumoniae and the Impact of Treatment with Clarithromycin

F. Zaldivar, G. Scharer, A. Arrieta, 2003, Clinical Diagnostic Laboratory Immunology.

A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases

Laurie D. Smith, Scott D. Kahn, G. Del Angel, 2022, American journal of human genetics.

A patient with germ-line gain-of-function PDGFRB p.N666H mutation and marked clinical response to imatinib

J. Demoulin, G. Scharer, Y. Messinger, 2017, Genetics in Medicine.

The M405V allele of the glutaryl-CoA dehydrogenase gene is an important marker for glutaric aciduria type I (GA-I) low excretors.

G. Enns, C. Hoppel, J. Bedoyan, 2016, Molecular genetics and metabolism.

Expanding the genotype–phenotype correlation in subtelomeric 19p13.3 microdeletions using high resolution clinical chromosomal microarray analysis

P. Stankiewicz, Ankita Patel, S. Cheung, 2013, American journal of medical genetics. Part A.

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.

Evaluation for a genetic disease

G. Scharer, 2011 .

Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up.

C. V. van Karnebeek, S. Gospe, P. Clayton, 2011, Molecular genetics and metabolism.

The genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy due to mutations in ALDH7A1

C. Brocker, V. Vasiliou, J. V. Van Hove, 2010, Journal of Inherited Metabolic Disease.

Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia

H. Szerlong, G. Matthijs, J. V. Van Hove, 2015, Annals of neurology.

Multisite Study of Optical Genome Mapping of Retrospective and Prospective Constitutional Disorder Cohorts

C. Skinner, U. Broeckel, S. Skinner, 2022, medRxiv.

Multi-site Technical Performance and Concordance of Optical Genome Mapping: Constitutional Postnatal Study for SV, CNV, and Repeat Array Analysis

C. Skinner, U. Broeckel, B. Levy, 2021, medRxiv.

Multisite Assessment of Optical Genome Mapping for Analysis of Structural Variants in Constitutional Postnatal Cases

C. Skinner, U. Broeckel, S. Skinner, 2023, The Journal of molecular diagnostics : JMD.

Divergence between genotype and phenotype in relatives of patients with the intron 2 mutation of steroid-21-hydroxylase.

L. Priebe, G. Scharer, M. Bettendorf, 1995, Endocrine research.

Small duplication of chromosome (7)(p22.1p22.2) and consideration of a dup 7p syndrome critical region.

G. Scharer, B. Lunt, Jaffar Alfardan, 2011, Clinical dysmorphology.

Neonatal liver failure: a genetic and metabolic perspective

J. V. Van Hove, G. Scharer, M. Saenz, 2010, Current opinion in pediatrics.

An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases

Francisco M. De La Vega, Laurie D. Smith, J. Weir, 2022, Nature Communications.

TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities.

Gao T. Wang, Mahshid S. Azamian, M. Hurles, 2013, American journal of human genetics.

The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT

G. Matthijs, C. Pérez-Cerdá, M. Ugarte, 2016, Genetics in Medicine.

Table 2. [Summary of Molecular Genetic Testing Used in Glycine Encephalopathy].

G. Scharer, C. Coughlin, J. Hove, 2013 .

A new mutation in MT-ND1 m.3928G>C p.V208L causes Leigh disease with infantile spasms.

J. V. Van Hove, G. Scharer, Carter D Wray, 2013, Mitochondrion.

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

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

Late‐onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsychiatric disturbance

C. Morel, D. Rosenblatt, A. Tsai, 2007, American journal of medical genetics. Part A.

Mutation detection in DNA isolated from cerebrospinal fluid and urine: Clinical utility and pitfalls of multiple displacement amplification.

P. Waters, B. Plecko, S. Stockler-Ipsiroglu, 2009, Molecular genetics and metabolism.

A novel FOXF1 mutation associated with alveolar capillary dysplasia and coexisting colobomas and hemihyperplasia

M. Waknitz, J. Southern, D. Dimmock, 2015, Journal of Perinatology.

A novel variant of TNNC1 associated with severe dilated cardiomyopathy causing infant mortality and stillbirth: a case of germline mosaicism

A. Lehman, H. Reddi, G. Scharer, 2023, Journal of Genetics.

Characterization of complex structural variation in the CYP2D6-CYP2D7-CYP2D8 gene loci using single-molecule long-read sequencing

U. Broeckel, A. Gaedigk, M. Berres, 2023, Frontiers in Pharmacology.

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.

Expanding the genotype–phenotype correlation in subtelomeric 19p13.3 microdeletions using high resolution clinical chromosomal microarray analysis

P. Stankiewicz, Ankita Patel, M. Bull, 2013, American journal of medical genetics. Part A.

Genomics in Clinical Practice: Lessons from the Front Lines

Jeremy M. Harris, H. Jacob, M. Shimoyama, 2013, Science Translational Medicine.

BAG3 myofibrillar myopathy presenting with cardiomyopathy

J. Southern, G. Geddes, R. Kliegman, 2015, Neuromuscular Disorders.

Response to Grosse et al.

Laurie D. Smith, Scott D. Kahn, G. Del Angel, 2023, American Journal of Human Genetics.