L. Demmer

发表

Recommendations for the integration of genomics into clinical practice

D. Ledbetter, I. Krantz, N. Spinner, 2016, Genetics in Medicine.

Systematic evidence-based review: outcomes from exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability

David T. Miller, L. Demmer, M. Scheuner, 2020, Genetics in Medicine.

Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome

H. Hakonarson, R. Stevenson, C. Schwartz, 2019, Clinical Epigenetics.

Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia.

Urvashi Surti, Swaroop Aradhya, Margaret P Adam, 2010, American journal of human genetics.

Tissue-specific expression and developmental regulation of the rat apolipoprotein B gene.

J. Gordon, A. Lusis, L. Demmer, 1986, Proceedings of the National Academy of Sciences of the United States of America.

Cornelia de Lange syndrome in diverse populations

A. R. Porras, I. Krantz, E. Roeder, 2019, American journal of medical genetics. Part A.

A description of spina bifida cases and co‐occurring malformations, 1976–2011

M. Werler, A. Mitchell, L. Demmer, 2014, American journal of medical genetics. Part A.

Erratum: Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia (The American Journal of Human Genetics (2010) 87 (618-630))

Stephan J Sanders, D. Ledbetter, U. Surti, 2011 .

Expanding the SHOC2 mutation associated phenotype of noonan syndrome with loose anagen hair: Structural brain anomalies and myelofibrosis

E. Zackai, K. Gripp, W. Dobyns, 2013, American journal of medical genetics. Part A.

Genetics for the Pediatric Anesthesiologist: A Primer on Congenital Malformations, Pharmacogenetics, and Proteomics

L. Demmer, M. Yaster, J. Galinkin, 2010, Anesthesia and analgesia.

Frasier syndrome: a cause of focal segmental glomerulosclerosis in a 46,XX female.

L. Demmer, Rosalind S. Brown, K. McElreavey, 1999, Journal of the American Society of Nephrology : JASN.

Effect of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stress.

M. Seashore, S. Waisbren, M. Msall, 2004, JAMA.

The cellular retinol binding protein II gene. Sequence analysis of the rat gene, chromosomal localization in mice and humans, and documentation of its close linkage to the cellular retinol binding protein gene.

T. Mohandas, J. Gordon, L. Demmer, 1987, The Journal of biological chemistry.

Recommendations for the integration of genomics into clinical practice

D. Ledbetter, I. Krantz, N. Spinner, 2016, Genetics in Medicine.

Knowledge of ethical standards in genetic testing among medical students, residents, and practicing physicians.

L. Demmer, M. Clay, M. O'Neill, 2000, JAMA.

An unusual case of nephrotic syndrome in a microcephalic infant: Questions

L. Demmer, J. Juusola, D. Weaver, 2019, Pediatric Nephrology.

An unusual case of nephrotic syndrome in a microcephalic infant: Answers

L. Demmer, J. Juusola, D. Weaver, 2019, Pediatric Nephrology.

Noonan syndrome due to a SHOC2 mutation presenting with fetal distress and fatal hypertrophic cardiomyopathy in a premature infant

B. Shephard, A. Roberts, L. Demmer, 2012, American journal of medical genetics. Part A.

The etiology of thyroid dysgenesis-still an enigma after all these years.

L. Demmer, Rosalind S. Brown, 2002, The Journal of clinical endocrinology and metabolism.

Maternal tea consumption during early pregnancy and the risk of spina bifida.

M. Werler, A. Mitchell, L. Demmer, 2012, Birth defects research. Part A, Clinical and molecular teratology.

Effect of Expanded Newborn Screening for Biochemical Genetic Disorders on Child Outcomes and Parental Stress

Edwin W. Naylor, Michael E. Msall, M. Seashore, 2003 .

Prenatal features of Costello syndrome: ultrasonographic findings and atrial tachycardia

C. Berul, K. Gripp, A. Lin, 2009, Prenatal diagnosis.

Keratoconus in Costello Syndrome

K. Gripp, L. Demmer, 2013, American journal of medical genetics. Part A.

Rat cellular retinol-binding protein II: use of a cloned cDNA to define its primary structure, tissue-specific expression, and developmental regulation.

J. Gordon, L. Demmer, D. Sweetser, 1986, Proceedings of the National Academy of Sciences of the United States of America.

Mouse model implicates GNB3 duplication in a childhood obesity syndrome

Richard T. Barfield, J. Rosenfeld, L. Shaffer, 2013, Proceedings of the National Academy of Sciences.

Clinical Genetic Testing for Patients With Autism Spectrum Disorders

Sharyn A. Lincoln, C. Walsh, K. Miller, 2010, Pediatrics.

Systematic evidence-based review: outcomes from exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability

David T. Miller, L. Demmer, M. Scheuner, 2020, Genetics in Medicine.

Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome

H. Hakonarson, R. Stevenson, C. Schwartz, 2019, Clinical Epigenetics.

Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities.

T. Meitinger, T. Strom, P. Lichtner, 2020, American journal of human genetics.

Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability

A. Pagnamenta, B. Chung, S. Guter, 2021, Journal of Medical Genetics.

Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)

Danny E Miller, T. Yu, H. Kearney, 2021, Genetics in Medicine.

Male‐to‐male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicism

K. Gripp, A. Lin, L. Demmer, 2009, American journal of medical genetics. Part A.

De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies.

H. Mandel, S. Edwards, K. Miller, 2019, American journal of human genetics.

Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder

Michael T. Zimmermann, Nikita R. Dsouza, A. Green, 2020, Genetics in Medicine.

M. Reijnders, D. Segal, E. Wirrell, 2021, Neurology. Genetics.

Mutation spectrum in the large GTPase dynamin 2, and genotype–phenotype correlation in autosomal dominant centronuclear myopathy

Jocelyn Laporte, Luciano Merlini, Christophe Béroud, 2012, Human mutation.

The natural history of trisomy 12p

J. Hoffman, L. Demmer, D. Bianchi, 2006, American journal of medical genetics. Part A.

Grouped papules in Hurler-Scheie syndrome.

L. Demmer, S. Mallory, S. Dowton, 1996, Journal of the American Academy of Dermatology.

ALG1‐CDG: Clinical and Molecular Characterization of 39 Unreported Patients

J. Shendure, D. Nickerson, Martin Kircher, 2016, Human mutation.

Lessons learned from the introduction of personalized genotyping into a medical school curriculum

D. Walt, L. Demmer, D. Bianchi, 2011, Genetics in Medicine.

Spectrum of KV2.1 Dysfunction in KCNB1‐Associated Neurodevelopmental Disorders

Ethan M. Goldberg, Katarina L. Fabre, Robert P. Carson, 2019, Annals of neurology.

Professional medical education and genomics.

L. Demmer, D. Waggoner, 2014, Annual review of genomics and human genetics.

High throughput Characterization of KCNB1 variants Associated with Developmental and Epileptic Encephalopathy

Ethan M. Goldberg, Katarina L. Fabre, Robert P. Carson, 2019, bioRxiv.

Genetic Syndromes Determined by Alterations in Genomic Imprinting Pathways

L. Demmer, Jessica Jonas, 2007 .

Autosomal recessive MFN2‐related Charcot‐Marie‐Tooth disease with diaphragmatic weakness: Case report and literature review

K. Nykamp, L. Demmer, A. Deucher, 2016, American journal of medical genetics. Part A.

Periventricular white matter cystic lesions in Lowe (Oculocerebrorenal) syndrome

L. Demmer, F. Wippold, S. Dowton, 2005, Pediatric Radiology.

POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies.

Lisa A. Lansdon, O. Devinsky, R. Jech, 2023, American journal of human genetics.

Newborn screening compared to clinical identification of biochemical genetic disorders

M. Seashore, S. Waisbren, M. Msall, 2002, Journal of Inherited Metabolic Disease.

Frasier syndrome : a cause of focal segmental glomerulosclerosis in a 46 , XX female Authors

L. Demmer, Rosalind S. Brown, K. McElreavey, 2014 .

Surveying the current landscape of clinical genetics residency training

L. Demmer, R. Saul, Caleb P. Bupp, 2014, Genetics in Medicine.

New England Consortium: A model for medical evaluation of expanded newborn screening with tandem mass spectrometry

M. Seashore, S. Waisbren, L. Demmer, 2001, Journal of Inherited Metabolic Disease.