Richard E. Lutz

发表

Structural brain anomalies in patients with FOXG1 syndrome and in Foxg1+/− mice

A. Leha, H. Omran, D. Mitter, 2019, Annals of clinical and translational neurology.

PIGQ glycosylphosphatidylinositol‐anchored protein deficiency: Characterizing the phenotype

V. Rao, Lois J. Starr, A. Yetman, 2019, American journal of medical genetics. Part A.

Prevalence of Pilomatricoma in Turner Syndrome

A. Armstrong, M. Handler, D. Morrell, 2015 .

Prevalence of pilomatricoma in Turner syndrome: findings from a multicenter study.

A. Armstrong, M. Handler, D. Morrell, 2013, JAMA dermatology.

18q22.3 → 18q23 deletion syndrome and cleft palate

W. Sanger, B. Dave, D. Pickering, 2010, American Journal of Medical Genetics. Part A.

Disruption of CTNND2, encoding delta-catenin, causes a penetrant attention deficit disorder and myopia

A. Wynshaw-Boris, E. Nikkola, J. Picker, 2020, HGG advances.

Trinucleotide repeat disorders.

Richard E. Lutz, 2007, Seminars in pediatric neurology.

Osteogenesis imperfecta caused by PPIB mutation with severe phenotype and congenital hearing loss

P. Esposito, E. Rush, Richard E. Lutz, 2014, Journal of Pediatric Genetics.

FOXG1 syndrome: genotype–phenotype association in 83 patients with FOXG1 variants

A. Fatemi, D. Mitter, N. Hauser, 2017, Genetics in Medicine.

FOXG 1 syndrome : genotype – phenotype association in 83 patients with FOXG 1 variants

A. Fatemi, D. Mitter, N. Hauser, 2017 .

Newborn Screening for X-Linked Adrenoleukodystrophy in Nebraska: Initial Experiences and Challenges

W. Rizzo, J. DiPerna, Richard E. Lutz, 2022, International journal of neonatal screening.

Diagnostic yield in the clinical genetic evaluation of autism spectrum disorders

G. B. Schaefer, Richard E. Lutz, 2006, Genetics in medicine : official journal of the American College of Medical Genetics.

Enzyme-replacement therapy in life-threatening hypophosphatasia.

Nick Bishop, José Luis Millán, Matthew Downs, 2012, The New England journal of medicine.

Capture-based high-coverage NGS: a powerful tool to uncover a wide spectrum of mutation types

Yanming Feng, Victor Wei Zhang, Guoli Wang, 2015, Genetics in Medicine.

Novel PLP1 Mutations Identified With Next-Generation Sequencing Expand the Spectrum of PLP1-Associated Leukodystrophy Clinical Phenotypes

P. Bayrak-Toydemir, K. Voelkerding, R. Margraf, 2018, Child neurology open.

Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene.

C. Rehder, D. Bali, D. A. Weinstein, 2014, Molecular genetics and metabolism.

De novo mutations in POLG presenting with acute liver failure or encephalopathy.

D. Dimmock, A. Basinger, L. Wong, 2009, Journal of pediatric gastroenterology and nutrition.

Sustained efficacy and tolerability in infants and young children with life-threatening hypophosphatasia treated with asfotase alfa

T. Odrljin, N. Bishop, M. Whyte, 2014 .

Hypophosphatasia: Gross Motor Function and Height Improvement in Infants and Young Children Treated with Asfotase Alfa for up to 3 Years

T. Odrljin, N. Bishop, M. Whyte, 2014 .

Physician collaboration involving students with autism spectrum disorders

G. B. Schaefer, C. Ellis, Richard E. Lutz, 2007 .

Evaluation and comparison of safety, convenience and cost of administering intravenous pamidronate infusions to children in the home and ambulatory care settings

E. Rush, Richard E. Lutz, K. DeHaai, 2012, Journal of pediatric endocrinology & metabolism : JPEM.

Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene.

C. Rehder, D. Bali, A. Boneh, 2014, Molecular genetics and metabolism.

Enzyme-replacement therapy in life-threatening hypophosphatasia.

J. Millán, N. Bishop, C. Greenberg, 2012, The New England journal of medicine.