D. Skidmore

发表

Meier-Gorlin syndrome genotype-phenotype studies

J. Al-Aama, J. Opitz, W. Reardon, 2016 .

Meier–Gorlin syndrome genotype–phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis

J. Al-Aama, J. Opitz, W. Reardon, 2012, European Journal of Human Genetics.

Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia

J. Lupski, R. Gibbs, S. Jhangiani, 2022, Annals of neurology.

Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding Δ1‐pyrroline‐5‐carboxylate synthase (P5CS)

S. Robertson, W. Halliday, D. Chitayat, 2011, American journal of medical genetics. Part A.

Benefit of 5 years of enzyme replacement therapy in advanced late onset Pompe. A case report of misdiagnosis for three decades with acute respiratory failure at presentation

S. Croul, H. Lochmuller, M. Maharaj, 2022, Molecular genetics and metabolism reports.

OBSL1 mutations in 3‐M syndrome are associated with a modulation of IGFBP2 and IGFBP5 expression levels

A. Munnich, H. Stewart, J. Michaud, 2010, Human mutation.

Williams syndrome in a preterm infant with phenotype of Alagille syndrome

L. Shaffer, B. Bejjani, D. Chitayat, 2008, American journal of medical genetics. Part A.

Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome.

E. Zackai, B. Korf, V. Narayanan, 2009, JAMA.

Prenatal diagnosis of a fetus with Proteus syndrome

A. Oviedo, N. Sinha, L. Currie, 2018, Prenatal diagnosis.

The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists

B. Fernandez, B. Knoppers, K. Boycott, 2015, Journal of Medical Genetics.

Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome

Haiyan Jiang, Mark E Samuels, Makoto Matsuoka, 2011, Nature Genetics.

Segment-specific pattern of sympathetic preganglionic projections in the chicken embryo spinal cord is altered by retinoids.

J. Glover, E. B. Ezerman, J. P. Goldblatt, 1998, Proceedings of the National Academy of Sciences of the United States of America.

Case Report of Cardiac Arrest After Succinylcholine in a Child With Muscle-Eye-Brain Disease.

B. Macmanus, D. Skidmore, T. Hackmann, 2017, A & A case reports.

Investigation of NRXN1 deletions: Clinical and molecular characterization

Stephanie E. Vallee, J. Rosenfeld, R. Tervo, 2013, American journal of medical genetics. Part A.

Mutation in the Gene Encoding Ubiquitin Ligase LRSAM1 in Patients with Charcot-Marie-Tooth Disease

T. Benstead, M. Matsuoka, S. Evans, 2010, PLoS genetics.

Prenatal diagnosis of Apert syndrome: report of two cases

D. Chitayat, A. Toi, L. Steele, 2003, Prenatal diagnosis.

Meier–Gorlin syndrome: Growth and secondary sexual development of a microcephalic primordial dwarfism disorder

J. Al-Aama, J. Opitz, W. Reardon, 2012, American journal of medical genetics. Part A.

Valproate-induced pseudoatrophy: expanding the clinical and imaging spectrum.

Ismail S Mohamed, D. Skidmore, Maggie Lovett, 2014, Pediatric neurology.

Prenatal screening for fetal aneuploidy in singleton pregnancies.

N. Okun, D. Chitayat, S. Langlois, 2011, Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstetrique et gynecologie du Canada : JOGC.

OBSL1 mutations in 3‐M syndrome are associated with a modulation of IGFBP2 and IGFBP5 expression levels

A. Munnich, H. Stewart, J. Michaud, 2010, Human mutation.