M. Basehore

发表

NGS Improves the Diagnosis of X-Linked Intellectual Disability (XLID)

M. Friez, M. Basehore, 2013 .

Novel mutation in TP63 associated with ectrodactyly ectodermal dysplasia and clefting syndrome and T cell lymphopenia

P. Giampietro, C. Seroogy, Julie R. Jones, 2013, American journal of medical genetics. Part A.

HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study

M. Shaw, J. Gécz, P. Tarpey, 2016, BMJ Open.

Identification of a novel insertion mutation in FGFR3 that causes thanatophoric dysplasia type 1

M. Friez, P. Willems, Amanda S. Lindy, 2016, American journal of medical genetics. Part A.

Molecular Analysis of Fragile X Syndrome

M. Friez, M. Basehore, 2014, Current protocols in human genetics.

Validation of a screening tool for the rapid and reliable detection of CGG trinucleotide repeat expansions in FMR1.

M. Friez, N. Marlowe, Julie R. Jones, 2012, Genetic testing and molecular biomarkers.

Truncating mutations in LRP4 lead to a prenatal lethal form of Cenani–Lenz syndrome

R. Stevenson, M. Friez, Amanda S. Lindy, 2014, American journal of medical genetics. Part A.

Classic phenotype of Coffin–lowry syndrome in a female with stimulus‐induced drop episodes and a genotype with preserved N‐terminal kinase domain

K. Rojnueangnit, N. Robin, Julie R. Jones, 2014, American journal of medical genetics. Part A.

Making a definitive diagnosis: Successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease

David P Bick, David P Dimmock, Ulrich Broeckel, 2011, Genetics in Medicine.

Developmental Delay: Gene Testing

M. Friez, K. Champion, M. Basehore, 2016 .

A comprehensive evaluation of IL4 variants in ethnically diverse populations: association of total serum IgE levels and asthma in white subjects.

E. Bleecker, W. Moore, D. Meyers, 2004, The Journal of allergy and clinical immunology.

Identification and characterization of a novel homozygous deletion in the alpha-N-acetylglucosaminidase gene in a patient with Sanfilippo type B syndrome (mucopolysaccharidosis IIIB).

P. Vannuffel, A. Destrée, I. Maystadt, 2010, Molecular genetics and metabolism.

New observation of sialuria prompts detection of liver tumor in previously reported patient.

R. Stevenson, M. Huizing, Nansheng Chen, 2016, Molecular genetics and metabolism.

Severe, fatal multisystem manifestations in a patient with dolichol kinase-congenital disorder of glycosylation.

M. Hegde, H. Freeze, J. Abdenur, 2013, Molecular genetics and metabolism.

Promoter Polymorphisms in the Nitric Oxide Synthase 3 Gene Are Associated With Ischemic Stroke Susceptibility in Young Black Women

R. Macko, Jianfeng Xu, S. Kittner, 2005, Stroke.

Molecular Analysis of Fragile X Syndrome

M. Friez, M. Basehore, 2009, Current protocols in human genetics.

With Ischemic Stroke Susceptibility in Young Black Women Promoter Polymorphisms in the Nitric Oxide Synthase 3 Gene Are Associated

R. Macko, Jianfeng Xu, L. Lange, 2005 .

Infrequency of two deletion mutations at the DFNB1 locus in patients and controls

P. Fang, B. Roa, J. Oghalai, 2008, American journal of medical genetics. Part A.

Cognitive correlates of a functional COMT polymorphism in children with 22q11.2 deletion syndrome

M. Keshavan, V. Shashi, T. Kwapil, 2006, Clinical genetics.

A Case of Progressive Quadriceps Weakness and Elevated Creatine Kinase Level Mimicking Inclusion Body Myositis

A. Mammen, Amanda S. Lindy, D. Leung, 2014, Arthritis care & research.