K. Jackson

发表

Phenotypic heterogeneity of genomic disorders and rare copy-number variants.

Donna M. Martin, B. Coe, J. Rosenfeld, 2012, The New England journal of medicine.

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

Klaus Lehnert, Holger Lerche, Annapurna Poduri, 2018, American journal of human genetics.

Medical genetic test reporting for cystic fibrosis (ΔF508) and factor V Leiden in North American laboratories

J. Rice, H. Andersson, M. Krousel‐Wood, 2002, Genetics in Medicine.

Immunodeficiency, centromeric region instability, facial anomalies syndrome (ICF)

M. Ehrlich, K. Jackson, C. Weemaes, 2006, Orphanet journal of rare diseases.

Phenotypic features in a boy with monosomy 18 mosaicism.

M. Marble, F. Tsien, K. Jackson, 2000, American journal of medical genetics.

Newborn screening for Pompe disease: Parental experiences and follow‐up care for a late‐onset diagnosis

K. Jackson, Jeremy D. Penn, L. Dean, 2022, Journal of genetic counseling.

Identification of a rare de novo three-way complex t(5;20;8)(q31;p11.2;p21) with microdeletions on 5q31.2, 5q31.3, and 8p23.2 in a patient with hearing loss and global developmental delay: case report

L. Shaffer, B. Bejjani, K. Jackson, 2009, Molecular Cytogenetics.

Trisomy 1q43 syndrome: a consistent phenotype with macrocephaly, characteristic face, developmental delay and cardiac anomalies.

M. Marble, E. Morava, F. Tsien, 2004, Genetic Counseling.

Diagnosis of Classic Homocystinuria in Two Boys Presenting with Acute Cerebral Venous Thrombosis and Neurologic Dysfunction after Normal Newborn Screening

A. Asamoah, K. Jackson, J. Hersh, 2021, International journal of neonatal screening.

Discovery of a previously unrecognized microdeletion syndrome of 16p11.2–p12.2

U. Surti, L. Shaffer, E. Zackai, 2007, Nature Genetics.

Neurotransmitter Abnormalities and Response to Supplementation in Spg11 Nih Public Access Author Manuscript

Rena A. Godfrey, A. Vanderver, M. Patterson, 2022 .

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.

Matthew H. Brush, David R. Murdock, Jean M. Davidson, 2019, Biological psychiatry.

Genome sequencing as a first-line diagnostic test for hospitalized infants.

G. Barsh, G. Cooper, B. Korf, 2021, Genetics in medicine : official journal of the American College of Medical Genetics.

A female infant with hypotonia, developmental delay, transitional hearing loss and 22q13.1 deletion

Marilyn M. Li, H. Andersson, K. Jackson, 2006 .

Heme and sensory neuropathy: insights from novel mutations in the heme exporter feline leukemia virus subgroup C receptor 1

F. Altruda, E. Tolosano, E. Bellacchio, 2019, Pain.

45,X/47,XX,+18 and ring (18) mosaicism with mild phenotypic features including normal stature: clinical report and review of the literature.

M. Marble, K. Jackson, Robin R Mcgoey, 2009, Clinical dysmorphology.

Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes

Matthew J. Thomas, J. Rosenfeld, B. Torchia, 2012, European Journal of Human Genetics.

Physicians’ perceived usefulness of and satisfaction with test reports for cystic fibrosis (ΔF508) and factor V Leiden

Ira M Lubin, Marie Krousel-Wood, J. Rice, 2003, Genetics in Medicine.

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

I. Scheffer, H. Mefford, E. Haan, 2019, American Journal of Human Genetics.

Phenotypic heterogeneity of genomic disorders and rare copy-number variants.

Bradley P. Coe, Donna M. Martin, J. Rosenfeld, 2012, The New England journal of medicine.

Arginine to ornithine ratio as a diagnostic marker in patients with positive newborn screening for hyperargininemia

S. Cederbaum, C. Rowland, P. Tanpaiboon, 2021, Molecular genetics and metabolism reports.

Neurotransmitter abnormalities and response to supplementation in SPG11.

Rena A. Godfrey, A. Vanderver, M. Patterson, 2012, Molecular genetics and metabolism.

The mouse intestinal fatty acid binding protein gene: nucleotide sequence, pattern of developmental and regional expression, and proposed structure of its protein product.

J. Gordon, J. Sacchettini, S. Cohn, 1992, DNA and cell biology.