K. David

发表

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correlation

Ying Liu, Jing Xie, Eric Legius, 2015, Human mutation.

Whole exome sequence analysis of Peters anomaly

K. David, E. Carney, E. Weh, 2014, Human Genetics.

Pediatric clinical exome/genome sequencing and the engagement process: encouraging active conversation with the older child and adolescent: points to consider—a statement of the American College of Medical Genetics and Genomics (ACMG)

B. Wilfond, I. Holm, K. David, 2018, Genetics in Medicine.

Patient re-contact after revision of genomic test results: points to consider—a statement of the American College of Medical Genetics and Genomics (ACMG)

Joshua L. Deignan, David T. Miller, R. Pyeritz, 2018, Genetics in Medicine.

PTPN11 analysis for the prenatal diagnosis of Noonan syndrome in fetuses with abnormal ultrasound findings

H. Ferguson, B. Gelb, L. Edelmann, 2009, Clinical genetics.

Defective ciliogenesis in INPP5E‐related Joubert syndrome

Ellen F. Macnamara, C. Toro, W. Gahl, 2017, American journal of medical genetics. Part A.

Response to Rosenberg et al.

H. Kearney, C. Rehder, K. David, 2013, Genetics in Medicine.

Analysis of urinary cathepsin C for diagnosing Papillon – Lef (cid:1) evre syndrome

A. Vlahou, P. Fergelot, M. Battino, 2016 .

Ethical and Policy Issues in Genetic Testing and Screening of Children

R. Sharp, J. Hoffman, A. Lemke, 2016, Pediatric Clinical Practice Guidelines & Policies.

Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non-syndromic corneal endothelial dystrophy

M. Abramowicz, K. David, F. Meire, 2007, Journal of Medical Genetics.

American College of Medical Genetics and Genomics: standards and guidelines for documenting suspected consanguinity as an incidental finding of genomic testing

H. Kearney, C. Rehder, K. David, 2013, Genetics in Medicine.

Expansion and further delineation of the SETD5 phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetrance

A. Serretti, A. Fatemi, K. Gripp, 2018, Clinical genetics.

Involvement of rabbis in counseling and referral for genetic conditions: results of a survey.

K. David, P. Steiner-Grossman, 1993, American journal of human genetics.

Ethical and Policy Issues in Genetic Testing and Screening of Children

H. Saal, K. David, M. Fallat, 2013, Pediatrics.

Hereditary juvenile cobalamin deficiency caused by mutations in the intrinsic factor gene.

R. Gräsbeck, A. de la Chapelle, L. Faivre, 2005, Proceedings of the National Academy of Sciences of the United States of America.

Exome sequencing identifies novel mutations in C5orf42 in patients with Joubert syndrome with oral–facial–digital anomalies

Julie C. Sapp, L. Biesecker, J. Graham, 2015, Human Genome Variation.

Whole exome sequence analysis of Peters anomaly

K. David, E. Carney, E. Weh, 2014, Human Genetics.

A Case of Beare-Stevenson Syndrome with Unusual Manifestations

K. David, E. Carney, Nitin Ron, 2016, The American journal of case reports.

An 18 Alanine Repeat in a Severe Form of Oculopharyngeal Muscular Dystrophy

G. Rouleau, K. David, P. Dion, 2014, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

Alacrima as a Harbinger of Adrenal Insufficiency in a Child with Allgrove (AAA) Syndrome

K. David, L. Agdere, B. Brown, 2016, The American journal of case reports.

Analysis of urinary cathepsin C for diagnosing Papillon–Lefèvre syndrome

A. Vlahou, P. Fergelot, M. Battino, 2016, The FEBS journal.

The potential use of tumor registry data in the recognition and prevention of hereditary and familial cancer.

K. David, P. Steiner-Grossman, 1991, New York state journal of medicine.

B. Wilfond, I. Holm, K. David, 2018, Genetics in Medicine.

Moving toward more consistency in variant classification and clinical action.

Joshua L. Deignan, K. David, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

American College of Medical Genetics and Genomics: standards and guidelines for documenting suspected consanguinity as an incidental finding of genomic testing

H. Kearney, C. Rehder, K. David, 2013, Genetics in Medicine.