K. Monaghan

A. Levin, M. Abouljoud, S. Gordon, 2015, Journal of interferon & cytokine research : the official journal of the International Society for Interferon and Cytokine Research.

Bioelectronic sensor technology for detection of cystic fibrosis and hereditary hemochromatosis mutations.

Victoria M Pratt, Jeanne C Beck, D. H. Farkas, 2003, Archives of pathology & laboratory medicine.

Erratum: De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder (American Journal of Human Genetics (2017) 100(2) (352–363) (S0002929717300034) (10.1016/j.ajhg.2017.01.003))

Stephan J Sanders, R. Redon, J. Rosenfeld, 2017 .

Semaphorin-Plexin Signaling: From Axonal Guidance to a New X-Linked Intellectual Disability Syndrome.

M. M. Morrow, M. Shinawi, D. Chitayat, 2021, Pediatric neurology.

Genotypic resistance testing in HIV-infected pregnant women in an urban setting

K. Monaghan, M. Crane, J. McGowan, 2004 .

A recurrent, de novo pathogenic variant in ARPC4 disrupts actin filament formation and causes microcephaly and speech delay

H. Mefford, F. Brancati, M. McDonald, 2021, HGG advances.

Genotypic resistance testing in HIV-infected pregnant women in an urban setting

K. Monaghan, M. Crane, J. McGowan, 2004, International journal of STD & AIDS.

Loss-of-Function Mutations in LGI4, a Secreted Ligand Involved in Schwann Cell Myelination, Are Responsible for Arthrogryposis Multiplex Congenita.

B. Venkatesh, M. Gut, I. Gut, 2017, American journal of human genetics.

Risk categorization for oversight of laboratory-developed tests for inherited conditions: an updated position statement of the American College of Medical Genetics and Genomics (ACMG)

S. South, M. Watson, V. Sutton, 2020, Genetics in Medicine.

U. Brinkmann, J. Stoler, F. Alkuraya, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Is Cystic Fibrosis Carrier Screening Cost Effective?

K. Monaghan, M. Quigg, S. Wei, 2007, Public Health Genomics.

Updated recommendations for CFTR carrier screening: A position statement of the American College of Medical Genetics and Genomics (ACMG).

Joshua L. Deignan, W. Grody, H. Kearney, 2023, Genetics in medicine : official journal of the American College of Medical Genetics.

Y. Akkari, K. Monaghan, J. Malinowski, 2023, Genetics in medicine : official journal of the American College of Medical Genetics.

Genotype-phenotype correlation and frequency of the 3199del6 cystic fibrosis mutation among I148T carriers: Results from a collaborative study

Weimin Sun, C. Strom, M. Friez, 2004, Genetics in Medicine.

Frequency and clinical significance of the S1235R mutation in the cystic fibrosis transmembrane conductance regulator gene: results from a collaborative study.

G. Feldman, K. Snow, T. Desai, 2000 .

Germline E-cadherin mutations in hereditary diffuse gastric cancer: assessment of 42 new families and review of genetic screening criteria

W. Foulkes, Y. Butterfield, C. Caldas, 2004, Journal of Medical Genetics.

Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures

G. Cooper, S. Papuc, J. Schreiber, 2019, European Journal of Human Genetics.

American College of Medical Genetics STANDARDS AND GUIDELINES FOR CLINICAL GENETICS LABORATORIES

W. Grody, G. Feldman, K. Monaghan, 2011 .

Calcitonin in tissues of thyroidectomized monkey

K. Becker, K. Monaghan, G. Geelhoed, 1980, Experientia.

De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features.

A. Telegrafi, C. Phornphutkul, M. Osmond, 2024, American journal of human genetics.