K. Bosanko

发表

Using facial analysis technology in a typical genetic clinic: experience from 30 individuals from a single institution

K. Gripp, Y. Zarate, K. Bosanko, 2019, Journal of Human Genetics.

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1

Michael F. Wangler, E. Haan, E. Zackai, 2019, Human mutation.

De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability

Michael T. Zimmermann, Nikita R. Dsouza, S. Antonarakis, 2020, Journal of Medical Genetics.

JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome

Frédérick A. Mallette, Dagmar Glatz, V. Aggarwal, 2020, Genetics in Medicine.

Mutation update for the SATB2 gene

Donna M. Martin, Marc S. Williams, E. Roeder, 2019, Human mutation.

Growth in individuals with SATB2‐associated syndrome

Y. Zarate, K. Bosanko, A. Caffrey, 2022, American journal of medical genetics. Part A.

Individuals with SATB2-associated syndrome with and without autism have a recognizable metabolic profile and distinctive cellular energy metabolism alterations

L. Boccuto, R. Pauly, S. Srikanth, 2021, Metabolic brain disease.

Genetic counseling graduate training to address religion and spirituality in clinical practice: A qualitative exploration of programs in North America

N. S. Warren, K. Bosanko, Alise Murray, 2020, Journal of genetic counseling.

Phenotypic modifications of patients with full chromosome aneuploidies and concurrent suspected or confirmed second diagnoses

E. Zackai, R. Ganetzky, G. B. Schaefer, 2015, American journal of medical genetics. Part A.

De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability, and autism

Golder N Wilson, Vikki Stefans, Wendy K. Chung, 2017, Cold Spring Harbor molecular case studies.

Mutation update for the SATB 2 gene

Adeline, Marc S. Williams, E. Roeder, 2019 .

Natural history and genotype‐phenotype correlations in 72 individuals with SATB2‐associated syndrome

Joseph W Ray, Anne M Slavotinek, Elaine Zackai, 2018, American journal of medical genetics. Part A.

COL1A1 and COL1A2 sequencing results in cohort of patients undergoing evaluation for potential child abuse

P. Byers, L. Linam, Xinyu Tang, 2016, American journal of medical genetics. Part A.

Case Report: SATB2-Associated Syndrome Overlapping With Clinical Mitochondrial Disease Presentation: Report of Two Cases

M. Meznaric, R. Ramakrishnaiah, H. Vernon, 2021, Frontiers in Genetics.

Epilepsy and Electroencephalographic Abnormalities in SATB2-Associated Syndrome.

A. Vanderver, J. Fish, T. Pierson, 2020, Pediatric neurology.

Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants

E. Zackai, J. Lupski, R. Gibbs, 2020, Genetics in Medicine.

Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2

J. Fish, David T. Miller, J. Graham, 2020, Clinical genetics.

Less common underlying genetic diagnoses found in a cohort of 139 individuals surgically corrected for craniosynostosis

E. Ocal, Y. Zarate, K. Bosanko, 2018, American journal of medical genetics. Part A.

Quantitative Phenotype Morbidity Description of SATB2-Associated Syndrome

E. Pérez-Palma, Larry D Hartzell, Tobias Brünger, 2023, Human Mutation.

Dental radiographic findings in 18 individuals with SATB2-associated syndrome

J. Fish, Larry D Hartzell, Adam B Johnson, 2018, Clinical Oral Investigations.

A newborn with complex skeletal abnormalities, joint contractures, and bilateral corneal clouding with sclerocornea.

G. B. Schaefer, A. Garnica, E. Sellars, 2014, Seminars in pediatric neurology.

Additional de novo missense genetic variants in NALCN associated with CLIFAHDD syndrome

K. Retterer, J. Juusola, M. Cho, 2017, Clinical genetics.

SATB2‐associated syndrome in adolescents and adults

Y. Zarate, K. Bosanko, A. Caffrey, 2021, American journal of medical genetics. Part A.

First clinical report of an infant with microcephaly and CASC5 mutations

Hanlin Gao, Julie Kaylor, Y. Zarate, 2016, American journal of medical genetics. Part A.

Dental radiographic findings in 18 individuals with SATB2-associated syndrome

J. Fish, Larry D Hartzell, Adam B Johnson, 2018, Clinical Oral Investigations.

Bone health in SATB2‐associated syndrome: Results from a large prospective cohort and recommendations for surveillance

Y. Zarate, K. Bosanko, Jennifer L. Fish, 2023, American journal of medical genetics. Part A.