E. Guzmán

发表

Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.

J. Rosenfeld, I. Scheffer, H. Mefford, 2016, American journal of human genetics.

A central role of plasmin in cardiac injury initiated by fetal exposure to maternal anti-Ro autoantibodies.

M. Halushka, J. Buyon, R. Clancy, 2013, Rheumatology.

ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature

N. Brunetti‐Pierri, M. Mansukhani, F. Santos-Simarro, 2021, American journal of medical genetics. Part A.

FTO variant associated with malformation syndrome

M. Ganapathi, K. Anyane-Yeboa, E. Guzmán, 2016, American journal of medical genetics. Part A.

Use of DELTA-CO2 as Predictor of Ventilatory Failure

E. Guzmán, V. Castro, Gema Lizeth Gómez Hdez, 2018 .

Impact of patient education videos on genetic counseling outcomes after exome sequencing.

W. Chung, P. Appelbaum, J. Wynn, 2020, Patient education and counseling.

Homozygosity for multiple contiguous single-nucleotide polymorphisms as an indicator of large heterozygous deletions: identification of a novel heterozygous 8-kb intragenic deletion (IVS7-19 to IVS15-17) in a patient with glycogen storage disease type II.

K. Anyane-Yeboa, E. Guzmán, R. Hirschhorn, 2002, American journal of human genetics.

The usefulness of whole-exome sequencing in routine clinical practice

Julia Wynn, Wendy K. Chung, W. Chung, 2014, Genetics in Medicine.

Homozygous noncanonical splice variant in LSM1 in two siblings with multiple congenital anomalies and global developmental delay

W. Chung, Z. Valivullah, K. Anyane-Yeboa, 2019, Cold Spring Harbor molecular case studies.

Diagnostic exome sequencing in children: A survey of parental understanding, experience and psychological impact

P. Appelbaum, J. Wynn, R. Ottman, 2018, Clinical genetics.

Phenotypic spectrum of the recurrent TRPM3 p.(Val837Met) substitution in seven individuals with global developmental delay and hypotonia

A. Bayat, S. Srivastava, S. McKee, 2022, American journal of medical genetics. Part A.

COVID-19’s Impact on Genetics at One Medical Center in New York

W. Chung, R. Wapner, E. Griffin, 2020, Genetics in Medicine.

Association of candidate genes with nonsyndromic clefts in Honduran and Colombian populations

W. Chung, G. Su, S. Eisig, 2012, The Laryngoscope.

Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease

Rebecca C. Spillmann, Q. K. Tan, J. Lupski, 2023, medRxiv.

Rare inheritance of Leri-Weill Syndrome due to crossover of short stature Homeobox Gene (SHOX) Deletions between X and Y Chromosomes: a case report

R. Wapner, Marisa Censani, K. Anyane-Yeboa, 2013, International Journal of Pediatric Endocrinology.