Heidi A. Thiese

Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome.

E. Zackai, B. Korf, V. Narayanan, 2009, JAMA.

A Copy Number Variation Morbidity Map of Developmental Delay

Gregory M. Cooper, Carl Baker, Evan E. Eichler, 2011, Nature Genetics.

Phenotypic and molecular characterization of 19q12q13.1 deletions: A report of five patients

J. Rosenfeld, B. Torchia, L. Shaffer, 2014, American journal of medical genetics. Part A.

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

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

DLG4-related synaptopathy: a new rare brain disorder

L. Feuk, B. V. van Bon, R. Pfundt, 2021, Genetics in Medicine.

Genotype–phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations

J. Rosenfeld, B. Torchia, U. Surti, 2009, Genetics in Medicine.

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.

I. Krantz, H. Hakonarson, E. Roeder, 2014, Human molecular genetics.

Clinical and molecular characterization of individuals with recurrent genomic disorder at 10q22.3q23.2

B. Torchia, J. Coppinger, B. Bejjani, 2010, Clinical 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.

The reckoning: The return of genomic results to 1444 participants across the eMERGE3 Network.

Marc S. Williams, W. Chung, H. Hakonarson, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.