S. Halbach

发表

Expanding the spectrum of microdeletion 4q21 syndrome: A partial phenotype with incomplete deletion of the minimal critical region and a new association with cleft palate and pierre robin sequence

E. Zackai, D. Waggoner, D. McDonald-McGinn, 2013, American journal of medical genetics. Part A.

Syndromic craniosynostosis associated with microdeletion of chromosome 19p13.12–19p13.2

E. Thorland, D. Waggoner, R. Reid, 2015, Genes & diseases.

Germline Mutations in RASA1 Are Not Found in Patients with Klippel-Trenaunay Syndrome or Capillary Malformation with Limb Overgrowth

J. Mulliken, M. Vikkula, F. Forzano, 2013, Molecular Syndromology.

Quantitative analysis of the natural history of prolidase deficiency: description of 17 families and systematic review of published cases

Christina Lam, C. Ferreira, A. Freeman, 2021, Genetics in Medicine.

Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder

J. Rosenfeld, S. Schwartz, L. Shaffer, 2013, European Journal of Human Genetics.

The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant

Bradley P. Coe, Jessie H. Conta, B. Coe, 2015, European Journal of Human Genetics.

RAD21 mutations cause a human cohesinopathy.

I. Krantz, H. Hakonarson, M. McKay, 2012, American journal of human genetics.

A recurrent de novo CTBP1 mutation is associated with developmental delay, hypotonia, ataxia, and tooth enamel defects

W. Chung, Yufeng Shen, M. Shinawi, 2016, neurogenetics.

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.

L. Vissers, E. Zackai, D. Nickerson, 2019, Brain : a journal of neurology.

4q21 microdeletion in a patient with epilepsy and brain malformations

D. Waggoner, S. Halbach, M. McNamara, 2015, American journal of medical genetics. Part A.

H. Rehm, C. Eskey, J. Saunders, 2016, Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology.

A 3.1-Mb microdeletion of 3p21.31 associated with cortical blindness, cleft lip, CNS abnormalities, and developmental delay.

E. Zackai, C. Haldeman-Englert, T. Shaikh, 2009, European journal of medical genetics.

Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals

S. Ellard, Soma Das, L. Burrage, 2018, Genetics in Medicine.

Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals

S. Ellard, Soma Das, L. Burrage, 2018, Genetics in Medicine.

Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals

S. Ellard, Soma Das, L. Burrage, 2018, Genetics in Medicine.

RAD21 mutations cause a human cohesinopathy.

I. Krantz, H. Hakonarson, M. McKay, 2012, American journal of human genetics.