K. Machol

发表

Evidence that FGFRL1 contributes to congenital diaphragmatic hernia development in humans

L. Potocki, A. Brusco, S. Keswani, 2021, American journal of medical genetics. Part A.

Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancer

I. Thiffault, Xiang-Jiao Yang, B. Solomon, 2020, Science Advances.

Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome

Nikita R. Dsouza, Magalie S Leduc, J. Graham, 2022, Genome Medicine.

’ s disease and cerebral sinus vein thrombosis in children : a case study and review of the literature

S. Padeh, Y. Berkun, E. Eisenstein, 2015 .

De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms.

J. Rosenfeld, Yaping Yang, J. Beuten, 2016, American journal of human genetics.

Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration

Karin, A. Need, M. Kayikci, 2022, medRxiv.

Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay.

Rebecca C. Spillmann, J. Rosenfeld, R. Pfundt, 2019, American journal of human genetics.

The proto-oncogene ERG in megakaryoblastic leukemias.

B. Göttgens, J. Pimanda, S. Izraeli, 2005, Cancer research.

Widening of the genetic and clinical spectrum of Lamb–Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency

Eric W. Klee, Ange-Line Bruel, Sophie Nambot, 2019, Genetics in Medicine.

Hearing loss in individuals with osteogenesis imperfecta in North America: Results from a multicenter study

F. Glorieux, P. Byers, V. Sutton, 2019, American journal of medical genetics. Part A.

Cleidocranial Dysplasia Spectrum Disorder

Brendan H. Lee, R. Mendoza-Londono, K. Machol, 1993 .

Corneal clouding, cataract, and colobomas with a novel missense mutation in B4GALT7—a review of eye anomalies in the linkeropathy syndromes

Mahim Jain, F. Scaglia, A. Slavotinek, 2016, American journal of medical genetics. Part A.

FOXI3 pathogenic variants cause one form of craniofacial microsomia

J. Lupski, Xiaogang Wang, S. Antonarakis, 2023, Nature Communications.

Atypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytoma

J. Rosenfeld, J. Jankovic, G. Fuller, 2018, Neurology: Genetics.

Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies

Alyssa A. Tran, R. Gibbs, Mahim Jain, 2016, American journal of medical genetics. Part A.

Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration

A. Need, M. Kayikci, D. Smedley, 2023, American journal of human genetics.

Bi-allelic variants in CEP295 cause Seckel-like syndrome presenting with primary microcephaly, developmental delay, intellectual disability, short stature, craniofacial and digital abnormalities

F. Alkuraya, M. Bekheirnia, Tingting Yu, 2023, EBioMedicine.

The clinical utility and diagnostic implementation of human subject cell transdifferentiation followed by RNA sequencing.

S. Lalani, Hsiao-Tuan Chao, C. Bacino, 2024, American journal of human genetics.

Molecular alterations due to Col5a1 Haploinsufficiency in a mouse model of classic Ehlers Danlos syndrome.

Brendan H. Lee, D. Eyre, D. Keene, 2021, Human molecular genetics.