S. Demuth

发表

One test for all: whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver–Russell syndrome

T. Eggermann, P. Kroisel, U. Schara, 2021, Orphanet Journal of Rare Diseases.

Unravelling the etiology of sporadic late-onset cerebellar ataxia in a cohort of 205 patients: a prospective study

Francois R. Lamy, S. Kremer, C. Cazeneuve, 2022, Journal of Neurology.

Maternal isodisomy for chromosome 9 causing homozygosity for a novel FOXE1 mutation in syndromic congenital hypothyroidism.

U. Mallya, F. Raymond, J. Schwabe, 2010, The Journal of clinical endocrinology and metabolism.

Inherited cases of CNOT3‐associated intellectual developmental disorder with speech delay, autism, and dysmorphic facies

K. Zerres, T. Eggermann, I. Kurth, 2020, Clinical genetics.

Identification of new mutations in the TBX5 gene in patients with Holt-Oram syndrome

S. Mundlos, W. Heinritz, U. Froster, 2005, Heart.

Unravelling the etiology of sporadic late-onset cerebellar ataxia in a cohort of 205 patients: a prospective study

Francois R. Lamy, S. Kremer, C. Cazeneuve, 2022, Journal of Neurology.

Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3

Robert W. Taylor, P. Chinnery, Hanns Lochmüller, 2011, Journal of Neurology, Neurosurgery & Psychiatry.

Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes.

Douglas P. Larsen, D. Nickerson, M. Bamshad, 2018, American journal of human genetics.

Maternal UPD 20 in a hyperactive child with severe growth retardation

G. Senger, I. Hansmann, I. Chudoba, 1999, European Journal of Human Genetics.

A mutation screen in patients with Kabuki syndrome

D. Wieczorek, Yun Li, G. Yigit, 2011, Human Genetics.

Shprintzen–Goldberg syndrome: Fourteen new patients and a clinical analysis

P. Robinson, S. Tinschert, L. Neumann, 2005, American journal of medical genetics. Part A.

Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome in a Girl with Chromosome Translocation t(2;3)(q33;q23)

H. Ropers, V. Kalscheuer, A. Tzschach, 2008, Ophthalmic genetics.

C2orf69 mutations disrupt mitochondrial function and cause a multisystem human disorder with recurring autoinflammation.

C. Sommer, C. Libioulle, A. Borkhardt, 2021, The Journal of clinical investigation.

A human multisystem disorder with autoinflammation, leukoencephalopathy and hepatopathy is caused by mutations in C2orf69

C. Sommer, C. Libioulle, A. Borkhardt, 2021, medRxiv.

Mutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial disease.

V. Tiranti, M. Zeviani, A. Zvulunov, 2012, American journal of human genetics.

A previously unrecognised phenotype characterised by obesity, muscular hypotonia, and ability to speak in patients with Angelman syndrome caused by an imprinting defect

B. Horsthemke, G. Gillessen‐kaesbach, H. Thiele, 1999, European Journal of Human Genetics.

Clinico‐Genetic, Imaging and Molecular Delineation of COQ8A ‐Ataxia: A Multicenter Study of 59 Patients

B. Bender, G. Vasco, A. Durr, 2020, Annals of neurology.

Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome

P. Robinson, D. Horn, D. Wieczorek, 2013, European Journal of Human Genetics.

Alternative splicing of dystrophin mRNA complicates carrier determination: report of a DMD family.

A. Speer, S. Demuth, U. Lenk, 1993, Journal of medical genetics.

Severely impaired respiratory chain causes multisystem apoptosis-driven developmental defects, a new mitochondrial phenotype in vertebrates

P. Bovolenta, V. Tiranti, M. Zeviani, 2012 .