M. Kibæk

发表

17q12 deletion and duplication syndrome in Denmark—A clinical cohort of 38 patients and review of the literature

L. Sunde, C. Fagerberg, I. Bache, 2016, American journal of medical genetics. Part A.

Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder

R. Weksberg, N. Drouot, Y. Hérault, 2021, Genetics in Medicine.

Integrated exome and transcriptome analysis prioritizes MAP4K4 de novo frameshift variants in autism spectrum disorder as a novel disease–gene association

D. Cacchiarelli, M. Cesana, L. Micale, 2022, Human Genetics.

Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skipping

R. Sachidanandam, A. Krainer, R. Wanders, 2006, Human Genetics.

Mutations affecting the N-terminal domains of SHANK3 point to different pathomechanisms in neurodevelopmental disorders

M. Larsen, C. Fagerberg, I. Barsukov, 2021, bioRxiv.

Compound heterozygous mutations in two different domains of ALDH18A1 do not affect the amino acid levels in a patient with hereditary spastic paraplegia

M. Larsen, K. Brusgaard, A. Lund, 2018, neurogenetics.

Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome.

Susan S. Taylor, I. Scheffer, G. Mortier, 2020, American journal of human genetics.

Is MED13L-related intellectual disability a recognizable syndrome?

M. Larsen, C. Fagerberg, L. Krogh, 2019, European journal of medical genetics.

Choline transporter-like 1 deficiency causes a new type of childhood-onset neurodegeneration.

M. Tarnopolsky, V. Dolinsky, D. Wieczorek, 2019, Brain : a journal of neurology.

Genotype-Phenotype Comparison in POGZ-Related Neurodevelopmental Disorders by Using Clinical Scoring

W. Chung, Kristen Wigby, C. Fagerberg, 2022, Genes.

A case of microdeletion of 19p13 with intellectual disability, hypertrichosis, synophrys, and protruding front teeth.

C. Fagerberg, C. Brasch-Andersen, A. M. Jelsig, 2012, European journal of medical genetics.

The misdiagnosis of epilepsy in children admitted to a tertiary epilepsy centre with paroxysmal events

P. Uldall, J. Alving, P Uldall, 2006, Archives of Disease in Childhood.

Further clinical and molecular characterization of an XLID syndrome associated with BRWD3 variants, a gene implicate in leukemia-related JAK-STAT pathway.

H. Warren, P. Blackburn, L. Ousager, 2022, European journal of medical genetics.

Compound heterozygous mutations in two different domains of ALDH18A1 do not affect the amino acid levels in a patient with hereditary spastic paraplegia

M. Larsen, K. Brusgaard, A. Lund, 2018, neurogenetics.

Chromosomal deletion unmasking a recessive disease: 22q13 deletion syndrome and metachromatic leukodystrophy

M. Schwartz, E. Christensen, M. Kirchhoff, 2009, Clinical genetics.

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.

Saskia M. J. Hopman, L. Vissers, R. Pfundt, 2023, American journal of human genetics.

Is MED13L-related intellectual disability a recognizable syndrome?

M. Larsen, C. Fagerberg, L. Krogh, 2019, European journal of medical genetics.