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Author Details

Gert Matthijs
Center for Human Genetics, KU Leuven and University Hospitals Leuven
1986
338
68
Nevan J Krogan (CM4AI)
PMIDPaper TitleJournal TitlePublished Year
36788144Experiences of nonpregnant couples after receiving reproductive genetic carrier screening results in Belgium.Eur J Hum Genet2023
37601858Hydroxyurea treatment for adult sickle cell anemia patients in Kinshasa.EJHaem2023
37014748Clinical and biological profile of Sickle Cell Anemia children in a rural area in Central Africa.Hematology2023
36788144Experiences of nonpregnant couples after receiving reproductive genetic carrier screening results in Belgium.Eur J Hum Genet2023
37601858Hydroxyurea treatment for adult sickle cell anemia patients in Kinshasa.EJHaem2023
37014748Clinical and biological profile of Sickle Cell Anemia children in a rural area in Central Africa.Hematology2023
35262690CAMLG-CDG: a novel congenital disorder of glycosylation linked to defective membrane trafficking.Hum Mol Genet2022
35906131Exploring informed choice in preconception reproductive genetic carrier screening by using a modified Multidimensional Measure of Informed Choice.Patient Educ Couns2022
35577938Recommendations for whole genome sequencing in diagnostics for rare diseases.Eur J Hum Genet2022
35385167Reasons affecting the uptake of reproductive genetic carrier screening among nonpregnant reproductive-aged women in Flanders (Belgium).J Genet Couns2022
36221102A PMM2-CDG caused by an A108V mutation associated with a heterozygous 70 kilobases deletion case report.Ital J Pediatr2022
35819088Value of DNA testing in the diagnosis of sickle-cell anemia in childhood in an environment with a high prevalence of other causes of anemia.J Clin Lab Anal2022
35405024DNA testing for sickle cell anemia in Africa: Implementation choices for the Democratic Republic of Congo.J Clin Lab Anal2022
36525434Clinical and laboratory characterization of adult sickle cell anemia patients in Kinshasa.PLoS One2022
35338706CDG or not CDG.J Inherit Metab Dis2022
35182234Lack of NKG2D in MAGT1-deficient patients is caused by hypoglycosylation.Hum Genet2022
35304601Knowledge, attitudes and preferences regarding reproductive genetic carrier screening among reproductive-aged men and women in Flanders (Belgium).Eur J Hum Genet2022
35262690CAMLG-CDG: a novel congenital disorder of glycosylation linked to defective membrane trafficking.Hum Mol Genet2022
35068072COG6-CDG: Novel variants and novel malformation.Birth Defects Res2022
35405024DNA testing for sickle cell anemia in Africa: Implementation choices for the Democratic Republic of Congo.J Clin Lab Anal2022
35577938Recommendations for whole genome sequencing in diagnostics for rare diseases.Eur J Hum Genet2022
35819088Value of DNA testing in the diagnosis of sickle-cell anemia in childhood in an environment with a high prevalence of other causes of anemia.J Clin Lab Anal2022
35385167Reasons affecting the uptake of reproductive genetic carrier screening among nonpregnant reproductive-aged women in Flanders (Belgium).J Genet Couns2022
36525434Clinical and laboratory characterization of adult sickle cell anemia patients in Kinshasa.PLoS One2022
35906131Exploring informed choice in preconception reproductive genetic carrier screening by using a modified Multidimensional Measure of Informed Choice.Patient Educ Couns2022
36221102A PMM2-CDG caused by an A108V mutation associated with a heterozygous 70 kilobases deletion case report.Ital J Pediatr2022
35068072COG6-CDG: Novel variants and novel malformation.Birth Defects Res2022
35182234Lack of NKG2D in MAGT1-deficient patients is caused by hypoglycosylation.Hum Genet2022
35304601Knowledge, attitudes and preferences regarding reproductive genetic carrier screening among reproductive-aged men and women in Flanders (Belgium).Eur J Hum Genet2022
35338706CDG or not CDG.J Inherit Metab Dis2022
33340551Congenital Disorders of Glycosylation in Portugal-Two Decades of Experience.J Pediatr2021
34162022MAN1B1-CDG: novel patients and novel variant.J Pediatr Endocrinol Metab2021
33889819Aberrant sialylation in a patient with a <i>HNF1α</i> variant and liver adenomatosis.iScience2021
33619652Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG).Cerebellum2021
33728255SLC37A4-CDG: Second patient.JIMD Rep2021
34086508Expanded carrier screening in Flanders (Belgium): an online survey on the perspectives of nonpregnant reproductive-aged women.Per Med2021
33552911SLC35A2-CDG: Novel variant and review.Mol Genet Metab Rep2021
34358634The evolving genetic landscape of congenital disorders of glycosylation.Biochim Biophys Acta Gen Subj2021
33340551Congenital Disorders of Glycosylation in Portugal-Two Decades of Experience.J Pediatr2021
34653363Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings.Am J Hum Genet2021
33619652Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG).Cerebellum2021
33728255SLC37A4-CDG: Second patient.JIMD Rep2021
33889819Aberrant sialylation in a patient with a <i>HNF1α</i> variant and liver adenomatosis.iScience2021
33552911SLC35A2-CDG: Novel variant and review.Mol Genet Metab Rep2021
34653363Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings.Am J Hum Genet2021
34162022MAN1B1-CDG: novel patients and novel variant.J Pediatr Endocrinol Metab2021
34358634The evolving genetic landscape of congenital disorders of glycosylation.Biochim Biophys Acta Gen Subj2021
34086508Expanded carrier screening in Flanders (Belgium): an online survey on the perspectives of nonpregnant reproductive-aged women.Per Med2021
32424323SRD5A3 defective congenital disorder of glycosylation: clinical utility gene card.Eur J Hum Genet2020
32424323SRD5A3 defective congenital disorder of glycosylation: clinical utility gene card.Eur J Hum Genet2020
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Collaborators

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University Children's Hospital Munster
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An Goris
Co-authored papers 4
S??gol??ne Aym??
Paris Brain Institute-ICM, Inserm U 7, CNRS UMR 7225, Sorbonne Universite
Co-authored papers 3
Janine Reunert
University Children's Hospital Munster
Co-authored papers 3
Diether Lambrechts
Co-authored papers 3
Andres Metspalu
Co-authored papers 3
Kimiyo Raymond
Co-authored papers 3
Sergi Beltran
Hospital Universitari Vall d'Hebron
Co-authored papers 3
Hui Zhao
College of Life Sciences, University of Chinese Academy of Sciences
Co-authored papers 3
Hubert J M Smeets
Maastricht University Medical Centre+
Co-authored papers 3
Riet Bammens
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