A. Lumaka

发表

A comprehensive clinical and genetic study in 127 patients with ID in Kinshasa, DR Congo

H. Peeters, J. Lupski, S. Jhangiani, 2018, American journal of medical genetics. Part A.

Skinfold over toenail is pathognomonic for the popliteal pterygium syndrome in a Congolese family with large intrafamilial variability

K. Devriendt, A. Lumaka, G. Mubungu, 2014, Clinical case reports.

Facial dysmorphism is influenced by ethnic background of the patient and of the evaluator

H. Peeters, T. de Ravel, K. Devriendt, 2016, Clinical genetics.

Increasing African genomic data generation and sharing to resolve rare and undiagnosed diseases in Africa: a call-to-action by the H3Africa rare diseases working group

K. Devriendt, A. Lumaka, G. Mubungu, 2022, Orphanet Journal of Rare Diseases.

Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity

J. Lupski, K. Devriendt, J. Vermeesch, 2019, Human mutation.

Usefulness of Automated Image Analysis for Recognition of the Fragile X Syndrome Gestalt in Congolese Subjects

K. Devriendt, A. Lumaka, G. Mubungu, 2021 .

DNA testing for sickle cell anemia in Africa: Implementation choices for the Democratic Republic of Congo

K. Devriendt, G. Matthijs, A. Lumaka, 2022, Journal of clinical laboratory analysis.

Dysmorphism and major anomalies are a main predictor of survival in newborns admitted to the neonatal intensive care unit in the Democratic Republic of Congo

K. Devriendt, A. Lumaka, G. Mubungu, 2020, American journal of medical genetics. Part A.

Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels.

Tam P. Sneddon, Andrew R. Grant, C. Betancur, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

PERCHING syndrome: Clinical presentation in the first African patient confirmed by clinical whole genome sequencing

Denise L. Perry, K. Devriendt, R. Taft, 2022, American journal of medical genetics. Part A.

Phenotype and growth in Sotos syndrome patient from DR Congo (Central Africa)

K. Devriendt, A. Lumaka, G. Mubungu, 2020, American journal of medical genetics. Part A.

Protective BCL11A and HBS1L‐MYB polymorphisms in a cohort of 102 Congolese patients suffering from sickle cell anemia

K. Devriendt, G. Matthijs, A. Lumaka, 2018, Journal of clinical laboratory analysis.

Association between sickle cell anemia and alpha thalassemia reveals a high prevalence of the α3.7 triplication in congolese patients than in worldwide series

K. Devriendt, G. Matthijs, A. Lumaka, 2018, Journal of clinical laboratory analysis.

Screening of germline mutations in young Rwandan patients with breast cancers

V. Bours, A. Lumaka, L. Mutesa, 2020, Molecular genetics & genomic medicine.

Fragile X checklists: A meta‐analysis and development of a simplified universal clinical checklist

A. Lumaka, R. Hagerman, L. Mutesa, 2018, Molecular genetics & genomic medicine.

Value of DNA testing in the diagnosis of sickle‐cell anemia in childhood in an environment with a high prevalence of other causes of anemia

K. Devriendt, G. Matthijs, A. Lumaka, 2022, Journal of clinical laboratory analysis.

Variability in expression of a familial 2.79 Mb microdeletion in chromosome14q22.1–22.2

K. Devriendt, J. Vermeesch, E. Ortibus, 2012, American journal of medical genetics. Part A.

Congenital lateral abdominal wall defect in two Congolese children.

K. Devriendt, A. Lumaka, G. Mubungu, 2019, Clinical dysmorphology.

X-linked adrenal hypoplasia congenita: a novel DAX1 missense mutation and challenges for clinical diagnosis in Africa

K. Devriendt, A. Lumaka, G. Mubungu, 2012, European Journal of Pediatrics.

GREB1L variants in familial and sporadic hereditary urogenital adysplasia and Mayer‐Rokitansky‐Kuster‐Hauser syndrome

V. Bours, L. Pasquier, A. Lehman, 2020 .

A novel heterozygous mutation of three consecutive nucleotides causing Apert syndrome in a Congolese family.

K. Devriendt, A. Lumaka, A. Corveleyn, 2014, European journal of medical genetics.

Meningocele in a Congolese Female with Beckwith-Wiedemann Phenotype

K. Devriendt, A. Lumaka, P. Lukusa Tshilobo, 2014, Case reports in genetics.

Preaxial Polydactyly of the Foot: Variable Expression of Trisomy 13 in a Case from Central Africa

K. Devriendt, A. Lumaka, P. Lukusa Tshilobo, 2014, Case reports in genetics.

Rapid Whole Genome Sequencing Diagnoses and Guides Treatment in Critically Ill Children in Belgium in Less than 40 Hours

V. Bours, A. Lumaka, F. Debray, 2023, International journal of molecular sciences.

Objective evaluation of facial features in Congolese newborns by facial measurements. The need for population‐specific measurements

K. Devriendt, A. Lumaka, G. Mubungu, 2022, American journal of medical genetics. Part A.

Morphological characterization of newborns in Kinshasa, DR Congo: Common variants, minor, and major anomalies

K. Devriendt, A. Lumaka, G. Mubungu, 2020, American journal of medical genetics. Part A.

Wolf-Hirschhorn Syndrome: Clinical and Genetic Data from a First Case Diagnosed in Central Africa

K. Devriendt, H. Reychler, A. Lumaka, 2017, Journal of Pediatric Genetics.

Exploring association between MBL2 gene polymorphisms and the occurrence of clinical blackwater fever through a case–control study in Congolese children

A. Lumaka, Prosper Lukusa, J. Verhaegen, 2020, Malaria Journal.

Williams–Beuren syndrome: pitfalls for diagnosis in limited resources setting

K. Devriendt, A. Lumaka, G. Mubungu, 2016, Clinical case reports.

Undiagnosed diseases: Needs and opportunities in 20 countries participating in the Undiagnosed Diseases Network International

V. Scaria, D. Taruscio, V. Dissanayake, 2023, Frontiers in Public Health.

Clinical and biological profile of Sickle Cell Anemia children in a rural area in Central Africa

K. Devriendt, G. Matthijs, A. Lumaka, 2023, Hematology.

PMS2 Pathogenic Variant in Lynch Syndrome-Associated Colorectal Cancer with Polyps

A. Lumaka, H. Poaty, D. Gassaye, 2022, Global Medical Genetics.

Clinical presentation and evolution of Xia‐Gibbs syndrome due to p.Gly375ArgfsTer3 variant in a patient from DR Congo (Central Africa)

J. Lupski, K. Devriendt, V. Bours, 2020, American Journal of Medical Genetics. Part A.

Novel Loss of Function Variant in BCKDK Causes a Treatable Developmental and Epileptic Encephalopathy

V. Bours, A. Lumaka, F. Debray, 2022, International journal of molecular sciences.

Usefulness of fragile X checklist and CGG distribution in specialized institutions in Kinshasa, DR Congo

H. Peeters, K. Devriendt, A. Lumaka, 2018, Journal of Community Genetics.

Fragile X syndrome with mosaic size mutation in a Bantu patient from Central Africa

A. Lumaka, O. Mukuku, O. Luboya, 2018, Clinical dysmorphology.

Clinical and laboratory characterization of adult sickle cell anemia patients in Kinshasa

K. Devriendt, G. Matthijs, A. Lumaka, 2022, PloS one.

Factors associated with acute kidney injury (AKI) and mortality in COVID-19 patients in a Sub-Saharan African intensive care unit: a single-center prospective study.

A. Lumaka, E. Sumaili, J. Bukabau, 2023, Renal failure.

A novel heterozygous mutation of three consecutive nucleotides causing Apert syndrome in a Congolese family.

K. Devriendt, A. Lumaka, A. Corveleyn, 2014, European journal of medical genetics.

Fragile X syndrome in Democratic Republic of Congo: dysmorphic, cognitive and behavioral findings in 14 subjects from three families.

A. Lumaka, R. Hagerman, Toni Kasole Lubala, 2023, Clinical dysmorphology.