Alexander P A Stegmann
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Explore the profile of Alexander P A Stegmann including associated specialties, affiliations and a list of published articles.
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68
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1749
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Recent Articles
11.
Loong L, Tardivo A, Knaus A, Hashim M, Pagnamenta A, Alt K, et al.
Genet Med
. 2022 Nov;
25(1):37-48.
PMID: 36322149
Purpose: Biallelic PIGN variants have been described in Fryns syndrome, multiple congenital anomalies-hypotonia-seizure syndrome (MCAHS), and neurologic phenotypes. The full spectrum of clinical manifestations in relation to the genotypes is...
12.
Kayumi S, Perez-Jurado L, Palomares M, Rangu S, Sheppard S, Chung W, et al.
Genet Med
. 2022 Sep;
24(11):2351-2366.
PMID: 36083290
Purpose: Germline loss-of-function variants in CTNNB1 cause neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV; OMIM 615075) and are the most frequent, recurrent monogenic cause of cerebral palsy (CP)....
13.
de Boer E, Ockeloen C, Kampen R, Hampstead J, Dingemans A, Rots D, et al.
Genet Med
. 2022 Jul;
24(10):2051-2064.
PMID: 35833929
Purpose: Although haploinsufficiency of ANKRD11 is among the most common genetic causes of neurodevelopmental disorders, the role of rare ANKRD11 missense variation remains unclear. We characterized clinical, molecular, and functional...
14.
Wei A, Wakenight P, Zwingman T, Bard A, Sahai N, Willemsen M, et al.
J Neurophysiol
. 2022 May;
128(1):40-61.
PMID: 35583973
We identified six novel de novo human variants in children with motor/language delay, intellectual disability (ID), and/or epilepsy by whole exome sequencing. These variants, comprising two nonsense and four missense...
15.
Rahimi M, Urban N, Wegler M, Sticht H, Schaefer M, Popp B, et al.
Am J Hum Genet
. 2022 Mar;
109(5):944-952.
PMID: 35358416
Calcium (Ca) is a universal second messenger involved in synaptogenesis and cell survival; consequently, its regulation is important for neurons. ATPase plasma membrane Ca transporting 1 (ATP2B1) belongs to the...
16.
Bayat A, de Valles-Ibanez G, Pendziwiat M, Knaus A, Alt K, Biamino E, et al.
Epilepsia
. 2022 Feb;
63(4):974-991.
PMID: 35179230
Objective: Epilepsy is common in patients with PIGN diseases due to biallelic variants; however, limited epilepsy phenotyping data have been reported. We describe the epileptology of PIGN encephalopathy. Methods: We...
17.
Aukema S, de Geus C, Robben S, van Kaam K, Staal H, Witlox A, et al.
Am J Med Genet A
. 2021 Dec;
188(3):1000-1004.
PMID: 34894067
No abstract available.
18.
Mannucci I, Dang N, Huber H, Murry J, Abramson J, Althoff T, et al.
Genome Med
. 2021 May;
13(1):90.
PMID: 34020708
Background: We aimed to define the clinical and variant spectrum and to provide novel molecular insights into the DHX30-associated neurodevelopmental disorder. Methods: Clinical and genetic data from affected individuals were...
19.
Sallevelt S, Stegmann A, de Koning B, Velter C, Steyls A, van Esch M, et al.
Genet Med
. 2021 Mar;
23(6):1125-1136.
PMID: 33742171
Purpose: Consanguineous couples are at increased risk of being heterozygous for the same autosomal recessive (AR) disorder(s), with a 25% risk of affected offspring as a consequence. Until recently, comprehensive...
20.
Radio F, Pang K, Ciolfi A, Levy M, Hernandez-Garcia A, Pedace L, et al.
Am J Hum Genet
. 2021 Feb;
108(3):502-516.
PMID: 33596411
Deletion 1p36 (del1p36) syndrome is the most common human disorder resulting from a terminal autosomal deletion. This condition is molecularly and clinically heterogeneous. Deletions involving two non-overlapping regions, known as...