A. Riess

发表

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

D. Horn, T. Wieland, E. Schröck, 2012, The Lancet.

Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation

Ute Moog, Volker Endris, Christian R. Marshall, 2010, Nature Genetics.

ADAMTSL4‐associated isolated ectopia lentis: Further patients, novel mutations and a detailed phenotype description

T. Neuhann, E. Blair, A. Riess, 2015, American journal of medical genetics. Part A.

Molecular karyotyping of patients with unexplained mental retardation by SNP arrays: A multicenter study

Luminita Moruz, Andreas Dufke, Olaf Riess, 2009, Human mutation.

Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy

R. Pfundt, Adam Claridge‐Chang, B. Venkatesh, 2020, Nature Communications.

Pre‐ and postnatal findings in a patient with a recombinant chromosome rec(8)(qter→q21.11::p23.3→qter) due to a paternal pericentric inversion inv(8)(p23.3q21.11) and review of the literature

K. Kagan, A. Dufke, U. Mau-Holzmann, 2020, American journal of medical genetics. Part A.

Structural brain anomalies in patients with FOXG1 syndrome and in Foxg1+/− mice

A. Leha, H. Omran, D. Mitter, 2019, Annals of clinical and translational neurology.

Epilepsy is not a mandatory feature of STXBP1 associated ataxia-tremor-retardation syndrome.

P. Bauer, A. Tzschach, A. Riess, 2016, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

PIK3R1 mutations in SHORT syndrome

P. Bauer, C. Schroeder, O. Riess, 2014, Clinical genetics.

X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity

Alison M. Male, P. Bauer, D. Wieczorek, 2013, Orphanet Journal of Rare Diseases.

Genome-wide UPD screening in patients with intellectual disability

A. Ekici, G. Rappold, C. Schroeder, 2014, European Journal of Human Genetics.

First report on concordant monozygotic twins with Silver-Russell syndrome and ICR1 hypomethylation.

T. Eggermann, G. Binder, A. Riess, 2016, European journal of medical genetics.

A single center experience of prenatal parent‐fetus trio exome sequencing for pregnancies with congenital anomalies

K. Kagan, M. Hoopmann, M. Sturm, 2022, Prenatal diagnosis.

Mosaic Trisomy 21/Monosomy 21 in a Living Female Infant

A. Dufke, A. Riess, H. Enders, 2009, Cytogenetic and Genome Research.

Mutations in SEC24D, encoding a component of the COPII machinery, cause a syndromic form of osteogenesis imperfecta.

S. Bohlander, K. Kagan, Filippo Beleggia, 2015, American journal of human genetics.

FOXG1 syndrome: genotype–phenotype association in 83 patients with FOXG1 variants

A. Fatemi, D. Mitter, N. Hauser, 2017, Genetics in Medicine.

FOXG 1 syndrome : genotype – phenotype association in 83 patients with FOXG 1 variants

A. Fatemi, D. Mitter, N. Hauser, 2017 .

Xq22.3–q23 deletion including ACSL4 in a patient with intellectual disability

A. Jauch, O. Riess, M. Bonin, 2013, American journal of medical genetics. Part A.

Interstitial 3p25.3–p26.1 deletion in a patient with intellectual disability

O. Riess, M. Bonin, A. Tzschach, 2012, American journal of medical genetics. Part A.

PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndrome.

Na Zhu, Peter M. Krawitz, Stefan Mundlos, 2013, American journal of human genetics.

Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy

H. Mefford, Y. Marie, S. Sisodiya, 2016, Journal of Medical Genetics.

Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation

D. Mitter, C. Evers, S. Nampoothiri, 2016, Genetics in Medicine.

Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP

J. Rosenfeld, A. V. Vulto-van Silfhout, B. D. de Vries, 2019, Biological Psychiatry.

Next-generation sequencing in X-linked intellectual disability

P. Bauer, C. Evers, C. Schroeder, 2015, European Journal of Human Genetics.

Pontocerebellar hypoplasia type 11: Does the genetic defect determine timing of cerebellar pathology?

S. Groeschel, I. Krägeloh-Mann, M. Sturm, 2020, European journal of medical genetics.

Inherited variants in CHD3 demonstrate variable expressivity in Snijders Blok-Campeau syndrome

L. Vissers, N. Brown, B. D. de Vries, 2021, medRxiv.

Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND).

H. Galehdari, T. Frebourg, R. Maroofian, 2020, European journal of medical genetics.

Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome.

L. Vissers, N. Brown, B. D. de Vries, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Genetic basis of neurodevelopmental disorders in 103 Jordanian families

P. Bauer, M. Sturm, O. Riess, 2020, Clinical genetics.

The Discovery of a LEMD2-Associated Nuclear Envelopathy with Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial Phenotyping.

Tzung-Chien Hsieh, P. Krawitz, C. Gilissen, 2019, American journal of human genetics.

In-depth characterisation of a cohort of individuals with missense and loss-of-function variants disrupting FOXP2

S. Fisher, F. Liégeois, A. Morgan, 2022, Journal of Medical Genetics.

FOXP2 variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum

P. Bauer, M. Reuter, A. Reis, 2016, Journal of Medical Genetics.

Novel mutations in BCOR in three patients with oculo-facio-cardio-dental syndrome, but none in Lenz microphthalmia syndrome

D. Horn, D. Wieczorek, S. Tinschert, 2005, European Journal of Human Genetics.

Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder

A. Pagnamenta, J. Lupski, T. Nägele, 2021, American journal of human genetics.

Miller (Genee-Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH.

C. Mercer, D. Wieczorek, Harris Morrison, 2012, Human molecular genetics.

Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions.

H. Hakonarson, C. Siao, E. Puffenberger, 2017, American journal of human genetics.

Novel Mutations Including Deletions of the Entire OFD1 Gene in 30 Families with Type 1 Orofaciodigital Syndrome: A Study of the Extensive Clinical Variability

D. Horn, K. Heimdal, D. Wieczorek, 2013, Human mutation.

Identification of a novel CRYBB2 missense mutation causing congenital autosomal dominant cataract

A. Riess, B. Wissinger, N. Weisschuh, 2012, Molecular vision.

Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2

J. Fish, David T. Miller, J. Graham, 2020, Clinical genetics.

Mirror-Image Asymmetry in Monozygotic Twins with Kabuki Syndrome

A. Dufke, O. Riess, A. Tzschach, 2012, Molecular Syndromology.

ABRAXAS1 orchestrates BRCA1 activities to counter genome destabilizing repair pathways—lessons from breast cancer patients

H. Pospiech, L. Wiesmüller, R. Winqvist, 2023, Cell death & disease.

Novel SLC9A6 mutations in two families with Christianson syndrome

R. Krüger, A. Dufke, O. Riess, 2013, Clinical genetics.

Expansion of the phenotypic and molecular spectrum of CWF19L1‐related disorder

R. Møller, A. Bayat, E. Gardella, 2022, 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.

Long‐term disease course of two patients with multiple sulfatase deficiency differs from metachromatic leukodystrophy in a broad cohort

S. Groeschel, I. Krägeloh-Mann, T. Haack, 2020, JIMD reports.

GPT2 mutations cause developmental encephalopathy with microcephaly and features of complicated hereditary spastic paraplegia

P. Bauer, L. Schöls, H. Hengel, 2018, Clinical genetics.

Macrocephaly, obesity, mental (intellectual) disability, and ocular abnormalities: Alternative definition and further delineation of MOMO syndrome

A. Rump, S. Tinschert, A. Riess, 2012, American journal of medical genetics. Part A.

PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndrome.

P. Robinson, D. Horn, S. Mundlos, 2013, American journal of human genetics.

Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study.

T. Kleefstra, F. Ramond, A. Riess, 2024, European journal of human genetics : EJHG.