L. Musante

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De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome

J. Lupski, R. Gibbs, T. Wienker, 2013, Genome Medicine.

Spectrum of mutations in PTPN11 and genotype–phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome

H. Ropers, D. Wieczorek, V. Kalscheuer, 2003, European Journal of Human Genetics.

Neonatal developmental and epileptic encephalopathy due to autosomal recessive variants in SLC13A5 gene

B. Castellotti, R. Møller, C. Gellera, 2020, Epilepsia.

Just Expect It: Compound Heterozygous Variants of POMT1 in a Consanguineous Family-The Role of Next Generation Sequencing in Neuromuscular Disorders.

T. Wienker, H. Ropers, A. Huebner, 2020, Neuropediatrics.

The Role of a Novel TRMT1 Gene Mutation and Rare GRM1 Gene Defect in Intellectual Disability in Two Azeri Families

T. Wienker, H. Ropers, K. Kahrizi, 2015, PloS one.

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

Wei Chen, Reinhard Ullmann, Dagmar Wieczorek, 2011, Nature.

Previously reported new type of autosomal recessive primary microcephaly is caused by compound heterozygous ASPM gene mutations

T. Wienker, H. Ropers, A. Kaindl, 2014, Cell cycle.

Spectrum of mutations in PTPN11 and genotype–phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome

H. Ropers, D. Wieczorek, S. Tinschert, 2003, European Journal of Human Genetics.

Redefining the MED13L syndrome

Steven P. Angus, T. Wienker, A. Chess, 2015, European Journal of Human Genetics.

Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome

J. Allanson, M. Tartaglia, B. Kerr, 2009, European Journal of Human Genetics.

Characterization of the human gene coding for the swelling-dependent chloride channel ICln at position 11q13.5-14.1 (CLNS1A) and further characterization of the chromosome 6 (CLNS1B) localization.

G. Utermann, M. Gschwentner, J. Fürst, 1998, Gene.

Homozygous SLC6A17 mutations cause autosomal-recessive intellectual disability with progressive tremor, speech impairment, and behavioral problems.

A. V. Vulto-van Silfhout, L. Vissers, T. Wienker, 2015, American journal of human genetics.

Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1

J. Gécz, Wei Chen, R. Reinhardt, 2011, European Journal of Human Genetics.

An electrogenic amino acid transporter in the apical membrane of cultured human bronchial epithelial cells.

G. Rossi, L. Musante, L. Varesio, 1998, American journal of physiology. Lung cellular and molecular physiology.

An electrogenic amino acid transporter in the apical membrane of cultured human bronchial epithelial cells.

G. Rossi, L. Musante, L. Varesio, 1998, The American journal of physiology.

Rede fi ning the MED 13 L syndrome

Steven P. Angus, T. Wienker, A. Chess, 2015 .

Missense variants in AIMP1 gene are implicated in autosomal recessive intellectual disability without neurodegeneration

L. Vissers, R. Pfundt, T. Wienker, 2015, European Journal of Human Genetics.

TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition

P. Gasparini, G. Girotto, M. La Bianca, 2022, American journal of medical genetics. Part A.

Characterization of a murine gene homologous to the bovine CaCC chloride channel.

M. Seri, L. Musante, L. Romio, 1999, Gene.

cDNA cloning and characterization of the human THRAP2 gene which maps to chromosome 12q24, and its mouse ortholog Thrap2.

H. Ropers, V. Kalscheuer, L. Musante, 2004, Gene.

((RPH6HTXHQFLQJDQG/LQNDJH$QDO\VLV,GHQWLøHG1RYHO Candidate Genes in Recessive Intellectual Disability Associated with Ataxia

T. Wienker, H. Najmabadi, Hao Hu, 2015 .

Challenging Occam’s Razor: Dual Molecular Diagnoses Explain Entangled Clinical Pictures

A. Morgan, G. Girotto, L. Musante, 2022, Genes.

Biallelic missense variants in ZBTB11 can cause intellectual disability in humans

J. Vincent, T. Wienker, H. Ropers, 2018, Human molecular genetics.

Autocrine Regulation of Volume-sensitive Anion Channels in Airway Epithelial Cells by Adenosine*

M. Ponzoni, P. Montaldo, L. Musante, 1999, The Journal of Biological Chemistry.

NDST1 missense mutations in autosomal recessive intellectual disability

T. Wienker, A. Ekici, M. Reuter, 2014, American journal of medical genetics. Part A.

Genetics of recessive cognitive disorders.

H. Ropers, L. Musante, 2014, Trends in genetics : TIG.

Homozygous YME1L1 mutation causes mitochondriopathy with optic atrophy and mitochondrial network fragmentation

T. Wienker, H. Ropers, T. Wai, 2016, eLife.

Haploinsufficiency as a Foreground Pathomechanism of Poirer-Bienvenu Syndrome and Novel Insights Underlying the Phenotypic Continuum of CSNK2B-Associated Disorders

A. Morgan, A. Pesaresi, G. Girotto, 2023, Genes.

The Genetic Diagnosis of Ultrarare DEEs: An Ongoing Challenge

P. Gasparini, M. La Bianca, M. Carrozzi, 2022, Genes.

Mutations of the aminoacyl‐tRNA‐synthetases SARS and WARS2 are implicated in the etiology of autosomal recessive intellectual disability

T. Wienker, H. Stehr, H. Ropers, 2017, Human mutation.

Integrated Sequence Analysis Pipeline Provides One‐Stop Solution for Identifying Disease‐Causing Mutations

T. Wienker, H. Ropers, V. Kalscheuer, 2014, Human mutation.

A novel ALDH5A1 mutation is associated with succinic semialdehyde dehydrogenase deficiency and severe intellectual disability in an Iranian family

H. Stehr, H. Ropers, A. Tzschach, 2013, American journal of medical genetics. Part A.

Homozygous ARHGEF2 mutation causes intellectual disability and midbrain-hindbrain malformation

T. Wienker, H. Ropers, C. Birchmeier, 2017, PLoS genetics.

Germline KRAS mutations cause Noonan syndrome

Kam Y. J. Zhang, Erik Sistermans, Kam Y J Zhang, 2006, Nature Genetics.

De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome

J. Lupski, R. Gibbs, T. Wienker, 2013, Genome Medicine.

Disruption of the TCF4 gene in a girl with mental retardation but without the classical Pitt–Hopkins syndrome

H. Ropers, C. V. van Ravenswaaij-Arts, D. Smeets, 2008, American journal of medical genetics. Part A.

Genetics of intellectual disability in consanguineous families

T. Wienker, Wei Chen, R. Herwig, 2019, Molecular Psychiatry.

Exome Sequencing and Linkage Analysis Identified Novel Candidate Genes in Recessive Intellectual Disability Associated with Ataxia.

T. Wienker, H. Ropers, K. Kahrizi, 2015, Archives of Iranian medicine.

A balanced chromosomal translocation disrupting ARHGEF9 is associated with epilepsy, anxiety, aggression, and mental retardation

Reinhard Ullmann, Cheng Fang, Kirsten Harvey, 2009, Human mutation.

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.

Meghan C Towne, Carol J. Saunders, B. V. van Bon, 2021, American journal of human genetics.

A defect in the CLIP1 gene (CLIP-170) can cause autosomal recessive intellectual disability

T. Wienker, N. Galjart, H. Ropers, 2014, European Journal of Human Genetics.

Expanding Phenotype of Poirier–Bienvenu Syndrome: New Evidence from an Italian Multicentrical Cohort of Patients

P. Striano, V. Capra, T. Foiadelli, 2022, Genes.

The X-chromosome-linked intellectual disability protein PQBP1 is a component of neuronal RNA granules and regulates the appearance of stress granules.

E. Wanker, V. Kalscheuer, E. Müller, 2011, Human molecular genetics.

Description of a peculiar alternating ictal electroclinical pattern in a young boy with a novel SPATA5 mutation.

M. Carrozzi, L. Musante, A. Russo, 2020, Epileptic disorders : international epilepsy journal with videotape.

Common pathological mutations in PQBP1 induce nonsense‐mediated mRNA decay and enhance exclusion of the mutant exon

C. Romano, H. Ropers, F. Martínez, 2010, Human mutation.

De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females

J. Rosenfeld, M. Shaw, E. Haan, 2016, Molecular Psychiatry.

Klüver–Bucy syndrome associated with a recessive variant in HGSNAT in two siblings with Mucopolysaccharidosis type IIIC (Sanfilippo C)

T. Wienker, H. Ropers, M. Schuelke, 2017, European Journal of Human Genetics.

Klüver–Bucy syndrome associated with a recessive variant in HGSNAT in two siblings with Mucopolysaccharidosis type IIIC (Sanfilippo C)

T. Wienker, H. Ropers, E. Knierim, 2016, European Journal of Human Genetics.

Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation

Steffen Lenzner, Constance Scharff, Kirsten Hoffmann, 2003, Nature Genetics.

In utero gene therapy rescues microcephaly caused by Pqbp1-hypofunction in neural stem progenitor cells

C. Romano, S. Miyano, E. Wanker, 2014, Molecular Psychiatry.

Mutations in PTRH2 cause novel infantile-onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, and muscle weakness

T. Wienker, M. Jijiwa, H. Ropers, 2014, Annals of clinical and translational neurology.

SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability

J. Rosenfeld, E. Roeder, J. Lupski, 2023, American journal of human genetics.

Mutations in the histamine N-methyltransferase gene, HNMT, are associated with nonsyndromic autosomal recessive intellectual disability.

J. Vincent, H. Stehr, H. Ropers, 2015, Human molecular genetics.

A defect in the CLIP1 gene (CLIP-170) can cause autosomal recessive intellectual disability

T. Wienker, N. Galjart, H. Ropers, 2015, European Journal of Human Genetics.

New evidence for the role of calpain 10 in autosomal recessive intellectual disability: identification of two novel nonsense variants by exome sequencing in Iranian families.

T. Wienker, H. Ropers, K. Kahrizi, 2015, Archives of Iranian medicine.