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Scientific Publications

Curious About the Latest Scientific Discoveries?

A Novel PORCN Mutation in a Severe Case of Focal Dermal Hypoplasia

In this case report a novel PORCN heterozygous nonsense mutation was detected in exon 2 on the patient genetically diagnosing focal dermal hypoplasia. Read more!

Focal dermal hypoplasia is an unusual genetic disease that affects ectodermal and mesodermal derivatives. This is the case of an eight year old female from Colombia with multiple congenital malformations.

DermatologyNeurology
Author(s): Rolfs, Prof. Arndt, MD, Eichler, Sabrina, PhD, Ramirez-Botero, Andres Felipe, MD, Pachajoa, Harry, MD PhD
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A Recessive Form of Extreme Macrocephaly

PTEN hamartoma tumour syndrome (PHTS) is caused by heterozygous variants in PTEN and is characterised by tumour predisposition, macrocephaly, and cognition impairment. Bi-allelic loss of PTEN activity has not been reported so far.

PTEN hamartoma tumour syndrome (PHTS) is caused by heterozygous variants in PTEN and is characterised by tumour predisposition, macrocephaly, and cognition impairment. Bi-allelic loss of PTEN activity has not been reported so far and animal models suggest that bi-allelic loss of PTEN activity is embryonically lethal.

Dysmorphology
Author(s): Schwerd, Tobias
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Mendelian Disease Gene Identification and Diagnostics Using Targeted Next Generation Sequencing

Genomics has the potential to transform the quality of life worldwide, allowing the widespread implementation of more tailored medical care. Read more!

During the last few months we have observed for the first time since the introduction of the first massive parallel sequencers in 2007, that the cost of sequencing a human genome has not changed significantly.

NGSWES
Author(s): Rolfs, Prof. Arndt, MD, Jamra, Rami Abou, MD, Trujillano, Daniel, PhD
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Recurrent Null Mutation in SPG20

Troyer syndrome is an autosomal recessive form of complex hereditary spastic paraplegia. To date, the disorder has only been described in the Amish and in kindred from Oman

Troyer syndrome is an autosomal recessive form of complex hereditary spastic paraplegia. To date, the disorder has only been described in the Amish and in kindred from Oman. In Amish, all affected individuals have a homozygous one nucleotide deletion; c.1110delA. In the Omani kindred, all affected have a homozygous two nucleotides deletion; c.364_365delTA (p.Met122ValfsTer2).

Neurology
Author(s): Tawamie, Hasan
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Proof-of-Principle Rapid Noninvasive Prenatal Diagnosis of Autosomal Recessive Founder Mutations

Ten parental alleles in eight unrelated fetuses were diagnosed successfully based on the noninvasive method developed in this study. Read more!

Proof-of-principle rapid noninvasive prenatal diagnosis of autosomal recessive founder mutations. Ten parental alleles in eight unrelated fetuses were diagnosed successfully based on the noninvasive method developed in this study.

Metabolic DisordersReproductive Health
Author(s): Rolfs, Prof. Arndt, MD, Zeevi, David, Altarescu, Prof. Gheona, MD, Zahdeh, Fouad, PhD, Weinberg-Shukron, Ariella, Dinur, Tama, PhD, Chicco, Gaya, Herskovitz, Yair, Renbaum, Paul, Elstein, Deborah, Levy-Lahad, Ephrat, MD, Zimran, Ari, MD
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Molecular, Biochemical, and Structural Analysis of a Novel Mutation in Patients with Methylmalonyl-CoA Mutase Deficiency

We report a novel mutation, including its clinical and biochemical features and genetic defects, in the MUT gene of three patients affected with isolated MMA. Read more!

Methylmalonic aciduria (MMA) is an inborn error of metabolism resulting from genetic defects in methylmalonyl-CoA mutase (MCM). We found one homozygous nucleotide change in intron 12 of the MUT gene (c.2125-3 C > G).

BiomarkerMetabolic Disorders
Author(s): Rolfs, Prof. Arndt, MD, Keyfi, F., Sankian, Mojtaba, PhD, Moghaddassian, Morteza, Varasteh, Prof. Abdol Reza, MD
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Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease

In this publication we conclude that a mild GLA variant is typically characterized by high residual enzyme activity and normal biomarker levels. Read more!

Fabry disease (FD) is a rare metabolic disorder of glycosphingolipid storage caused by mutations in the GLA gene encoding lysosomal hydrolase α-galactosidase A (α-gal A). We conclude that a mild GLA variant is typically characterized by high residual enzyme activity and normal biomarker levels. We found evidence that these variants can still be classified as a distinctive, but milder, sub-type of FD.

BiomarkerNeurology
Author(s): Rolfs, Prof. Arndt, MD, Giese, Anne Katrin, MD, Eichler, Sabrina, PhD, Lukas, Jan, PhD, Scalia, Simone, Pockrandt, Anne-Marie, Dehn, Nicole, Cozma, Dr. rer. nat. Claudia, MD
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TALPID3 Controls Centrosome

Joubert syndrome (JBTS) is a severe recessive neurodevelopmental ciliopathy which can affect several organ systems. Mutations in known JBTS genes account for approximately half of the cases.

Joubert syndrome (JBTS) is a severe recessive neurodevelopmental ciliopathy which can affect several organ systems. Mutations in known JBTS genes account for approximately half of the cases. By homozygosity mapping and whole-exome sequencing, we identified a novel locus, JBTS23, with a homozygous splice site mutation in KIAA0586 (alias TALPID3), a known lethal ciliopathy locus in model organisms.

Metabolic DisordersNeurologyWES
Author(s): Stephen, LA
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Diagnosis of Morquio Syndrome in Dried Blood Spots Based on a New MRM-MS Assay

We propose a completely new assay for the stable and reproducible detection of GALNS deficiency in dry blood spots. Read more in this publication!

Mucopolysaccharidosis IVA (MPS IVA; Morquio A disease) is an autosomal recessive disease caused and characterized by a decreased activity of N-acetylgalactosamine-6- sulfate sulfatase (GALNS), resulting in accumulation of keratan sulfate and chondroitin-6- sulfate in tissues and secondary organ damage.

BiomarkerMetabolic Disorders
Author(s): Rolfs, Prof. Arndt, MD, Giese, Anne Katrin, MD, Eichler, Sabrina, PhD, Wittmann, Gyula, PhD, Cozma, Dr. rer. nat. Claudia, MD, Flores Bonet, Alba, Kramp, Guido Johannes, PhD
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A Novel, Highly Sensitive and Specific Biomarker for Niemann-Pick Type C1 Disease

In this publication a novel, highly specific and sensitive biomarker for Niemann-Pick Type C disease type 1, lyso-sphingomyelin-509 was described. Read more!

Lysosomal storage disorders (LSDs), are a heterogeneous group of rare disorders caused by defects in genes encoding for proteins involved in the lysosomal degradation of macromolecules.

BiomarkerMetabolic Disorders
Author(s): Rolfs, Prof. Arndt, MD, Giese, Anne Katrin, MD, Eichler, Sabrina, PhD, Lukas, Jan, PhD, Kramp, Guido Johannes, PhD, Mascher, Prof. Hermann, Grittner, Ulrike, PhD, Te Vruchte, Danielle, Al Eisa, Nada, PhD, Cortina-Borja, Mario, PhD, Porter, Forbes D., PhD, Platt, Frances M., PhD
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A Recent Bottleneck of Y Chromosome Diversity

It is commonly thought that human genetic diversity in non-African populations was shaped primarily by an out-of-Africa dispersal 50-100 thousand yr ago (kya). Here, we present a study of 456 geographically diverse high-coverage Y chromosome sequences, including 299 newly reported samples.

It is commonly thought that human genetic diversity in non-African populations was shaped primarily by an out-of-Africa dispersal 50-100 thousand yr ago (kya). Here, we present a study of 456 geographically diverse high-coverage Y chromosome sequences, including 299 newly reported samples.

Author(s): Karmin, Monika
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Validation of a Semiconductor Next-Generation Sequencing Assay for the Clinical Genetic Screening of CFTR

We have explored a more efficient genetic screening strategy based on next-generation sequencing (NGS) of the CFTR gene. Read more!

Genetic testing for cystic fibrosis and CFTR-related disorders mostly relies on laborious molecular tools that use Sanger sequencing to scan for mutations in the CFTR gene. We have explored a more efficient genetic screening strategy based on next-generation sequencing of the CFTR gene.

Metabolic DisordersNGSReproductive Health
Author(s): Rolfs, Prof. Arndt, MD, Trujillano, Daniel, PhD, Kandaswamy, Krishna Kumar, PhD, Eichler, Sabrina, PhD, Creed Geraghty, Jenny, Weiss, Maximilian E. R., Köster, Julia, Papachristos, Efstathios B., Werber, Martin, Marais, Anett, Baysal, Erol, MD, Jaber, Iqbal Yousuf, Mehaney, Dina, MD, Farra, Chantal, MD
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Next-Generation Sequencing of the BRCA1 and BRCA2 Genes for the Diagnostics of Breast and/or Ovarian Cancer

We explored a more efficient genetic screening strategy based on NGS of the BRCA1 and BRCA2 genes in 210 hereditary breast and/or ovarian cancer patients. Read more!

We explored a more efficient genetic screening strategy based on next-generation sequencing of the BRCA1 and BRCA2 genes in 210 hereditary breast and/or ovarian cancer patients.

BRCA 1/2Hereditary CancerNGSOncology
Author(s): Rolfs, Prof. Arndt, MD, Trujillano, Daniel, PhD, Nahavandi, Nahid, Weiss, Maximilian E. R., Köster, Julia, Papachristos, Efstathios B., Schneider, Juliane, Saviouk, Viatcheslav, Zakharkina, Tetyana, PhD, Kovacevic, Lejla
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A Novel Mutation Causing 17-β-Hydroxysteroid

This is the first case report in Oman and the Gulf region of a 17-β-hydroxysteroid dehydrogenase type 3 (17-β-HSD3) deficiency with a novel mutation in the HSD17B3 gene that has not been previously described in the medical literature.

This is the first case report in Oman and the Gulf region of a 17-β-hydroxysteroid dehydrogenase type 3 (17-β-HSD3) deficiency with a novel mutation in the HSD17B3 gene that has not been previously described in the medical literature.

Reproductive Health
Author(s): Al-Sinani, Aisha
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Pierson Syndrome: A Case Report with a Neonatal Cardiac Association Based on a Novel Mutation in the LAMB2 Gene

In this publication the clinical association of Pierson syndrome with heart manifestation was reported for the first time. Read more!

Congenital nephrotic syndrome (CNS) combined with eye abnormalities including microcoria (small pupils that don’t respond to light) and abnormal lens shape can suggest a clinical diagnosis of Pierson syndrome (which mainly affects the kidneys and eyes). The clinical association of Pierson syndrome with heart manifestation is a novel finding, reported here for the 1st time.

CardiovascularEndocrinologyNephrologyOphthalmology
Author(s): Rolfs, Prof. Arndt, MD, Ali, Arif, Parappil, Hussain, MD, Masud, Faraz, Pai, Anant, Nahavandi, Nahid, Imam, Abubakr, Mansour, Ashraf, PhD, Shaddad, Afaf
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