I. Rost

发表

Mapping translocation breakpoints by next-generation sequencing.

Martin Vingron, Marcel H. Schulz, Fikret Erdogan, 2008, Genome research.

Phenotypic spectrum of GABRA1

P. Striano, H. Lerche, F. Rosenow, 2016, Neurology.

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

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

Invasive Pränataldiagnostik / Invasive methods in prenatal diagnostics

H. Klein, U. Heinrich, I. Rost, 2007 .

Combined deletion 18q22.2 and duplication/triplication 18q22.1 causes microcephaly, mental retardation and leukencephalopathy.

D. Horn, I. Rost, A. Kaindl, 2013, Gene.

A boy with mild mental retardation, mild sensorineural hearing loss and mild facial dysmorphism caused by a 19p13.2 deletion: a case report and review of the literature.

M. Ptok, I. Rost, M. Jungheim, 2014, International journal of pediatric otorhinolaryngology.

Current status of non-invasive prenatal testing (NIPT): genetic counseling, dominant methods and overall performance

H. Klein, I. Rost, T. Harasim, 2016 .

Genetische Diagnostik bei mentaler Retardierung Genetic testing for diseases associated with mental retardation

H. Klein, I. Rost, 2005 .

Endochondral gigantism: A newly recognized skeletal dysplasia with pre‐ and postnatal overgrowth and endocrine abnormalities

I. Rost, W. Kiess, M. Grasser, 2007, American journal of medical genetics. Part A.

Expanding the mutation spectrum for Fraser syndrome: identification of a novel heterozygous deletion in FRAS1.

H. Klein, L. Weber, U. Heinrich, 2013, Gene.

Array comparative genomic hybridisation in clinical diagnostics: principles and applications / Array-CGH in der klinischen Diagnostik: Prinzipien und Anwendungen

U. Heinrich, I. Rost, T. Gordon, 2009 .

A familial unbalanced subtelomeric translocation resulting in monosomy 6q27→qter

C. Fauth, M. Speicher, I. Rost, 2003, Journal of medical genetics.

Molecular karyotyping in routine diagnostics – a view back and forth1)

U. Heinrich, I. Rost, M. Gabert, 2013 .

Molekulare Karyotypisierung in der Routinediagnostik – Rückblick und Ausblick/Molecular karyotyping in routine diagnostics – a view back and forth

U. Heinrich, I. Rost, M. Gabert, 2012 .

Tetrasomy 21pter→q21.2 in a male infant without typical Down’s syndrome dysmorphic features but moderate mental retardation

M R Speicher, N. Carter, H. Fiegler, 2004, Journal of Medical Genetics.

P8 First experiences with PGD after trophectoderm biopsy at Kinderwunsch Centrum Munich (KCM), Germany

I. Rost, U. Koehler, T. Harasim, 2012 .

Array CGH in the routine diagnostic work-up of mental retardation1

U. Heinrich, I. Rost, H. von Voss, 2008 .

Array-CGH in der Routinediagnostik bei geistiger Entwicklungsstörung / Array CGH in the routine diagnostic work-up of mental retardation

U. Heinrich, I. Rost, H. von Voss, 2008 .

Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: Congenital dislocations and vertebral changes as principal diagnostic features

D. Sillence, S. Robertson, A. Mégarbané, 2010, American journal of medical genetics. Part A.

Impact on Clinical Decision Making of Next-generation Sequencing (NGS) in Pediatric Epilepsy in a Tertiary Epilepsy Referral Center

I. Borggraefe, I. Rost, K. Hoertnagel, 2019, Neuropediatrics.

PHIP-associated Chung-Jansen syndrome: Report of 23 new individuals

C. Depienne, A. Afenjar, D. Wieczorek, 2023, Frontiers in Cell and Developmental Biology.

A new strategy for the detection of subtelomeric rearrangements

R. Eils, K. Saracoglu, L. Kearney, 2001, Human Genetics.

A novel chromosomal aberration in a child with suspected Juberg–Hayward syndrome

I. Rost, H. Schmidt, M. Berger, 2011, Clinical dysmorphology.

Novel variants in TECRL cause recessive inherited CPVT type 3 with severe and variable clinical symptoms

C. Ott, I. Rost, T. Paul, 2020, Journal of cardiovascular electrophysiology.

Familial mental retardation syndrome ATR-16 due to an inherited cryptic subtelomeric translocation, t(3;16)(q29;p13.3).

T. Meitinger, S. Uhrig, M. Speicher, 2000, American journal of human genetics.

Regional localization of two MRX genes to Xq28 (MRX28) and to Xp11.4-Xp22.12 (MRX33).

A. Meindl, I. Rost, O. Rittinger, 1996, American journal of medical genetics.

A novel interstitial deletion of 10q24.2q24.32 in a patient with renal coloboma syndrome.

H. Klein, U. Heinrich, I. Rost, 2012, European journal of medical genetics.

Next Generation Sequencing in Pediatric Epilepsy Using Customized Panels: Size Matters

H. Klein, I. Borggraefe, I. Rost, 2020, Neuropediatrics.

Biallelic COL3A1 mutations result in a clinical spectrum of specific structural brain anomalies and connective tissue abnormalities

Ulrich Seidel, Uwe Kornak, Diana Mitter, 2017, American journal of medical genetics. Part A.

MRX42: two linkage intervals, one in the pericentromeric region and one in Xq26, and the impact for carrier risk estimation.

I. Rost, J. Murken, E. Holinski-Feder, 2002, American journal of medical genetics.

A familial unbalanced subtelomeric translocation resulting in monosomy 6q27→qter

C. Fauth, M. Speicher, I. Rost, 2003, Journal of medical genetics.