M. Hempel

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.

Expanding the clinical spectrum of COL2A1 related disorders by a mass like phenotype

G. Rosenberger, C. Kubisch, M. Hempel, 2022, Scientific Reports.

First de novo ANK3 nonsense mutation in a boy with intellectual disability, speech impairment and autistic features.

T. Strom, D. Lessel, J. Denecke, 2017, European journal of medical genetics.

Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients

D. Mitter, D. Wieczorek, R. Abou Jamra, 2019, Genetics in Medicine.

BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells

T. Strom, M. Lek, B. Lenhard, 2018, Brain : a journal of neurology.

Anal atresia, coloboma, microphthalmia, and nasal skin tag in a female patient with 3.5 Mb deletion of 3q26 encompassing SOX2

T. Meitinger, M. Hempel, K. Oexle, 2013, American journal of medical genetics. Part A.

Recurrent hypoglycemia due to growth hormone deficiency in an infant with Turner syndrome

S. Burdach, M. Hempel, W. Bonfig, 2012, Journal of pediatric endocrinology & metabolism : JPEM.

Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion

D. Horn, S. Mundlos, Hitesh Shah, 2011, Journal of Medical Genetics.

Activating Mutations in PAK1, Encoding p21-Activated Kinase 1, Cause a Neurodevelopmental Disorder.

Kerstin Kutsche, Jonas Denecke, D. Lessel, 2018, American journal of human genetics.

De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment.

R. Pfundt, T. Strom, D. Wieczorek, 2015, American journal of human genetics.

De Novo Variants in GRIA4 Lead to Intellectual Disability with or without Seizures and Gait Abnormalities.

T. Strom, A. Fatemi, R. Abou Jamra, 2017, American journal of human genetics.

Cohen syndrome diagnosis using whole genome arrays

T. Meitinger, T. Strom, N. Klopp, 2010, Journal of Medical Genetics.

De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.

A. Hoischen, A. Need, D. Goldstein, 2017, American journal of human genetics.

Exome Sequencing in Children Undiagnosed Developmental Delay and Neurological Illness

T. Meitinger, T. Strom, F. Kortüm, 2019 .

16p13.11 microdeletion uncovers loss‐of‐function of a MYH11 missense variant in a patient with megacystis‐microcolon‐intestinal‐hypoperistalsis syndrome

D. Steinemann, B. Lorenz, G. Rosenberger, 2019, Clinical genetics.

Phenotypic and molecular insights into CASK-related disorders in males

R. Pfundt, D. Steinemann, B. Menten, 2015, Orphanet Journal of Rare Diseases.

Hirschsprung Disease – Clinical Relevance of RET Mutations

M. Hempel, K. Reinshagen, Deirdre Vincent, 2020, Zeitschrift für Geburtshilfe und Neonatologie.

Whole-Exome Sequencing in Critically Ill Neonates and Infants: Diagnostic Yield and Predictability of Monogenic Diagnosis

F. Kortüm, D. Lessel, J. Denecke, 2021, Neonatology.

Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder

Z. Tümer, K. Bhatia, H. Lerche, 2022, Clinical genetics.

Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome.

T. Strom, H. Williams, H. Brunner, 2017, American journal of human genetics.

Exome sequencing is a valuable approach in critically ill patients with suspected monogenic disease: Diagnosis of X-linked centronuclear myopathy in preterm twins.

T. Haack, J. Denecke, M. Hempel, 2017, Pediatrics and neonatology.

New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics

A. Verloes, S. Banka, T. Reimand, 2020, Genetics in Medicine.

The Clinical Picture of a Bilateral Perisylvian Syndrome as the Initial Symptom of Mega-Corpus-Callosum Syndrome due to a MAST1-Gene Mutation

J. Denecke, M. Hempel, J. Buhk, 2020, Neuropediatrics.

TBX3 and TBX5 duplication: a family with an atypical overlapping Holt-Oram/Ulnar-Mammary syndrome phenotype.

T. Strom, E. Thomas, M. Hempel, 2021, European journal of medical genetics.

Rare Syndromes Associated with Infertility

M. Hempel, T. Buchholz, 2009 .

Defining clinical subgroups and genotype–phenotype correlations in NBAS-associated disease across 110 patients

R. Russell, H. Prokisch, C. Klein, 2019, Genetics in Medicine.

Compound heterozygous GATA5 mutations in a girl with hydrops fetalis, congenital heart defects and genital anomalies

T. Strom, D. Lessel, M. Philipp, 2017, Human Genetics.

Fatal COVID-19 in a Child with Persistence of SARS-CoV-2 Despite Extensive Multidisciplinary Treatment: A Case Report

M. Hempel, R. Kobbe, S. Pfefferle, 2021, Children.

SON haploinsufficiency causes impaired pre-mRNA splicing of CAKUT genes and heterogeneous renal phenotypes.

L. Vissers, D. Wieczorek, D. Chitayat, 2019, Kidney international.

Molecular and clinical spectra of FBXL4 deficiency

W. Chan, H. Prokisch, F. Alkuraya, 2017, Human mutation.

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders

L. Lagae, P. Striano, T. Loddenkemper, 2017, Brain : a journal of neurology.

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN 2 A-related disorders

L. Lagae, P. Striano, T. Loddenkemper, 2017 .

de novo MEPCE nonsense variant associated with a neurodevelopmental disorder causes disintegration of 7SK snRNP and enhanced RNA polymerase II activation

K. Kutsche, M. Hempel, A. Neu, 2019, Scientific Reports.

Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature

S. Scherer, L. Vissers, R. Pfundt, 2021, American journal of human genetics.

Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males

U. Löbel, Philippe M. Campeau, D. Lessel, 2021, Human Genetics.

„Next generation sequencing“

H. Prokisch, T. Haack, M. Hempel, 2011, Monatsschrift Kinderheilkunde.

3.7 Mb tandem microduplication in chromosome 5p13.1-p13.2 associated with developmental delay, macrocephaly, obesity, and lymphedema. Further characterization of the dup(5p13) syndrome.

A. Jauch, T. Meitinger, T. Strom, 2011, European journal of medical genetics.

De novo variants in neurodevelopmental disorders—experiences from a tertiary care center

T. Meitinger, T. Strom, R. Jech, 2021, Clinical genetics.

The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance.

J. Lupski, R. Gibbs, E. Boerwinkle, 2019, American journal of human genetics.

Clinical implementation of RNA sequencing for Mendelian disease diagnostics

Robert W. Taylor, Vicente A. Yépez, J. Gagneur, 2021, Genome Medicine.

Nine newly identified individuals refine the phenotype associated with MYT1L mutations

T. Strom, D. Wieczorek, D. Lessel, 2020, American journal of medical genetics. Part A.

Survival Beyond the Perinatal Period Expands the Phenotypes Caused by Mutations in GLE1

D. Nickerson, T. Strom, M. Bamshad, 2017, bioRxiv.

Mutations in SMARCB1 and in other Coffin–Siris syndrome genes lead to various brain midline defects

D. Wieczorek, U. Nuber, M. Hempel, 2019, Nature Communications.

Genetic Variation in LRP1 Associates with Stanford Type B Aortic Dissection Risk and Clinical Outcome

D. Böckler, C. Schaaf, M. Hempel, 2022, Journal of Cardiovascular Development and Disease.

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

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

Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome

T. Wieland, T. Meitinger, T. Strom, 2012, Journal of Inherited Metabolic Disease.

Mutations in PIGU Impair the Function of the GPI Transamidase Complex, Causing Severe Intellectual Disability, Epilepsy, and Brain Anomalies.

D. Horn, Alexej Knaus, F. Kortüm, 2019, American journal of human genetics.

Heterogeneous phenotypes in families with duplications of the paternal allele within the imprinting center 1 (H19/IGF2:TSS‐DMR) in 11p15.5

T. Eggermann, E. Klopocki, M. Hempel, 2020, Clinical genetics.

Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation.

M. Elstner, T. Meitinger, T. Strom, 2011, American journal of human genetics.

Identification of FOXP1 Deletions in Three Unrelated Patients with Mental Retardation and Significant Speech and Language Deficits

A. Monaco, D. Horn, T. Strom, 2010, Human mutation.

Biallelic FRA10AC1 variants cause a neurodevelopmental disorder with growth retardation.

J. Gleeson, K. Kutsche, M. Hempel, 2021, Brain : a journal of neurology.

Microdeletion syndrome 16p11.2‐p12.2: Clinical and molecular characterization

T. Meitinger, T. Strom, M. Hempel, 2009, American journal of medical genetics. Part A.

Delineation of a 2q deletion in a girl with dysmorphic features and epilepsy

M. Speicher, J. Geigl, M. Hempel, 2006, American journal of medical genetics. Part A.

The motor system is exceptionally vulnerable to absence of the ubiquitously expressed superoxide dismutase-1

M. Nolan, P. Andersen, R. Heller, 2023, Brain communications.

Polyneuropathy, scoliosis, tall stature, and oligodontia represent novel features of the interstitial 6p deletion phenotype

T. Strom, M. Hempel, B. Neubauer, 2008, American journal of medical genetics. Part A.

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.

D. MacArthur, L. Vissers, M. Reijnders, 2016, American journal of human genetics.

Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders

Prescott, N. C. Yeo, S. Nelson, 2020, medRxiv.

Defining clinical subgroups and genotype–phenotype correlations in NBAS-associated disease across 110 patients

R. Russell, H. Prokisch, C. Klein, 2019, Genetics in Medicine.

De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.

A. Hoischen, A. Need, D. Goldstein, 2016, American journal of human genetics.

Integration of proteomics with genomics and transcriptomics increases the diagnostic rate of Mendelian disorders

Vicente A. Yépez, J. Gagneur, T. Meitinger, 2021, medRxiv.

Recessive mutations in VPS13D cause childhood onset movement disorders

H. Prokisch, I. Glass, D. Krainc, 2018, Annals of neurology.

Excessive Seizure Clusters in an Otherwise Well-Controlled Epilepsy as a Possible Hallmark of Untreated Vitamin B6-Responsive Epilepsy due to a Homozygous PLPBP Missense Variant

J. Denecke, M. Hempel, P. Deindl, 2019, Journal of Pediatric Genetics.

Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes

Stephanie E. Vallee, S. Bale, M. Kilby, 2021, Genetics in Medicine.

Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability

T. Strom, K. Devriendt, J. Clayton-Smith, 2018, European Journal of Human Genetics.

Biallelic PAN2 variants in individuals with a syndromic neurodevelopmental disorder and multiple congenital anomalies

A. Bassett, B. Trost, M. Reuter, 2022, European Journal of Human Genetics.

Biallelic PAN2 variants in individuals with a syndromic neurodevelopmental disorder and multiple congenital anomalies

S. Scherer, A. Bassett, B. Trost, 2022, European Journal of Human Genetics.

Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy.

R. Durbin, T. Meitinger, T. Strom, 2016, American journal of human genetics.

Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy

D. Mitter, G. Rubboli, R. Møller, 2019, Neurology. Genetics.

A homozygous missense variant in CACNB4 encoding the auxiliary calcium channel beta4 subunit causes a severe neurodevelopmental disorder and impairs channel and non-channel functions

G. Obermair, B. Flucher, K. Kutsche, 2020, PLoS genetics.

De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features

J. Clayton-Smith, D. Harris, J. Rivière, 2020, Journal of Medical Genetics.

Novel pericentric inversion inv(9)(p23q22.3) in unrelated individuals with fertility problems in the Southeast European population

C. Sismani, T. Liehr, M. Hempel, 2020, Journal of Human Genetics.

Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability

T. Strom, K. Devriendt, J. Clayton-Smith, 2018, European Journal of Human Genetics.

Diagnosing pediatric mitochondrial disease: lessons from 2,000 exomes

Robert W. Taylor, Vicente A. Yépez, J. Gagneur, 2021, medRxiv.

Impaired complex I repair causes recessive Leber’s hereditary optic neuropathy

T. Strom, H. Prokisch, P. Charbel Issa, 2021, The Journal of clinical investigation.

Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits

Robert W. Taylor, H. Prokisch, M. Simpson, 2017, neurogenetics.

Exome Sequencing in Children.

T. Meitinger, T. Strom, F. Kortüm, 2019, Deutsches Arzteblatt international.

Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.

R. Pfundt, D. Smedley, S. Robertson, 2021, American Journal of Human Genetics.

Recurrent multiple spinal paragangliomas as a manifestation of a metastatic composite paraganglioma-ganglioneuroblastoma

B. Meyer, M. Hempel, J. Gempt, 2013, Acta Neurochirurgica.

Diagnostic accuracy of random massively parallel sequencing for non‐invasive prenatal detection of common autosomal aneuploidies: a collaborative study in Europe

M. Hempel, M. Wüstemann, R. Zimmermann, 2014, Prenatal diagnosis.

Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency

Robert W. Taylor, T. Meitinger, S. Seneca, 2015, Front. Genet..

Mitochondrial membrane protein associated neurodegenration: A novel variant of neurodegeneration with brain iron accumulation

H. Prokisch, B. Hemmer, J. Winkelmann, 2013, Movement disorders : official journal of the Movement Disorder Society.

LYRM7 - associated complex III deficiency: A clinical, molecular genetic, MR tomographic, and biochemical study.

H. Prokisch, U. Löbel, T. Haack, 2017, Mitochondrion.

POLR3A variants with striatal involvement and extrapyramidal movement disorder

I. Harting, P. Pouwels, I. Krägeloh-Mann, 2020, neurogenetics.

Clinical , biochemical , and genetic spectrum of seven patients with NFU 1 deficiency

Robert W. Taylor, T. Meitinger, S. Seneca, 2017 .

The Epidemiology behind Pectus Excavatum: Clinical Study and Review of the Literature

M. Hempel, Michael Boettcher, K. Reinshagen, 2021, European Journal of Pediatric Surgery.

Dominant KPNA3 Mutations Cause Infantile‐Onset Hereditary Spastic Paraplegia

Nurit Assia Batzir, N. Orenstein, J. Denecke, 2021, Annals of neurology.

Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders.

Jill A. Madden, P. Grant, A. O’Donnell-Luria, 2021, American journal of human genetics.

Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus

T. Strom, H. Venselaar, R. Maroofian, 2020, Genetics in Medicine.

Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort

H. Prokisch, F. Kortüm, S. Wortmann, 2021, Clinical genetics.

Imbalanced mitochondrial function provokes heterotaxy via aberrant ciliogenesis.

H. Omran, P. Walther, S. Ware, 2019, The Journal of clinical investigation.

Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish

A. V. Vulto-van Silfhout, S. Mehta, Yiping Shen, 2023, Science advances.

Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.

William E. Byrd, David R. Murdock, Marni J. Falk, 2020, Brain : a journal of neurology.

Phenotype in an Infant with SOD1 Homozygous Truncating Mutation.

P. Andersen, S. Marklund, M. Hempel, 2019, The New England journal of medicine.

The natural history of Canavan disease: 23 new cases and comparison with patients from literature

F. Eichler, J. Denecke, M. Hempel, 2021, Orphanet Journal of Rare Diseases.

Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus

T. Strom, C. Kim, H. Venselaar, 2020, Genetics in Medicine.

Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients

D. Mitter, D. Wieczorek, R. Abou Jamra, 2019, Genetics in Medicine.

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.

Novel pericentric inversion inv(9)(p23q22.3) in unrelated individuals with fertility problems in the Southeast European population

C. Sismani, T. Liehr, M. Hempel, 2020, Journal of Human Genetics.

Expanding the phenotypic and biochemical spectrum of NDUFAF3-related mitochondrial disease.

H. Prokisch, M. Hempel, I. Wittig, 2023, Molecular genetics and metabolism.

Next-generation phenotyping integrated in a national framework for patients with ultra-rare disorders improves genetic diagnostics and yields new molecular findings

Heinen, Heiko, Kehrer, 2023, medRxiv.

Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency

N. Stence, K. Haldar, M. Ugarte, 2022, Human molecular genetics.

AXIN1 bi-allelic variants disrupting the C-terminal DIX domain cause craniometadiaphyseal osteosclerosis with hip dysplasia.

M. Maurice, Björn Fischer-Zirnsak, A. Bertoli-Avella, 2023, American journal of human genetics.

Recurrent acute liver failure in alanyl-tRNA synthetase-1 (AARS1) deficiency

H. Prokisch, M. Hempel, R. Santer, 2020, Molecular genetics and metabolism reports.

Biallelic CACNA2D1 loss-of-function variants cause early-onset developmental epileptic encephalopathy

A. Dolphin, I. Zhulin, M. Ruzhnikov, 2022, Brain : a journal of neurology.

Anal atresia, coloboma, microphthalmia, and nasal skin tag in a female patient with 3.5 Mb deletion of 3q26 encompassing SOX2

T. Meitinger, M. Hempel, K. Oexle, 2013, American journal of medical genetics. Part A.

Imbalanced mitochondrial function provokes heterotaxy via aberrant ciliogenesis.

H. Omran, P. Walther, S. Ware, 2019, The Journal of clinical investigation.

De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment.

R. Pfundt, T. Strom, D. Wieczorek, 2015, American Journal of Human Genetics.

First de novo ANK3 nonsense mutation in a boy with intellectual disability, speech impairment and autistic features.

T. Strom, D. Lessel, J. Denecke, 2017, European journal of medical genetics.

16p13.11 microdeletion uncovers loss‐of‐function of a MYH11 missense variant in a patient with megacystis‐microcolon‐intestinal‐hypoperistalsis syndrome

D. Steinemann, B. Lorenz, G. Rosenberger, 2019, Clinical genetics.

Fatty acid synthesis suppresses dietary polyunsaturated fatty acid use

U. Knippschild, M. Hempel, J. Heeren, 2024, Nature communications.

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN 2 A-related disorders

L. Lagae, H. Lerche, G. Rubboli, 2018 .

Identification of a second major locus for neurodegeneration with brain iron accumulation

M. Elstner, T. Meitinger, T. Strom, 2011 .