G. Gillessen‐Kaesbach

发表

Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome.

R Rizzo, J Kunze, M. Kalff-Suske, 1999, Human molecular genetics.

HDAC8 mutations in Cornelia de Lange Syndrome affect the cohesin acetylation cycle

Gabriele Gillessen-Kaesbach, Ryuichiro Nakato, Katsuhiko Shirahige, 2012, Nature.

Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation.

R. Hennekam, J. Tolmie, G. Mortier, 2007, American Journal of Human Genetics.

Marfan syndrome with neonatal progeroid syndrome‐like lipodystrophy associated with a novel frameshift mutation at the 3′ terminus of the FBN1‐gene

P. Robinson, R. Fahsold, L. Graul-Neumann, 2010, American journal of medical genetics. Part A.

Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA–protein interaction

E. Tobias, B. Lorenz, J. Hurst, 2019, Genetics in Medicine.

Clinical and mutational spectrum of Mowat-Wilson syndrome.

I. Krantz, K. Devriendt, H. Firth, 2005, European journal of medical genetics.

Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features

E. Roeder, M. Muenke, J. Mullor, 2003, Proceedings of the National Academy of Sciences of the United States of America.

Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome.

Gabriele Gillessen-Kaesbach, Dagmar Wieczorek, Jacek Majewski, 2012, American journal of human genetics.

ANKRD11 variants: KBG syndrome and beyond

E. Zackai, H. Hakonarson, D. Horn, 2021, Clinical genetics.

Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange‐overlapping phenotype

D. Lazarević, P. Krawitz, E. Watrin, 2016, Clinical genetics.

Phenotype and 244k array‐CGH characterization of chromosome 13q deletions: An update of the phenotypic map of 13q21.1‐qter

J. Fryns, M. Kirchhoff, C. Fagerberg, 2009, American journal of medical genetics. Part A.

Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome.

Gabriele Gillessen-Kaesbach, Dagmar Wieczorek, Na Zhu, 2014, American journal of human genetics.

Towards mapping phenotypical traits in 18p− syndrome by array-based comparative genomic hybridisation and fluorescent in situ hybridisation

A. Hoischen, D. Wieczorek, P. Propping, 2007, European Journal of Human Genetics.

Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1

S. Mundlos, W. Reardon, R. Pauli, 2009, Human mutation.

Identiﬁcation of a frameshift mutation in

E. Passarge, J. Kunz, B. Fritz, 1999 .

Elements of morphology: Standard terminology for the ear

Gabriele Gillessen-Kaesbach, Kenneth Lyons Jones, Alasdair Hunter, 2009, American journal of medical genetics. Part A.

Unexpected Angelman syndrome molecular defect in a girl displaying clinical features of Prader-Willi syndrome

G. Gillessen‐kaesbach, E. Passarge, G. Gillessen‐Kaesbach, 1999 .

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.

Classic and Atypical FOP Phenotypes are Caused by Mutations in the BMP Type I Receptor ACVR 1

S. Mundlos, W. Reardon, R. Pauli, 2011 .

The origin of imprinting defects in Temple syndrome and comparison with other imprinting disorders

T. Eggermann, B. Horsthemke, J. Beygo, 2018, Epigenetics.

Molecular and clinical studies in 8 patients with Temple syndrome

D. Mitter, T. Eggermann, B. Albrecht, 2018, Clinical genetics.

Clinical features of maternal uniparental disomy 14 in patients with an epimutation and a deletion of the imprinted DLK1/GTL2 gene cluster

R. Siebert, W. Lieb, B. Horsthemke, 2008, Human Mutation.

Is there a higher incidence of maternal uniparental disomy 14 [upd(14)mat]? Detection of 10 new patients by methylation‐specific PCR

D. Mitter, D. Wieczorek, U. Mau-Holzmann, 2006, American journal of medical genetics. Part A.

Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations

U. Seedorf, J. Burn, P. Clayton, 2001, European Journal of Human Genetics.

Molecular analysis of a novel intragenic deletion in GPC3 in three cousins with Simpson–Golabi–Behmel syndrome

G. Gillessen‐kaesbach, F. Kaiser, Julia Schmidt, 2017, American journal of medical genetics. Part A.

Genetics of intellectual disability in consanguineous families

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

Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networks

E. Zackai, K. Lage, P. Donahoe, 2012, American journal of medical genetics. Part A.

RAD21 mutations cause a human cohesinopathy.

I. Krantz, H. Hakonarson, M. McKay, 2012, American journal of human genetics.

Oculo-auriculo-vertebral spectrum (OAVS): clinical evaluation and severity scoring of 53 patients and proposal for a new classification.

D. Horn, B. Lorenz, D. Wieczorek, 2005, European journal of medical genetics.

Reproduction abnormalities and twin pregnancies in parents of sporadic patients with oculo-auriculo-vertebral spectrum/Goldenhar syndrome

Stefan Boehringer, D. Wieczorek, B. Horsthemke, 2007, Human Genetics.

Variability in the phenotypic expression of fryns syndrome: A report of two sibships.

W. Holzgreve, H. Rehder, G. Gillessen‐kaesbach, 2000, American journal of medical genetics.

Distal monosomy 18p/distal trisomy 20p—A recognizable facial phenotype?

D. Wieczorek, G. Gillessen‐kaesbach, O. Bartsch, 2003, American journal of medical genetics. Part A.

Prader-Willi syndrome with a karyotype 47,XY,+min(15)(pter->q11.1:) and maternal UPD 15--case report plus review of similar cases.

K. Mrasek, T. Liehr, G. Gillessen‐kaesbach, 2005, European journal of medical genetics.

Genotype-phenotype correlation in a series of 167 deletion and non-deletion patients with Prader-Willi syndrome

B. Horsthemke, D. Lohmann, W. Robinson, 1995, Human Genetics.

Two novel mutations confirm FGD1 is responsible for the Aarskog syndrome

G. Neri, M. May, G. Gillessen‐kaesbach, 2000, European Journal of Human Genetics.

Mutational Spectrum in the Δ7-Sterol Reductase Gene and Genotype-Phenotype Correlation in 84 Patients with Smith-Lemli-Opitz Syndrome

U. Seedorf, P. Clayton, G. Utermann, 2000 .

A new 3p interstitial deletion including the entire MITF gene causes a variation of Tietz/Waardenburg type IIA syndromes

G. Gillessen‐kaesbach, C. Windpassinger, E. Petek, 2007, American journal of medical genetics. Part A.

Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation

Gabriele Gillessen-Kaesbach, Dagmar Wieczorek, Albert David, 2010, Human mutation.

SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome

D. Horn, S. Mundlos, J. Allanson, 2007, Journal of Medical Genetics.

Molecular and clinical characterization of cardio‐facio‐cutaneous (CFC) syndrome: Overlapping clinical manifestations with Costello syndrome

R. Hennekam, H. Cavé, D. Wieczorek, 2007, American journal of medical genetics. Part A.

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.

De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome.

L. Vissers, W. Reardon, E. Bongers, 2012, American journal of human genetics.

Histone acetylation dependent allelic expression imbalance of BAPX1 in patients with the oculo-auriculo-vertebral spectrum.

D. Wieczorek, S. Böhringer, B. Horsthemke, 2006, Human molecular genetics.

Somatic mosaicism for maternal uniparental disomy 15 in a girl with Prader-Willi syndrome: confirmation by cell cloning and identification of candidate downstream genes.

L. Klein-Hitpass, B. Horsthemke, G. Gillessen‐kaesbach, 2003, Human molecular genetics.

Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome

R. Hennekam, H. Cavé, D. Wieczorek, 2006, Nature Genetics.

Epimutations in Prader-Willi and Angelman syndromes: a molecular study of 136 patients with an imprinting defect.

O. el-Maarri, B. Horsthemke, G. Gillessen‐kaesbach, 2003, American journal of human genetics.

Phenotypic spectrum and extent of DNA methylation defects associated with multilocus imprinting disturbances.

S. Bens, R. Siebert, J. Richter, 2016, Epigenomics.

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

K. Friend, M. Shaw, E. Haan, 2015, Molecular Psychiatry.

Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans

K. Lohmann, D. Trujillano, G. Oprea, 2017, Human molecular genetics.

The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant

Bradley P. Coe, Jessie H. Conta, B. Coe, 2015, European Journal of Human Genetics.

Novel deletions affecting the MEG3-DMR provide further evidence for a hierarchical regulation of imprinting in 14q32

A. Green, T. Eggermann, R. Heller, 2014, European Journal of Human Genetics.

Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes

T. Strom, D. Wieczorek, E. Watrin, 2017, Human Genetics.

Somatic mosaicism in patients with Angelman syndrome and an imprinting defect.

Stefan Boehringer, B. Horsthemke, G. Gillessen‐kaesbach, 2004, Human molecular genetics.

Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B.

S. Mundlos, S. Tinschert, G. Gillessen‐kaesbach, 2000, American journal of human genetics.

Maternal transmission of a mild Coffin–Siris syndrome phenotype caused by a SOX11 missense variant

D. Wieczorek, G. Gillessen‐kaesbach, H. Lüdecke, 2021, European journal of human genetics : EJHG.

A new face of Borjeson–Forssman–Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype

D. Horn, D. Wieczorek, F. Degenhardt, 2013, Journal of Medical Genetics.

Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis.

J. Lupski, D. Horn, M. Spielmann, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Exome sequencing identifies a de novo SCN2A mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities

A. Hoischen, J. Veltman, K. Lohmann, 2014, Epilepsia.

A KAT6A variant in a family with autosomal dominantly inherited microcephaly and developmental delay

K. Lohmann, A. Rolfs, C. Klein, 2018, Journal of Human Genetics.

A novel de novo mutation in CSNK2A1: reinforcing the link to neurodevelopmental abnormalities and dysmorphic features

K. Lohmann, G. Gillessen‐kaesbach, J. Trinh, 2017, Journal of Human Genetics.

Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation

Jürgen Kunze, Gabriele Gillessen-Kaesbach, Dagmar Wieczorek, 2004, European Journal of Human Genetics.

Girl with phenotypic abnormalities and a de novo, apparently balanced translocation 46,XX,t(5;10)(q35.2q11.2).

G. Gillessen‐kaesbach, E. Passarge, J. Wirth, 2001, American journal of medical genetics.

Phenotypes and genotypes in individuals with SMC1A variants

I. Krantz, D. Horn, R. Hennekam, 2017, American journal of medical genetics. Part A.

De Novo Heterozygous Mutations in SMC3 Cause a Range of Cornelia de Lange Syndrome‐Overlapping Phenotypes

J. Ganesh, I. Krantz, H. Hakonarson, 2015, Human mutation.

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

Yves Moreau, Gabriele Gillessen-Kaesbach, Dagmar Wieczorek, 2012, Nature Genetics.

Identification and Functional Characterization of Two Intronic NIPBL Mutations in Two Patients with Cornelia de Lange Syndrome

D. Wieczorek, B. Puisac, M. Teresa-Rodrigo, 2016, BioMed research international.

Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly.

D. Horn, B. Gener, D. Lev, 2012, American journal of human genetics.

Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.440 Mb deletion in region 1q44 containing the HNRPU gene.

R. Siebert, J. Martín-Subero, R. Hochstenbach, 2010, European journal of medical genetics.

Bladder exstrophy and extreme genital anomaly in a patient with pure terminal 1q deletion: expansion of phenotypic spectrum.

M. Zaki, G. Gillessen‐kaesbach, A. Caliebe, 2012, European journal of medical genetics.

Short stature in children with an apparently normal male phenotype can be caused by 45,X/46,XY mosaicism and is susceptible to growth hormone treatment

B. Albrecht, G. Gillessen‐kaesbach, B. Hauffa, 2004, European Journal of Pediatrics.

Comparison of phenotype in uniparental disomy and deletion Prader-Willi syndrome: sex specific differences.

S. Christian, S. Schuffenhauer, S. Langlois, 1996, American journal of medical genetics.

Fetal akinesia in metatropic dysplasia: The combined phenotype of chondrodysplasia and neuropathy?

E. Bertini, B. Nilius, G. Gillessen‐kaesbach, 2011, American journal of medical genetics. Part A.

Jeune syndrome with tongue lobulation and preaxial polydactyly, and Jeune syndrome with situs inversus and asplenia: compound heterozygosity Jeune-Mohr and Jeune-Ivemark?

G. Gillessen‐kaesbach, E. Majewski, B. Oztürk, 1996, American journal of medical genetics.

Early onset and slow progression of SCA28, a rare dominant ataxia in a large four-generation family with a novel AFG3L2 mutation

P. Bauer, Z. Kohl, G. Gillessen‐kaesbach, 2010, European Journal of Human Genetics.

Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes.

A. Reis, M. Anvret, B. Horsthemke, 1994, American journal of human genetics.

Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome

C. López-Otín, R. Hennekam, G. Velasco, 2018, Journal of Medical Genetics.

Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly

E. Zackai, J. Rommens, T. Wiltshire, 1999, Nature Genetics.

Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice

I. Jackson, R. Hennekam, H. Brunner, 2011, PLoS genetics.

UvA-DARE ( Digital Academic Repository ) Loss of the BMP Antagonist , SMOC-1 , Causes Ophthalmo-Acromelic ( Waardenburg Anophthalmia ) Syndrome in Humans and Mice

Wieczorek, Dagmar, Rosanna, 2011 .

G. Mortier, D. Fitzpatrick, R. Hennekam, 2007, American journal of human genetics.

Hyperphosphatasia with seizures, neurologic deficit, and characteristic facial features: Five new patients with Mabry syndrome

A. Munnich, M. Thompson, Roberto Mendoza, 2010, American journal of medical genetics. Part A.

Goltz–Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap

D. Wieczorek, C. Spaich, E. Seemanová, 2009, European Journal of Human Genetics.

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.

Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III.

N. Niikawa, K. Devriendt, R. Hennekam, 2001, American journal of human genetics.

A previously unrecognised phenotype characterised by obesity, muscular hypotonia, and ability to speak in patients with Angelman syndrome caused by an imprinting defect

B. Horsthemke, G. Gillessen‐kaesbach, H. Thiele, 1999, European Journal of Human Genetics.

A specific mutation in the distant sonic hedgehog (SHH) cis‐regulator (ZRS) causes Werner mesomelic syndrome (WMS) while complete ZRS duplications underlie Haas type polysyndactyly and preaxial polydactyly (PPD) with or without triphalangeal thumb

D. Wieczorek, Yun Li, B. Wollnik, 2010, Human mutation.

LETTERS TO THE EDITOR Epidermal mosaicism and Blaschko's lines Homozygosity at the dopamine D3 receptor locus is not associated with schizophrenia

Stephen, C. Larsson, M. Nordenskjold, 2004 .

Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I

R. Hennekam, A. Rosenthal, G. Glöckner, 2000, Nature Genetics.

Identification of mutations in CUL7 in 3-M syndrome

A. Munnich, P. Scambler, R. Hennekam, 2005, Nature Genetics.

Characterization of breakpoint sequences of five rearrangements in L1CAM and ABCD1 (ALD) genes

K. Kutsche, E. Schwinger, G. Gillessen‐kaesbach, 2002, Human mutation.

A rapid microarray based whole genome analysis for detection of uniparental disomy

Murat Bastepe, Thomas Eggermann, Andreas Dufke, 2005, Human mutation.

Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint-switch models, genetic counseling, and prenatal diagnosis.

M. Nöthen, H. Smeets, A. V. D. van den Ouweland, 1998, American journal of human genetics.

Clinical spectrum and molecular diagnosis of Angelman and Prader-Willi syndrome patients with an imprinting mutation.

D. J. Driscoll, S. Schwartz, N. Niikawa, 1997, American journal of medical genetics.

Validation studies of SNRPN methylation as a diagnostic test for Prader-Willi syndrome.

D. Ledbetter, J. Sutcliffe, S. Christian, 1996, American journal of medical genetics.

Familial translocations involving 15q11-q13 can give rise to interstitial deletions causing Prader-Willi or Angelman syndrome.

A. V. D. van den Ouweland, B. Horsthemke, G. Gillessen‐kaesbach, 1996, Journal of medical genetics.

Further patient with Angelman syndrome due to paternal disomy of chromosome 15 and a milder phenotype.

B. Horsthemke, B. Albrecht, G. Gillessen‐kaesbach, 1995, American journal of medical genetics.

DNA methylation based testing of 450 patients suspected of having Prader-Willi syndrome.

B. Horsthemke, G. Gillessen‐kaesbach, E. Passarge, 1995, Journal of medical genetics.

Syndrome identification based on 2D analysis software

Tobias Vollmar, Rolf P Wurtz, Gabriele Gillessen-Kaesbach, 2006, European Journal of Human Genetics.

No mutation in genes of the WNT signaling pathway in patients with Zimmermann-Laband syndrome.

Gabriele Gillessen-Kaesbach, Kerstin Kutsche, Martin Zenker, 2008, Clinical dysmorphology.

Clinical variability and novel mutations in the NHEJ1 gene in patients with a Nijmegen breakage syndrome‐like phenotype

I. Demuth, K. Sperling, D. Schindler, 2010, Human mutation.

Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families

S. Nik-Zainal, K. Devriendt, R. Hennekam, 2008, Human mutation.

Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies

Gabriele Gillessen-Kaesbach, Maria Kousi, Alessandro Bruselles, 2015, American journal of human genetics.

Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome.

Dian Donnai, Gabriele Gillessen-Kaesbach, Peter Nürnberg, 2014, American journal of human genetics.

"Mowat-Wilson" syndrome with and without Hirschsprung disease is a distinct, recognizable multiple congenital anomalies-mental retardation syndrome caused by mutations in the zinc finger homeo box 1B gene.

A. Rauch, C. Zweier, B. Albrecht, 2002, American journal of medical genetics.

Genetic Defects in TAPT1 Disrupt Ciliogenesis and Cause a Complex Lethal Osteochondrodysplasia.

A. De Paepe, S. Leikin, G. Gillessen‐kaesbach, 2015, American journal of human genetics.

New insights into the imprinted MEG8-DMR in 14q32 and clinical and molecular description of novel patients with Temple syndrome

D. Wieczorek, T. Eggermann, B. Horsthemke, 2017, European Journal of Human Genetics.

De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

L. Vissers, A. Hoischen, J. Veltman, 2011, Nature Genetics.

Frequency and characterization of DNA methylation defects in children born SGA

S. Bens, R. Siebert, J. Richter, 2012, European Journal of Human Genetics.

A mutation screen in patients with Kabuki syndrome

D. Wieczorek, Yun Li, G. Yigit, 2011, Human Genetics.

Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction

I. Krantz, R. Hennekam, M. Deardorff, 2011, European Journal of Human Genetics.

Further delineation of Kabuki syndrome in 48 well‐defined new individuals

Marc S. Williams, E. Zackai, R. Hennekam, 2005, American journal of medical genetics. Part A.

Alternating Hemiplegia of Childhood as a New Presentation of Adenylate Cyclase 5‐Mutation‐Associated Disease: A Report of Two Cases

V. Fung, A. Lang, A. Kühn, 2017, The Journal of pediatrics.

Exclusion of linkage between autosomal dominant split hand/split foot and markers from chromosome 7q: further evidence for genetic heterogeneity.

M. Genuardi, G. Neri, G. Gillessen‐kaesbach, 1994, American journal of human genetics.

Investigation of recessive ataxia loci in patients with young age of onset.

C. Zühlke, V. Bernard, G. Gillessen‐Kaesbach, 2007, Neuropediatrics.

Exon deletions and intragenic insertions are not rare in ataxia with oculomotor apraxia 2

M. Minnerop, G. Gillessen‐kaesbach, K. Bürk, 2009, BMC Medical Genetics.

Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes

D. Horn, S. Mundlos, S. Tinschert, 2003, European Journal of Human Genetics.

Van der Woude and Popliteal Pterygium Syndromes: Broad intrafamilial variability in a three generation family with mutation in IRF6

P. Sieg, U. Hehr, A. Busche, 2016, American journal of medical genetics. Part A.

Bohring–Opitz (Oberklaid–Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis

J. Tolmie, D. Wieczorek, J. Goodship, 2011, European Journal of Human Genetics.

Exome sequencing identifies compound heterozygous mutations in C12orf57 in two siblings with severe intellectual disability, hypoplasia of the corpus callosum, chorioretinal coloboma, and intractable seizures

T. Strom, T. Schwarzmayr, G. Gillessen‐kaesbach, 2014, American journal of medical genetics. Part A.

Hypophosphatasia: molecular testing of 19 prenatal cases and discussion about genetic counseling

S. Mehta, D. Chitayat, A. Zankl, 2008, Prenatal diagnosis.

Deletions in 16p13 including GRIN2A in patients with intellectual disability, various dysmorphic features, and seizure disorders of the rolandic region

R. Pfundt, R. Siebert, U. Stephani, 2010, Epilepsia.

Chromosom 14-assoziierte Imprintingsyndrome – Temple- und Kagami-Ogata-Syndrome

R. Siebert, G. Gillessen‐kaesbach, M. Elbracht, 2015, medizinische genetik.

Two novel germline KRAS mutations: expanding the molecular and clinical phenotype

M. Ahmadian, Z. Stark, M. Zenker, 2012, Clinical genetics.

Small supernumerary marker chromosomes 1 with a normal phenotype.

J. Hentschel, T. Liehr, R. Wegner, 2010, Journal of the Chinese Medical Association : JCMA.

The dystonia gene DYT1 is repressed by the transcription factor THAP1 (DYT6)

K. Lohmann, C. Klein, D. Braunholz, 2010, Annals of neurology.

Unexpected high frequency of de novo unbalanced translocations in patients with Wolf-Hirschhorn syndrome (WHS)

D. Wieczorek, O. Riess, B. Albrecht, 2000, Journal of medical genetics.

Effect of the size of the deletion and clinical manifestation in Wolf-Hirschhorn syndrome: analysis of 13 patients with a de novo deletion

D. Horn, D. Wieczorek, O. Riess, 2000, European Journal of Human Genetics.

Methylphenidate Can Improve Chorea in NKX2.1 and ADCY5 Mutation‐positive Patients—A Report of Two Children

A. Münchau, C. Klein, J. Bohnenpoll, 2018, Movement disorders clinical practice.

A patient with interstitial deletion of the short arm of chromosome 3 (pter-->p21.2::p12-->qter) and a CHARGE-like phenotype.

D. Wieczorek, G. Gillessen‐kaesbach, K. Schwechheimer, 1997, American journal of medical genetics.

Identification of a frameshift mutation in the gene TWISTin a family affected with Robinow-Sorauf syndrome

G. Gillessen‐kaesbach, E. Passarge, J. Kunz, 1999, Journal of Medical Genetics.

Phenotype in SMC 1 A Phenotypes and Genotypes in Individuals with SMC 1 A Mutations

Chris, Valérie, R. Hennekam, 2018 .

De Novo Heterozygous Mutations in SMC 3 Cause a Range of Cornelia de Lange Syndrome-Overlapping Phenotypes Marı́a

J. Ganesh, I. Krantz, H. Hakonarson, 2015 .

Lange Syndrome-overlapping phenotypes

J. Ganesh, H. Hakonarson, Yiran Guo, 2014 .

A family with autosomal dominant oculo-auriculo-vertebral spectrum

D. Wieczorek, S. Böhringer, G. Gillessen‐kaesbach, 2007, Clinical dysmorphology.

SNURF-SNRPN and UBE3A transcript levels in patients with Angelman syndrome

D. Horn, B. Horsthemke, G. Gillessen‐kaesbach, 2004, Human Genetics.

The adult phenotype of Schaaf-Yang syndrome

C. Schaaf, C. Stumpel, B. Horsthemke, 2020, Orphanet Journal of Rare Diseases.

Comprehensive methylation analysis in typical and atypical PWS and AS patients with normal biparental chromosomes 15

B. Horsthemke, G. Gillessen‐kaesbach, L. Maldergem, 2001, European Journal of Human Genetics.

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.

I. Krantz, H. Hakonarson, E. Roeder, 2014, Human molecular genetics.

Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent-of-origin specific DNA methylation in 15q11-13

H. Knoblauch, B. Horsthemke, W. Robinson, 1992, Human Genetics.

Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival.

B. Fernandez, J. Al-Aama, S. Mundlos, 2009, Human molecular genetics.

Impact of geometry and viewing angle on classification accuracy of 2D based analysis of dysmorphic faces.

Tobias Vollmar, Baerbel Maus, Rolf P Wurtz, 2008, European journal of medical genetics.

Bilateral complete polysyndactyly (type IV Haas).

G. Gillessen‐kaesbach, F. Majewski, G. Gillessen‐Kaesbach, 1991, American journal of medical genetics.

The first missense alteration in the MCPH1 gene causes autosomal recessive microcephaly with an extremely mild cellular and clinical phenotype

K. Sperling, D. Schindler, A. Jackson, 2005, Human mutation.

X‐linked Dystonia‐Parkinsonism manifesting in a female patient due to atypical turner syndrome

R. Siebert, K. Lohmann, D. Dressler, 2013, Movement disorders : official journal of the Movement Disorder Society.

Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations

J. Opitz, K. Devriendt, H. Firth, 2005, American journal of medical genetics. Part A.

Microcephaly, microtia, preauricular tags, choanal atresia and developmental delay in three unrelated patients: A mandibulofacial dysostosis distinct from Treacher Collins syndrome

N. de Leeuw, B. Gener, L. Hoefsloot, 2009, American journal of medical genetics. Part A.

Mutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralization.

J. Goodship, S. Twigg, S. McGowan, 2012, American journal of human genetics.

Molecular Genetics of Fibrodysplasia Ossificans Progressiva

G. Gillessen‐kaesbach, Irina Hüning, G. Gillessen‐Kaesbach, 2016 .

Fibrodysplasia Ossificans Progressiva: Clinical Course, Genetic Mutations and Genotype-Phenotype Correlation

G. Gillessen‐kaesbach, Irina Hüning, G. Gillessen‐Kaesbach, 2014, Molecular Syndromology.

A large-scale mutation search reveals genetic heterogeneity in 3M syndrome

D. Sillence, A. Munnich, J. Melki, 2009, European Journal of Human Genetics.

Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway.

A. Hoischen, R. Pfundt, A. Nordgren, 2014, American journal of human genetics.

Multiple subcutaneous granular-cell tumours in a patient with Noonan syndrome.

D. Lohmann, G. Gillessen‐kaesbach, G. Gillessen‐Kaesbach, 2000, Clinical dysmorphology.

The differentially methylated region of MEG8 is hypermethylated in patients with Temple syndrome.

S. Bens, R. Siebert, O. Ammerpohl, 2015, Epigenomics.

Array-based DNA methylation analysis in individuals with developmental delay/intellectual disability and normal molecular karyotype.

S. Bens, R. Siebert, U. Stephani, 2015, European journal of medical genetics.

Expanding the clinical spectrum of the ‘HDAC8‐phenotype’ – implications for molecular diagnostics, counseling and risk prediction

T. Strom, D. Wieczorek, E. Watrin, 2016, Clinical genetics.

Reduced penetrance in a family with X-linked dominant chondrodysplasia punctata.

K. Grzeschik, G. Gillessen‐kaesbach, Y. Hellenbroich, 2007, European journal of medical genetics.

Inversion duplication of the short arm of chromosome 8: clinical data on seven patients and review of the literature.

B. D. de Vries, J. Fryns, C. D. de Die-Smulders, 1995, American journal of medical genetics.

“Twitching” and Stiffness in POLG1 Mutation Carriers: Red Flag or Red Herring?

A. Münchau, G. Gillessen‐kaesbach, T. Bäumer, 2020, Movement disorders clinical practice.

Spinocerebellar ataxia 28: a novel AFG3L2 mutation in a German family with young onset, slow progression and saccadic slowing

D. Timmann, D. Wieczorek, K. Bürk, 2015, Cerebellum & Ataxias.

The cohesin protein NIPBL recruits histone deacetylases to mediate local chromatin modifications

M. Albrecht, G. Gillessen‐kaesbach, F. Kaiser, 2009 .

Correction: Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice

I. Jackson, R. Hennekam, H. Brunner, 2018, PLoS Genetics.

Loss-of-function mutations in ATP 6 V 0 A 2 impair vesicular trafficking , tropoelastin secretion and cell survival

Abuelo, Björn, J. Al-Aama, 2009 .

A de novo 0.57 Mb microdeletion in chromosome 11q13.1 in a patient with speech problems, autistic traits, dysmorphic features and multiple endocrine neoplasia type 1.

R. Siebert, G. Gillessen‐kaesbach, A. Caliebe, 2011, European journal of medical genetics.

Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNAâ€“protein interaction

E. Tobias, P. Calvas, J. Marsh, 2019 .

Absence of thumbs, A/hypoplasia of radius, hypoplasia of ulnae, retarded bone age, short stature, microcephaly, hypoplastic genitalia, and mental retardation.

D. Wieczorek, B. Köster, G. Gillessen‐Kaesbach, 2002, American journal of medical genetics.

Identification of 34 novel and 56 known FOXL2 mutations in patients with blepharophimosis syndrome

T. de Ravel, R. Hennekam, J. Clayton-Smith, 2008, Human mutation.

Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome.

U. Seedorf, P. Clayton, G. Utermann, 2000, American journal of human genetics.

Two brothers with Burn‐McKeown syndrome

D. Wieczorek, D. Lohmann, G. Gillessen‐kaesbach, 2003, Clinical dysmorphology.

Mutational Spectrum in the D7-Sterol Reductase Gene and Genotype- Phenotype Correlation in 84 Patients with Smith-Lemli-Opitz Syndrome

U. Seedorf, G. Utermann, G. Hoffmann, 2022 .

A novel missense mutation in CACNA1A evaluated by in silico protein modeling is associated with non-episodic spinocerebellar ataxia with slow progression.

T. Wieland, T. Strom, L. Schöls, 2014, European journal of medical genetics.

A recessive form of extreme macrocephaly and mild intellectual disability complements the spectrum of PTEN hamartoma tumour syndrome

H. Uhlig, R. Abou Jamra, A. Reis, 2015, European Journal of Human Genetics.

Beneficial prenatal levodopa therapy in autosomal recessive guanosine triphosphate cyclohydrolase 1 deficiency.

U. Stephani, S. Schneider, N. Brüggemann, 2012, Archives of neurology.

Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival.

B. Fernandez, J. Al-Aama, S. Mundlos, 2009, Human molecular genetics.

Mutation and phenotypic spectrum in patients with cardio‐facio‐cutaneous and Costello syndrome

D. Horn, S. Uhrig, B. Tüysüz, 2007, Clinical genetics.

Genotype–phenotype correlation in eight new patients with a deletion encompassing 2q31.1

R. Siebert, G. Mortier, B. Menten, 2010, American journal of medical genetics. Part A.

Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.440 Mb deletion in region 1q44 containing the HNRPU gene.

R. Siebert, J. Martín-Subero, R. Hochstenbach, 2010, European journal of medical genetics.

RAD21 mutations cause a human cohesinopathy.

I. Krantz, H. Hakonarson, M. McKay, 2012, American journal of human genetics.

Truncating mutations in THAP1 define the nuclear localization signal

N. Brüggemann, K. Lohmann, A. Münchau, 2011, Movement disorders : official journal of the Movement Disorder Society.

Protocol of the Luebeck longitudinal investigation of SARS-CoV-2 infection (ELISA) study – a prospective population-based cohort study

J. Rupp, A. Katalinic, C. Sina, 2022, BMC Public Health.

G. Mortier, R. Hennekam, G. Nürnberg, 2007, American journal of human genetics.

Detection of small RB1 gene deletions in retinoblastoma by multiplex PCR and high-resolution gel electrophoresis

H. Höfler, B. Horsthemke, D. Lohmann, 1992, Human Genetics.

Hidden Mutations in Cornelia de Lange Syndrome Limitations of Sanger Sequencing in Molecular Diagnostics

E. Watrin, K. Wendt, D. Braunholz, 2015, Human mutation.

Novel mosaic variants in two patients with Cornelia de Lange syndrome.

T. Strom, E. Watrin, K. Wendt, 2017, European journal of medical genetics.

Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange‐overlapping phenotype

D. Lazarević, P. Krawitz, E. Watrin, 2016, Clinical Genetics.

Somatic mosaicism in a Cornelia de Lange syndrome patient with NIPBL mutation identified by different next generation sequencing approaches

T. Strom, B. Gener, T. Schwarzmayr, 2014, Clinical genetics.

Assisted reproductive technologies do not enhance the variability of DNA methylation imprints in human

J. Walter, K. Sperling, M. Groth, 2009, Journal of Medical Genetics.

imprints in human enhance the variability of DNA methylation Assisted reproductive technologies do not

J. Walter, K. Sperling, M. Groth, 2009 .

Nicolaides–Baraitser syndrome: Delineation of the phenotype

Gabriele Gillessen-Kaesbach, Alex Magee, Alain Verloes, 2009, American journal of medical genetics. Part A.