H. Kayserili

H. Kayserili, A. Dirican, R. Rosti, 2017, Clinical psychopharmacology and neuroscience : the official scientific journal of the Korean College of Neuropsychopharmacology.

Mutations in RIPK4 cause the autosomal-recessive form of popliteal pterygium syndrome.

H. Kayserili, S. Pillai, A. Cansu, 2012, American journal of human genetics.

Clinical and Radiographic Features of the Autosomal Recessive form of Brachyolmia Caused by PAPSS2 Mutations

H. Kayserili, N. Elçioglu, H. Ohashi, 2013, Human mutation.

Twins with hereditary sensory and autonomic neuropathy type IV with preserved periodontal sensation.

H. Kayserili, P. Kantaputra, U. Altunoğlu, 2014, European journal of medical genetics.

Opsismodysplasia resulting from an insertion mutation in the SH2 domain, which destabilizes INPPL1

D. Nickerson, M. Bamshad, H. Kayserili, 2014, American journal of medical genetics. Part A.

Newly described clinical features in two siblings with MACS syndrome and a novel mutation in RIN2

H. Kayserili, U. Altunoğlu, E. Aslanger, 2014, American journal of medical genetics. Part A.

Loss of PYCR2 Causes Neurodegeneration by Increasing Cerebral Glycine Levels via SHMT2

H. Kayserili, H. Hamada, J. Grandjean, 2020, Neuron.

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

Golder N Wilson, A. V. Vulto-van Silfhout, R. Pfundt, 2018, Genetics in Medicine.

A novel homozygous COL11A2 deletion causes a C‐terminal protein truncation with incomplete mRNA decay in a Turkish patient

H. Kayserili, B. Wollnik, Z. Uyguner, 2011, American journal of medical genetics. Part A.

A de novo complex chromosomal rearrangement involving chromosomes 2, 8 and 13 in a dysmorphic case with polysyndactyly.

H. Kayserili, R. Rosti, S. Basaran, 2009, The Turkish journal of pediatrics.

Distinguishing the four genetic causes of jouberts syndrome–related disorders

E. Bertini, M. Koenig, H. Kayserili, 2005, Annals of neurology.

Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria.

H. Kayserili, J. Gleeson, L. Al-Gazali, 2004, American journal of human genetics.

The identification of small supernumerary marker chromosomes; the experiences of 15,792 fetal karyotyping from Turkey.

H. Kayserili, G. Toksoy, S. Basaran, 2006, European journal of medical 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 .

Expanding the molecular spectrum of pathogenic SHOC2 variants underlying Mazzanti syndrome

H. Cavé, H. Kayserili, M. Tartaglia, 2022, Human molecular genetics.

Clinical and molecular genetic findings of Crisponi/cold‐induced sweating syndrome (CS/CISS) spectrum in patients from Turkey

H. Kayserili, Elif Yilmaz Gulec, A. Gezdirici, 2022, Clinical genetics.

An unusual cause of nephrotic syndrome: Answers

A. Nayır, H. Kayserili, S. Emre, 2018, Pediatric Nephrology.

17 b -Hydroxysteroid Dehydrogenase-3 Deficiency: Diagnosis, Phenotypic Variability, Population Genetics, and Worldwide Distribution of Ancient and de Novo Mutations*

H. Kayserili, L. Sandkuijl, H. Delemarre-van de Waal, 1999 .

A homozygous pathogenic missense variant broadens the phenotypic and mutational spectrum of CREB3L1-related osteogenesis imperfecta.

H. Kayserili, A. De Paepe, P. Coucke, 2019, Human molecular genetics.

Clinicogenetic study of Turkish patients with syndromic craniosynostosis and literature review.

H. Kayserili, G. Lüleci, Suray Pehlivanoglu, 2014, Pediatric neurology.

HOLOPROSENCEPHALY: CHROMOSOMAL ABNORMALITIES IN THE ETIOPATHOGENESIS OF 127 ANTENATAL CASES

H. Kayserili, S. Basaran, A. Yüksel, 2021 .

Severe manifestations of hand‐foot‐genital syndrome associated with a novel HOXA13 mutation

H. Kayserili, N. Matsumoto, N. Miyake, 2014, American journal of medical genetics. Part A.

The R110C mutation in Notch3 causes variable clinical features in two Turkish families with CADASIL syndrome

H. Kayserili, B. Wollnik, G. Akman-Demir, 2006, Journal of the Neurological Sciences.

Migraine, White Matter Lesions and Subarachnoid Hemorrhage: Analysis of a Large Pedigree

H. Kayserili, B. Baykan, Z. Matur, 2010 .

Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

A. V. Vulto-van Silfhout, R. Pfundt, B. D. de Vries, 2019, Genetics in Medicine.

A new locus for autosomal recessive non‐syndromic mental retardation maps to 1p21.1–p13.3

H. Hennies, H. Kayserili, G. Nürnberg, 2007, Clinical genetics.

Establishment of a Nonradioactive Molecular Diagnosis of Fragile-X Syndrome *

H. Kayserili, B. Wollnik, T. Tukel, 2000 .

Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency

P. Vreken, M. Durán, E. Holme, 1999, Human Genetics.

Identification of point mutations in Turkish DMD/BMD families using multiplex-single stranded conformation analysis (SSCA)

B. Kirdar, H. Kayserili, S. Eraslan, 1999, European Journal of Human Genetics.

European Society of Human Genetics (2018). Recontacting patients in clinical genetics services: recommendations of the European Society of Human Genetics. European Journal of Human Genetics .

N. Hawkins, A. Clarke, H. Kayserili, 2018 .

RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6

H. Kayserili, N. Barker, C. Bénéteau, 2018, Nature.

Prenatal ultrasonographic features in Blomstrand osteochondrodysplasia: Antenatal case series confirmed by postmortem radiology and molecular diagnosis

H. Kayserili, G. Nishimura, U. Altunoğlu, 2022, Prenatal diagnosis.

Molecular genetic screening of MBS1 locus on chromosome 13 for microdeletions and exclusion of FGF9, GSH1 and CDX2 as causative genes in patients with Moebius syndrome.

B. Tatlı, H. Kayserili, G. Toksoy, 2009, European journal of medical genetics.

Expanding the spectrum of syndromic PPP2R3C‐related XY gonadal dysgenesis to XX gonadal dysgenesis

H. Kayserili, K. Girisha, A. Shukla, 2021, Clinical genetics.

Fraser syndrome due to mutations in GRIP1—Clinical phenotype in two families and expansion of the mutation spectrum

H. Kayserili, M. Zenker, D. Schanze, 2014, American journal of medical genetics. Part A.

Biallelic TERT variant leads to Hoyeraal–Hreidarsson syndrome with additional dyskeratosis congenita findings

H. Kayserili, L. A. Moheb, Maria Eugenia Rocha, 2021, American journal of medical genetics. Part A.

Sclerosing bone dysplasias with hallmarks of dysosteosclerosis in four patients carrying mutations in SLC29A3 and TCIRG1.

H. Kayserili, Björn Fischer-Zirnsak, U. Kornak, 2019, Bone.

Further characterization of ATP6V0A2-related autosomal recessive cutis laxa

S. Mundlos, H. Kayserili, M. Kabra, 2012, Human Genetics.

Mutations in capillary morphogenesis gene-2 result in the allelic disorders juvenile hyaline fibromatosis and infantile systemic hyalinosis.

J. Martignetti, H. Kayserili, A. Difeo, 2003, American journal of human genetics.

Spectrum of mutations in the Fanconi anaemia group G gene, FANCG/XRCC9

C. Mathew, M. Thiel, H. Kayserili, 2000, European Journal of Human Genetics.

CLINICAL CLASSIFICATION OF RADIAL RAY DEFECTS AND RESEARCH INTO ETIOPATHOGENESIS

H. Kayserili, G. Toksoy, U. Altunoğlu, 2018, European Oral Research.

C5orf42 is the major gene responsible for OFD syndrome type VI

H. Kayserili, J. Rivière, D. Lacombe, 2014, Human Genetics.

Unusual molecular findings in autosomal recessive spinal muscular atrophy.

K. Devriendt, H. Kayserili, G. Matthijs, 1996, Journal of medical genetics.

Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog

M. Spence, S. Bale, A. Paulussen, 2012, Journal of Medical Genetics.

H. Kayserili, U. Altunoğlu, A. Yüksel, 2016, Prenatal diagnosis.

Harlequin ichthyosis: a review of clinical and molecular findings in 45 cases.

D. Kelsell, H. Kayserili, C. Mein, 2011, Archives of dermatology.

Ungual squamous cell carcinoma in a patient with Mal de Meleda

H. Kayserili, C. Baykal, Z. Uyguner, 2016, Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG.

Mild nasal malformations and parietal foramina caused by homozygous ALX4 mutations

H. Kayserili, U. Altunoğlu, Z. Uyguner, 2012, American journal of medical genetics. Part A.

Homozygous and heterozygous inheritance of PAX3 mutations causes different types of Waardenburg syndrome

H. Kayserili, B. Wollnik, T. Tukel, 2003, American journal of medical genetics. Part A.

Novel and recurrent mutations in the integrin beta 4 subunit gene causing lethal junctional epidermolysis bullosa with pyloric atresia

H. Kayserili, G. Zambruno, E. Silvestri, 2003, Experimental dermatology.

Gorlin's Syndrome: Case Report and Management Protocol

H. Kayserili, R. Rosti, A. Irem, 2009 .

Pallister-Killian syndrome: clinical, cytogenetic and molecular findings in 15 cases

H. Kayserili, G. Toksoy, U. Altunoğlu, 2018, Molecular Cytogenetics.

Detection of Y chromosomal material in patients with a 45,X karyotype by PCR method.

H. Kayserili, N. Şatıroğlu-Tufan, B. Tuysuz, 2007, The Tohoku journal of experimental medicine.

Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome.

C. Walsh, H. Brunner, B. van der Zwaag, 2002, American journal of human genetics.

Characteristic dental pattern with hypodontia and short roots in Fraser syndrome

H. Kayserili, A. Bloch-Zupan, M. Zenker, 2020, American journal of medical genetics. Part A.

A rare cause of chronic hyponatremia in an infant: Answers

H. Kayserili, I. Bilge, Ş. Hatun, 2019, Pediatric Nephrology.

Orodental findings of a family with lacrimo-auriculo-dento digital (LADD) syndrome.

H. Kayserili, R. Rosti, E. Tuna, 2008, Oral surgery, oral medicine, oral pathology, oral radiology, and endodontics.

Mutations in different components of FGF signaling in LADD syndrome

C. Cremers, H. Brunner, H. Kayserili, 2006, Nature Genetics.

A rare mutation [IVS‐I‐130 (G‐A)] in a Turkish β‐thalassemia major patient

S. Kantarci, H. Kayserili, O. Bilenoğlu, 2000 .

DOCK6 Mutations Are Responsible for a Distinct Autosomal‐Recessive Variant of Adams–Oliver Syndrome Associated with Brain and Eye Anomalies

M. Skalej, S. Mundlos, B. Tüysüz, 2015, Human mutation.

Mutations in BCKD-kinase Lead to a Potentially Treatable Form of Autism with Epilepsy

Robert A Harris, Stephan J Sanders, Matthew W State, 2012, Science.

CEP152 is a genome maintenance protein disrupted in Seckel syndrome

Martin S. Taylor, J. Aerts, M. Hurles, 2011, Nature Genetics.

Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis

J. Lupski, R. Gibbs, E. Boerwinkle, 2018, Human Genetics.

A biallelic ANTXR1 variant expands the anthrax toxin receptor associated phenotype to tooth agenesis

J. Lupski, R. Gibbs, E. Boerwinkle, 2018, American journal of medical genetics. Part A.

Whole-Exome Sequencing Identifies Novel Variants for Tooth Agenesis

J. Lupski, R. Gibbs, E. Boerwinkle, 2018, Journal of dental research.

DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome.

B. V. van Bon, A. V. Vulto-van Silfhout, A. Hoischen, 2015, American journal of human genetics.

Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomas

G. Gyapay, A. Smahi, C. Bodemer, 2017, Nature Medicine.

Cleidocranial dysplasia: Clinical, endocrinologic and molecular findings in 15 patients from 11 families.

H. Kayserili, S. Poyrazoglu, F. Baş, 2017, European journal of medical genetics.

MYO15A (DFNB3) mutations in Turkish hearing loss families and functional modeling of a novel motor domain mutation

C. Cremers, E. Krieger, H. Brunner, 2007, American Journal of Medical Genetics. Part A.

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.

Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X‐Linked Kabuki Syndrome Subtype 2

T. Meitinger, T. Strom, D. Wieczorek, 2016, Human mutation.

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.

GLI1 inactivation is associated with developmental phenotypes overlapping with Ellis–van Creveld syndrome

M. Burmeister, H. Kayserili, P. Lapunzina, 2017, Human molecular genetics.

Molecular characterisation of a new case of microphthalmia with linear skin defects (MLS)

A. Ballabio, H. Kayserili, T. Cox, 2001, Journal of medical genetics.

De novo mutations in PLXND1 and REV3L cause Möbius syndrome

A. Hoischen, N. de Wind, D. Schubert, 2015, Nature Communications.

Functional loss of ubiquitin‐specific protease 14 may lead to a novel distal arthrogryposis phenotype

H. Kayserili, G. Toksoy, U. Altunoğlu, 2022, Clinical genetics.

Holt-Oram syndrome because of the novel TBX5 mutation c.481A>C.

H. Kayserili, G. Toksoy, U. Altunoğlu, 2016, Clinical dysmorphology.

Mild nasal clefting may be predictive for ALX4 heterozygotes

H. Kayserili, U. Altunoğlu, Z. Uyguner, 2014, American journal of medical genetics. Part A.

Clinical manifestations of 17 patients affected with mucopolysaccharidosis type VI and eight novel ARSB mutations

H. Kayserili, P. Tanpaiboon, A. Dalal, 2014, American journal of medical genetics. Part A.

Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa.

S. Mundlos, H. Kayserili, D. Chitayat, 2013, Molecular genetics and metabolism.

Short Rib Polydactyly Syndrome Type 3 with Absence of Fibulae (Verma-Naumoff Syndrome)

H. Kayserili, P. Kumru, Ö. Peker, 2005, Fetal Diagnosis and Therapy.

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism

Martin S. Taylor, A. Green, M. Bitner-Glindzicz, 2014, Journal of Medical Genetics.

Biallelic Mutations in the 3’ Exonuclease TOE1 Cause Pontocerebellar Hypoplasia and Uncover a Role in snRNA Processing

Gene W. Yeo, S. Gabriel, F. Baas, 2016, Nature Genetics.

Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations

R. Hennekam, L. Biesecker, J. Graham, 2010, Human mutation.

A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.

K. Devriendt, J. Vermeesch, B. Gener, 2013, Human molecular genetics.

CLP1 Founder Mutation Links tRNA Splicing and Maturation to Cerebellar Development and Neurodegeneration

Xiang-Dong Fu, Frank Baas, Murat Gunel, 2014, Cell.

Overarching control of autophagy and DNA damage response by CHD6 revealed by modeling a rare human pathology

B. V. van Bon, A. Hoischen, H. Brunner, 2020, Nature Communications.

Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction

S. Gabriel, J. Casanova, E. Dikoglu, 2015, Nature Genetics.

Seven cases of Wiedmann-Beckwith syndrome, including the first reported case of mosaic paternal isodisomy along the whole chromosome 11.

H. Kayserili, A. Schinzel, G. Hebisch, 1998, American journal of medical genetics.

A novel semiquantitative polymerase chain reaction/enzyme digestion-based method for detection of large scale deletions/conversions of the CYP21 gene and mutation screening in Turkish families with 21-hydroxylase deficiency.

H. Kayserili, F. Baş, B. Wollnik, 2003, The Journal of clinical endocrinology and metabolism.

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

Colin A. Johnson, Nancy F. Hansen, R. Gibbs, 2011, Nature Genetics.

Mutations in PYCR1 cause cutis laxa with progeroid features

Peter Nürnberg, Stefan Mundlos, Barry Merriman, 2009, Nature Genetics.

Prenatal Evaluation of Fetuses Presenting with Short Femurs

H. Kayserili, A. Yüksel, F. G. Ugurlucan, 2012 .

Clinical and Molecular Characterization of Fanconi Anemia Patients in Turkey

B. Tüysüz, H. Kayserili, T. Celkan, 2020, Molecular Syndromology.

Use of Vitamin D in Children and Adults: Frequently Asked Questions

H. Kayserili, F. Baş, F. Darendeliler, 2018, Journal of clinical research in pediatric endocrinology.

Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion

E. Jabs, Q. Waisfisz, H. Kayserili, 2005, Nature Genetics.

LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome.

P. Scambler, R. Hennekam, J. Clayton-Smith, 2010, American journal of human genetics.

Array-comparative Genomic Hybridization Results in Clinically Affected Cases with Apparently Balanced Chromosomal Rearrangements

H. Kayserili, B. Karaman, R. Has, 2020, Balkan journal of medical genetics : BJMG.

Heterozygous pathogenic variants in GLI1 are a common finding in isolated postaxial polydactyly A/B

E. Aller, H. Kayserili, P. Lapunzina, 2020, Human mutation.

APPLICATION OF MLPA (MULTIPLEX LIGATION-DEPENDENT PROBE AMPLIFICATION) IN FETUSES WITH AN ABNORMAL SONOGRAM AND NORMAL KARYOTYPE

H. Kayserili, P. Miny, G. Toksoy, 2019, İstanbul Tıp Fakültesi Dergisi.

Studies on the pathogenesis of Costello syndrome

H. Kayserili, W. Kleijer, M. Di Rocco, 2003, Journal of medical genetics.

A large duplication involving the IHH locus mimics acrocallosal syndrome

K. Grzeschik, H. Kayserili, G. Nürnberg, 2012, European Journal of Human Genetics.

Bi-allelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 over-activity and disordered cortical neuronal migration

Kiely N. James, Martin W. Breuss, I. Miller, 2018, Nature Genetics.

Oral manifestations of 17 patients affected with mucopolysaccharidosis type VI

H. Kayserili, P. Tanpaiboon, A. Dalal, 2014, Journal of Inherited Metabolic Disease.

Fetal skeletal dysplasia cohort of a single tertiary referral center in Istanbul, Turkey

H. Kayserili, U. Altunoğlu, A. Yüksel, 2022, American journal of medical genetics. Part A.

Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome

Han G. Brunner, Hülya Kayserili, Flemming Skovby, 2000, Nature Genetics.

RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome.

T. Meitinger, T. Strom, A. F. Stewart, 2015, The Journal of clinical investigation.

Clinical findings in patients with RAP 1 A / RAP 1 B mutations Symptom Frequency in KSA RAP 1 A patient RAP 1

T. Meitinger, T. Strom, A. F. Stewart, 2015 .

Imatinib response of gastrointestinal stromal tumor patients with germline mutation on KIT exon 13: A family report

H. Kayserili, H. Akman, S. Eraslan, 2017, World journal of radiology.

Responsible implementation of expanded carrier screening

H. Kayserili, B. Peterlin, S. Janssens, 2016, European Journal of Human Genetics.

The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity.

Francesca Forzano, Hui Zou, Susan Chang, 2008, Human molecular genetics.

Mutations in IRX5 impair craniofacial development and germ cell migration via SDF1

S. Nelson, B. Merriman, E. Uz, 2012, Nature Genetics.

Recontacting patients in clinical genetics services European Society of Human Genetics

N. Hawkins, A. Clarke, H. Kayserili, 2018 .

Cantú syndrome is caused by mutations in ABCC9.

B. V. van Bon, A. Hoischen, B. D. de Vries, 2012, American journal of human genetics.

Mutations in KATNB1 Cause Complex Cerebral Malformations by Disrupting Asymmetrically Dividing Neural Progenitors

S. Mane, H. Per, N. Šestan, 2015, Neuron.

Mutations in KATNB1 Cause Complex Cerebral Malformations by Disrupting Asymmetrically Dividing Neural Progenitors

S. Mane, H. Per, N. Šestan, 2014, Neuron.

Extreme Growth Failure is a Common Presentation of Ligase IV Deficiency

M. Hurles, C. Woods, H. Firth, 2013, Human mutation.

TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities.

M. Fornerod, L. D. de Vries, A. Afenjar, 2019, American journal of human genetics.

BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance.

J. Lupski, P. Scambler, R. Lewis, 2002, American journal of human genetics.

Further delineation of Frank–ter Haar syndrome

R. Hennekam, H. Kayserili, S. Maas, 2004, American journal of medical genetics. Part A.

Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes

T. Mazza, H. Van Esch, H. Kayserili, 2016, Journal of Medical Genetics.

Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders

Colin A. Johnson, S. Gabriel, E. Bertini, 2013, European Journal of Human Genetics.

Clinical exome sequencing in neuromuscular diseases: an experience from Turkey

H. Kayserili, E. Vanli-yavuz, S. Eraslan, 2020, Neurological Sciences.

Identification of the parental origin of polysomy in two 49,XXXXY cases

B. Kirdar, H. Kayserili, A. Çelik, 1997, Clinical genetics.

Natural History of Congenital Generalized Lipodystrophy: A Nationwide Study From Turkey.

H. Kayserili, A. Garg, B. Tuysuz, 2016, The Journal of clinical endocrinology and metabolism.

An unusual presentation of Kabuki syndrome with orbital cysts, microphthalmia, and cholestasis with bile duct paucity

H. Kayserili, P. Nürnberg, J. Altmüller, 2016, American journal of medical genetics. Part A.

Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans

H. Kayserili, A. De Paepe, H. Bächinger, 2013, Orphanet Journal of Rare Diseases.

Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan

Christian Gilissen, Han G. Brunner, Michael F. Buckley, 2012, Nature Genetics.

Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome

D. Wieczorek, H. Kayserili, D. Goudie, 2013, Human Genetics.

Variants in members of the cadherin–catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome

R. Hennekam, H. Kayserili, P. Lapunzina, 2018, European Journal of Human Genetics.

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

Patricia H. Wheeler, A. V. Vulto-van Silfhout, R. Pfundt, 2018, Genetics in Medicine.

Mutational screening of BASP1 and transcribed processed pseudogene TPPsig-BASP1 in patients with Möbius syndrome.

B. Tatlı, H. Kayserili, G. Toksoy, 2009, Journal of genetics and genomics = Yi chuan xue bao.

Clinical and genetic spectrum from a prototype of ciliopathy: Joubert syndrome

H. Kayserili, A. Gezdirici, B. Ekici, 2022, Clinical Neurology and Neurosurgery.

A new syndrome, congenital extraocular muscle fibrosis with ulnar hand anomalies, maps to chromosome 21qter

H. Hennies, H. Kayserili, R. Desnick, 2005, Journal of Medical Genetics.

Evaluation of growth, puberty, osteoporosis, and the response to long‐term bisphosphonate therapy in four patients with osteoporosis‐pseudoglioma syndrome

H. Kayserili, S. Poyrazoglu, F. Baş, 2022, American journal of medical genetics. Part A.

A mutation in the signal sequence of LRP5 in a family with an osteoporosis‐pseudoglioma syndrome (OPPG)‐like phenotype indicates a novel disease mechanism for trinucleotide repeats

A. Ramírez, Minrong Ai, H. Kayserili, 2009, Human mutation.

De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development

Asif Javed, Shifeng Xue, H. Kayserili, 2017, Nature Genetics.

Loss of Iroquois homeobox transcription factors 3 and 5 in osteoblasts disrupts cranial mineralization

B. Bruneau, E. Hsiao, H. Kayserili, 2016, Bone reports.

Turkish Ectodermal Dysplasia Cohort: From Phenotype to Genotype in 17 Families

A. Smahi, C. Bodemer, H. Kayserili, 2019, Cytogenetic and Genome Research.

Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome

R. Hennekam, E. Jabs, J. Hurst, 2009, Journal of Medical Genetics.

Cystic Fibrosis Mutation and Associated Haplotypes in Turkish Cystic Fibrosis Patients

L. Tsui, J. Zieleński, B. Kirdar, 2001, Human biology.

Analysis of the CFTR gene in Turkish cystic fibrosis patients: identification of three novel mutations (3172delAC, P1013L and M1028I)

L. Tsui, J. Zieleński, B. Kirdar, 1998, Human Genetics.

Variants affecting diverse domains of MEPE are associated with two distinct bone disorders, a craniofacial bone defect and otosclerosis

A. Hoischen, C. Cremers, H. Kremer, 2018, Genetics in Medicine.

Sclerosteosis (craniotubular hyperostosis-syndactyly) with complex hyperphalangy of the index finger

H. Kayserili, G. Nishimura, Y. Hasegawa, 2015, Pediatric Radiology.

“Homozygous, and compound heterozygous mutation in 3 Turkish family with Jervell and Lange-Nielsen syndrome: case reports”

H. Kayserili, S. Temel, G. Toksoy, 2017, BMC Medical Genetics.

Multiple supernumerary molars, anterior openbite, and large ear lobules in mucopolysaccharidosis type VI patient

H. Kayserili, P. Kantaputra, 2012, American journal of medical genetics. Part A.

Molecular analyses of the HGO gene mutations in Turkish alkaptonuria patients suggest that the R58fs mutation originated from Central Asia and was spread throughout Europe and Anatolia by human migrations

H. Kayserili, B. Wollnik, K. Çefle, 2003, Journal of Inherited Metabolic Disease.

A novel c.1255G>T (p.D419Y) mutation in SH3BP2 gene causes cherubism in a Turkish family.

H. Kayserili, O. Uyguner, O. Aktoren, 2012, Oral surgery, oral medicine, oral pathology and oral radiology.

Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases

H. Kayserili, H. Koseki, S. Ikegawa, 2009, Journal of Medical Genetics.

Enamel–Renal–Gingival syndrome, hypodontia, and a novel FAM20A mutation

H. Kayserili, A. Ohazama, P. Kantaputra, 2014, American journal of medical genetics. Part A.

Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration

Kiely N. James, Martin W. Breuss, A. Caglayan, 2018, Nature Genetics.

Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia

A. Munnich, H. Kayserili, A. Verloes, 2018, European Journal of Human Genetics.

Effects of training set dimension on recognition of dysmorphic faces with statistical classifiers

Osman Erogul, Necmi Taspinar, Safak Saraydemir, 2015, Int. Arab J. Inf. Technol..

Down Syndrome Diagnosis Based on Gabor Wavelet Transform

Osman Erogul, Necmi Taspinar, Safak Saraydemir, 2012, Journal of Medical Systems.

Screening of Deletions in SMN, NAIP and BTF2p44 Genes in Turkish Spinal Muscular Atrophy Patients

B. Kirdar, H. Kayserili, S. Savas, 2000, Human Heredity.

A Progeroid Syndrome Caused by RAF1 deficiency Underscores the importance of RTK signaling for Human Development

H. Kayserili, B. Reversade, A. Loh, 2022, medRxiv.

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.

Zoledronate-responsive calcitriol-mediated hypercalcemia in a 5-year-old case with squamous cell carcinoma on the background of xeroderma pigmentosum

H. Kayserili, Ş. Hatun, G. Mutlu, 2019, Journal of pediatric endocrinology & metabolism : JPEM.

Novel DDR2 mutation identified by whole exome sequencing in a Moroccan patient with spondylo‐meta‐epiphyseal dysplasia, short limb‐abnormal calcification type

H. Kayserili, N. Matsumoto, N. Miyake, 2016, American journal of medical genetics. Part A.

DPP9 deficiency: an inflammasomopathy which can be rescued by lowering NLRP1/IL-1 signaling

J. Casanova, H. Kayserili, J. Bernstein, 2021, medRxiv.

Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome

M. Tekin, S. Thiel, H. Kayserili, 2015, Orphanet Journal of Rare Diseases.

Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome

D. Wieczorek, H. Kayserili, D. Goudie, 2013, Human Genetics.

Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen storage-associated mitochondriopathy.

Fernanda L. Sirota, J. Lupski, J. Casanova, 2021, American journal of human genetics.

A loss-of-function NUAK2 mutation in humans causes anencephaly due to impaired Hippo-YAP signaling

B. Venkatesh, N. Navaratnam, H. Kayserili, 2020, The Journal of experimental medicine.

Candidate locus analysis for PHACE syndrome

H. Kayserili, P. Bayrak-Toydemir, D. Stevenson, 2012, American journal of medical genetics. Part A.

MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome)

Kiely N. James, P. Bauer, A. Caglayan, 2018, Journal of Medical Genetics.

Points to consider for prioritizing clinical genetic testing services: a European consensus process oriented at accountability for reasonableness

Pascal Borry, Heidi C Howard, Jörg Schmidtke, 2014, European Journal of Human Genetics.

Cohesin complex-associated holoprosencephaly.

David R. Murdock, R. Poot, R. Louie, 2019, Brain : a journal of neurology.

AJHG The American Journal of Human Genetics

M. Fornerod, A. Afenjar, R. Person, 2019 .

Glycine to tryptophan substitution in type I collagen in a patient with OI type III: a unique collagen mutation

H. Kayserili, A. De Paepe, L. Nuytinck, 2000, Journal of medical genetics.

A Micropatterned Human‐Specific Neuroepithelial Tissue for Modeling Gene and Drug‐Induced Neurodevelopmental Defects

Y. Toh, H. Kayserili, K. H. Utami, 2021, Advancement of science.

A New Family with a Novel OTUD6B Mutation: Practicing Whole Exome Sequencing for Antenatal Diagnosis of Tetralogy of Fallot

H. Kayserili, U. Altunoğlu, S. Eraslan, 2022, Molecular Syndromology.

A patient with a de-novo deletion 3p25.3 and features overlapping with Rubinstein-Taybi syndrome.

D. Wieczorek, H. Kayserili, B. Albrecht, 2014, Clinical dysmorphology.

Seckel syndrome: report of a case.

H. Kayserili, F. Seymen, B. Tuna, 2002, The Journal of clinical pediatric dentistry.

CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays.

Hyungwon Choi, Paul Roschger, Klaus Klaushofer, 2017, American journal of human genetics.

Mutations in CDK5RAP2 cause Seckel syndrome

H. Kayserili, G. Nürnberg, P. Nürnberg, 2015, Molecular genetics & genomic medicine.

Pallister-Killian syndrome: clinical, cytogenetic and molecular findings in 15 cases

H. Kayserili, G. Toksoy, U. Altunoğlu, 2018, Molecular Cytogenetics.

Terminal osseous dysplasia with pigmentary defects (TODPD) in a Turkish girl with new skin findings

H. Kayserili, C. Demirkesen, S. Eraslan, 2019, American journal of medical genetics. Part A.

[A case of Hennekam syndrome presenting with massive pericardial effusion].

H. Kayserili, K. Nişli, Naci Oner, 2008, Turk Kardiyoloji Dernegi arsivi : Turk Kardiyoloji Derneginin yayin organidir.

OTX2 mutations contribute to the otocephaly-dysgnathia complex

C. Mercer, E. Jabs, N. Katsanis, 2012, Journal of Medical Genetics.

RAF1 deficiency causes a lethal syndrome that underscores RTK signaling during embryogenesis

H. Kayserili, E. Özkan, Hane Lee, 2023, EMBO molecular medicine.

Ataxia with vitamin E deficiency associated with deafness.

H. Kayserili, B. Kara, R. Rosti, 2008, The Turkish journal of pediatrics.

Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity

Yair Anikster, H. Kayserili, Y. Anikster, 2017, Human mutation.

Clinical features of generalized lipodystrophy in Turkey: A cohort analysis

H. Kayserili, C. Vigouroux, B. Tuysuz, 2023, Diabetes, obesity & metabolism.

Haploinsufficiency of TBX3 causes ulnar-mammary syndrome in a large Turkish family.

H. Kayserili, B. Wollnik, T. Tukel, 2002, Annales de genetique.

Corrigendum: TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport

Gail Clement, Jie Huang, Inês Barroso, 2016, Nature Communications.

A novel shoulder disability staging system for scapulothoracic arthrodesis in patients with facioscapulohumeral dystrophy.

H. Kayserili, M. Demirhan, S. Eraslan, 2020, Orthopaedics & traumatology, surgery & research : OTSR.

Recontacting or not recontacting? A survey of current practices in clinical genetics centres in Europe

A. Clarke, H. Kayserili, B. Melegh, 2018, European Journal of Human Genetics.

Fanconi anemia A due to a novel frameshift mutation in hotspot motifs: Lack of FANCA protein

H. Kayserili, H. Joenje, J. D. de Winter, 2000, Human Mutation.

Etiologic evaluation in 247 children with global developmental delay at Istanbul, Turkey.

B. Tatlı, H. Kayserili, M. Çalışkan, 2005, Journal of tropical pediatrics.

Mutations in the lipoma HMGIC fusion partner‐like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss

C. Cremers, T. Strom, A. D. den Hollander, 2006, Human mutation.

Recontacting patients in clinical genetics services: recommendations of the European Society of Human Genetics

N. Hawkins, A. Clarke, H. Kayserili, 2018, European Journal of Human Genetics.

Novel indel Mutation in the GDF5 Gene Is Associated with Brachydactyly Type C in a Four-Generation Turkish Family

H. Kayserili, G. Toksoy, M. Kocaoglu, 2014, Molecular Syndromology.

Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome

D. Kelsell, H. Kayserili, I. Leigh, 2005, Journal of Medical Genetics.

Prenatal ultrasonographic diagnosis of generalized arterial calcification of infancy

H. Kayserili, M. Gulluoglu, R. Has, 2014, Journal of clinical ultrasound : JCU.

Nance-Horan Syndrome: characterization of dental, clinical and molecular features in three new families

H. Kayserili, U. Altunoğlu, S. Eraslan, 2023, BMC Oral Health.

and Anne De mutation in a patient with OI type III : a unique collagen Glycine to tryptophan substitution in type I collagen

H. Kayserili, A. Paepe, L. Nuytinck, 1999 .

TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport

Tom R. Gaunt, Thomas M. Keane, Colin A. Johnson, 2015, Nature Communications.

A rare mutation [IVS-I-130 (G-A)] in a Turkish beta-thalassemia major patient.

S. Kantarci, H. Kayserili, G. Tadmouri, 2000, American journal of hematology.

Characteristic calcaneal ossification: an additional early radiographic finding in infants with fibrodysplasia ossificans progressiva

E. Zackai, H. Kayserili, N. Haga, 2016, Pediatric Radiology.

Evaluation of Clinical Manifestations in Patients with Severe Lymphedema with and without CCBE1 Mutations

R. Hennekam, D. Lev, M. Vikkula, 2012, Molecular Syndromology.

The genetic basis of DOORS syndrome: an exome-sequencing study

Jonathan E. Dickerson, J. Wiszniewska, S. Cheung, 2013 .

RPGRIP1L mutations are mainly associated with the cerebello‐renal phenotype of Joubert syndrome‐related disorders

T. Sanger, E. Bertini, M. Koenig, 2008, Clinical genetics.

TCTEX1D2 mutations underlie Jeune asphyxiating thoracic TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport dystrophy with impaired retrograde intraflagellar transport

Colin A. Johnson, P. Scambler, S. Letteboer, 2021 .

DOCK6 Mutations Are Responsible for a Distinct Autosomal‐Recessive Variant of Adams–Oliver Syndrome Associated with Brain and Eye Anomalies

M. Skalej, S. Mundlos, B. Tüysüz, 2015, Human mutation.

Revisiting TOP2B‐related phenotypes: Three new cases and literature review

H. Kayserili, Esra Börklü, Ece Çepni, 2023, Clinical genetics.

RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6

H. Kayserili, N. Barker, C. Bénéteau, 2018, Nature.

Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debré type

S. Mundlos, H. Kayserili, W. Dobyns, 2008, Neurology.

A severe collodion phenotype in the newborn period associated with a homozygous missense mutation in ALOX12B

D. Kelsell, V. Plagnol, H. Kayserili, 2015, The British journal of dermatology.

A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome

S. Nelson, B. Venkatesh, R. Hegele, 2016, Cilia.

Kabuki make-up syndrome with unilateral renal agenesis.

H. Kayserili, R. Rosti, 2009, The Turkish journal of pediatrics.

Skull defects, alopecia, hypertelorism, and notched alae nasi caused by homozygous ALX4 gene mutation

H. Kayserili, A. Kariminejad, G. Toksoy, 2014, American journal of medical genetics. Part A.

Supplementary webappendix

Jonathan E. Dickerson, K. Kyriacou, R. Hennekam, 2010 .

Supplementary webappendix

Jonathan E. Dickerson, K. Kyriacou, R. Hennekam, 2013 .

Effect modification by population dietary folate on the association between MTHFR genotype, homocysteine, and stroke risk: a meta-analysis of genetic studies and randomised trials

Jonathan E. Dickerson, R. Collins, M. Nalls, 2011, The Lancet.

DPP9 deficiency: An inflammasomopathy that can be rescued by lowering NLRP1/IL-1 signaling

H. Kayserili, B. Boisson, H. Tamary, 2022, Science Immunology.

C5orf42 is the major gene responsible for OFD syndrome type VI

H. Kayserili, J. Rivière, D. Lacombe, 2013, 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.

De novo WNT5A‐associated autosomal dominant Robinow syndrome suggests specificity of genotype and phenotype

H. Kayserili, H. Venselaar, H. Yntema, 2015, Clinical genetics.

Supplementary Webappendix

Jonathan E. Dickerson, L. Holmberg, R. Hennekam, 2022 .

CEP152 is a genome maintenance protein disrupted in Seckel syndrome

Martin S. Taylor, J. Aerts, M. Hurles, 2011, Nature Genetics.

Distinguishing 3 classes of corpus callosal abnormalities in consanguineous families

C. Truwit, N. Chuang, H. Kayserili, 2011, Neurology.

Mutations in BCKD-kinase Lead to a Potentially Treatable Form of Autism with Epilepsy

Stephan J Sanders, Robert A. Harris, S. Gabriel, 2012, Science.

Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes

T. Mazza, H. Van Esch, H. Kayserili, 2016, Journal of Medical Genetics.

Supplementary webappendix

Jonathan E. Dickerson, V. Beral, R. Hennekam, 2018 .

CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays.

Hyungwon Choi, B. Venkatesh, H. Kayserili, 2017, American journal of human genetics.

Loss of C2orf69 defines a fatal auto-inflammatory mitochondriopathy in Humans and Zebrafish

Fernanda L. Sirota, J. Lupski, J. Casanova, 2021, medRxiv.

Clinical manifestations of 17 patients affected with mucopolysaccharidosis type VI and eight novel ARSB mutations

H. Kayserili, P. Tanpaiboon, A. Dalal, 2014, American journal of medical genetics. Part A.

Variants in members of the cadherin–catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome

R. Hennekam, H. Kayserili, P. Lapunzina, 2018, European Journal of Human Genetics.

Variants affecting diverse domains of MEPE are associated with two distinct bone disorders, a craniofacial bone defect and otosclerosis

A. Hoischen, C. Cremers, H. Kremer, 2018, Genetics in Medicine.

Clinical and Radiographic Features of the Autosomal Recessive form of Brachyolmia Caused by PAPSS2 Mutations

H. Kayserili, H. Ohashi, S. Ikegawa, 2013, Human mutation.

17Beta-hydroxysteroid dehydrogenase-3 deficiency: diagnosis, phenotypic variability, population genetics, and worldwide distribution of ancient and de novo mutations.

H. Kayserili, L. Sandkuijl, B. Mendonca, 1999, The Journal of clinical endocrinology and metabolism.

Trichothiodystrophy‐associated MPLKIP maintains DBR1 levels for proper lariat debranching and ectodermal differentiation

H. Kayserili, J. Pothof, A. Raams, 2023, EMBO molecular medicine.

DOCK6 Mutations Are Responsible for a Distinct Autosomal‐Recessive Variant of Adams–Oliver Syndrome Associated with Brain and Eye Anomalies

M. Skalej, B. Tüysüz, H. Kayserili, 2015, Human mutation.

Association of Antenatal Evaluations with Postmortem and Genetic Findings in the Series of Fetal Osteogenesis Imperfecta

H. Kayserili, G. Yigit, B. Tuysuz, 2024, Fetal Diagnosis and Therapy.

Mild nasal malformations and parietal foramina caused by homozygous ALX4 mutations

H. Kayserili, U. Altunoğlu, Z. Uyguner, 2012, American Journal of Medical Genetics. Part A.

Local organizing committee

Peter Buxmann, J. West, K. Lyytinen, 2009, 2009 National Radio Science Conference.

Mutation spectrum of 260 dystrophinopathy patients from Turkey and important highlights for genetic counseling

H. Kayserili, Y. Parman, H. Topaloglu, 2019, Neuromuscular Disorders.

Harlequin ichthyosis: a review of clinical and molecular findings in 45 cases.

D. Kelsell, H. Kayserili, C. Mein, 2011, Archives of dermatology.

CYP21A2 Gene Mutations in Congenital Adrenal Hyperplasia: Genotype−phenotype correlation in Turkish children

H. Kayserili, F. Baş, F. Darendeliler, 2009, Journal of clinical research in pediatric endocrinology.