J. Cobben

G. Pals, P. Nikkels, R. V. van Rijn, 2011, Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.

Linkage mapping of the spinal muscular atrophy gene

J. Carpten, Z. Kote-Jarai, J. Mendell, 1994, Human Genetics.

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.

Clinical utility gene card for: Proximal spinal muscular atrophy (SMA) – update 2015

K. Zerres, S. Rudnik-Schöneborn, T. Eggermann, 2015, European Journal of Human Genetics.

Clinical utility gene card for: proximal spinal muscular atrophy

K. Zerres, S. Rudnik-Schöneborn, T. Eggermann, 2012, European Journal of Human Genetics.

Congenital heart defects in spinal muscular atrophy type I: A clinical report of two siblings and a review of the literature

B. Poll-The, A. C. van der Wal, L. Menke, 2008, American journal of medical genetics. Part A.

SMN2 deletion in childhood-onset spinal muscular atrophy.

M. de Visser, J. Cobben, 2001, American journal of medical genetics.

Best practice guidelines for molecular analysis in spinal muscular atrophy

B. Wirth, G. Matthijs, H. Scheffer, 2001, European Journal of Human Genetics.

Homozygous Type IX collagen variants (COL9A1, COL9A2, and COL9A3) causing recessive Stickler syndrome—Expanding the phenotype

P. Bearcroft, P. Alexander, J. Cobben, 2019, American journal of medical genetics. Part A.

Survival in SMA type I: A prospective analysis of 34 consecutive cases

I. Snoeck, J. Cobben, M. Visser, 2008, Neuromuscular Disorders.

Ehlers Danlos syndrome, kyphoscoliotic type due to Lysyl Hydroxylase 1 deficiency in two children without congenital or early onset kyphoscoliosis.

G. Mancini, J. Cobben, F. V. van Dijk, 2017, European journal of medical genetics.

NGS panel analysis in 24 ectopia lentis patients; a clinically relevant test with a high diagnostic yield.

M. Kempers, V. Verhoeven, J. M. van de Kamp, 2017, European journal of medical genetics.

Three novel SALL1 mutations extend the mutational spectrum in Townes-Brocks syndrome

W. Engel, M. Patel, A. Bottani, 1999, Journal of medical genetics.

Clinical Report Congenital Heart Defects in Spinal Muscular Atrophy Type I: A Clinical Report of Two Siblings and a Review of the Literature

B. Poll-The, A. Wal, L. Menke, 2008 .

Apparent gene conversions involving the SMN gene in the region of the spinal muscular atrophy locus on chromosome 5.

J. D. den Dunnen, H. Scheffer, C. Brahe, 1996, American journal of human genetics.

Dysmorphic features in 2-year-old IVF/ICSI offspring.

M. Hadders‐Algra, A. Bos, M. Heineman, 2012, Early human development.

Morphologic abnormalities in 2-year-old children born after in vitro fertilization/intracytoplasmic sperm injection with preimplantation genetic screening: follow-up of a randomized controlled trial.

J. H. van der Lee, M. Hadders‐Algra, A. Bos, 2013, Fertility and sterility.

Congenital hepatic fibrosis in autosomal-dominant polycystic kidney disease.

K. Zerres, M. Breuning, J. Cobben, 1990, Kidney international.

SHORT syndrome with microcephaly and developmental delay

J. Cobben, Wei Cui, V. Patel, 2022, American journal of medical genetics. Part A.

Coenzyme Q10 deficiency due to a COQ4 gene defect causes childhood-onset spinocerebellar ataxia and stroke-like episodes

R. Rodenburg, E. Kamsteeg, J. Cobben, 2018, Molecular genetics and metabolism reports.

[Osteogenesis imperfecta: clinical and genetic heterogeneity].

G. Pals, P. Nikkels, R. V. van Rijn, 2012, Nederlands tijdschrift voor geneeskunde.

Complete COL1A1 allele deletions in osteogenesis imperfecta

G. Pals, H. Meijers-Heijboer, A. Plomp, 2010, Genetics in Medicine.

Infantile hypophosphatasia without bone deformities presenting with severe pyridoxine-resistant seizures.

M. Durán, B. Poll-The, C. Majoie, 2014, Molecular genetics and metabolism.

Long-term follow-up after bilateral Artisan aphakia intraocular lens implantation in two children with Marfan syndrome.

H. Völker‐Dieben, J. Cobben, Liesbeth Prick, 2012, Journal of AAPOS.

Characterization of the split hand/split foot malformation locus SHFM1 at 7q21.3-q22.1 and analysis of a candidate gene for its expression during limb development.

S. Scherer, L. Tsui, J. Rommens, 1996, Human molecular genetics.

Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders

Lisa T. Emrick, Michael F. Wangler, J. Rosenfeld, 2019, Nature Communications.

Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia‐telangiectasia: A genotype–phenotype study

A. Broeks, N. Wulffraat, C. Catsman-Berrevoets, 2012, Human mutation.

Normal values for morphological abnormalities in school children

R. Hennekam, F. V. van Leeuwen, J. Cobben, 2006, American journal of medical genetics. Part A.

De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

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

Genotype-phenotype correlation at codon 1740 of SETD2.

A. Radmanesh, I. Glass, J. Hurst, 2020, American journal of medical genetics. Part A.

Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability.

J. Lupski, D. Muzny, S. Jhangiani, 2016, American journal of human genetics.

A boy with Poland anomaly and facio‐auriculo‐vertebral dysplasia

J. Cobben, P. Mcparland, L. P. Kate, 1992, Clinical genetics.

PRENATAL DIAGNOSIS OF CYSTIC FIBROSIS WHERE SINGLE AFFECTED CHILD HAS DIED

D. Halley, J. Cobben, T. Essen, 1988, The Lancet.

M. Adank, B. Wolffenbuttel, J. Oosterwijk, 2017, The Journal of clinical endocrinology and metabolism.

Down syndrome: a cardiovascular perspective.

B. Mulder, M. Weijerman, J. Cobben, 2009, Journal of intellectual disability research : JIDR.

DNA methylation abundantly associates with fetal alcohol spectrum disorder and its subphenotypes.

J. Nikliński, R. Śmigiel, M. Mannens, 2019, Epigenomics.

Diagnostic outcomes of 27 children referred by pediatricians to a genetics clinic in the Netherlands with suspicion of fetal alcohol spectrum disorders

R. Hennekam, J. Cobben, C. Schrander‐Stumpel, 2013, American journal of medical genetics. Part A.

Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome.

R. Hennekam, A. Latos-Bieleńska, A. Shaw, 2015, European journal of medical genetics.

Opposite effects on facial morphology due to gene dosage sensitivity

R. Hennekam, M. Tassabehji, P. Hammond, 2014, Human Genetics.

PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature

Sahar Mansour, Dierk Niessing, James J Dowling, 2017, Journal of Medical Genetics.

Beare-Stevenson syndrome: two Dutch patients with cerebral abnormalities.

M. Lequin, D. Barge-Schaapveld, J. Cobben, 2011, Pediatric neurology.

De novo and biallelic DEAF1 variants cause a phenotypic spectrum

H. Mefford, J. Graham, T. Pierson, 2019, Genetics in Medicine.

Can hair be used to screen for breast cancer?

A. Bottani, S. Bordin, J. P. Vasconcellos, 2000, Journal of medical genetics.

Deletions of the survival motor neuron gene in unaffected siblings of patients with spinal muscular atrophy.

H. Scheffer, C. Buys, M. de Visser, 1995, American journal of human genetics.

Solitary median maxillary central incisor and congenital nasal pyriform aperture stenosis combined with asymmetric crying facies and postaxial lower limb reduction defects: a unique combination of features.

J. Cobben, H. V. van Thuijl, F. V. van Dijk, 2011, European journal of medical genetics.

Etiology and pathogenesis of robin sequence in a large Dutch cohort

R. Hennekam, H. Basart, K. Lichtenbelt, 2015, American journal of medical genetics. Part A.

DNA analysis of AHI1, NPHP1 and CYCLIN D1 in Joubert syndrome patients from the Netherlands.

M. Nelen, R. Sinke, D. Lindhout, 2008, European journal of medical genetics.

A novel homozygous 5 bp deletion in FKBP10 causes clinically Bruck syndrome in an Indonesian patient.

G. Pals, E. Sistermans, J. Cobben, 2012, European journal of medical genetics.

Compound-heterozygous Marfan syndrome.

G. Pals, J. Timmermans, B. Mulder, 2009, European journal of medical genetics.

De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females

J. Rosenfeld, M. Shaw, E. Haan, 2016, Molecular Psychiatry.

Pfeiffer syndrome type 2: further delineation and review of the literature.

J. Fryns, A. Verloes, A. Plomp, 1998, American journal of medical genetics.

Linkage and apparent heterogeneity in proximal spinal muscular atrophies

G. V. Ommen, J. Osinga, H. Scheffer, 1993, Neuromuscular Disorders.

Poland anomaly in mother and daughter.

A. V. van Essen, J. Cobben, L. T. ten Kate, 1989, American journal of medical genetics.

Pontine tegmental cap dysplasia: a novel brain malformation with a defect in axonal guidance.

F. Baas, M. Caan, C. Majoie, 2007, Brain : a journal of neurology.

Preimplantation genetic diagnosis of spinal muscular atrophy.

C. D. de Die-Smulders, H. Smeets, J. Dumoulin, 1998, Molecular human reproduction.

SMN gene deletion in variant of infantile spinal muscular atrophy

A. Munnich, J. Melki, S. Lefebvre, 1995, The Lancet.

Renal defects and limb deficiencies in 197 infants: Is it possible to define the “acrorenal syndrome”?

C. Stoll, A. Rosano, P. Mastroiacovo, 2004, American journal of medical genetics. Part A.

Bilateral split hand/foot malformation and inv(7)(p22q21.3).

W. Eisma, S. Castedo, B. Leegte, 1995, Journal of medical genetics.

Br ? ief papers Bilateral split hand / foot malformation and inv ( 7 ) ( p 22 q 2 1 . 3 )

W. Eisma, S. Castedo, J. Cobben, 2022 .

Ectrodactyly with fibular aplasia: a separate entity?

E. Bijlsma, L. Menke, A. V. van Essen, 2008, European journal of medical genetics.

Deficient knowledge of genetics relevant for daily practice among medical students nearing graduation

Lidewij Henneman, R. Hennekam, F. Beemer, 2005, Genetics in Medicine.

The clinical spectrum of complete FBN1 allele deletions

G. Pals, J. Timmermans, H. Moll, 2011, European Journal of Human Genetics.

Osteogenesis imperfecta, normal collagen folding, and lack of cyclophilin B.

G. Pals, J. Cobben, F. V. van Dijk, 2010, New England Journal of Medicine.

Trisomy 4 mosaicism: Delineation of the phenotype

Arjan Bouman, J. Cobben, F. Vansenne, 2016, American Journal of Medical Genetics. Part A.

A sublocus of the multicopy microsatellite marker CMS1 maps proximal to spinal muscular atrophy (SMA) as shown by recombinant analysis

J. Osinga, G. Ommen, H. Scheffer, 1995, Human Genetics.

Prevalence of lethal osteochondrodysplasias.

M. Cornel, J. Cobben, L. T. ten Kate, 1990, American journal of medical genetics.

Johanson–Blizzard syndrome caused by identical UBR1 mutations in two unrelated girls, one with a cardiomyopathy

J. Ottenkamp, A. Kariminejad, M. Zenker, 2008, American journal of medical genetics. Part A.

Mutations in the Human UBR1 Gene and the Associated Phenotypic Spectrum

F. Alkuraya, J. Mayerle, M. Lerch, 2014, Human mutation.

Northern epilepsy syndrome: an inherited childhood onset epilepsy with associated mental deterioration.

J. J. Shepherd, D. Sillence, L. Mestroni, 1994, Journal of medical genetics.

Expression Quantitative Trait Methylation Analysis Identifies Whole Blood Molecular Footprint in Fetal Alcohol Spectrum Disorder (FASD)

J. Nikliński, R. Śmigiel, M. Mannens, 2023, International journal of molecular sciences.

Homozygous deletion of the survival motor neuron 2 gene is a prognostic factor in sporadic ALS

F. Baas, L. H. van den Berg, J. Veldink, 2001, Neurology.

Aggressive cardiovascular phenotype of aneurysms-osteoarthritis syndrome caused by pathogenic SMAD3 variants.

J. Timmermans, F. Mattace-Raso, J. Roos‐Hesselink, 2012, Journal of the American College of Cardiology.

Two unbalanced segregation products due to a maternal t(7;16)inv(16)

R. Hordijk, B. Leegte, J. Cobben, 2001, Prenatal diagnosis.

Complete and partial XYLT1 deletion in a patient with neonatal short limb skeletal dysplasia

H. Knoester, S. van Koningsbruggen, O. Mook, 2016, American journal of medical genetics. Part A.

The popliteal pterygium syndrome: an analysis of two families.

J. Cobben, J. Gardeniers, P. Spauwen, 1994, Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery.

Aggressive cardiovascular phenotype of aneurysms-osteoarthritis syndrome caused by pathogenic SMAD3 variants.

J. Timmermans, F. Mattace-Raso, J. Roos‐Hesselink, 2012, Journal of the American College of Cardiology.

On the many faces of Leber hereditary optic neuropathy

J. Cobben, E. Bleeker-Wagemakers, R. Oostra, 1997, Clinical genetics.

Long-term follow-up after bilateral Artisan aphakia intraocular lens implantation in two children with Marfan syndrome.

H. Völker‐Dieben, J. Cobben, Liesbeth Prick, 2012, Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus.

Mutations in the Human UBR1 Gene and the Associated Phenotypic Spectrum

F. Alkuraya, J. Mayerle, M. Lerch, 2014, Human mutation.

When the right (Drug) should be left: Prenatal drug exposure and heterotaxy syndrome.

J. Cobben, R. Oostra, J. Bergman, 2016, Birth defects research. Clinical and molecular teratology.