E. Bijlsma

发表

De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila

L. Vissers, J. Schuurs-Hoeijmakers, A. Hoischen, 2016, European Journal of Human Genetics.

Array-CGH detection of micro rearrangements in mentally retarded individuals: clinical significance of imbalances present both in affected children and normal parents

N. Carter, H. Fiegler, H. Tanke, 2005, Journal of Medical Genetics.

A G-->A transition creates a branch point sequence and activation of a cryptic exon, resulting in the hereditary disorder neurofibromatosis 2.

P. Riegman, E. Zwarthoff, C. Avezaat, 1998, Human molecular genetics.

Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1

Mohamed G. Hassan, P. Kwok, S. Baranzini, 2011, Journal of Medical Genetics.

The location of constitutional neurofibromatosis 2 (NF2) splice site mutations is associated with the severity of NF2

D. Evans, C. Lázaro, G. Rouleau, 2005, Journal of Medical Genetics.

Ping-Yee B Au, D. Lessel, J. Denecke, 2021, neurogenetics.

Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome).

Juliane Hoyer, Alexander Dreweke, Alfredo Orrico, 2007, American journal of human genetics.

De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder

Michael F. Wangler, R. Pfundt, G. Cooper, 2018, Human Genetics.

Mutations in the nebulin gene can cause severe congenital nemaline myopathy

K. Pelin, K. Bushby, C. Wallgren‐Pettersson, 2002, Neuromuscular Disorders.

Lysosomal storage diseases in non-immune hydrops fetalis pregnancies.

A. Smits, R. Wevers, A. Kooper, 2006, Clinica chimica acta; international journal of clinical chemistry.

Genetic heterogeneity in erythrokeratodermia variabilis: novel mutations in the connexin gene GJB4 (Cx30.3) and genotype-phenotype correlations.

S. Bale, J. Uitto, G. Richard, 2003, The Journal of investigative dermatology.

Complex genetics of radial ray deficiencies: screening of a cohort of 54 patients

G. Mortier, B. Menten, E. Klopocki, 2012, Genetics in Medicine.

Phenotype and natural history in 101 individuals with Pitt-Hopkins syndrome through an internet questionnaire system

R. Hennekam, C. F. de Winter, E. Bijlsma, 2016, Orphanet Journal of Rare Diseases.

Misleading linkage results in an NF2 presymptomatic test owing to mosaicism.

D. Evans, E. Bijlsma, A. Wallace, 1997, Journal of medical genetics.

Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome

M. Koch, S. Q. Mehdi, J. Mandel, 2012, European Journal of Human Genetics.

Extending the phenotype of recurrent rearrangements of 16p11.2: deletions in mentally retarded patients without autism and in normal individuals.

J. Schuurs-Hoeijmakers, R. Pfundt, P. Lapunzina, 2009, European journal of medical genetics.

Expanding the HPSE2 Genotypic Spectrum in Urofacial Syndrome, A Disease Featuring a Peripheral Neuropathy of the Urinary Bladder

E. A. McKenzie, W. Newman, W. Yue, 2022, Frontiers in Genetics.

Further delineation of phenotypic spectrum of SCN2A‐related disorder

D. Baralle, J. Clayton-Smith, C. Ruivenkamp, 2021, American journal of medical genetics. Part A.

Familial cryptic translocation between chromosomes 2qter and 8qter: further delineation of the Albright hereditary osteodystrophy-like phenotype

R. Hennekam, R. Trembath, E. Bijlsma, 1999, Journal of medical genetics.

Screening for germ‐line mutations in the NF2 Gene

K. Hoang-Xuan, G. Thomas, M. Sanson, 1995, Genes, chromosomes & cancer.

Predominant occurrence of somatic mutations of the NF2 gene in meningiomas and schwannomas

X. Estivill, K. Hoang-Xuan, G. Thomas, 1995, Genes, chromosomes & cancer.

Increased nuchal translucency and split‐hand/foot malformation in a fetus with an interstitial deletion of chromosome 2q that removes the SHFM5 locus

E. Bijlsma, C. Bilardo, F. Goodman, 2005, Prenatal diagnosis.

Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging.

E. Bertini, M. Karayiorgou, S. Lalani, 2019, American journal of human genetics.

Delineating the GRIN1 phenotypic spectrum A distinct genetic NMDA receptor encephalopathy

D. Misceo, J. Hentschel, V. Narayanan, 2022 .

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.

Frequency of the loss of CAA interruption in the HTT CAG tract and implications for Huntington disease in the reduced penetrance range

M. Hayden, J. Collins, G. Wright, 2020, Genetics in Medicine.

Further delineation of the phenotype of chromosome 14q13 deletions: (positional) involvement of FOXG1 appears the main determinant of phenotype severity, with no evidence for a holoprosencephaly locus

K. Devriendt, M. Polak, A. Haeringen, 2012, Journal of Medical Genetics.

Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsies

I. Harting, M. Parker, A. van Haeringen, 2021, European Journal of Human Genetics.

Reply: Late onset Huntington's disease with 29 CAG repeat expansion

R. Roos, E. Bijlsma, M. Oosterloo, 2016, Journal of the Neurological Sciences.

Molecular characterization of chromosome 22 deletions in schwannomas

E. Bijlsma, A. Westerveld, D. Bosch, 1992, Genes, Chromosomes and Cancer.

Molecular analysis of genetic changes in ependymomas

G. Thomas, D. Troost, E. Bijlsma, 1995, Genes, chromosomes & cancer.

Prenatal exome sequencing: A useful tool for the fetal neurologist

E. Bijlsma, E. Verweij, E. Nibbeling, 2021, Clinical genetics.

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.

CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila.

Annette Schenck, Arif B Ekici, André Reis, 2009, American journal of human genetics.

A 797 kb de novo deletion of 18q21.31 in a patient with speech delay, mental retardation, sleeping problems, facial dysmorphism, and feet anomalies.

C. Ruivenkamp, E. Bijlsma, A. Gijsbers, 2011, European journal of medical genetics.

The effects of an online decision aid to support the reproductive decision‐making process of genetically at risk couples—A pilot study

H. de Vries, L. V. van Osch, K. Stuurman, 2022, Journal of genetic counseling.

Mosaicism in a patient with Down syndrome reveals post‐fertilization formation of a robertsonian translocation and isochromosome

L. Shaffer, E. Bijlsma, S. A. Berend, 2003, American journal of medical genetics. Part A.

Nablus mask‐like facial syndrome: Deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotype

B. V. van Bon, J. Allanson, S. Aradhya, 2012, American journal of medical genetics. Part A.

Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration

Karin, A. Need, M. Kayikci, 2022, medRxiv.

Analysis of mutations in the SCH gene in schwannomas

G. Thomas, O. Delattre, E. Bijlsma, 1994, Genes, chromosomes & cancer.

Increased nuchal translucency thickness: a marker for chromosomal and genetic disorders in both offspring and parents

E. Bijlsma, C. Bilardo, A. C. Knegt, 2005, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Putting genome-wide sequencing in neonates into perspective

A. Haeringen, D. Barge-Schaapveld, C. Ruivenkamp, 2018, Genetics in Medicine.

Is There Convincing Evidence that Intermediate Repeats in the HTT Gene Cause Huntington's Disease?

R. Roos, E. Bijlsma, M. V. van Belzen, 2015, Journal of Huntington's disease.

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

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

Novel SIL1 mutations and exclusion of functional candidate genes in Marinesco–Sjögren syndrome

L. Tranebjaerg, J. Goto, Y. Ichikawa, 2008, European Journal of Human Genetics.

Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader-Willi critical region, possibly associated with behavioural disturbances.

K. Kok, C. V. van Ravenswaaij-Arts, M. Breuning, 2009, European journal of medical genetics.

The clinical significance of small copy number variants in neurodevelopmental disorders

A. Ekici, D. Fitzpatrick, C. Thiel, 2014, Journal of Medical Genetics.

Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2

S. Pulst, K. Hoang-Xuan, G. Thomas, 1993, Nature.

Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression

H. Firth, A. Ekici, S. Holder, 2010, Human mutation.

Neurofibromatosis type 2 in an adolescent boy with polyneuropathy and a mutation in the NF2 gene

E. Bijlsma, P. Mérel, W. Overweg-Plandsoen, 1996, Journal of Neurology.

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.

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 .

Diagnosis and management in Pitt‐Hopkins syndrome: First international consensus statement

R. Hennekam, J. Clayton-Smith, C. Saunders, 2019, Clinical genetics.

Length of Uninterrupted CAG, Independent of Polyglutamine Size, Results in Increased Somatic Instability, Hastening Onset of Huntington Disease.

Brett Trost, Egor Dolzhenko, Michael A Eberle, 2019, American journal of human genetics.

Length of uninterrupted CAG repeats, independent of polyglutamine size, results in increased somatic instability and hastened age of onset in Huntington disease

Brett Trost, Michael R. Hayden, Egor Dolzhenko, 2019, bioRxiv.

AHDC1 missense mutations in Xia-Gibbs syndrome

Michael M. Khayat, Michael F. Wangler, J. Rosenfeld, 2021, HGG advances.

Delineating the GRIN1 phenotypic spectrum

D. Misceo, L. de Meirleir, J. Hentschel, 2016, Neurology.

Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signature

B. Dallapiccola, M. Tartaglia, V. Siu, 2020, Clinical epigenetics.

Additional cryptic CNVs in mentally retarded patients with apparently balanced karyotypes.

Osdilly Giromus, E. Bakker, C. Ruivenkamp, 2010, European journal of medical genetics.

A new diagnostic workflow for patients with mental retardation and/or multiple congenital abnormalities: test arrays first

J. Schuurs-Hoeijmakers, A. Haeringen, E. Bakker, 2009, European Journal of Human Genetics.

normal parents imbalances present both in affected children and of mentally retarded individuals: clinical significance Array-CGH detection of micro rearrangements in

N. Carter, H. Fiegler, W. Sloos, 2006 .

Amplification of the anonymous marker D17S67 in malignant astrocytomas

S. Leenstra, E. Bijlsma, A. Westerveld, 1994, Genes, chromosomes & cancer.

Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1

Reinhard Ullmann, Juliane Hoyer, Arif B Ekici, 2011, BMC Medical Genetics.

A rare occurrence of trisomy 18 and trisomy 21 in a dizygotic twin pregnancy

E. Bijlsma, H. Pelikan, W. Wijngaarden, 2007, Archives of Gynecology and Obstetrics.

Prospective screening for subtelomeric rearrangements in children with mental retardation of unknown aetiology: the Amsterdam experience

R. Hennekam, D. Smeets, C. V. van Karnebeek, 2002, Journal of medical genetics.

Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression

H. Firth, A. Ekici, S. Holder, 2010, Human mutation.

Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation

J. Crolla, A. Collins, B. Gener, 2012, European journal of medical genetics.

Two distinct regions in 2q24.2‐q24.3 associated with idiopathic epilepsy

P. Pearson, A. Vianna-Morgante, E. Bijlsma, 2010, Epilepsia.

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.

J. Schuurs-Hoeijmakers, M. Reijnders, H. Brunner, 2018, American journal of human genetics.

Equivalent missense variant in the FOXP2 and FOXP1 transcription factors causes distinct neurodevelopmental disorders

P. Deriziotis, S. Fisher, N. Matsumoto, 2017, Human mutation.

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

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

Further delineation of Pitt–Hopkins syndrome: phenotypic and genotypic description of 16 novel patients

J. Clayton-Smith, V. Ricotti, S. McKee, 2008, Journal of Medical Genetics.

Widening of the genetic and clinical spectrum of Lamb–Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency

Eric W. Klee, Ange-Line Bruel, Sophie Nambot, 2019, Genetics in Medicine.

Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities

A. V. Vulto-van Silfhout, D. Baralle, P. Striano, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Further delineation of Malan syndrome

R. Hennekam, C. Shaw-Smith, F. Alkuraya, 2018, Human mutation.

delineation of Malan syndrome.

R. Hennekam, C. Shaw-Smith, F. Alkuraya, 2018 .

De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsy

R. Pfundt, B. D. de Vries, C. Gilissen, 2019, Genetics in Medicine.

Neurofibromatosis type 2 diagnosed in the absence of vestibular schwannomas. A case report and guidelines for a screening protocol for children at risk

C. Majoie, E. Bijlsma, A. Janse, 2001, European Journal of Pediatrics.

Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome

R. Pfundt, D. Baralle, I. Thiffault, 2022, American journal of human genetics.

A 400 kb duplication , 2 . 4 Mb triplication and 130 kb duplication of 9 q 34 . 3 in a patient with severe mental retardation

E. Bakker, C. Ruivenkamp, M. Weiss, 2010 .

A 400kb duplication, 2.4Mb triplication and 130kb duplication of 9q34.3 in a patient with severe mental retardation.

E. Bakker, C. Ruivenkamp, M. Weiss, 2008, European journal of medical genetics.

Recurring HRAS mutation G12S in Dutch patients with Costello syndrome

M. Geel, E. Bijlsma, M. Vreeburg, 2006, Experimental dermatology.

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.

The Clinical Spectrum of Missense Mutations of the First Aspartic Acid of cbEGF-like Domains in Fibrillin-1 Including a Recessive Family

G. Pals, A. Scholte, B. Hamel, 2010, Human mutation.

Allele loss on chromosomes 10 and 17p and epidermal growth factor receptor gene amplification in human malignant astrocytoma related to prognosis.

S. Leenstra, D. Troost, E. Bijlsma, 1994, British Journal of Cancer.

Family with neurofibromatosis type 2 and autosomal dominant hearing loss: identification of carriers of the mutated NF2 gene

G. Thomas, C. J. Asperen, E. Bijlsma, 1995, Human Genetics.

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.

Regional fine mapping of the β crystallin genes on chromosome 22 excludes these genes as physically linked markers for neurofibromatosis type 2

G. Thomas, O. Delattre, J. Dumanski, 1993, Genes, chromosomes & cancer.

The PHF21A neurodevelopmental disorder: an evaluation of clinical data from 13 patients

G. Houge, E. Bijlsma, R. Poole, 2023, Clinical dysmorphology.

Development, behaviour and sensory processing in Marshall-Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes.

R. Hennekam, C. Shaw-Smith, F. Alkuraya, 2020, Journal of intellectual disability research : JIDR.

Recurrent KIF2A mutations are responsible for classic lissencephaly

C. Bole-Feysot, J. Steffann, J. Pedespan, 2017, neurogenetics.

Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition

Golder N Wilson, J. Rosenfeld, R. Pfundt, 2022, Molecular Psychiatry.

Direct assignment of the human βB2 and βB3 crystallin genes to 22q11.2→q12: markers for neurofibromatosis 2

R. Brakenhoff, E. Bijlsma, A. Westerveld, 1991 .

Ectrodactyly with fibular aplasia: a separate entity?

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

Biallelic variants in CENPF causing a phenotype distinct from Strømme syndrome

N. Brunetti‐Pierri, S. Douzgou, B. Franco, 2022, American journal of medical genetics. Part C, Seminars in medical genetics.

Refinement of the genetic cause of ATR-16

S. White, M. Kriek, E. Bijlsma, 2007, Human Genetics.

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.

J. Schuurs-Hoeijmakers, M. Reijnders, H. Brunner, 2018, American journal of human genetics.

Further delineation of the KAT6B molecular and phenotypic spectrum

W. Reardon, K. Devriendt, J. Clayton-Smith, 2014, European Journal of Human Genetics.

Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content

Matthew A. White, C. Bönnemann, R. Maroofian, 2020, Human molecular genetics.

Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome.

J. Roach, B. D. de Vries, K. Prescott, 2015, American journal of human genetics.

Disease Onset in Huntington's Disease: When Is the Conversion?

R. Roos, S. Tabrizi, A. Durr, 2021, Movement disorders clinical practice.

The Effectiveness of an Online Decision Aid on Reproductive Options for Couples at Risk of Transmitting a Genetic Disease to their Offspring: Protocol for a Randomized Controlled Trial

H. de Vries, R. Crutzen, K. Stuurman, 2023, Health Psychology Bulletin.

CAG size-specific risk estimates for intermediate allele repeat instability in Huntington disease

M. Hayden, J. Collins, Y. P. Goldberg, 2013, Journal of Medical Genetics.

A new mutation for Huntington disease following maternal transmission of an intermediate allele.

M. Hayden, M. Losekoot, E. Bijlsma, 2015, European journal of medical genetics.

Risk Assessment for Huntington's Disease for (Future) Offspring Requires Offering Preconceptional CAG Analysis to Both Partners.

C. D. de Die-Smulders, W. Dondorp, G. de Wert, 2019, Journal of Huntington's disease.

Predictive Genetic Testing: The Huntington Disease Model

E. Bijlsma, A. Tibben, 2009 .

Efficacy of Baricitinib in the Treatment of Chilblains Associated With Aicardi‐Goutières Syndrome, a Type I Interferonopathy

C. Ruivenkamp, W. Dik, M. Versnel, 2019, Arthritis & rheumatology.

Disease‐associated mutations in the actin‐binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity

S. Robertson, K. Devriendt, G. Scarano, 2012, Human mutation.

A missense variant in the nuclear export signal of the FMR1 gene causes intellectual disability.

C. Ruivenkamp, R. Willemsen, E. Bijlsma, 2020, Gene.

Bicuspid Aortic Valve Morphology and Associated Cardiovascular Abnormalities in Fetal Turner Syndrome: A Pathomorphological Study

M. Jongbloed, B. Mulder, A. G. Gittenberger-de Groot, 2014, Fetal Diagnosis and Therapy.

Double trisomy 48,XXX,+18 in association with increased nuchal translucency; two cases

E. Bijlsma, C. Bilardo, A. C. Knegt, 2004, Prenatal diagnosis.

Putting genome-wide sequencing in neonates into perspective

A. Haeringen, D. Barge-Schaapveld, C. Ruivenkamp, 2018, Genetics in Medicine.

Diagnostic genetic testing for Huntington's disease

R. Roos, D. Craufurd, R. Macleod, 2014, Practical Neurology.

Frequency of the loss of CAA interruption in the HTT CAG tract and implications for Huntington disease in the reduced penetrance range

M. Hayden, J. Collins, F. Squitieri, 2020, Genetics in Medicine.

Twist exome capture allows for lower average sequence coverage in clinical exome sequencing

Pieter B. T. Neerincx, Spencer J. Gibson, Farid Yavari Dizjikan, 2023, Human Genomics.

Heterozygous Loss-of-Function Mutations in DLL 4 Cause Adams-Oliver Syndrome Report

J. Roach, K. Prescott, P. Itin, 2018 .

Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signature

B. Dallapiccola, M. Tartaglia, V. Siu, 2020, Clinical Epigenetics.

Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration

A. Need, M. Kayikci, D. Smedley, 2023, American journal of human genetics.

Efficacy of Baricitinib in the Treatment of Chilblains Associated With Aicardi‐Goutières Syndrome, a Type I Interferonopathy

C. Ruivenkamp, W. Dik, M. Versnel, 2019, Arthritis & rheumatology.

Letter regarding the article "Extending the phenotype of recurrent rearrangements of 16p11.2: Deletions in mentally retarded patients without autism and in normal individuals ()" and the diagnosis of coexisting Mowat-Wilson syndrome in a patient with 16p11.2 deletion.

D. Amor, E. Bijlsma, 2018, European journal of medical genetics.

Diagnosing Juvenile Huntington’s Disease: An Explorative Study among Caregivers of Affected Children

R. Roos, C. D. de Die-Smulders, E. Bijlsma, 2020, Brain sciences.

Recommendations for the Predictive Genetic Test in Huntington's Disease Committee and Working Group 'genetic Testing Counselling' of the European Huntington Disease Network †, ‡

D. Craufurd, R. Macleod, F. Squitieri, 2022 .

Noninvasive prenatal diagnosis of Huntington disease: detection of the paternally inherited expanded CAG repeat in maternal plasma

N. Muntjewerff, E. Bakker, I. B. Mathijssen, 2015, Prenatal diagnosis.

Prospective screening for subtelomeric rearrangements in children with mental retardation of unknown aetiology: the Amsterdam experience

R. Hennekam, D. Smeets, E. Bijlsma, 2002, Journal of medical genetics.

The location of constitutional neurofibromatosis 2 (NF2) splice site mutations is associated with the severity of NF2

C. Lázaro, G. Rouleau, R. Ramsden, 2005, Journal of Medical Genetics.

Additional cryptic CNVs in mentally retarded patients with apparently balanced karyotypes.

Osdilly Giromus, E. Bakker, C. Ruivenkamp, 2010, European journal of medical genetics.