C. Rooryck

发表

CRISPR-Cas9 genome editing induces megabase-scale chromosomal truncations

G. Cullot, J. Boutin, J. Toutain, 2019, Nature Communications.

Complete loss of function of the ubiquitin ligase HERC2 causes a severe neurodevelopmental phenotype

C. Rooryck, D. Lacombe, C. Baumann, 2016, European Journal of Human Genetics.

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

P. Elliott, M. Jarvelin, C. Gieger, 2011, Nature.

Prenatal diagnosis using array-CGH: a French experience.

J. Toutain, C. Rooryck, D. Lacombe, 2013, European journal of medical genetics.

Characterization of Fabry Disease cardiac involvement according to longitudinal strain, cardiometabolic exercise test, and T1 mapping

H. Cochet, C. Rooryck, D. Lacombe, 2020, The International Journal of Cardiovascular Imaging.

Early-onset obesity and paternal 2pter deletion encompassing the ACP1, TMEM18, and MYT1L genes

C. Rooryck, G. Lefort, P. Jonveaux, 2013, European Journal of Human Genetics.

Phenotype–genotype correlations in 17 new patients with an Xp11.23p11.22 microduplication and review of the literature

E. Bourel-ponchel, C. Rooryck, D. Lacombe, 2015, American journal of medical genetics. Part A.

Interest of chromosomal microarray analysis in the prenatal diagnosis of fetal intrauterine growth restriction

J. Toutain, P. Pennamen, C. Rooryck, 2018, Prenatal diagnosis.

Understanding flow patterns and inflammatory status in intracranial aneurysms: Towards a personalized medicine.

V. Dousset, C. Rooryck, P. Blanco, 2016, Journal of neuroradiology. Journal de neuroradiologie.

A 10 Mb duplication in chromosome band 5q31.3-5q33.1 associated with late-onset lipodystrophy, ichthyosis, epilepsy and glomerulonephritis.

P. Calvas, N. Chassaing, C. Rooryck, 2011, European journal of medical genetics.

SCA27 is a cause of early-onset ataxia and developmental delay.

C. Rooryck, D. Lacombe, C. Goizet, 2015, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Arrhythmogenic Remodeling of the Left Ventricle in a Porcine Model of Repaired Tetralogy of Fallot

M. Haïssaguerre, H. Cochet, C. Rooryck, 2018, Circulation. Arrhythmia and electrophysiology.

A homozygous balanced reciprocal translocation suggests LINC00237 as a candidate gene for MOMO (macrosomia, obesity, macrocephaly, and ocular abnormalities) syndrome

D. Cappellen, J. Toutain, C. Rooryck, 2012, American journal of medical genetics. Part A.

Analysis of the intrinsic chromatin binding property of HIV-1 integrase and its regulation by LEDGF/p75 using human chromosomes spreads

C. Zimmer, J. Toutain, C. Rooryck, 2020, bioRxiv.

A 17q12 chromosomal duplication associated with renal disease and esophageal atresia.

P. Calvas, N. Chassaing, C. Rooryck, 2011, European journal of medical genetics.

Identification of Region-Specific Myocardial Gene Expression Patterns in a Chronic Swine Model of Repaired Tetralogy of Fallot

M. Haissaguerre, C. Rooryck, B. Quesson, 2015, PloS one.

New candidate loci identified by array‐CGH in a cohort of 100 children presenting with syndromic obesity

L. Bouneau, S. Julia, J. Toutain, 2014, American journal of medical genetics. Part A.

Sex chromosome aneuploidies and copy-number variants: a further explanation for neurodevelopmental prognosis variability?

B. Gilbert-Dussardier, C. Rooryck, C. Bénéteau, 2017, European Journal of Human Genetics.

Atypical male and female presentations of FLNA-related periventricular nodular heterotopia.

P. Fergelot, C. Marchal, C. Rooryck, 2012, European journal of medical genetics.

Bilateral periventricular nodular heterotopia in France: frequency of mutations in FLNA, phenotypic heterogeneity and spectrum of mutations

C. Marchal, A. Toutain, N. Philip, 2009, Journal of Neurology, Neurosurgery & Psychiatry.

Cardiac Contractility Modulation in a Model of Repaired Tetralogy of Fallot: A Sheep Model

M. Haïssaguerre, L. Labrousse, C. Rooryck, 2016, Pediatric Cardiology.

Psychosocial Impact of Predictive Genetic Testing in Hereditary Heart Diseases: The PREDICT Study

S. Tezenas du Montcel, A. Toutain, C. Rooryck, 2020, Journal of Clinical Medicine.

SLC24A5 mutations are associated with non-syndromic oculocutaneous albinism.

C. Rooryck, D. Lacombe, E. Colin, 2014, The Journal of investigative dermatology.

Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability

C. Depienne, A. Toutain, C. Rooryck, 2017, Jornal de Pediatria.

Brachydactyly type A1 with short humerus and associated skeletal features

S. Mundlos, A. Toutain, C. Rooryck, 2010, American journal of medical genetics. Part A.

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.

Mutations in MYT1, encoding the myelin transcription factor 1, are a rare cause of OAVS

F. Denoyelle, A. Toutain, C. Rooryck, 2016, Journal of Medical Genetics.

Infl uence of FCGR 3 AV 212 F and TNFRSF 1 BM 196 R genotypes in patients with rheumatoid arthritis treated with infl iximab therapy

C. Rooryck, T. Barnetche, B. Arveiler, 2006 .

Noninvasive prenatal diagnosis of genetic diseases induced by triplet repeat expansion by linked read haplotyping and Bayesian approach

P. Calvas, M. Cossée, C. Rooryck, 2022, Scientific Reports.

New Family With Catecholaminergic Polymorphic Ventricular Tachycardia Linked to the Triadin Gene

F. Sacher, C. Rooryck, D. Bozon, 2015, Journal of cardiovascular electrophysiology.

Molecular characterization of an 11q14.3 microdeletion associated with leukodystrophy

C. Rooryck, D. Lacombe, L. Taine, 2004, European Journal of Human Genetics.

Early fetal presentation of Koolen-de Vries: Case report with literature review.

A. Laquérriere, C. Rooryck, M. Vuillaume, 2017, European journal of medical genetics.

Expanding the clinical phenotype at the 3q13.31 locus with a new case of microdeletion and first characterization of the reciprocal duplication.

P. Fergelot, J. Toutain, C. Rooryck, 2013, Molecular genetics and metabolism.

Upright treadmill vs. semi-supine bicycle exercise echocardiography to provoke obstruction in symptomatic hypertrophic cardiomyopathy: a pilot study

C. Rooryck, P. Réant, S. Lafitte, 2018, European heart journal cardiovascular Imaging.

Characterization of hypertrophic cardiomyopathy according to global, regional, and multi-layer longitudinal strain analysis, and prediction of sudden cardiac death

H. Cochet, C. Rooryck, P. Ritter, 2018, The International Journal of Cardiovascular Imaging.

A novel de novo mutation in MYT1, the unique OAVS gene identified so far

C. Rooryck, D. Lacombe, M. I. Melaragno, 2017, European Journal of Human Genetics.

New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix–Saguenay

A. Durr, P. Convers, M. Koenig, 2015, Annals of neurology.

Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome

Olivier Tassy, P. Pennamen, C. Rooryck, 2022, American journal of medical genetics. Part A.

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.

Chromosomal microarray analysis in fetuses with an isolated congenital heart defect: A retrospective, nationwide, multicenter study in France

L. Salomon, C. Rooryck, C. Bénéteau, 2019, Prenatal diagnosis.

Highly restricted deletion of the SNORD116 region is implicated in Prader–Willi Syndrome

J. Cavaille, C. Rooryck, J. Salles, 2014, European Journal of Human Genetics.

Fetal phenotypes in otopalatodigital spectrum disorders

P. Fergelot, J. Melki, A. Verloes, 2016, Clinical genetics.

SMAD4 germinal mosaicism in a family with juvenile polyposis and hypertrophic osteoarthropathy.

C. Rooryck, B. le Bail, D. Lacombe, 2005, Journal of pediatric gastroenterology and nutrition.

Further delineation of the phenotype caused by biallelic variants in the WDR4 gene

C. Rooryck, D. Lacombe, E. Lasseaux, 2018, Clinical genetics.

Oculo-auriculo-vertebral spectrum: new genes and literature review on a complex disease

C. Rooryck, D. Lacombe, Angèle Tingaud-Sequeira, 2022, Journal of Medical Genetics.

Genetic basis of oculocutaneous albinism

C. Rooryck, D. Lacombe, B. Arveiler, 2009 .

Molecular characterization of a series of 990 index patients with albinism

P. Pennamen, C. Rooryck, D. Lacombe, 2018, Pigment cell & melanoma research.

Oculocutaneous albinism with TYRP1 gene mutations in a Caucasian patient.

C. Rooryck, B. Arveiler, C. Roudaut, 2006, Pigment cell research.

Molecular diagnosis of oculocutaneous albinism: new mutations in the OCA1–4 genes and practical aspects

C. Rooryck, D. Lacombe, B. Arveiler, 2008, Pigment cell & melanoma research.

Identification of a homozygous mutation of SLC24A5 (OCA6) in two patients with oculocutaneous albinism from French Guiana

C. Rooryck, D. Lacombe, P. Couppié, 2016, Pigment cell & melanoma research.

High‐resolution array‐CGH in patients with oculocutaneous albinism identifies new deletions of the TYR, OCA2, and SLC45A2 genes and a complex rearrangement of the OCA2 gene

B. Gilbert-Dussardier, J. Toutain, C. Rooryck, 2014, Pigment cell & melanoma research.

High resolution mapping of OCA2 intragenic rearrangements and identification of a founder effect associated with a deletion in Polish albino patients

C. Rooryck, D. Lacombe, H. Dollfus, 2010, Human Genetics.

Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility

R. Redon, K. Strauch, P. Lambiase, 2022, Nature Genetics.

A mutation in the 3'-UTR of the HDAC6 gene abolishing the post-transcriptional regulation mediated by hsa-miR-433 is linked to a new form of dominant X-linked chondrodysplasia.

N. Chassaing, B. Gilbert-Dussardier, C. Rooryck, 2010, Human molecular genetics.

Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders

K. Mathews, A. Toutain, P. Shannon, 2020, Human mutation.

Coffin–Siris Syndrome and the BAF Complex: Genotype–Phenotype Study in 63 Patients

A. V. Vulto-van Silfhout, A. Hoischen, D. Horn, 2013, Human mutation.

Thrombocytopenia resulting from mutations in filamin A can be expressed as an isolated syndrome.

Patricia Fergelot, Paquita Nurden, William Vainchenker, 2011, Blood.

19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference

P. Fergelot, P. Gasparini, S. Mansour, 2017, European Journal of Human Genetics.

A framework to identify contributing genes in patients with Phelan-McDermid syndrome

T. Bourgeron, R. Delorme, T. Rolland, 2017, npj Genomic Medicine.

A framework to identify modifier genes in patients with Phelan-McDermid syndrome

T. Bourgeron, R. Delorme, T. Rolland, 2017, bioRxiv.

Abnormal Cellular Phenotypes Induced by Three TMPO/LAP2 Variants Identified in Men with Cardiomyopathies

F. Chapon, B. Buendia, C. Rooryck, 2023, Cells.

A framework to identify contributing genes in patients with Phelan-McDermid syndrome

T. Bourgeron, R. Delorme, T. Rolland, 2017, npj Genomic Medicine.

9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping

V. Dulieu, P. Jouk, C. Rooryck, 2015, European Journal of Human Genetics.

Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

Pieter B. T. Neerincx, Spencer J. Gibson, Farid Yavari Dizjikan, 2021, European Journal of Human Genetics.

Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

Pieter B. T. Neerincx, Spencer J. Gibson, Farid Yavari Dizjikan, 2021, European Journal of Human Genetics.

A recurrent missense variant in EYA3 gene is associated with oculo-auriculo-vertebral spectrum

C. Rooryck, D. Lacombe, Angèle Tingaud-Sequeira, 2021, Human Genetics.

Array‐CGH analysis of a cohort of 86 patients with oculoauriculovertebral spectrum

C. Rooryck, C. Goizet, B. Arveiler, 2010, American journal of medical genetics. Part A.

2.3 Mb terminal deletion in 12p13.33 associated with oculoauriculovertebral spectrum and evaluation of WNT5B as a candidate gene.

C. Rooryck, D. Lacombe, D. Simon, 2009, European journal of medical genetics.

Modulation of the intrinsic chromatin binding property of HIV-1 integrase by LEDGF/p75

C. Zimmer, J. Toutain, C. Rooryck, 2021, Nucleic acids research.

CRISPR-Cas9 globin editing can induce megabase-scale copy-neutral losses of heterozygosity in hematopoietic cells

D. Cappellen, G. Cullot, J. Boutin, 2021, Nature Communications.

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder.

Stephan J Sanders, R. Redon, J. Rosenfeld, 2017, American journal of human genetics.

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder.

Stephan J Sanders, R. Redon, J. Rosenfeld, 2017, American journal of human genetics.

Deletion in 2q35 excluding the IHH gene leads to fetal severe limb anomalies and suggests a disruption of chromatin architecture

P. Fergelot, P. Pennamen, C. Rooryck, 2018, European Journal of Human Genetics.

Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features

S. Julia, R. Touraine, A. Afenjar, 2018, Journal of Medical Genetics.

A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis

L. Vissers, A. Hoischen, J. Clayton-Smith, 2021, European Journal of Human Genetics.

Homozygous 16p13.11 duplication associated with mild intellectual disability and urinary tract malformations in two siblings born from consanguineous parents

J. Toutain, C. Rooryck, D. Lacombe, 2015, American journal of medical genetics. Part A.

Albinism in a patient with mutations at both the OA1 and OCA3 loci

D. Lipsker, C. Rooryck, D. Lacombe, 2016, Pigment cell & melanoma research.

Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures

B. V. van Bon, B. D. de Vries, A. Toutain, 2012, American journal of medical genetics. Part A.

Characterization of a de novo balanced translocation t(9;18)(p23;q12.2) in a patient with oculoauriculovertebral spectrum.

C. Rooryck, D. Lacombe, L. Taine, 2010, European journal of medical genetics.

Blepharophimosis, ptosis, epicanthus inversus syndrome with translocation and deletion at chromosome 3q23 in a black African female.

C. Hans, C. Rooryck, D. Lacombe, 2012, European journal of medical 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.

Discovery of a genetic module essential for assigning left–right asymmetry in humans and ancestral vertebrates

B. Venkatesh, H. R. Crollius, F. Eisenhaber, 2021, Nature Genetics.

Foetal onset of EIF2B related disorder in two siblings: cerebellar hypoplasia with absent Bergmann glia and severe hypomyelination

A. Laquérriere, C. Rooryck, M. Martin-Négrier, 2020, Acta Neuropathologica Communications.

Human interleukin-2 receptor β mutations associated with defects in immunity and peripheral tolerance

Kenneth G. C. Smith, R. Döffinger, Y. Modis, 2019, The Journal of experimental medicine.

Discovery of a genetic module essential for assigning left–right asymmetry in humans and ancestral vertebrates

B. Venkatesh, H. R. Crollius, F. Eisenhaber, 2021, Nature Genetics.

Mutations in the lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome

H. Peeters, M. Bitner-Glindzicz, R. Hennekam, 2011, Nature Genetics.

PADDAS syndrome associated with hair dysplasia caused by a de novo missense variant of PUM1

P. Fergelot, P. Pennamen, C. Rooryck, 2019, American journal of medical genetics. Part A.

Solving unsolved rare neurological diseases—a Solve-RD viewpoint

Pieter B. T. Neerincx, Spencer J. Gibson, Farid Yavari Dizjikan, 2021, European Journal of Human Genetics.

Hallerman-Streiff-like syndrome presenting with laterality and cardiac defects.

F. Denoyelle, C. Rooryck, D. Lacombe, 2009, Clinical dysmorphology.

CRISPR-Cas9 genome editing induces megabase-scale chromosomal truncations

G. Cullot, J. Boutin, J. Toutain, 2019, Nature Communications.

Comparison of resting and exercise echocardiographic parameters as indicators of outcomes in hypertrophic cardiomyopathy.

C. Rooryck, X. Pillois, P. Réant, 2015, Journal of the American Society of Echocardiography : official publication of the American Society of Echocardiography.

Bardet-Biedl Syndrome and Brain Abnormalities

A. Verloes, C. Rooryck, D. Lacombe, 2007, Neuropediatrics.

Evidence of mosaicism in SPAST variant carriers in four French families

C. Depienne, G. Stevanin, P. Pennamen, 2021, European Journal of Human Genetics.

Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool

C. Rooryck, L. Pasquier, E. Colin, 2023, Frontiers in Genetics.

Functional and genetic analyses of ZYG11B provide evidences for its involvement in OAVS

C. Rooryck, D. Lacombe, Angèle Tingaud-Sequeira, 2020, Molecular genetics & genomic medicine.

Prenatal retinoic acid exposure reveals candidate genes for craniofacial disorders

C. Rooryck, D. Lacombe, S. Claverol, 2018, Scientific Reports.

[Bardet-Biedl syndrome].

C. Rooryck, D. Lacombe, 2008, Annales d'endocrinologie.

Performance of semiconductor sequencing platform for non‐invasive prenatal genetic screening for fetal aneuploidy: results from a multicenter prospective cohort study in a clinical setting

C. Rooryck, J. Nectoux, L. Mandelbrot, 2019, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

BMP9 and BMP10 are necessary for proper closure of the ductus arteriosus

C. Rooryck, F. Faravelli, C. Coutton, 2015, Proceedings of the National Academy of Sciences.

Erratum: De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder (American Journal of Human Genetics (2017) 100(2) (352–363) (S0002929717300034) (10.1016/j.ajhg.2017.01.003))

Stephan J Sanders, R. Redon, J. Rosenfeld, 2017 .

19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference

P. Fergelot, P. Gasparini, S. Mansour, 2017, European Journal of Human Genetics.

Human IL-2 receptor β mutations associated with defects in immunity and peripheral tolerance

Y. Modis, L. Notarangelo, P. Pennamen, 2018, bioRxiv.

Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum

P. Fergelot, A. Mégarbané, N. Chassaing, 2016, Journal of Human Genetics.

Antenatal ultrasound features of isolated recurrent copy number variation in 7q11.23 (Williams syndrome and 7q11.23 duplication syndrome)

S. Julia, C. Rooryck, F. Vialard, 2023, Prenatal diagnosis.

First female prenatal case of osteopathia striata with cranial sclerosis in a fetus carrying a de-novo 1.9 Mbp interstitial deletion at Xq11.1q11.2.

J. Toutain, C. Rooryck, D. Lacombe, 2017, Clinical dysmorphology.

Proarrhythmic remodelling of the right ventricle in a porcine model of repaired tetralogy of Fallot

M. Haïssaguerre, H. Cochet, C. Rooryck, 2016, Heart.

A 580 kb microdeletion in 17q21.32 associated with mental retardation, microcephaly, cleft palate, and cardiac malformation.

C. Rooryck, D. Lacombe, L. Taine, 2008, European journal of medical genetics.

Whole Exome Sequencing Reveals a Large Genetic Heterogeneity and Revisits the Causes of Hypertrophic Cardiomyopathy.

C. Béroud, F. Magdinier, C. Rooryck, 2019, Circulation. Genomic and precision medicine.

Influence of FCGR3A-V212F and TNFRSF1B-M196R genotypes in patients with rheumatoid arthritis treated with infliximab therapy.

C. Rooryck, T. Barnetche, B. Arveiler, 2008, Clinical and Experimental Rheumatology.

1.5 Mb microdeletion in 15q24 in a patient with mild OAVS phenotype.

J. Toutain, C. Rooryck, D. Lacombe, 2012, European journal of medical genetics.

A framework to identify contributing genes in patients with Phelan-McDermid syndrome

T. Bourgeron, R. Delorme, T. Rolland, 2017, NPJ Genomic Medicine.

OTX2 duplications: a recurrent cause of oculo-auriculo-vertebral spectrum

L. Bouneau, C. Rooryck, Angèle Tingaud-Sequeira, 2022, Journal of Medical Genetics.

Morphological and genetic causes of fetal cardiomyopathies

C. Rooryck, P. Richard, T. Attié-Bitach, 2023, Clinical genetics.

Deletion in 2q35 excluding the IHH gene leads to fetal severe limb anomalies and suggests a disruption of chromatin architecture

P. Fergelot, P. Pennamen, C. Rooryck, 2018, European Journal of Human Genetics.

A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders

Allison G. Dempsey, S. Spence, D. Ledbetter, 2012, Journal of Medical Genetics.

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.

Prenatal retinoic acid exposure reveals candidate genes for craniofacial disorders

C. Rooryck, D. Lacombe, S. Claverol, 2018, Scientific Reports.

Dysmorphic features in subtelomeric 20p13 deletion excluding JAG1: a recognizable microdeletion phenotype?

J. Toutain, C. Rooryck, D. Lacombe, 2012, European journal of medical genetics.

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

L. Coin, C. Gieger, R. Pfundt, 2011, Nature.

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.

P. Elliott, M. Jarvelin, C. Gieger, 2021 .

SLC24A5 mutations are associated with non-syndromic oculocutaneous albinism.

C. Rooryck, D. Lacombe, E. Colin, 2014, The Journal of investigative dermatology.

New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix–Saguenay

A. Durr, P. Convers, M. Koenig, 2015, Annals of neurology.

Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures

B. V. van Bon, B. D. de Vries, A. Toutain, 2012, American journal of medical genetics. Part A.