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Article ; Online: Author Correction: Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts.

Giannuzzi, Giuliana / Chatron, Nicolas / Mannik, Katrin / Auwerx, Chiara / Pradervand, Sylvain / Willemin, Gilles / Hoekzema, Kendra / Nuttle, Xander / Chrast, Jacqueline / Sadler, Marie C / Porcu, Eleonora / Herault, Yann / Isidor, Bertrand / Gilbert-Dussardier, Brigitte / Eichler, Evan E / Kutalik, Zoltan / Reymond, Alexandre

NPJ genomic medicine

2023 Volume 8, Issue 1, Page(s) 9

Language	English
Publishing date	2023-05-24
Publishing country	England
Document type	Published Erratum
ZDB-ID	2813848-X
ISSN	2056-7944 ; 2056-7944
ISSN (online)	2056-7944
ISSN	2056-7944
DOI	10.1038/s41525-023-00354-z
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Article ; Online: Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts.

NPJ genomic medicine

2022 Volume 7, Issue 1, Page(s) 38

Abstract: Recurrent copy-number variations (CNVs) at chromosome 16p11.2 are associated with neurodevelopmental diseases, skeletal system abnormalities, anemia, and genitourinary defects. Among the 40 protein-coding genes encompassed within the rearrangement, some ... ...

Abstract	Recurrent copy-number variations (CNVs) at chromosome 16p11.2 are associated with neurodevelopmental diseases, skeletal system abnormalities, anemia, and genitourinary defects. Among the 40 protein-coding genes encompassed within the rearrangement, some have roles in leukocyte biology and immunodeficiency, like SPN and CORO1A. We therefore investigated leukocyte differential counts and disease in 16p11.2 CNV carriers. In our clinically-recruited cohort, we identified three deletion carriers from two families (out of 32 families assessed) with neutropenia and lymphopenia. They had no deleterious single-nucleotide or indel variant in known cytopenia genes, suggesting a possible causative role of the deletion. Noticeably, all three individuals had the lowest copy number of the human-specific BOLA2 duplicon (copy-number range: 3-8). Consistent with the lymphopenia and in contrast with the neutropenia associations, adult deletion carriers from UK biobank (n = 74) showed lower lymphocyte (Padj = 0.04) and increased neutrophil (Padj = 8.31e-05) counts. Mendelian randomization studies pinpointed to reduced CORO1A, KIF22, and BOLA2-SMG1P6 expressions being causative for the lower lymphocyte counts. In conclusion, our data suggest that 16p11.2 deletion, and possibly also the lowest dosage of the BOLA2 duplicon, are associated with low lymphocyte counts. There is a trend between 16p11.2 deletion with lower copy-number of the BOLA2 duplicon and higher susceptibility to moderate neutropenia. Higher numbers of cases are warranted to confirm the association with neutropenia and to resolve the involvement of the deletion coupled with deleterious variants in other genes and/or with the structure and copy number of segments in the CNV breakpoint regions.
Language	English
Publishing date	2022-06-17
Publishing country	England
Document type	Journal Article
ZDB-ID	2813848-X
ISSN	2056-7944 ; 2056-7944
ISSN (online)	2056-7944
ISSN	2056-7944
DOI	10.1038/s41525-022-00308-x
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Article: Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles.

Bassani, Sissy / Chrast, Jacqueline / Ambrosini, Giovanna / Voisin, Norine / Schütz, Frédéric / Brusco, Alfredo / Sirchia, Fabio / Turban, Lydia / Schubert, Susanna / Jamra, Rami Abou / Schlump, Jan-Ulrich / DeMille, Desiree / Bayrak-Toydemir, Pinar / Nelson, Gary Rex / Wong, Kristen Nicole / Duncan, Laura / Mosera, Mackenzie / Gilissen, Christian / Vissers, Lisenka E L M /

Pfundt, Rolph / Kersseboom, Rogier / Yttervik, Hilde / Hansen, Geir Åsmund Myge / Falkenberg Smeland, Marie / Butler, Kameryn M / Lyons, Michael J / Carvalho, Claudia M B / Zhang, Chaofan / Lupski, James R / Potocki, Lorraine / Flores-Gallegos, Leticia / Morales-Toquero, Rodrigo / Petit, Florence / Yalcin, Binnaz / Tuttle, Annabelle / Elloumi, Houda Zghal / Mccormick, Lane / Kukolich, Mary / Klaas, Oliver / Horvath, Judit / Scala, Marcello / Iacomino, Michele / Operto, Francesca / Zara, Federico / Writzl, Karin / Maver, Ales / Haanpää, Maria K / Pohjola, Pia / Arikka, Harri / Iseli, Christian / Guex, Nicolas / Reymond, Alexandre

medRxiv : the preprint server for health sciences

2024

Abstract: Background: We previously described the KINSSHIP syndrome, an autosomal dominant disorder associated with intellectual disability (ID), mesomelic dysplasia and horseshoe kidney,caused by : Methods: Evolutionary constraints suggest that other mode-of- ... ...

Abstract	Background: We previously described the KINSSHIP syndrome, an autosomal dominant disorder associated with intellectual disability (ID), mesomelic dysplasia and horseshoe kidney,caused by Methods: Evolutionary constraints suggest that other mode-of-inheritance could be at play. We challenged this hypothesis by screening ID cohorts for individuals with predicted-to-be deleterious variants in Results: We identified an individual with a KINSSHIP-like phenotype carrying a Conclusions: Our results and the high pleiotropy shown by variation at this locus suggest that minute changes in
Language	English
Publishing date	2024-01-17
Publishing country	United States
Document type	Preprint
DOI	10.1101/2024.01.14.24301100
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Article ; Online: Variants in USP48 encoding ubiquitin hydrolase are associated with autosomal dominant non-syndromic hereditary hearing loss.

Bassani, Sissy / van Beelen, Edward / Rossel, Mireille / Voisin, Norine / Morgan, Anna / Arribat, Yoan / Chatron, Nicolas / Chrast, Jacqueline / Cocca, Massimiliano / Delprat, Benjamin / Faletra, Flavio / Giannuzzi, Giuliana / Guex, Nicolas / Machavoine, Roxane / Pradervand, Sylvain / Smits, Jeroen J / van de Kamp, Jiddeke M / Ziegler, Alban / Amati, Francesca /

Marlin, Sandrine / Kremer, Hannie / Locher, Heiko / Maurice, Tangui / Gasparini, Paolo / Girotto, Giorgia / Reymond, Alexandre

Human molecular genetics

2021 Volume 30, Issue 19, Page(s) 1785–1796

Abstract: Non-Syndromic Hereditary Hearing Loss (NSHHL) is a genetically heterogeneous sensory disorder with about 120 genes already associated. Through exome sequencing (ES) and data aggregation, we identified a family with six affected individuals and one ... ...

Abstract	Non-Syndromic Hereditary Hearing Loss (NSHHL) is a genetically heterogeneous sensory disorder with about 120 genes already associated. Through exome sequencing (ES) and data aggregation, we identified a family with six affected individuals and one unrelated NSHHL patient with predicted-to-be deleterious missense variants in USP48. We also uncovered an eighth patient presenting unilateral cochlear nerve aplasia and a de novo splice variant in the same gene. USP48 encodes a ubiquitin carboxyl-terminal hydrolase under evolutionary constraint. Pathogenicity of the variants is supported by in vitro assays that showed that the mutated proteins are unable to hydrolyze tetra-ubiquitin. Correspondingly, three-dimensional representation of the protein containing the familial missense variant is situated in a loop that might influence the binding to ubiquitin. Consistent with a contribution of USP48 to auditory function, immunohistology showed that the encoded protein is expressed in the developing human inner ear, specifically in the spiral ganglion neurons, outer sulcus, interdental cells of the spiral limbus, stria vascularis, Reissner's membrane and in the transient Kolliker's organ that is essential for auditory development. Engineered zebrafish knocked-down for usp48, the USP48 ortholog, presented with a delayed development of primary motor neurons, less developed statoacoustic neurons innervating the ears, decreased swimming velocity and circling swimming behavior indicative of vestibular dysfunction and hearing impairment. Corroboratingly, acoustic startle response assays revealed a significant decrease of auditory response of zebrafish lacking usp48 at 600 and 800 Hz wavelengths. In conclusion, we describe a novel autosomal dominant NSHHL gene through a multipronged approach combining ES, animal modeling, immunohistology and molecular assays.
MeSH term(s)	Animals ; Hearing Loss/genetics ; Humans ; Hydrolases ; Reflex, Startle ; Ubiquitin ; Ubiquitin-Specific Proteases ; Zebrafish/genetics
Chemical Substances	Ubiquitin ; Hydrolases (EC 3.-) ; USP48 protein, human (EC 3.4.19.12) ; Ubiquitin-Specific Proteases (EC 3.4.19.12)
Language	English
Publishing date	2021-05-12
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1108742-0
ISSN	1460-2083 ; 0964-6906
ISSN (online)	1460-2083
ISSN	0964-6906
DOI	10.1093/hmg/ddab145
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Article ; Online: The Human-Specific BOLA2 Duplication Modifies Iron Homeostasis and Anemia Predisposition in Chromosome 16p11.2 Autism Individuals.

American journal of human genetics

2019 Volume 105, Issue 5, Page(s) 947–958

Abstract: Human-specific duplications at chromosome 16p11.2 mediate recurrent pathogenic 600 kbp BP4-BP5 copy-number variations, which are among the most common genetic causes of autism. These copy-number polymorphic duplications are under positive selection and ... ...

Abstract	Human-specific duplications at chromosome 16p11.2 mediate recurrent pathogenic 600 kbp BP4-BP5 copy-number variations, which are among the most common genetic causes of autism. These copy-number polymorphic duplications are under positive selection and include three to eight copies of BOLA2, a gene involved in the maturation of cytosolic iron-sulfur proteins. To investigate the potential advantage provided by the rapid expansion of BOLA2, we assessed hematological traits and anemia prevalence in 379,385 controls and individuals who have lost or gained copies of BOLA2: 89 chromosome 16p11.2 BP4-BP5 deletion carriers and 56 reciprocal duplication carriers in the UK Biobank. We found that the 16p11.2 deletion is associated with anemia (18/89 carriers, 20%, p = 4e-7, OR = 5), particularly iron-deficiency anemia. We observed similar enrichments in two clinical 16p11.2 deletion cohorts, which included 6/63 (10%) and 7/20 (35%) unrelated individuals with anemia, microcytosis, low serum iron, or low blood hemoglobin. Upon stratification by BOLA2 copy number, our data showed an association between low BOLA2 dosage and the above phenotypes (8/15 individuals with three copies, 53%, p = 1e-4). In parallel, we analyzed hematological traits in mice carrying the 16p11.2 orthologous deletion or duplication, as well as Bola2
MeSH term(s)	Anemia/genetics ; Animals ; Autistic Disorder/genetics ; Chromosome Deletion ; Chromosome Disorders/genetics ; Chromosome Duplication/genetics ; Chromosomes, Human, Pair 16/genetics ; DNA Copy Number Variations/genetics ; Female ; Genotype ; Heterozygote ; Homeostasis/genetics ; Humans ; Iron ; Male ; Phenotype ; Proteins/genetics
Chemical Substances	BOLA2 protein, human ; Proteins ; Iron (E1UOL152H7)
Language	English
Publishing date	2019-10-24
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	219384-x
ISSN	1537-6605 ; 0002-9297
ISSN (online)	1537-6605
ISSN	0002-9297
DOI	10.1016/j.ajhg.2019.09.023
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Article ; Online: Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndrome.

De Nittis, Pasquelena / Efthymiou, Stephanie / Sarre, Alexandre / Guex, Nicolas / Chrast, Jacqueline / Putoux, Audrey / Sultan, Tipu / Raza Alvi, Javeria / Ur Rahman, Zia / Zafar, Faisal / Rana, Nuzhat / Rahman, Fatima / Anwar, Najwa / Maqbool, Shazia / Zaki, Maha S / Gleeson, Joseph G / Murphy, David / Galehdari, Hamid / Shariati, Gholamreza /

Mazaheri, Neda / Sedaghat, Alireza / Lesca, Gaetan / Chatron, Nicolas / Salpietro, Vincenzo / Christoforou, Marilena / Houlden, Henry / Simonds, William F / Pedrazzini, Thierry / Maroofian, Reza / Reymond, Alexandre

Journal of medical genetics

2020 Volume 58, Issue 12, Page(s) 815–831

Abstract: Background: Pathogenic variants of : Methods: We used echocardiography and telemetric ECG recordings to investigate consequences of : Results: We delineated a key role of : Conclusions: Our data demonstrate that loss of negative regulation of ... ...

Abstract	Background: Pathogenic variants of Methods: We used echocardiography and telemetric ECG recordings to investigate consequences of Results: We delineated a key role of Conclusions: Our data demonstrate that loss of negative regulation of the inhibitory G-protein signalling causes HR perturbations in
MeSH term(s)	Adolescent ; Animals ; Arrhythmias, Cardiac/genetics ; Arrhythmias, Cardiac/physiopathology ; Child ; Child, Preschool ; Developmental Disabilities/genetics ; Developmental Disabilities/physiopathology ; Female ; GTP-Binding Protein beta Subunits/genetics ; GTP-Binding Protein beta Subunits/metabolism ; Gene Expression Profiling/methods ; Heart/physiopathology ; Heart Rate/genetics ; Heart Rate/physiology ; Humans ; Male ; Mice, Inbred C57BL ; Mice, Knockout ; Mutation ; Pedigree ; Signal Transduction/genetics ; Syndrome ; Exome Sequencing/methods ; Young Adult ; Mice
Chemical Substances	GNB5 protein, human ; GTP-Binding Protein beta Subunits
Language	English
Publishing date	2020-11-10
Publishing country	England
Document type	Journal Article ; Multicenter Study ; Research Support, Non-U.S. Gov't
ZDB-ID	220881-7
ISSN	1468-6244 ; 0022-2593
ISSN (online)	1468-6244
ISSN	0022-2593
DOI	10.1136/jmedgenet-2020-107015
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Zs.A 177: Show issues

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Article: Spatial distributions of Kv4 channels and KChip2 isoforms in the murine heart based on laser capture microdissection.

Teutsch, Christine / Kondo, Richard P / Dederko, Dorothy A / Chrast, Jacqueline / Chien, Kenneth R / Giles, Wayne R

Cardiovascular research

2007 Volume 73, Issue 4, Page(s) 739–749

Abstract: Objective: Regional differences in repolarizing K(+) current densities and expression levels of their molecular components are important for coordinating the pattern of electrical excitation and repolarization of the heart. The small size of hearts from ...

Abstract	Objective: Regional differences in repolarizing K(+) current densities and expression levels of their molecular components are important for coordinating the pattern of electrical excitation and repolarization of the heart. The small size of hearts from mice may obscure these interventricular and/or transmural expression differences of K(+) channels. We have examined this possibility in adult mouse ventricle using a technology that provides very high spatial resolution of tissue collection. Methods: Conventional manual dissection and laser capture microdissection (LCM) were utilized to dissect tissue from distinct ventricular regions. RNA was isolated from epicardial, mid-myocardial and endocardial layers of both the right and left ventricles. Real-time RT-PCR was used to quantify the transcript expression in these different regions. Results: LCM revealed significant interventricular and transmural gradients for both Kv4.2 and the alpha-subunit of KChIP2. The expression profile of a second K(+) channel transcript, Kir2.1, which is responsible for the inwardly rectifying K(+) current I(k1), showed no interventricular or transmural gradients and therefore served as a negative control. Conclusions: Our findings are in contrast to previous reports of a relatively uniform left ventricular transmural pattern of expression of Kv4.2, Kv4.3 and KChIP2 in adult mouse heart, which appear to be different than that in larger mammals. Specifically, our results demonstrate significant epi- to endocardial differences in the patterns of expression of both Kv4.2 and KChIP2.
MeSH term(s)	Animals ; Endocardium/metabolism ; Gene Expression ; Heart Ventricles/chemistry ; Kv Channel-Interacting Proteins/genetics ; Laser Scanning Cytometry ; Male ; Mice ; Mice, Inbred C57BL ; Microdissection/methods ; Myocardium/chemistry ; Pericardium/metabolism ; Potassium Channels, Inwardly Rectifying/genetics ; RNA, Messenger/analysis ; Reverse Transcriptase Polymerase Chain Reaction ; Shal Potassium Channels/genetics
Chemical Substances	Kir2.1 channel ; Kv Channel-Interacting Proteins ; Potassium Channels, Inwardly Rectifying ; RNA, Messenger ; Shal Potassium Channels
Language	English
Publishing date	2007-03-01
Publishing country	England
Document type	Comparative Study ; Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	80340-6
ISSN	1755-3245 ; 0008-6363
ISSN (online)	1755-3245
ISSN	0008-6363
DOI	10.1016/j.cardiores.2006.11.034
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Zs.A 565: Show issues

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Article ; Online: TBC1D7 mutations are associated with intellectual disability, macrocrania, patellar dislocation, and celiac disease.

Alfaiz, Ali Abdullah / Micale, Lucia / Mandriani, Barbara / Augello, Bartolomeo / Pellico, Maria Teresa / Chrast, Jacqueline / Xenarios, Ioannis / Zelante, Leopoldo / Merla, Giuseppe / Reymond, Alexandre

Human mutation

2014 Volume 35, Issue 4, Page(s) 447–451

Abstract: TBC1D7 forms a complex with TSC1 and TSC2 that inhibits mTORC1 signaling and limits cell growth. Mutations in TBC1D7 were reported in a family with intellectual disability (ID) and macrocrania. Using exome sequencing, we identified two sisters homozygote ...

Abstract	TBC1D7 forms a complex with TSC1 and TSC2 that inhibits mTORC1 signaling and limits cell growth. Mutations in TBC1D7 were reported in a family with intellectual disability (ID) and macrocrania. Using exome sequencing, we identified two sisters homozygote for the novel c.17_20delAGAG, p.R7TfsX21 TBC1D7 truncating mutation. In addition to the already described macrocephaly and mild ID, they share osteoarticular defects, patella dislocation, behavioral abnormalities, psychosis, learning difficulties, celiac disease, prognathism, myopia, and astigmatism. Consistent with a loss-of-function of TBC1D7, the patient's cell lines show an increase in the phosphorylation of 4EBP1, a direct downstream target of mTORC1 and a delay in the initiation of the autophagy process. This second family allows enlarging the phenotypic spectrum associated with TBC1D7 mutations and defining a TBC1D7 syndrome. Our work reinforces the involvement of TBC1D7 in the regulation of mTORC1 pathways and suggests an altered control of autophagy as possible cause of this disease.
MeSH term(s)	Adaptor Proteins, Signal Transducing/metabolism ; Autophagy ; Carrier Proteins/genetics ; Carrier Proteins/metabolism ; Celiac Disease/genetics ; Celiac Disease/pathology ; Cell Cycle Proteins ; Cell Line ; Exome ; Female ; Genetic Predisposition to Disease ; Genetic Variation ; High-Throughput Nucleotide Sequencing ; Homozygote ; Humans ; Intellectual Disability/genetics ; Intellectual Disability/pathology ; Intracellular Signaling Peptides and Proteins ; Megalencephaly/genetics ; Megalencephaly/pathology ; Mutation ; Patellar Dislocation/genetics ; Patellar Dislocation/pathology ; Pedigree ; Phosphoproteins/metabolism
Chemical Substances	Adaptor Proteins, Signal Transducing ; Carrier Proteins ; Cell Cycle Proteins ; EIF4EBP1 protein, human ; Intracellular Signaling Peptides and Proteins ; Phosphoproteins ; TBC1D7 protein, human
Language	English
Publishing date	2014-02-04
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1126646-6
ISSN	1098-1004 ; 1059-7794
ISSN (online)	1098-1004
ISSN	1059-7794
DOI	10.1002/humu.22529
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Zs.A 3586: Show issues

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Article ; Online: Copy number variation modifies expression time courses.

Chaignat, Evelyne / Yahya-Graison, Emilie Aït / Henrichsen, Charlotte N / Chrast, Jacqueline / Schütz, Frédéric / Pradervand, Sylvain / Reymond, Alexandre

Genome research

2010 Volume 21, Issue 1, Page(s) 106–113

Abstract: A preliminary understanding into the phenotypic effect of DNA segment copy number variation (CNV) is emerging. These rearrangements were demonstrated to influence, in a somewhat dose-dependent manner, the expression of genes that map within them. They ... ...

Abstract	A preliminary understanding into the phenotypic effect of DNA segment copy number variation (CNV) is emerging. These rearrangements were demonstrated to influence, in a somewhat dose-dependent manner, the expression of genes that map within them. They were also shown to modify the expression of genes located on their flanks and sometimes those at a great distance from their boundary. Here we demonstrate, by monitoring these effects at multiple life stages, that these controls over expression are effective throughout mouse development. Similarly, we observe that the more specific spatial expression patterns of CNV genes are maintained through life. However, we find that some brain-expressed genes mapping within CNVs appear to be under compensatory loops only at specific time points, indicating that the effect of CNVs on these genes is modulated during development. Notably, we also observe that CNV genes are significantly enriched within transcripts that show variable time courses of expression between strains. Thus, modifying the copy number of a gene may potentially alter not only its expression level, but also the timing of its expression.
MeSH term(s)	Animals ; Brain/embryology ; Brain/metabolism ; DNA Copy Number Variations ; Gene Dosage ; Gene Expression Profiling ; Gene Expression Regulation, Developmental ; Liver/embryology ; Liver/metabolism ; Male ; Mice ; Mice, Inbred C3H ; Mice, Inbred C57BL ; Mice, Inbred DBA ; Time Factors
Language	English
Publishing date	2010-11-17
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1284872-4
ISSN	1549-5469 ; 1088-9051 ; 1054-9803
ISSN (online)	1549-5469
ISSN	1088-9051 ; 1054-9803
DOI	10.1101/gr.112748.110
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Article ; Online: A t(7;12) balanced translocation with breakpoints overlapping those of the Williams-Beuren and 12q14 microdeletion syndromes.

Gimelli, Stefania / Chrast, Jacqueline / Baban, Anwar / Henrichsen, Charlotte N / Lerone, Margherita / Zuffardi, Orsetta / Gimelli, Giorgio / Reymond, Alexandre

American journal of medical genetics. Part A

2010 Volume 152A, Issue 5, Page(s) 1285–1294

Abstract: The molecular characterization of balanced chromosomal rearrangements have always been of advantage in identifying disease-causing genes. Here, we describe the breakpoint mapping of a de novo balanced translocation t(7;12)(q11.22;q14.2) in a patient ... ...

Abstract	The molecular characterization of balanced chromosomal rearrangements have always been of advantage in identifying disease-causing genes. Here, we describe the breakpoint mapping of a de novo balanced translocation t(7;12)(q11.22;q14.2) in a patient presenting with a failure to thrive associated with moderate mental retardation, facial anomalies, and chronic constipation. The localization of the breakpoints and the co-occurrence of Williams-Beuren syndrome and 12q14 microdeletion syndrome phenotypes suggested that the expression of some of the dosage-sensitive genes of these two segmental aneuploidies were modified in cells of the proposita. However, we were unable to identify chromosomes 7 and/or 12-mapping genes that showed disturbed expression in the lymphoblastoids of the proposita. This case showed that position-effect might operate in some tissues, but not in others. It also illustrates the overlap of phenotypes presented by patients with the recently described 12q14 structural rearrangements.
MeSH term(s)	Cell Line ; Chromosome Banding ; Chromosome Breakage ; Chromosome Deletion ; Chromosome Mapping ; Chromosomes, Human, Pair 12/genetics ; Chromosomes, Human, Pair 7/genetics ; Comparative Genomic Hybridization ; Female ; Humans ; Infant ; Infant, Newborn ; Karyotyping ; Pregnancy ; Translocation, Genetic ; Williams Syndrome/genetics
Language	English
Publishing date	2010-04-28
Publishing country	United States
Document type	Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1493479-6
ISSN	1552-4833 ; 1552-4825
ISSN (online)	1552-4833
ISSN	1552-4825
DOI	10.1002/ajmg.a.33365
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