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Article ; Online: Bi-allelic variants in HCRT cause autosomal recessive narcolepsy.

Hakami, Wejdan / Thabet, Farah / Alhashem, Amal / Alghamdi, Abdulaziz / Alshahwan, Saad / Alkuraya, Fowzan S / Tabarki, Brahim

Neurogenetics

2024

Abstract: Narcolepsy with cataplexy is a complex disease with both genetic and environmental risk factors. To gain further insight into the homozygous HCRT-related narcolepsy, we present a case series of five patients from two consanguineous families, each ... ...

Abstract	Narcolepsy with cataplexy is a complex disease with both genetic and environmental risk factors. To gain further insight into the homozygous HCRT-related narcolepsy, we present a case series of five patients from two consanguineous families, each harboring a novel homozygous variant of HCRT c.17_18del. All affected individuals exhibited severe cataplexy accompanied by narcolepsy symptoms during infancy. Additionally, cataplexy symptoms improved or disappeared in the majority of patients over time. Pathogenic variants in HCRT cause autosomal recessive narcolepsy with cataplexy. Genetic testing of the HCRT gene should be conducted in specific subgroups of narcolepsy, particularly those with early onset, familial cases, and a predominantly cataplexy phenotype.
Language	English
Publishing date	2024-01-19
Publishing country	United States
Document type	Journal Article
ZDB-ID	1339887-8
ISSN	1364-6753 ; 1364-6745
ISSN (online)	1364-6753
ISSN	1364-6745
DOI	10.1007/s10048-024-00744-0
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Article ; Online: Problem-solving in clinical practice: breathing difficulty and muscle weakness following allogeneic haematopoietic stem cell transplantation.

Albulushi, Bashaer / Thabet, Farah / Alshahwan, Saad / Elborai, Yasser / Alkhayat, Nawaf / Alshahrani, Mohamed / Tabarki, Brahim

Archives of disease in childhood. Education and practice edition

2020 Volume 106, Issue 2, Page(s) 125–128

Abstract: Acute weakness and dyspnoea are unusual presentation after allogeneic haematopoietic stem cell transplantation (HSCT) complicated by chronic graft-versus-host disease (GVHD). The differential diagnosis and management are challenging for the paediatrician. ...

Abstract	Acute weakness and dyspnoea are unusual presentation after allogeneic haematopoietic stem cell transplantation (HSCT) complicated by chronic graft-versus-host disease (GVHD). The differential diagnosis and management are challenging for the paediatrician. This case chronicles the diagnostic journey of a child who presented with weakness, dyspnoea and difficulty in speech, 2 years after allogeneic HSCT and GVHD and explores the approach to neurological manifestations in this context.
MeSH term(s)	Graft vs Host Disease/diagnosis ; Graft vs Host Disease/etiology ; Hematopoietic Stem Cell Transplantation/adverse effects ; Humans ; Muscle Weakness/diagnosis ; Muscle Weakness/etiology
Language	English
Publishing date	2020-09-08
Publishing country	England
Document type	Case Reports ; Journal Article
ZDB-ID	2148818-6
ISSN	1743-0593 ; 1743-0585
ISSN (online)	1743-0593
ISSN	1743-0585
DOI	10.1136/archdischild-2019-317281
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Article ; Online: Congenital disorders of glycosylation: The Saudi experience.

Alsubhi, Sarah / Alhashem, Amal / Faqeih, Eissa / Alfadhel, Majid / Alfaifi, Abdullah / Altuwaijri, Waleed / Alsahli, Saud / Aldhalaan, Hesham / Alkuraya, Fowzan S / Hundallah, Khalid / Mahmoud, Adel / Alasmari, Ali / Mutairi, Fuad Al / Abduraouf, Hanem / AlRasheed, Layan / Alshahwan, Saad / Tabarki, Brahim

American journal of medical genetics. Part A

2017 Volume 173, Issue 10, Page(s) 2614–2621

Abstract: We retrospectively reviewed Saudi patients who had a congenital disorder of glycosylation (CDG). Twenty-seven Saudi patients (14 males, 13 females) from 13 unrelated families were identified. Based on molecular studies, the 27 CDG patients were ... ...

Abstract	We retrospectively reviewed Saudi patients who had a congenital disorder of glycosylation (CDG). Twenty-seven Saudi patients (14 males, 13 females) from 13 unrelated families were identified. Based on molecular studies, the 27 CDG patients were classified into different subtypes: ALG9-CDG (8 patients, 29.5%), ALG3-CDG (7 patients, 26%), COG6-CDG (7 patients, 26%), MGAT2-CDG (3 patients, 11%), SLC35A2-CDG (1 patient), and PMM2-CDG (1 patient). All the patients had homozygous gene mutations. The combined carrier frequency of CDG for the encountered founder mutations in the Saudi population is 11.5 per 10,000, which translates to a minimum disease burden of 14 patients per 1,000,000. Our study provides comprehensive epidemiologic information and prevalence figures for each of these CDG in a large cohort of congenital disorder of glycosylation patients.
MeSH term(s)	Adaptor Proteins, Vesicular Transport/genetics ; Adolescent ; Biomarkers, Tumor/genetics ; Child ; Child, Preschool ; Congenital Disorders of Glycosylation/epidemiology ; Congenital Disorders of Glycosylation/genetics ; Female ; Glycosylation ; Homozygote ; Humans ; Infant ; Male ; Mannosyltransferases/genetics ; Membrane Proteins/genetics ; Mixed Function Oxygenases/genetics ; Monosaccharide Transport Proteins/genetics ; Mutation ; N-Acetylglucosaminyltransferases/genetics ; Phenotype ; Retrospective Studies ; Saudi Arabia/epidemiology
Chemical Substances	Adaptor Proteins, Vesicular Transport ; Biomarkers, Tumor ; COG6 protein, human ; Membrane Proteins ; Monosaccharide Transport Proteins ; UDP-galactose translocator ; Mixed Function Oxygenases (EC 1.-) ; 4-coumaroyl-D-glucose hydroxylase (EC 1.14.17.-) ; ALG3 protein, human (EC 2.4.1.-) ; ALG9 protein, human (EC 2.4.1.-) ; Mannosyltransferases (EC 2.4.1.-) ; N-Acetylglucosaminyltransferases (EC 2.4.1.-) ; alpha-1,6-mannosyl-glycoprotein beta-1,2-N-acetylglucosaminyltransferase (EC 2.4.1.143)
Language	English
Publishing date	2017-07-25
Publishing country	United States
Document type	Journal Article
ZDB-ID	1493479-6
ISSN	1552-4833 ; 1552-4825
ISSN (online)	1552-4833
ISSN	1552-4825
DOI	10.1002/ajmg.a.38358
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Article: Cephalosporin-induced nonconvulsive status epilepticus in a uremic child.

Chedrawi, Aziza K / Gharaybeh, Salam I / Al-Ghwery, Saed A / Al-Mohaimeed, Sulaiman A / Alshahwan, Saad A

Pediatric neurology

2004 Volume 30, Issue 2, Page(s) 135–139

Abstract: The temporal relationship between convulsive seizures and the administration of beta-lactams has long been recognized. A specific form of seizures, nonconvulsive status epilepticus, is less common and is often manifested by alterations in mental status ... ...

Abstract	The temporal relationship between convulsive seizures and the administration of beta-lactams has long been recognized. A specific form of seizures, nonconvulsive status epilepticus, is less common and is often manifested by alterations in mental status without associated seizures. It is most commonly encountered in uremic patients and poses a diagnostic challenge because of its nonspecific clinical manifestations. In this report, we describe a child with chronic renal failure who developed nonconvulsive status epilepticus on two separate occasions after administration of a third-generation cephalosporin. Awareness of this potentially treatable condition is crucial to ensure appropriate and prompt medical therapy. To our knowledge, this is the first report of cephalosporin-induced nonconvulsive status epilepticus in a child with chronic renal failure.
MeSH term(s)	Ceftriaxone/adverse effects ; Cephalosporins/adverse effects ; Child ; Female ; Humans ; Status Epilepticus/chemically induced ; Status Epilepticus/diagnosis ; Status Epilepticus/physiopathology ; Uremia/drug therapy ; Uremia/physiopathology
Chemical Substances	Cephalosporins ; Ceftriaxone (75J73V1629)
Language	English
Publishing date	2004-02
Publishing country	United States
Document type	Case Reports ; Journal Article
ZDB-ID	639164-3
ISSN	1873-5150 ; 0887-8994
ISSN (online)	1873-5150
ISSN	0887-8994
DOI	10.1016/j.pediatrneurol.2003.07.006
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Article ; Online: Severe infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidase.

Massa, Valeria / Fernandez-Vizarra, Erika / Alshahwan, Saad / Bakhsh, Eman / Goffrini, Paola / Ferrero, Ileana / Mereghetti, Paolo / D'Adamo, Pio / Gasparini, Paolo / Zeviani, Massimo

American journal of human genetics

2008 Volume 82, Issue 6, Page(s) 1281–1289

Abstract: Cytochrome c oxidase (COX) deficiency, one of the most common respiratory-chain defects in humans, has been associated with mutations in either mitochondrial DNA genes or nucleus-encoded proteins that are not part in but promote the biogenesis of COX. ... ...

Abstract	Cytochrome c oxidase (COX) deficiency, one of the most common respiratory-chain defects in humans, has been associated with mutations in either mitochondrial DNA genes or nucleus-encoded proteins that are not part in but promote the biogenesis of COX. Mutations of nucleus-encoded structural subunits were sought for but never found in COX-defective patients, leading to the conjecture that they may be incompatible with extra-uterine survival. We report a disease-associated mutation in one such subunit, COX6B1. Nuclear-encoded COX genes should be reconsidered and included in the diagnostic mutational screening of human disorders related to COX deficiency.
MeSH term(s)	Amino Acid Sequence ; Amino Acid Substitution ; Base Sequence ; Brain/pathology ; Brain Diseases, Metabolic, Inborn/enzymology ; Brain Diseases, Metabolic, Inborn/genetics ; Brain Diseases, Metabolic, Inborn/pathology ; Cell Nucleus/enzymology ; Cell Nucleus/genetics ; Child ; Cytochrome-c Oxidase Deficiency/enzymology ; Cytochrome-c Oxidase Deficiency/genetics ; Cytochrome-c Oxidase Deficiency/pathology ; Electron Transport Complex IV/chemistry ; Electron Transport Complex IV/genetics ; Female ; Genetic Complementation Test ; Haplotypes ; HeLa Cells ; Humans ; Infant ; Magnetic Resonance Imaging ; Male ; Models, Molecular ; Molecular Sequence Data ; Pedigree ; Point Mutation ; Protein Conformation ; RNA Interference ; Sequence Homology, Amino Acid
Chemical Substances	COX6B1 protein, human (EC 1.9.3.1) ; Electron Transport Complex IV (EC 1.9.3.1)
Language	English
Publishing date	2008-05-22
Publishing country	United States
Document type	Case Reports ; Journal Article ; 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.2008.05.002
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Article ; Online: Genomic and phenotypic delineation of congenital microcephaly.

Shaheen, Ranad / Maddirevula, Sateesh / Ewida, Nour / Alsahli, Saud / Abdel-Salam, Ghada M H / Zaki, Maha S / Tala, Saeed Al / Alhashem, Amal / Softah, Ameen / Al-Owain, Mohammed / Alazami, Anas M / Abadel, Basma / Patel, Nisha / Al-Sheddi, Tarfa / Alomar, Rana / Alobeid, Eman / Ibrahim, Niema / Hashem, Mais / Abdulwahab, Firdous /

Hamad, Muddathir / Tabarki, Brahim / Alwadei, Ali H / Alhazzani, Fahad / Bashiri, Fahad A / Kentab, Amal / Şahintürk, Serdar / Sherr, Elliott / Fregeau, Brieana / Sogati, Samira / Alshahwan, Saad Ali M / Alkhalifi, Salwa / Alhumaidi, Zainab / Temtamy, Samia / Aglan, Mona / Otaify, Ghada / Girisha, Katta M / Tulbah, Maha / Seidahmed, Mohammed Zain / Salih, Mustafa A / Abouelhoda, Mohamed / Momin, Afaque A / Saffar, Muna Al / Partlow, Jennifer N / Arold, Stefan T / Faqeih, Eissa / Walsh, Christopher / Alkuraya, Fowzan S

Genetics in medicine : official journal of the American College of Medical Genetics

2018 Volume 21, Issue 3, Page(s) 545–552

Abstract: Purpose: Congenital microcephaly (CM) is an important birth defect with long term neurological sequelae. We aimed to perform detailed phenotypic and genomic analysis of patients with Mendelian forms of CM.: Methods: Clinical phenotyping, targeted or ... ...

Abstract	Purpose: Congenital microcephaly (CM) is an important birth defect with long term neurological sequelae. We aimed to perform detailed phenotypic and genomic analysis of patients with Mendelian forms of CM. Methods: Clinical phenotyping, targeted or exome sequencing, and autozygome analysis. Results: We describe 150 patients (104 families) with 56 Mendelian forms of CM. Our data show little overlap with the genetic causes of postnatal microcephaly. We also show that a broad definition of primary microcephaly -as an autosomal recessive form of nonsyndromic CM with severe postnatal deceleration of occipitofrontal circumference-is highly sensitive but has a limited specificity. In addition, we expand the overlap between primary microcephaly and microcephalic primordial dwarfism both clinically (short stature in >52% of patients with primary microcephaly) and molecularly (e.g., we report the first instance of CEP135-related microcephalic primordial dwarfism). We expand the allelic and locus heterogeneity of CM by reporting 37 novel likely disease-causing variants in 27 disease genes, confirming the candidacy of ANKLE2, YARS, FRMD4A, and THG1L, and proposing the candidacy of BPTF, MAP1B, CCNH, and PPFIBP1. Conclusion: Our study refines the phenotype of CM, expands its genetics heterogeneity, and informs the workup of children born with this developmental brain defect.
MeSH term(s)	Adult ; Child ; Child, Preschool ; Dwarfism/genetics ; Female ; Genomics/methods ; Genotype ; Humans ; Infant ; Infant, Newborn ; Male ; Microcephaly/genetics ; Microcephaly/physiopathology ; Mutation/genetics ; Pedigree ; Phenotype ; Exome Sequencing/methods
Language	English
Publishing date	2018-09-14
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	1455352-1
ISSN	1530-0366 ; 1098-3600
ISSN (online)	1530-0366
ISSN	1098-3600
DOI	10.1038/s41436-018-0140-3
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Article ; Online: Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.

Alazami, Anas M / Patel, Nisha / Shamseldin, Hanan E / Anazi, Shamsa / Al-Dosari, Mohammed S / Alzahrani, Fatema / Hijazi, Hadia / Alshammari, Muneera / Aldahmesh, Mohammed A / Salih, Mustafa A / Faqeih, Eissa / Alhashem, Amal / Bashiri, Fahad A / Al-Owain, Mohammed / Kentab, Amal Y / Sogaty, Sameera / Al Tala, Saeed / Temsah, Mohamad-Hani / Tulbah, Maha /

Aljelaify, Rasha F / Alshahwan, Saad A / Seidahmed, Mohammed Zain / Alhadid, Adnan A / Aldhalaan, Hesham / AlQallaf, Fatema / Kurdi, Wesam / Alfadhel, Majid / Babay, Zainab / Alsogheer, Mohammad / Kaya, Namik / Al-Hassnan, Zuhair N / Abdel-Salam, Ghada M H / Al-Sannaa, Nouriya / Al Mutairi, Fuad / El Khashab, Heba Y / Bohlega, Saeed / Jia, Xiaofei / Nguyen, Henry C / Hammami, Rakad / Adly, Nouran / Mohamed, Jawahir Y / Abdulwahab, Firdous / Ibrahim, Niema / Naim, Ewa A / Al-Younes, Banan / Meyer, Brian F / Hashem, Mais / Shaheen, Ranad / Xiong, Yong / Abouelhoda, Mohamed / Aldeeri, Abdulrahman A / Monies, Dorota M / Alkuraya, Fowzan S

Cell reports

2015 Volume 10, Issue 2, Page(s) 148–161

Abstract: Our knowledge of disease genes in neurological disorders is incomplete. With the aim of closing this gap, we performed whole-exome sequencing on 143 multiplex consanguineous families in whom known disease genes had been excluded by autozygosity mapping ... ...

Abstract	Our knowledge of disease genes in neurological disorders is incomplete. With the aim of closing this gap, we performed whole-exome sequencing on 143 multiplex consanguineous families in whom known disease genes had been excluded by autozygosity mapping and candidate gene analysis. This prescreening step led to the identification of 69 recessive genes not previously associated with disease, of which 33 are here described (SPDL1, TUBA3E, INO80, NID1, TSEN15, DMBX1, CLHC1, C12orf4, WDR93, ST7, MATN4, SEC24D, PCDHB4, PTPN23, TAF6, TBCK, FAM177A1, KIAA1109, MTSS1L, XIRP1, KCTD3, CHAF1B, ARV1, ISCA2, PTRH2, GEMIN4, MYOCD, PDPR, DPH1, NUP107, TMEM92, EPB41L4A, and FAM120AOS). We also encountered instances in which the phenotype departed significantly from the established clinical presentation of a known disease gene. Overall, a likely causal mutation was identified in >73% of our cases. This study contributes to the global effort toward a full compendium of disease genes affecting brain function.
MeSH term(s)	Central Nervous System Diseases/genetics ; Central Nervous System Diseases/pathology ; Chromosome Mapping ; Female ; Genetic Association Studies ; High-Throughput Nucleotide Sequencing ; Homozygote ; Humans ; Male ; Pedigree ; Phenotype ; Polymorphism, Single Nucleotide ; Sequence Analysis, DNA
Language	English
Publishing date	2015-01-13
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2649101-1
ISSN	2211-1247 ; 2211-1247
ISSN (online)	2211-1247
ISSN	2211-1247
DOI	10.1016/j.celrep.2014.12.015
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Article ; Online: The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.

Monies, Dorota / Abouelhoda, Mohamed / AlSayed, Moeenaldeen / Alhassnan, Zuhair / Alotaibi, Maha / Kayyali, Husam / Al-Owain, Mohammed / Shah, Ayaz / Rahbeeni, Zuhair / Al-Muhaizea, Mohammad A / Alzaidan, Hamad I / Cupler, Edward / Bohlega, Saeed / Faqeih, Eissa / Faden, Maha / Alyounes, Banan / Jaroudi, Dyala / Goljan, Ewa / Elbardisy, Hadeel /

Akilan, Asma / Albar, Renad / Aldhalaan, Hesham / Gulab, Shamshad / Chedrawi, Aziza / Al Saud, Bandar K / Kurdi, Wesam / Makhseed, Nawal / Alqasim, Tahani / El Khashab, Heba Y / Al-Mousa, Hamoud / Alhashem, Amal / Kanaan, Imaduddin / Algoufi, Talal / Alsaleem, Khalid / Basha, Talal A / Al-Murshedi, Fathiya / Khan, Sameena / Al-Kindy, Adila / Alnemer, Maha / Al-Hajjar, Sami / Alyamani, Suad / Aldhekri, Hasan / Al-Mehaidib, Ali / Arnaout, Rand / Dabbagh, Omar / Shagrani, Mohammad / Broering, Dieter / Tulbah, Maha / Alqassmi, Amal / Almugbel, Maisoon / AlQuaiz, Mohammed / Alsaman, Abdulaziz / Al-Thihli, Khalid / Sulaiman, Raashda A / Al-Dekhail, Wajeeh / Alsaegh, Abeer / Bashiri, Fahad A / Qari, Alya / Alhomadi, Suzan / Alkuraya, Hisham / Alsebayel, Mohammed / Hamad, Muddathir H / Szonyi, Laszlo / Abaalkhail, Faisal / Al-Mayouf, Sulaiman M / Almojalli, Hamad / Alqadi, Khalid S / Elsiesy, Hussien / Shuaib, Taghreed M / Seidahmed, Mohammed Zain / Abosoudah, Ibraheem / Akleh, Hana / AlGhonaium, Abdulaziz / Alkharfy, Turki M / Al Mutairi, Fuad / Eyaid, Wafa / Alshanbary, Abdullah / Sheikh, Farrukh R / Alsohaibani, Fahad I / Alsonbul, Abdullah / Al Tala, Saeed / Balkhy, Soher / Bassiouni, Randa / Alenizi, Ahmed S / Hussein, Maged H / Hassan, Saeed / Khalil, Mohamed / Tabarki, Brahim / Alshahwan, Saad / Oshi, Amira / Sabr, Yasser / Alsaadoun, Saad / Salih, Mustafa A / Mohamed, Sarar / Sultana, Habiba / Tamim, Abdullah / El-Haj, Moayad / Alshahrani, Saif / Bubshait, Dalal K / Alfadhel, Majid / Faquih, Tariq / El-Kalioby, Mohamed / Subhani, Shazia / Shah, Zeeshan / Moghrabi, Nabil / Meyer, Brian F / Alkuraya, Fowzan S

Human genetics

2017 Volume 136, Issue 8, Page(s) 921–939

Abstract: In this study, we report the experience of the only reference clinical next-generation sequencing lab in Saudi Arabia with the first 1000 families who span a wide-range of suspected Mendelian phenotypes. A total of 1019 tests were performed in the period ...

Abstract	In this study, we report the experience of the only reference clinical next-generation sequencing lab in Saudi Arabia with the first 1000 families who span a wide-range of suspected Mendelian phenotypes. A total of 1019 tests were performed in the period of March 2016-December 2016 comprising 972 solo (index only), 14 duo (parents or affected siblings only), and 33 trio (index and parents). Multigene panels accounted for 672 tests, while whole exome sequencing (WES) represented the remaining 347 tests. Pathogenic or likely pathogenic variants that explain the clinical indications were identified in 34% (27% in panels and 43% in exomes), spanning 279 genes and including 165 novel variants. While recessive mutations dominated the landscape of solved cases (71% of mutations, and 97% of which are homozygous), a substantial minority (27%) were solved on the basis of dominant mutations. The highly consanguineous nature of the study population also facilitated homozygosity for many private mutations (only 32.5% of the recessive mutations are founder), as well as the first instances of recessive inheritance of previously assumed strictly dominant disorders (involving ITPR1, VAMP1, MCTP2, and TBP). Surprisingly, however, dual molecular diagnosis was only observed in 1.5% of cases. Finally, we have encountered candidate variants in 75 genes (ABHD6, ACY3, ADGRB2, ADGRG7, AGTPBP1, AHNAK2, AKAP6, ASB3, ATXN1L, C17orf62, CABP1, CCDC186, CCP110, CLSTN2, CNTN3, CNTN5, CTNNA2, CWC22, DMAP1, DMKN, DMXL1, DSCAM, DVL2, ECI1, EP400, EPB41L5, FBXL22, GAP43, GEMIN7, GIT1, GRIK4, GRSF1, GTRP1, HID1, IFNL1, KCNC4, LRRC52, MAP7D3, MCTP2, MED26, MPP7, MRPS35, MTDH, MTMR9, NECAP2, NPAT, NRAP, PAX7, PCNX, PLCH2, PLEKHF1, PTPN12, QKI, RILPL2, RIMKLA, RIMS2, RNF213, ROBO1, SEC16A, SIAH1, SIRT2, SLAIN2, SLC22A20, SMDT1, SRRT, SSTR1, ST20, SYT9, TSPAN6, UBR4, VAMP4, VPS36, WDR59, WDYHV1, and WHSC1) not previously linked to human phenotypes and these are presented to accelerate post-publication matchmaking. Two of these genes were independently mutated in more than one family with similar phenotypes, which substantiates their link to human disease (AKAP6 in intellectual disability and UBR4 in early dementia). If the novel candidate disease genes in this cohort are independently confirmed, the yield of WES will have increased to 83%, which suggests that most "negative" clinical exome tests are unsolved due to interpretation rather than technical limitations.
MeSH term(s)	Consanguinity ; Exome ; Female ; Genetic Diseases, Inborn/diagnosis ; Genetic Diseases, Inborn/epidemiology ; Genetic Testing ; Genome, Human ; High-Throughput Nucleotide Sequencing ; Homozygote ; Humans ; Male ; Molecular Sequence Annotation ; Morbidity ; Mutation ; Phenotype ; Reproducibility of Results ; Saudi Arabia/epidemiology ; Sequence Analysis, DNA
Language	English
Publishing date	2017-06-09
Publishing country	Germany
Document type	Journal Article
ZDB-ID	223009-4
ISSN	1432-1203 ; 0340-6717
ISSN (online)	1432-1203
ISSN	0340-6717
DOI	10.1007/s00439-017-1821-8
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