Hao Hu

A. Kaindl, Muzammil Ahmad Khan, Hao Hu, 2017, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots

H. Ropers, D. Wieczorek, A. Tzschach, 2011, Human Genetics.

Biallelic missense variants in ZBTB11 can cause intellectual disability in humans

J. Vincent, T. Wienker, H. Ropers, 2018, Human molecular genetics.

Mutation of plasma membrane Ca2+ ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia impairs Ca2+ homeostasis

E. Bertini, L. Montecchi-Palazzi, V. Kalscheuer, 2012, Proceedings of the National Academy of Sciences.

Carnitine-acylcarnitine translocase deficiency with c.199-10 T>G and novel c.1A>G mutation

Jing Liu, Hao Hu, Bing Feng, 2017, Medicine.

Clinical and molecular characteristics of patients with Gaucher disease in Southern China.

Yuyu Feng, Hao Hu, T. Xie, 2018, Blood cells, molecules & diseases.

XRCC2 mutation causes meiotic arrest, azoospermia and infertility

D. Liang, L. Tan, Lei Dai, 2018, Journal of Medical Genetics.

Brain abnormalities in fucosidosis: transplantation or supportive therapy?

Hao Hu, Yunting Lin, Hongsheng Liu, 2017, Metabolic Brain Disease.

NDST1 missense mutations in autosomal recessive intellectual disability

T. Wienker, A. Ekici, M. Reuter, 2014, American journal of medical genetics. Part A.

Effect of inbreeding on intellectual disability revisited by trio sequencing

T. Wienker, H. Ropers, V. Kalscheuer, 2018, Clinical genetics.

Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability.

A. Noor, J. Vincent, R. Weksberg, 2011, American journal of human genetics.

Erratum to: Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing

S. Haas, Wei Chen, H. Richard, 2009, The HUGO Journal.

Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing

Hao Hu, Hugues Richard, Stefan A. Haas, 2009, The HUGO Journal.

Breakpoint analysis of balanced chromosome rearrangements by next-generation paired-end sequencing

Reinhard Ullmann, Wei Chen, Hao Hu, 2010, European Journal of Human Genetics.

Construction of a multiplex allele‐specific PCR‐based universal array (ASPUA) and its application to hearing loss screening†

K. Xia, Q. Pan, Jing Cheng, 2007, Human mutation.

Homozygous YME1L1 mutation causes mitochondriopathy with optic atrophy and mitochondrial network fragmentation

T. Wienker, H. Ropers, T. Wai, 2016, eLife.

Mutations of the aminoacyl‐tRNA‐synthetases SARS and WARS2 are implicated in the etiology of autosomal recessive intellectual disability

T. Wienker, H. Stehr, H. Ropers, 2017, Human mutation.

Integrated Sequence Analysis Pipeline Provides One‐Stop Solution for Identifying Disease‐Causing Mutations

T. Wienker, H. Ropers, V. Kalscheuer, 2014, Human mutation.

A novel ALDH5A1 mutation is associated with succinic semialdehyde dehydrogenase deficiency and severe intellectual disability in an Iranian family

H. Stehr, H. Ropers, A. Tzschach, 2013, American Journal of Medical Genetics. Part A.

ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity.

J. Rosenfeld, M. Shaw, E. Haan, 2013, American journal of human genetics.

ST3GAL3 mutations impair the development of higher cognitive functions.

Wei Chen, H. Ropers, A. Tzschach, 2011, American journal of human genetics.

Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: the WASH complex member SWIP.

E. Derivery, A. Gautreau, K. Sperling, 2011, Human molecular genetics.

Homozygous ARHGEF2 mutation causes intellectual disability and midbrain-hindbrain malformation

T. Wienker, H. Ropers, C. Birchmeier, 2017, PLoS genetics.

Integrative analysis revealed the molecular mechanism underlying RBM10-mediated splicing regulation

M. Landthaler, J. Maaskola, D. Wieczorek, 2013, EMBO molecular medicine.

Induction of cells with prostate cancer stem-like properties from mouse induced pluripotent stem cells via conditioned medium.

Masami Watanabe, Peng Huang, Chunxiao Liu, 2018, American journal of cancer research.

De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome

J. Lupski, R. Gibbs, T. Wienker, 2013, Genome Medicine.

Arhgef2 regulates neural differentiation in the cerebral cortex through mRNA m6A-methylation of Npdc1 and Cend1

Dingding Han, A. Kaindl, Liang Fang, 2021, iScience.

Genetics of intellectual disability in consanguineous families

T. Wienker, Wei Chen, R. Herwig, 2019, Molecular Psychiatry.

Exome Sequencing and Linkage Analysis Identified Novel Candidate Genes in Recessive Intellectual Disability Associated with Ataxia.

T. Wienker, H. Ropers, K. Kahrizi, 2015, Archives of Iranian medicine.

In-depth analysis reveals complex molecular aetiology in a cohort of idiopathic cerebral palsy

J. Gécz, Dingding Han, Dong Liu, 2021, Brain : a journal of neurology.

Intergenic and Repeat Transcription in Human, Chimpanzee and Macaque Brains Measured by RNA-Seq

Na Li, Hao Hu, Zheng Yan, 2010, PLoS Comput. Biol..

Mendelian and polygenic inheritance of intelligence: A common set of causal genes? Using next-generation sequencing to examine the effects of 168 intellectual disability genes on normal-range intelligence

D. Boomsma, J. Hottenga, H. Ropers, 2015 .

Next-generation sequencing identifies mutations of SMPX, which encodes the small muscle protein, X-linked, as a cause of progressive hearing impairment.

S. Haas, H. Kremer, L. Hoefsloot, 2011, American journal of human genetics.

X-exome sequencing in Finnish families with Intellectual Disability - four novel mutations and two novel syndromic phenotypes

S. Haas, H. Van Esch, I. Järvelä, 2014, Orphanet Journal of Rare Diseases.

A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability.

J. Gécz, S. Haas, H. Ropers, 2012, American journal of human genetics.

Monoallelic CRMP1 gene variants cause neurodevelopmental disorder

Y. Goshima, A. Dickmanns, Nobuto Arashiki, 2022, medRxiv.

Variants in CUL4B are Associated with Cerebral Malformations

A. V. Vulto-van Silfhout, L. Vissers, S. Haas, 2015, Human mutation.

Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder

K. Friend, M. Shaw, E. Haan, 2019, Molecular Psychiatry.

A defect in the CLIP1 gene (CLIP-170) can cause autosomal recessive intellectual disability

T. Wienker, N. Galjart, H. Ropers, 2014, European Journal of Human Genetics.

Mutation of the conserved polyadenosine RNA binding protein, ZC3H14/dNab2, impairs neural function in Drosophila and humans

Seth M. Kelly, H. Ropers, K. Moberg, 2011, Proceedings of the National Academy of Sciences.

Mapping Breakpoints of Complex Chromosome Rearrangements Involving a Partial Trisomy 15q23.1-q26.2 Revealed by Next Generation Sequencing and Conventional Techniques

Hao Hu, Hailiang Liu, Chuanchun Yang, 2016, PloS one.

Klüver–Bucy syndrome associated with a recessive variant in HGSNAT in two siblings with Mucopolysaccharidosis type IIIC (Sanfilippo C)

T. Wienker, H. Ropers, M. Schuelke, 2017, European Journal of Human Genetics.

Klüver–Bucy syndrome associated with a recessive variant in HGSNAT in two siblings with Mucopolysaccharidosis type IIIC (Sanfilippo C)

T. Wienker, H. Ropers, E. Knierim, 2016, European Journal of Human Genetics.

Inhibitory effects of sweet cherry anthocyanins on the obesity development in C57BL/6 mice

Wei Chen, Tao Wu, Xiaodong Zheng, 2014, International journal of food sciences and nutrition.

PTRH2 gene mutation causes progressive congenital skeletal muscle pathology

M. Jijiwa, M. Matter, J. Ramos, 2017, Human molecular genetics.

Dopa-responsive dystonia in Chinese patients: Including a novel heterozygous mutation in the GCH1 gene with an intermediate phenotype and one case of prenatal diagnosis

Hao Hu, Yunting Lin, Hongsheng Liu, 2017, Neuroscience Letters.

Early Frameshift Mutation in PIGA Identified in a Large XLID Family Without Neonatal Lethality

V. Kalscheuer, H. Esch, Linzhao Cheng, 2014, Human mutation.

Mutations in PTRH2 cause novel infantile-onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, and muscle weakness

T. Wienker, M. Jijiwa, H. Ropers, 2014, Annals of clinical and translational neurology.

Homozygous mutation in MCM7 causes autosomal recessive primary microcephaly and intellectual disability

A. Waheed, A. Kaindl, A. Prigione, 2021, Journal of Medical Genetics.

Expanding the clinical phenotype of patients with a ZDHHC9 mutation

J. Thevenon, V. Kalscheuer, L. Faivre, 2014, American Journal of Medical Genetics. Part A.

Mutations in the histamine N-methyltransferase gene, HNMT, are associated with nonsyndromic autosomal recessive intellectual disability.

J. Vincent, H. Stehr, H. Ropers, 2015, Human molecular genetics.

Mutations in the tRNA methyltransferase 1 gene TRMT1 cause congenital microcephaly, isolated inferior vermian hypoplasia and cystic leukomalacia in addition to intellectual disability

A. Tietze, A. Kaindl, Hao Hu, 2018, American journal of medical genetics. Part A.

Bi-allelic mutation in Fsip1 impairs acrosome vesicle formation and attenuates flagellogenesis in mice

Dingding Han, Hao Hu, Yaser Gamallat, 2021, Redox biology.

A defect in the CLIP1 gene (CLIP-170) can cause autosomal recessive intellectual disability

T. Wienker, N. Galjart, H. Ropers, 2015, European Journal of Human Genetics.

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

K. Friend, M. Shaw, E. Haan, 2015, Molecular Psychiatry.

Hypomorphic and hypermorphic mouse models of Fsip2 indicate its dosage-dependent roles in sperm tail and acrosome formation.

Dingding Han, Hao Hu, Xiaoliang Li, 2021, Development.

New evidence for the role of calpain 10 in autosomal recessive intellectual disability: identification of two novel nonsense variants by exome sequencing in Iranian families.

T. Wienker, H. Ropers, K. Kahrizi, 2015, Archives of Iranian medicine.

Expanding the Phenotype of NUP85 Mutations beyond Nephrotic Syndrome to Primary Autosomal Recessive Microcephaly and Seckel Syndrome Spectrum Disorders

V. Tarabykin, B. Fahrenkrog, B. Kamien, 2021, Neuropediatrics.

[A novel mutation in Mitf gene leads to a patient with Waardenburg syndrome type II].

Hao Hu, Zhengze Liu, Yong Feng, 2007, Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery.